Child and adolescent psychiatry: Interview with Dr. Laurel Williams – Baylor College of Medicine News

Editors note: This blog post is part of an ongoing Progress Notes series featuring individuals who work in clinical psychiatry. In the following interview, third-year medical student Jessica C. Sheu interviews Dr. Laurel Williams.

Dr. Laurel Williams is the director of residency training for Baylor College of Medicines Child and Adolescent Psychiatry Fellowship, and the medical director of the Texas Child Mental Health Care Consortiums Centralized Operational Support Hub, Texas Child Health Access Thru TeleMedicine, and the Community Workforce Expansion. She is also an associate professor with special expertise in treating youth with suicidal behaviors and pregnant and post-partum adolescents.

In the following interview, Dr. Williams highlights her journey toward child and adolescent psychiatry and shares advice on staying physically distant but socially connected.

Q: Why did you pursue psychiatry?A: I have been interested in learning about the totality of a person. When I was in elementary and junior high school, I was quiet, observant, and always fascinated by what other kids were doing. Because of this, people often came up to me and shared their stories, and through that, I learned more about people and found it interesting.

In addition, my dad is a physician and went to medical school and residency while I was growing up, so I was able to see him in that journey. This greatly influenced me, so I went to college with the idea that I wanted to go to medical school and become a psychiatrist.

Q: Can you elaborate on your role in child and adolescent psychiatry?A: While I am in child and adolescent psychiatry, I think it has been mislabeled in my opinion I think we should really call ourselves family psychiatry. A lot of what we know about the human condition is that we are connected by so many influences, including ones genetics and society, nature and nurture.

Therefore, when I evaluate a young person during a visit, I am evaluating more than just the person. I am trying to understand as much as possible about all of the pieces of the puzzle in this young persons life We know that patients are genetically more likely to have a relative with a mental health disorder as well, so we can better understand our patients by understanding their family and social structures. If a family member needs help, we can help get him or her connected with professional support.

Q: What drew you to child and adolescent psychiatry?A: In adult psychiatry, the individual patient is the only person you talk to.. Unless given permission, a psychiatrist is not able to talk to the people in the patients life although they could provide a broader viewpoint of whats going on. It can be difficult to know all of the pieces.

In contrast, gaining other viewpoints is actually a requirement in child and adolescent psychiatry. You have to reach out and speak to people who are important in that persons life in order to get a better picture. This creates more opportunities for change and the ability to improve a situation, particularly with children.

Q: What is your role on a mental healthcare team?A: While other members on a mental healthcare team are experts in their respective specialties, I think the training of child and adolescent psychiatrists provides us with different layers of education so that we are expected to approach a situation with different angles. It often means that psychiatrists are in a team-lead position not because they are experts in every single aspect, but because they hopefully are experts in pulling together the biopsychosocial, cultural, religious, and economic model.

Regardless, I always take the opinions of my team experts in certain tasks, and I understand how all the roles should fit together.

Q: What are some ways that you balance work and personal life?A: I try to disconnect from the work after hours and on weekends. I love my work, but I also need to make sure that work doesnt consume me. In this time, I am ensuring that I engage in things that I enjoy, such as spending time with my daughter, reading, or playing with my animals.

Also, a lot of being a child psychiatrist is hard. You hear difficult stories, and sometimes families are broken in ways that are painful to hear about. I also think it is important to create a culture within work where you are able to share how youre feeling, and there is a safe space to decompress from the days events so you dont take it home with you. In this way, we all can be deliberate and mindful about disconnecting.

Q: In light of COVID-19 and current social issues, what advice would you give to others going through hard times?A: Time and time again, we know that when people have better social connections, their overall physical health and psychological well-being improve. Therefore, focusing on the social connections in your life right now is an important way to get through hard times.

I like to say physically distant, but socially present. Even if you cannot see someone in person because you need to stay physically distant, you can find other ways to be socially connected. While I personally am not active on social media, I have Zoomed more than Ive ever wanted to in my life. And while Im more than satisfied with my level of social media presence, I like that social media is available for those who are physically apart from each other.

Everyone has a different setpoint as to how much social connection they need, but really making sure that you stay connected is to me the biggest ingredient.

By Jessica C. Sheu, third-year medical student at Baylor College of Medicine

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Child and adolescent psychiatry: Interview with Dr. Laurel Williams - Baylor College of Medicine News

54 million people in America face food insecurity during the pandemic. It could have dire consequences for their health. – AAMC

When the Massachusetts General Hospital (MGH) Revere HealthCare Center opened its therapeutic food pantry in January 2020, the plan was to start off with a three-month, 10-patient pilot program. The pantry would provide plenty of plant-based, healthy food to the patients, all of whom had nutrition-dependent chronic diseases, like diabetes and obesity, and were food insecure, meaning they lacked enough food to live a healthy and active life.

Of course, then COVID hit, says Jacob Mirsky, MD, a primary care physician at MGH Revere and the food pantrys medical director.

The number of community members in the Boston area struggling to access nutritious food jumped in March as the measures put in place to contain the novel coronavirus pandemic hit them economically. Mirsky and his team decided to rehaul the entire operation and expand service to every patient treated at the center and their families.

With funding from MGH Revere and partnerships with local food nonprofits, the pantry grew from operating out of a closet to filling a 1,000-square-foot storage space and feeding up to 80 patients and their families each week.

Food insecurity across the country has risen significantly since the pandemic sidelined 14 million workers in the United States from February to May, according to the Pew Research Center.

Feeding America, the largest hunger-relief organization in the United States, estimates that 17 million people in the country could become food insecure because of the pandemic, bringing the total to more than 54 million people in the country, including 18 million children. Before COVID-19, food insecurity was at its lowest since the Great Recession, but it still impacted 37 million people.

Since food insecurity and poor nutrition are associated with several chronic illnesses that put people at higher risk for the more severe complications of COVID-19, the food access crisis threatens to exacerbate the already glaring disparities in health outcomes for vulnerable people, including low-income people, children, older adults, and immigrants living in the United States illegally.

Though the factors underlying racial and ethnic disparities in Covid-19 in the United States are multifaceted and complex, long-standing disparities in nutrition and obesity play a crucial role in the health inequities unfolding during the pandemic, writes a cohort of physicians and researchers in an article published in the New England Journal of Medicine in September. A healthy diet, rich in fruits and vegetables and low in sugar and calorie-dense processed foods, is essential to health. The ability to eat a healthy diet is largely determined by ones access to affordable, healthy foods a consequence of the conditions and environment in which one lives.

Mirsky believes that it is incumbent upon the health care system, and particularly academic medical centers, to take on a greater role in educating and connecting patients to healthy and tasty foods and consequently reduce the prevalence of nutrition-related illnesses.

Were now living in a world where it is abundantly clear that the power of doctors and medical students and trainees expands beyond the walls of a health care setting, Mirsky says. Building these types of solutions [that address social determinants of health] is just as important if not more important than prescribing them medicine.

Over the past decade, a growing body of research has linked poor nutrition to poor health outcomes, particularly in patients with chronic diseases such as heart disease and diabetes. This can stem from not only a lack of food but also an excess of unhealthy food that can cause obesity and contribute to other health problems. For many, this could be because they live in a food desert, where there are no grocery stores within a mile of their home, or because unhealthy food may be cheaper and easier to access.

The research has birthed a movement known as Food is Medicine, where physicians, nutrition experts, and policymakers encourage the use of programs that provide medically-tailored food to prevent and treat serious illnesses in patients, as opposed to relying solely on pharmaceuticals and other health care interventions.

Food is really critically important for many of the diseases that are plaguing our country and the world, Mirsky says.

A report published by the United States Department of Agriculture in 2017 found that food insecurity was associated with 10 of the costliest and most deadly preventable diseases in the country, including hypertension, diabetes, cancer, and stroke.

Conversely, a healthier diet, particularly one that focuses on plant-based meals, has been associated with reduced risk for several chronic diseases, depression, and decreased mental function.

But for millions of people in the United States, eating enough nutritious food is far easier said than done. Certain groups living in the United States face additional barriers and risks when it comes to nutrition and health, particularly in the midst of the COVID-19 pandemic.

Children: Nearly 30 million children in the United States qualified for free or reduced-cost lunches at school in 2019. The COVID-19 pandemic has complicated food insecurity among children, as the estimated number of food-insecure kids could jump from 11 million to an estimated 18 million, according to Feeding America. While many schools have continued to provide meals to children in need and food banks and pantries have amped up services, the disruption could have concerning long-term consequences. Studies have linked food insecurity in children to poor health, stunted development, behavioral issues, and difficulty keeping up in school, according to Feeding America.

Older adults: Seniors, generally defined as people age 65 and older, are at increased risk of the more severe complications that come with COVID-19. Consequently, those who live on low and fixed incomes face greater barriers to accessing adequate nutrition. This can, in turn, further increase their vulnerability to poor health outcomes.

A lot of older adults, unfortunately, dont have a generous retirement income, explains David Buys, PhD, MSPH, an associate professor at Mississippi State University Extension and College of Agriculture and Life Sciences who has studied food insecurity in older adults. They might be living on nothing but Social Security. Some might not have Social Security. We know that we have an increasing number of grandparents raising grandchildren that can be a challenge.

Buys says that older adults who are frail or lack transportation may struggle to get to the grocery store or to a food pantry and that some are afraid to go out and risk exposing themselves to infection.

Food banks, food pantries, and other community outreach organizations have had to be creative in ways that they serve older adults since the pandemic hit, such as delivering food to their homes, drawing on long-standing programs like Meals on Wheels, Buys says.

One study from before the pandemic found that, in a group of older adults discharged from the hospital, those seniors that received meals delivered by Meals on Wheels had lower rates of hospital readmission in three and six months than expected.

Providing healthy meals can be a key to keeping older adults healthy and out of the hospital or congregate health care situations that might increase their risk of contracting COVID-19. Its an issue of particular concern since more than 84% of people over the age of 65 have at least one chronic condition and many face economic hardship as a result of medical debt, according to the National Council on Aging.

Immigrants in the United States illegally: While Latino communities in the United States in general have been disproportionately impacted by the pandemic, immigrants in the country without legal permission many of whom are Latino are particularly vulnerable to food insecurity because they are not eligible for many government relief programs. Even before the pandemic, 1 in 4 experienced food insecurity, according to a 2016 report by Bread for the World, a nonprofit dedicated to ending hunger.

While Medicaid programs in some states, including California and Massachusetts, are beginning to cover the cost of programs that provide food to patients, people living in the country illegally are not eligible for Medicaid. Nor are they eligible for the Supplemental Nutrition Assistance Program, formerly known as food stamps, nor the $1,200 stimulus check that the federal government approved earlier this year.

We see a movement right now to integrate more food and nutrition services into health care delivery and financing, explains Sarah Downer, JD, associate director of whole person care at the Center for Health Law and Policy Innovation of Harvard Law School. But every gap that we have is a place where undocumented immigrants fall into that gap.

Instead, many rely on local food pantries for aid, which were stretched thin early in the pandemic while trying to accommodate millions of new clients, says David Velasquez, a fourth-year medical student at Harvard Medical School who is also pursuing a master of business administration at Harvard Business School and a master in public policy at Harvard Kennedy School.

Food is a basic human need. And its something that we all deserve.

David VelasquezFourth-year medical student at Harvard Medical School

Velasquez, who experienced food insecurity himself as the child of Nicaraguan parents who originally came to the United States illegally before being granted asylum, decided during the early months of the pandemic to research policies that could support food access for immigrants during this crisis.

He teamed up with another Harvard medical student, Jordan Kondo, and two attorneys from the Center for Health Law and Policy Innovation, Downer and Emily Broad Lieb, JD, to write a journal article that argued for policies that could help bring relief to immigrants who arent eligible for much government aid.

For example, they said the government should make it a priority to fund emergency food services programs that are accessible to those living in the country illegally, such as food banks and community health centers, and that health systems should ensure that they are not excluded from programs that integrate nutrition into health care delivery.

Food is a basic human need, Velasquez says. And its something that we all deserve.

When Mirsky was crafting the model for MGH Reveres therapeutic food pantry, it was important to him that the pantry provide not only nutritious food but also the means to enjoy it.

Patients who visited the pantry initially received pots and pans, a spatula, oil, spices, and consultations with a nutritionist who could help them come up with recipes that they enjoy. The goal is to foster self-motivated healthy lifestyles. When the pantry expanded to a greater number of patients due to the pandemic, they could no longer offer all these services, but they hope to reintroduce them in the future.

Food and eating are an essential part of the human experience, Mirsky says. Cooking and enjoying healthy food is a very powerful and respectful way of improving someones life.

The MGH Revere pantry in the Boston area is just one of many nutrition outreach programs that health care providers across the country have increasingly implemented in recent years, as the American Hospital Association highlights in its social determinants of health report series. More health care providers are screening for food insecurity regularly and helping connect their patients to resources.

Still, food insecurity persisted before the pandemic, and the pandemic has further stretched existing community resources, as NPR reported in September.

Mirsky notes that the pantry at MGH Revere is already feeling the strain and is leading an effort to raise funds for a permanent location for the pantry. Hes also concerned about how much food they will be able to acquire in the winter, when there will be less local produce available and as renewed COVID-19 surges threaten to further stress systems.

Our goal is to recognize that this is a very long-term problem that is going to require a long-term solution.

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54 million people in America face food insecurity during the pandemic. It could have dire consequences for their health. - AAMC

How to confront the challenges of an unprecedented Match cycle – American Medical Association

In a normal year, the residency-selection process is anxiety-provoking. Adding a global pandemic to the mixresulting in key aspects of the process being alteredmay deepen those anxieties.

A recent webinar in the AMA Innovations in Medical Education Webinar SeriesResidency Application Process: Current Challenges and Potential Solutionsexamines some of the typical challenges of residency selection and how they might be addressed during the atypical 2021 application cycle and beyond. A recording of the webinar is available in the resources area of theAccelerating Change in Medical Education Community(registration required).

Even in normal times, the process of finding a residency program can be taxing on students. As highlighted by Kathleen Kashima, PhDsenior associate dean of students at University of Illinois College of Medicinethis years cycle could add greater uncertainty to the process of distinguishing among residency applicants. Some of the milestones that are traditionally part of the process, such as away rotations, also have fallen by the wayside due to travel restrictions.

According to Kashima, areas disrupted by the pandemic include:

Because of these and other uncertainties, medical students application behaviors may change this year.

We are encouraging student applicants to apply to programs that they see as a good fit and not flood the zone with applications, Kashima said. Find out how residency programs will view applications in 2021.

Competitive specialties and prestige programs may get more applications. More students than usual may choose to do joint degrees and research programs, which will increase the number of applications next year. There are some groups of students who have more angst and may apply to more programs.

Despite those potential realities for the upcoming cycle, Kashima cited reasons for optimismincluding the quick responses stakeholders made to accommodate this years Matchon a community movement toward a healthier Match culture.

Learn about a pilot program that offers residency applicants a chance to say, Look at me.

Citing a lack of interest among applicantsand program directors, the Association of American Medical Colleges (AAMC) announced that a video interview program it had been pilotingfor emergency medicine residency programs would not continue past the 2020 application cycle.Still, the experience some faculty programs had with the standard video interview (SVI) program could inform the upcoming cycle of virtual interviews, said Fiona Gallahue, MD.

Dr. Gallahue cited research on the now defunct SVI program offers some insight on student preparation habits that is likely applicable to the upcoming virtual interview cycle. Data cited from a 2018 study shows that:

There are some take-home points from the SVI, said Dr. Gallahue, director of the emergency medicine residency program at the University of Washington. One is that its possible that unconscious bias can be limited and maybe even eliminated in an interview setting if enough time and resources will be applied. At least 10% of our applicants will have technical difficulties, so its best to offer a plan B and maybe even a plan C.

A majority of our applicants will be doing the interviews in their homes, so that they can be in a comfortable environment, she added. Certainly, it makes sense to encourage that. Students will likely prepare for these interviews better if they are given materials in advance, coaching and have expectations set. I really dont think we want anyone preparing more than seven hours.

Learnwhy the AAMChaltedthe standardized video interview.

In 2010, 18% of student applicants from U.S. MD-granting medical schools matched with a school they ranked fourth or lower on their list. In 2020, that number was at 24%. Maya M. Hammoud, MDchair for education at University of Michigan Medical Schooloffered that data as evidence that the Match is becoming less efficient with the increasing number of applications.

To help with efficiency, she offered three proposed approaches:

The third measure is one which Dr. Hammoud is pursuing via a grant from the AMA Reimaging Residency initiative grant. The projectRight Resident, Right Program, Ready Day Oneaims to improve the continuum of education between medical school and residency. The project strives to optimize the alignment and compatibility between interested applicants and potential residency programs.

We all want the same thing, Dr. Hammoud said. We all want the cycle to be a lot better and we are all working to make it the best it can be. But, clearly, the current status is not acceptable. We all can see it deteriorating year after year and we cant just stand by and watch.

Learn how ob-gyns are aiming to fix residency selection.

The AMA has curateda selection of resourcesto assist residents, medical students and faculty during the COVID-19 pandemic to help manage the shifting timelines, cancellations and adjustments to testing, rotations and other events at this time.

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How to confront the challenges of an unprecedented Match cycle - American Medical Association

Birth of Baby Brother Ignites Medical Student’s Passion To Heal – UNLV NewsCenter

Now in her second year at the UNLV School of Medicine, Paris Collier vividly remembers a day when she was just 4 years old, a day that started her on the path to becoming a physician.

I pressed my forehead against the cool glass, attempting to get a better look. My brother lay in his incubator, no bigger than my fathers hand, with tubes and wires covering his tiny body, she said. While the scene might create unease for most, for the first time since his birth, I felt a sense of relief. For weeks, my brother had been in the neonatal intensive care unit (NICU) fighting for his life as my family and I worried at home. Even at such a young age, I understood the situation was dire. This was the first moment I ever got to lay eyes on my newborn brother.

Though children were not allowed in the NICU, a nurse had agreed to let the little girl look at her brother for five minutes through a window.

My brother was born at just 27 weeks and spent two months confined to the NICU. I was so proud to be a big sister, but I felt helpless and scared. Will my brother live? Why are my parents crying? Why cant he breathe on his own? I wanted to know why and I wanted to help. Reflecting now, it was this moment that set me on a journey to an interest in medicine.

Today, her brother William, who was born with a number of allergies and asthma, is in college. While Collier describes him as a wonderful young man, she said that during the COVID-19 pandemic, he must be especially careful because of his underlying health conditions. He and my mom are staying home quite a bit.

It wasnt just that brief glimpse of her brother in the NICU that steered her toward a career in medicine. Going to appointment after appointment with him made me want to learn about the human body. I watched as a doctor could calm my mothers nerves or make my brother smile. I could feel the care and concern the physicians had, not only for the patient, but for our entire family. Throughout my schooling, I frequently pursued science opportunities to increase my knowledge. This ultimately led me to want to pursue a career in medicine.

A magna cum laude graduate of UNR, Collier majored in both biology and Spanish. She credits her love for the foreign language to both her grandfather and to teachers she had in grades K-12. My grandfather speaks Spanish fluently and was even a Spanish teacher before becoming a lawyer. I was able to start picking up the language from a young age and continued to study it in school. I saw an opportunity to serve a greater community by learning another language. I hope that my experience with the language and culture will help me to be a better physician for my patients.

During her sophomore year of college, Collier studied abroad in Costa Rica, shadowing at a local hospital in the town of San Ramon. While assisting with physical therapy exercises, watching live births, and observing several different surgical specialties, she was able to directly interact with patients and local health care workers. My experience was amazing, to say the least.

That experience in Costa Rica, which offers universal health care to its citizens, reinforced her belief that health care should be a right. I was privileged to have access to health care throughout my life, but for some people in our country that is not the case. I hope that as a future physician I can use my voice, my vote, and my platform to help move our health care system towards a better future.

Collier her mother is a sales rep for a pharmaceutical company and her father works in the tech industry says she chose to attend the UNLV School of Medicine because she connected with the mission statement of the school. Nevada has been my home for many years and the UNLV School of Medicine is fiercely devoted to serving the state and especially underrepresented groups.

Though she misses much of the in-person study at the medical school because of COVID-19, Collier said the emphasis on virtual technology could translate to better care for patients. I think one positive thing that may come out of this pandemic is an emphasis on telemedicine. This can make providers more accessible to their patients. Transportation to appointments can be a huge barrier for patients. In the future, more providers will now be able to assess patients without having them come in person.

The emphasis on volunteer work during medical school is something Collier has long embraced. Prior to the COVID-19 outbreak, she was very active at Squires Elementary School, helping students with homework and art and outdoor activities. Volunteering at Squires was always the best part of my week. Her volunteerism was particularly on display during her undergraduate years, as she helped raise $60,000 for Renown Hospital in Reno the hospital she credits with saving her brothers life by organizing dance marathon fundraisers.

Collier, who was elected treasurer of her medical school class, is frequently asked how she was named Paris.

My parents said they wanted to give me a somewhat unique name. They dreamed of getting to travel the world someday. They got the idea to look at an atlas for names. They fell in love with the name Paris and the rest was history.

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Birth of Baby Brother Ignites Medical Student's Passion To Heal - UNLV NewsCenter

City of Cambridge Publishes Manual on Trauma-Informed Policing Initiative | News – Harvard Crimson

The City of Cambridge published a manual this month outlining its trauma-informed policing initiative and offering guidance on how to implement a similar program in municipalities around the country.

In 2015, the City of Cambridge collaborated with the Cambridge Police Department to create peer support resources and training programs that emphasize mindfulness practices, improve interviewing skills, and promote a better understanding of trauma.

Elizabeth M. Speakman, coordinator for the domestic and gender-based violence prevention initiative for the City of Cambridge, said the program first began when she and her team researched trauma-informed policing initiatives around the country. She said they found most departments focused on the impact of trauma either on the local community or within the police department, but none of them explored the intersection of the two.

There weren't departments who were holding both of those and the intersection of how being traumatized by your job impacts your ability to support trauma victims out in the community, she said.

James W. Hopper, a teaching associate in psychiatry at the Harvard Medical School and an instructor in the program, said his teaching often draws on neuroscience to demonstrate a connection between police officers own experiences and the experiences of survivors of sexual assault.

I draw a lot of parallels between how the human brain responds to being attacked in a sexual way to how the human brain responds to being attacked on the battlefield or police officers involved in a shooting or a domestic violence call that spiraled out of control, he said. I'm just constantly saying like, Hey, this is how evolution shaped our brains to respond to being attacked.

Katia Santiago-Taylor, the advocacy and legislative affairs manager for the Boston Area Rape Crisis Center, who participated in the program, said the training also focuses on helping officers understand how the past traumas of a survivor of sexual assault will influence their response to a present incident.

Trauma is like a brick wall, and each incident is one brick, and my brick wall looks different than your brick wall, she said. Because my brick wall and your brick wall look different, my reaction is going to be very different than yours.

That's what we want officers to understand that many survivors are responding to the brick wall, not to just the one incident, she added.

The idea of outlining the program in a widely accessible guide stemmed from community interest, Speakman said.

Once there's a good idea, and people learn about it, there's no hesitancy in terms of reaching out and trying to mimic that idea or apply it locally, CPD spokesperson Jeremy Warnick added.

Alyssa Donovan, a victim witness advocate for the CPD, said the team often invites other police departments including those from Boston, Somerville, Harvard, and MIT and other organizations in an effort to achieve a more well-rounded audience.

HUPD spokesperson Steven G. Catalano wrote in an emailed statement that several officers have attended training at the CPD and found it meaningful.

Hopper said one of the primary goals of implementing this trauma-informed approach anywhere is to change the culture of policing.

It's to change the culture of policing, so it's more, quote, trauma informed, he said. That includes not just understanding the trauma of the people they work with especially sexual assault victims who tend to be terribly misunderstood but acknowledging and recognizing their own traumas and seeing the connections.

I think all of our systems have a lot of work to do around supporting survivors of sexual assault and that is one of the focuses of the training, Speakman said. From the experience of offering this training several times and seeing service providers, officers, detectives, command staff go through the training and learn about how trauma affects the brain is really transformative.

Staff writer Taylor C. Peterman can be reached at taylor.peterman@thecrimson.com. Follow her on Twitter @taylorcpeterman.

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City of Cambridge Publishes Manual on Trauma-Informed Policing Initiative | News - Harvard Crimson

President Trumps doctor is a D.O, not an M.D. Whats the difference? – Tampa Bay Times

Dr. Katherine Pannel was initially thrilled to see President Donald Trumps physician is a doctor of osteopathic medicine. A practicing D.O. herself, she loved seeing another glass ceiling broken for the type of doctor representing11% of practicing physiciansin the U.S. and now1 in 4 medical studentsin the country.

But then, as Dr. Sean Conley issued public updates on his treatment of Trumps COVID-19, the questions and the insults about his qualifications rolled in.

How many times will Trumps doctor, who is actually not an MD, have to change his statements? MSNBCs Lawrence ODonnelltweeted.

It all came falling down when we had people questioning why the president was being seen by someone that wasnt even a doctor, Pannel said.

The osteopathic medical field has had high-profile doctors before, good and bad. Dr. Murray Goldstein was the first D.O. to serve as a director of an institute at the National Institutes of Health, and Dr. Ronald R. Blanck was the surgeon general ofthe U.S. Army. Former Vice President Joe Biden, challenging Trump for the presidency, alsosees a doctor who is a D.O.But another now former D.O., Larry Nassar, who was the doctor for USA Gymnastics, was convicted of serial sexual assault.

Still, with this latest example, Dr. Kevin Klauer, CEO of the American Osteopathic Association, said hes heard from many fellow osteopathic physicians outraged that Conley and by extension, they, too are not considered real doctors.

You may or may not like that physician, but you dont have the right to completely disqualify an entire profession, Klauer said.

For years, doctors of osteopathic medicine have been growing in number alongside the better-known doctors of medicine, who are sometimes called allopathic doctors and use the M.D. after their names.

According to theAmerican Osteopathic Association, the number of osteopathic doctors grew 63 percent in the past decade and nearly 300 percent over the past three decades. Still, many Americans dont know much about osteopathic doctors, if they know the term at all.

There are probably a lot of people who have D.O.s as their primary (care doctor) and never realized it, said Brian Castrucci, president and CEO of the de Beaumont Foundation, a philanthropic group focused on community health.

Both types of physicians can prescribe medicine and treat patients in similar ways.

Although osteopathic doctors take adifferent licensing exam, the curriculum for their medical training four years of osteopathic medical school is converging with M.D. training as holistic and preventive medicine becomes more mainstream. And starting this year, both M.D.s and D.O.s were placed into one accreditation pool to compete for the same residency training slots.

But two major principles guiding osteopathic medical curriculum distinguish it from the more well-known medical school route: the 200-plus hours of training on the musculoskeletal system and the holistic look at medicine as a discipline that serves the mind, body and spirit.

The roots of the profession date to the 19th century and musculoskeletal manipulation. Pannel was quick to point out the common misconception that their manipulation of the musculoskeletal system makes them chiropractors. Its much more involved than that, she said.

Dr. Ryan Seals, who has a D.O. degree and serves as a senior associate dean at the University of North Texas Health Science Center in Fort Worth, said that osteopathic physicians have a deeper understanding than allopathic doctors of the range of motion and what a muscle and bone feel like through touch.

That said, many osteopathic doctors dont use that part of their training at all: A 2003 Ohio study said approximately75%of them did not or rarely practiced osteopathic manipulative treatments.

The osteopathic focus on preventive medicine also means such physicians were considering a patients whole life and how social factors affect health outcomes long before the pandemic began, Klauer said. This may explain why 57 percent of osteopathic doctorspursue primary carefields, as opposed to nearly a third of those with doctorates of medicine, according to theAmerican Medical Association.

Pannel pointed out that shes proud that42 percentof actively practicing osteopathic doctors are women, as opposed to36 percentof doctors overall. She chose the profession as she felt it better embraced the whole person, and emphasized the importance of care for the underserved, includingrural areas. She and her husband, also a doctor of osteopathic medicine, treat rural Mississippi patients in general and child psychiatry.

Given osteopathic doctors' likelihood of practicing in rural communities and of pursuing careers in primary care,Health Affairsreported in 2017, they are on track to play an increasingly important role in ensuring access to care nationwide, including for the most vulnerable populations.

To be sure, even though the physicians end up with similar training and compete for the same residencies, some residency programs have often preferred M.D.s, Seals said.

Traditional medical schools have held more esteem than schools of osteopathic medicine because of their longevity and name recognition. Most D.O. schools have been around for only decades and often are in Midwestern and rural areas.

While admission to the nations37 osteopathic medical schoolsis competitive amid a surge of applicants, thegrade-point average and Medical College Admission Test scoresareslightly higherfor the155 U.S. allopathic medical schools: Theaverage MCATwas 506.1 out of 528 for allopathic medical school applicants over a three-year period, compared with 503.8 for osteopathic applicants for 2018.

Seals said prospective medical students ask the most questions about which path is better, worrying they may be at a disadvantage if they choose the D.O. route.

Ive never felt that my career has been hindered in any way by the degree, Seals said, noting that he had the opportunity to attend either type of medical school, and osteopathic medicine aligned better with the philosophy, beliefs and type of doctor he wanted to be.

Many medical doctors came to the defense of Conley and their osteopathic colleagues, including Dr. John Morrison, an M.D. practicing primary care outside of Seattle. He was disturbed by the elitism on display on social media, citing the skills of the many doctors of osteopathic medicine hed worked with over the years.

There are plenty of things you can criticize him for, but being a D.O. isnt one of them, Morrison said.

Lauren Weber is Midwest correspondent for Kaiser Health News, a nonprofit news service covering health issues. It is an editorially independent program of KFF (Kaiser Family Foundation), which is not affiliated with Kaiser Permanente.

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President Trumps doctor is a D.O, not an M.D. Whats the difference? - Tampa Bay Times

Stellar Speakers to Make Targeting Metabesity 2020 One of the Most Important Healthy Longevity Conferences of the Year – PRNewswire

WASHINGTON, Oct. 9, 2020 /PRNewswire/ -- Building on ground-breaking conferences in London (2017) and Washington (2019), Metabesity 2020 will be held online, with an all-access free pass option, on Oct. 12-15.

Keynoters include Dr. Victor Dzau, (President of the National Academy of Medicine), Dr. Kenneth Dychtwald (Founder of Age Wave and one of America's leading gerontologist), and Lord Geoffrey Filkin (Chair of the Strategic Advisory Group of the UK All-Party Parliamentary Group for Longevity). Congresswoman Shalala, the longest-serving Secretary of Health and Human Services in history and now representing Miami-Dade County, Florida, one of the oldest demographics in the U.S., will join for a fireside chat in a session on making healthy longevity a national priority. Other speakers include Peter Stein(Director of FDA's Office of New Drugs), Luigi Ferrucci (Scientific Director of the National Institute on Aging of NIH), top researchers in geroscience, diabetes, cancer, and neurodegenerative diseases, and their peers in industry, capital markets and other stakeholders.

This unique, silo-busting conference gathers more than 70 speakers in 20 sessions and will focus on preventing chronic disease and the extension of "healthspan," the portion of life spent free of significant disease.Targeting Metabesity 2020 will also offer a full day for Longevity Sector Investors at the Shark Tank-inspired Emerging Company Showcase on Oct. 15.

Founder and Co-Chair of Metabesity 2020, Dr. Alexander Fleming commented, "We are a part of a global moonshot project to advance healthy longevity for all within the next decade. We aim to make healthy longevity a national policy and part of everyday clinical practice. In addition to presenting the amazing scientific advances, in this Pandemic year, we are spotlighting the importance of equal access to solutions and the related disparities across ethnic, gender, and socioeconomic groups."

Conference Co-chair, Stanford ProfessorDr. Lawrence Steinman, a co-discoverer of the multiple sclerosis drug, Tysabri and a number of other therapeutic approaches, added, "After several decades of stupendous progress in treating immediately life-threatening conditions, orphan and genetic disorders, and incapacitating degenerative diseases, we must turn our attention to slowing the aging process and reducing the risks of the major chronic diseases. Collectively, these diseases account for the great majority of morbidity and mortality and healthcare spending across the globe."

Conference organizer and Kinexum CEO Thomas Seoh noted, "This year's edition of Metabesity is a major milestone for the conference. A large and diverse online global audience has registered, and many more will be able to view the recorded proceedings.We are thrilled that the not-for-profit Kitalys Institute is taking the conference forward, along with related initiatives. Kitalys and the Metabesity Conference are partnering with a powerful network of academic, business, and governmental organizations to help reap the longevity dividend, a triple health, well-being and economic win for our young, our growing elderly, taxpayers, and our economy."

Conference organizer and Kitalys Institute Executive Director Adriane Berg added, "The Kitalys Institute mission is to accelerate the translation of emerging science into equitable gains in public health.We are thrilled and honored to work with the prominent speakers and motivated attendees of the Metabesity conferences to prevent or delay chronic diseases and extend healthy longevity."

To simulate the ambience and networking of previous conferences, Metabesity 2020 will include social gatherings after each day's program and a gala event on Wednesday evening. Acclaimed artists Voces8 and composer Eric Whitacre and his 17,000+ singers virtual choir will provide musical interludes. Amazing improv rapper and comedian Chris Turner will emcee the gala event.

For further information, please contact:

Adriane Berg, Executive Director, Kitalys Institute, at [emailprotected], +1 (201) 303-6517.

AlisonCockrell, Custom Management Group, at[emailprotected].

Targeting Metabesity 2020 website at http://www.metabesity2020.com

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Stellar Speakers to Make Targeting Metabesity 2020 One of the Most Important Healthy Longevity Conferences of the Year - PRNewswire

CBD Users Think Its Real Medicine That Cures Acne, AFib, Anxiety Where’s the Evidence? – SciTechDaily

Cannabidiol (CBD) is a chemical found in hemp or marijuana plants that does not make users high. Despite CBD only beingapprovedby the US Food and Drug Administration (FDA) to treat rare forms of childhood epilepsy, CBD has been widelymarketed as a cure-allunder the auspices of wellness. These claims have coincided with anexplosion in CBDs popularityraising the troubling question: Are patients using CBD to treat medical conditions that could otherwise be improved or cured by established treatments with verifiable efficacy?

A new study lead by theQualcomm Institutes Center for Data Driven Health at the University of California San Diego, published inJAMA Network Open, reviewed CBD user testimonials to discover why they take CBD, finding the vast majority used CBD to treat diagnosable medical conditions, including for psychiatric, orthopedic, and sleep conditions while fewer took CBD for wellness.

The reasons consumers take CBD had not been previously studied because experts lacked access data where large groups of users discussed in detail why they take CBD, said Dr. Eric Leas, Co-Founder of the Center for Data Driven Health, Assistant Professor in the Herbert Wertheim School of Public Health and Longevity Science at UC San Diego, and lead author.

To fill this gap the team turned to Reddit, a social media website with 330 million active users. Reddit is organized into communities focused on specific topics, many of which deal exclusively with health. The team monitored all r/CBD posts, where users can find anything and everything CBD related, from its inception in January 2014 through February 2019.

A random sample of posts was drawn and analyzed by the team who labeled them according to if the poster testified to using CBD to treat a diagnosable medical condition or using CBD for non-specific wellness benefits. On r/CBD users tell us in their own words why they take CBD, addedDr. John W. Ayers, also with the Center for Data Driven Health and Vice Chief of Innovation in the Division of Infectious Disease and Global Public Health who co-authored the study.

90 percent of testimonials on r/CBD cited using CBD to treat diagnosable medical conditions. For example, many testimonials recounted experiences such as, after using CBD for 2 months, my autism symptoms have improved. My family has noticed great improvements and I have finally been able to attend important social events.

Through a process of labeling the posts, the team grouped this subset of testimonials into 11 categories corresponding to medical subspecialties. Psychiatric conditions (e.g., autism or depression) were the most frequently cited sub-category, mentioned in 64 percent of testimonials, followed by orthopedic (26 percent), sleep (15 percent), and neurological (7 percent) conditions. There were also testimonials that claimed CBD treated addiction, cardiological, dermatological, gastroenterological, ophthalmological, oral health, and sexual health conditions, ranging from 1 to 4 percent of all posts [as detailed in the accompanying study materials].

The public appears to believe CBD is medicine, added Dr. Davey Smith, Chief of Infectious Diseases and Global Public Health and study coauthor. Who would have predicted that the public might ever think CBD is a cardiology medication?

By contrast, just 30 percent of testimonies cited using CBD for wellness benefits, the vast majority citing mental wellness, e.g., quieting my mind, and about 1 percent citing any physical wellness benefit, e.g., exercise performance.

CBD retailers attempt to evade FDA regulation by framing their product as a wellness aid, rather than a therapeutic, said Dr. Alicia Nobles, with the Center for Data Driven Health and Assistant Professor in the Division of Infectious Disease and Global Public Health. But when users explain why they take CBD in absence of any prompts they will commonly cite they are using it for medicinal purposes like to treat acne.

At this time there are no known medical uses for over-the-counter CBD, said Dr. Leas. CBD is this generations snake oil as millions believing to have discovered a new medical breakthrough are actually taking a product without evidence of a benefit.

The obvious harm is that some patients might forgo seeing a physician or taking medications with known, tested and approved therapeutic benefits in favor of CBD and thereby become sicker or succumb to their illness, added Mr. Rory Todd, study co-author and research associate in the Center for Data Driven Health.

While many think that using CBD poses few risks to consumers trying CBD out, the team notes that taking CBD can harm patients in other ways that warrant cautious use. There are several documented cases of CBD products leading to mass poisons, because unlike FDA-approved medications there are no uniform safety standards governing the manufacture or distribution of CBD, said Mr. Erik Hendrickson, study co-author and research associate with the Center for Data Driven Health. CBD can also interact with patients prescribed medications, including resulting in rare but dangerous side effects such as liver damage and male reproductive toxicity, added Dr. Smith who is also a practicing physician.

The lack of regulation governing the CBD marketplace may drive misperceptions of CBD the team notes. The public isnt spontaneously coming to the conclusion that CBD is medicine. Instead, this is a natural response to the largely unchecked marketing claims of CBD retailers, added Dr. Ayers. A lack of regulation puts the onus on physicians who must raise concerns about CBD with patients one-on-one instead of focussing on evidence-based treatments. For instance, since the COVID-19 outbreak claims that CBD prevents or treats COVID-19 are now commonplace.

Now is the time to act, concluded Dr. Leas. Government regulators must step up to the plate and give CBD the same level of scrutiny as other proven medications. Moreover, anyone considering taking CBD should instead consult a physician to identify a proven medication.

Reference: Self-reported Cannabidiol (CBD) Use for Conditions With Proven Therapies by Eric C. Leas, PhD, MPH; Erik M. Hendrickson, MPH, MA; Alicia L. Nobles, PhD, MS; Rory Todd, BA; Davey M. Smith, MD, MAS; Mark Dredze, PhD and John W. Ayers, PhD, MA, October 2020, JAMA Network Open.DOI: 10.1001/jamanetworkopen.2020.20977

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CBD Users Think Its Real Medicine That Cures Acne, AFib, Anxiety Where's the Evidence? - SciTechDaily

Watermark Aims To Be ‘Tesla of Senior Housing’ With Precision Wellness Model – Senior Housing News

Wellness has always been at the foundation of Watermark Retirement Communities business model. Now, the Tucson-based operator aims to take wellness to the next level with a precision approach.

That is, Watermark is harnessing technology, partnerships, new in-house talent, building design and novel operational approaches to support tailored wellness for each resident.

In this regard, Watermark Chairman David Freshwater compares Watermark to Tesla. He calls the automaker a technology company that just happens to make cars, and considers Watermark to be a wellness company that provides housing and services for seniors.

Were going to try to be the Tesla of senior housing, he said Wednesday during a fireside chat at Senior Housing News BUILD conference, being held virtually this week.

In recent years, senior living has increasingly shifted from a focus on taking care of peoples needs to promoting their wellness. Often, these new operational models are organized around various facets of wellness, such as physical, intellectual and spiritual.

While Watermark also believes in a multi-faceted approach to wellness, a pitfall is viewing wellness as a discrete component of how a senior living community is built and operates, Freshwater said. For instance, some senior living communities have wellness centers, which is where wellness-oriented programming occurs.

But the pursuit of wellness must be ongoing and supported across a residents entire experience, Freshwater argued.

It comes back to the idea of the whole community being a wellness center, he said.

Freshwater came to this conclusion in part through work that Watermark has done over the years with wellness pioneers based in Tucson, including Canyon Ranch and the University of Arizona Center for Integrative Medicine.

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This work began with the very first community that Watermark opened, in 1987. The University of Arizona Center for Aging approached the operator about a wellness concept it wanted to embed in a retirement community. This concept, Project AgeWell, set Watermark on a path of incorporating wellness throughout its building designs and operations.

As Watermark grew and evolved, its commitment to wellness did not waver, but wellness was not necessarily a core component of every project as it had been at the first community. Another turning point came in 2005, when Watermark held a forum with some leading minds in wellness and added a new dimension of wellness to those typically considered. This additional dimension was focused on the built environment.

Today, Watermarks portfolio encompasses 60 communities with 12 under development, and is creating communities to support wellness through all aspects of design. This not only includes major efforts such as having wellness-oriented restaurants but must extend to some less obvious areas such as landscaping. One example Freshwater gave was the decision to eliminate the use of chemical weedkillers. Because its more difficult to keep weeds in check through other methods, there are occasionally weeds in the landscaping, so sales staff had to be educated that this is a feature to sell residents on, not a source of embarrassment.

Likewise, the landscaping is designed to blend with the existing environment; if a community is located in a desert, designs often let the desert extend all the way to the back doors of apartments.

So the operator spends time educating its residents about the possible natural dangers they may encounter in such an environment. Freshwater noted that it is not uncommon for residents in Watermarks desert communities to find rattlesnakes on their back decks. Rather than compromising wellness-oriented design for the sake of preventing such incursions, the providers philosophy calls for education and common sense.

That rattlesnake isnt going to bite you just call maintenance and well move it, Freshwater said, referring to the message conveyed to residents.

Watermark is taking a measured approach to rethinking building design in the Covid-19 era. Freshwater is cognizant that certain aspects of a buildings plant will have to change, such as HVAC systems. But the operator is looking at ways to retrofit designs that accommodate permanent changes stemming from the coronavirus, without acting rashly.

Were not going to be knee jerk and saying, lets put up plexiglass, Freshwater said.

He envisions the permanent changes Covid-19 will bring to the built environment will be similar to the safety measures enacted by the airline industry after the September 11, 2001 terrorist attacks such as tighter safety checkpoints and procedures at airports and reinforced metal doors on airplanes preventing access to cockpits.

Watermark views the pandemic as an opportunity to get granular and study what can be implemented in communities that strikes a balance between the services residents pay for with enhanced safety in the event of another mass outbreak.

And many of the approaches are simple. Watermark is looking at spacing dining rooms to encourage social interaction while compartmentalizing residents into smaller groups. The company is reviewing outdoor space in warm-weather communities to determine methods to seamlessly move from indoors to outdoors, such as indoor-outdoor exercise classes.

Community restrictions that Watermark enacted during the pandemics early weeks laid bare the need for resident engagement a core pillar of the operators E4 wellness strategy. (The other pillars are essence, enhance and embody.) The framework is being developed with leadership from Aras Erekul, who worked for Canyon Ranch before joining Watermark.

To Freshwater, a key principle of the approach is that keeping residents safe is not the same as keeping them well.

We could tell in our own communities that we really needed to somehow find a way to get people engaged again, he said.

As the pandemic persists, Watermark is looking at ways to tailor and scale its wellness programs to a larger resident population, and technology will play a role. The operator is adapting its Watermark University program in which residents, staff and families host classes rooted in their passions so that classes will be available to residents either on demand or in real-time, virtual settings.

Watermark has precedent in doing this. The operator once launched the Fountains Club, a wellness program at its CCRCs which opened its slate of amenities to seniors living outside the campus. The program was well received, with up to 200 people from the outside community participating.

It was a win-win for the community because it allowed us to have more vibrant programming and a broader offering for our residents, Freshwater said.

Moving forward, partnerships will play a pivotal role in achieving Watermarks wellness goals and this is an area where he noted the industry as a whole needs to improve. Watermark entered a partnership with the longevity center at UCLA, where the operator is opening a community on campus, and is exploring other partnerships with research centers, hospital groups and wellness specialists.

In Freshwaters view, wellness must not be simply medical. It can also involve arts, culture, music anything that can enhance the services it provides to residents, it will consider.

There are literally thousands of affiliations that we could have been cultivating, he said. If you have more minds approaching a topic, youre going to do better at it than if you just stay myopic.

Precision wellness is a demanding operational model that at its most robust requires dedicated staff members. Communities that are part of Watermarks high-end Elan brand, which includes a high-profile New York City project that is soon to welcome its first residents, do staff at this higher level.

But, advancements in technology and the embrace of tech driven by Covid-19 also open up new possibilities for bringing wellness to more affordable communities, Freshwater believes. For instance, being able to share wellness programming across various communities through virtual platforms creates cost efficiencies.

Covid-19 gives me hope that wellness isnt a luxury, Freshwater said.

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Watermark Aims To Be 'Tesla of Senior Housing' With Precision Wellness Model - Senior Housing News

C.S. Mott Center teams with Chinese university to create new International Women Health Research Program – The South End

The C.S. Mott Center for Human Growth and Development at the Wayne State University School of Medicine has teamed with the Institute of Reproductive Health of Tongji Medical College at Huazhong University of Science and Technology in Wuhan, China, to establish the International Women Health Research Program.

The goal of the new collaboration is to improve womens treatment and care, particularly in the areas of cancer and reproductive health.

Maternal mortality, pregnancy complications such as preeclampsia and recurrent abortions, gynecologic cancers and infertility are still major global problems that can only be improved by international collaborations, said Gil Mor, M.D., Ph.D., director of the Mott Center and the John M. Malone Jr., M.D., Endowed Professor of Obstetrics and Gynecology. A womans reproductive aspects have a major impact not only on her health, but on the health of her children. The International Women Health Research Program will achieve its objectives by enhancing the education of health providers, investigators, students and general public.

Because the programs success depends on improving the education of physicians and researchers involved in multiple aspects of womens health, training investigators to develop novel approaches

for diagnosis and treatment, and educating the general population on the complex aspects related to reproduction and womens health, a key component of the collaboration includes exchange programs in which trainees, physicians and scientists train at the two participating institutions.

To date, in addition to developing three courses in reproductive immunology and one in ovarian cancer, the program has mentored 11 students in Wuhan, with two trained at WSU.

Under an internship program, physicians selected for the program are trained in the design and conduct of clinical and translational research in a 12-month program at the WSU School of Medicine. The partnership also includes support for training post-doctoral fellows for two years and the exchange of speakers for seminars at both institutions.

Throughout September, WSU and Huazhong University of Science and Technology virtually hosted a four-part lecture series for faculty of both schools featuring Dr. Mor speaking on reproductive immunology, implantation, infection in pregnancy and fetal-maternal immune interaction.

The collaboration has published eight papers, with more in various stages of pre-publication, and has secured one grant.

The universities held their first International Symposium for Reproductive Immunology and Genetics in Wuhan on May 18, 2017.

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C.S. Mott Center teams with Chinese university to create new International Women Health Research Program - The South End

A tiny particle collider yields new evidence for a type of ‘quasiparticles’ called anyons – Massive Science

The president has had a life-threatening, infectious disease for over a week, and he and his doctors havent been very transparent about the timeline and course of his affliction. In lieu of detailed disclosures, reporters have to piece together his condition based on the treatments hes been receiving.

Trump was started off on an experimental therapeutic an antibody cocktail and then advanced to another remdesivir. The other biomolecules coursing through Donald Trump's system (and this week's headlines) are corticosteroids, called dexamethasone.

You may have heard of cytokine storms, where the body's immune response to severe COVID-19 bombards healthy cells, making the illness worse. Trump has been given dexamethasone, an immuno-supressant that doctors prescribe to temper that effect. Unlike the other experimental treatments, dexamethasone is common and somewhat easy to access. However, it is rarely administered to a patient with a case as (self-)reportedly mild as Donald Trumps. In an interview with New York Magazine's Intelligencer, the co-author of a recent study testing dexamethasone elaborates:

That lack of evidence is concerning as Trump heads into a critical point in the course of his illness. COVID-19 is known for being a bit of a roller coaster, with intermittent fevers, mysterious symptoms, and rapid declines. Abraar Karan, a physician with experience treating patients with COVID-19, told Monique Brouillette at Scientific American that some people have turned corners and left the hospital, only to come back feeling much sicker, with even worse oxygen levels and possibly other harm to the bodys organs.

It is theoretically possible that the early steroid treatment may ward off a dangerous auto-inflammatory reaction. But beyond the inherent risks of immuno-supression, corticosteroids may also cause behavioral side effects in the President. Trump's cognitive and behavioral state has been a point of concern for years. Potent steroids such as dexamethasone are known to increase appetite, decrease restful sleep, and bring about heightened "maniacal" energy states.

As the nation enters the weekend, Speaker of the House Nancy Pelosi is rolling out a 25th amendment commission, Trump is boasting a miraculous recovery with a Fox News doctor, and the rest of us continue to wait and learn how biology will run its course. For better or worse, the side effects our president experiences may prove to have historical consequences. To my knowledge, roid rage has never been a factor in nuclear geopolitics.

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A tiny particle collider yields new evidence for a type of 'quasiparticles' called anyons - Massive Science

Found: genes that sway the course of the coronavirus – Science Magazine

A study of some of the sickest COVID-19 patients, such as those placed on ventilators, has identified gene variants that put people at greater risk of severe disease.

By Jocelyn KaiserOct. 13, 2020 , 1:25 PM

Sciences COVID-19 reporting is supported by the Pulitzer Center and the Heising-Simons Foundation.

Its one of the pandemics puzzles: Most people infected by SARS-CoV-2 never feel sick, whereas others develop serious symptoms or even end up in an intensive care unit clinging to life. Age and preexisting conditions, such as obesity, account for much of the disparity. But geneticists have raced to see whether a persons DNA also explains why some get hit hard by the coronavirus, and they have uncovered tantalizing leads.

Now, a U.K. group studying more than 2200 COVID-19 patients has pinned down common gene variants that are linked to the most severe cases of the disease, and that point to existing drugs that could be repurposed to help. Its really exciting. Each one provides a potential target for treatment, says genetic epidemiologist Priya Duggal of Johns Hopkins University.

In a standard approach to finding genes that influence a condition, geneticists scan the DNA of large numbers of people for millions of marker sequences, looking for associations between specific markers and cases of the disease. In June, one such genomewide association study in The New England Journal of Medicine (NEJM) found two hits linked to respiratory failure in 1600 Italian and Spanish COVID-19 patients: a marker within the ABO gene, which determines a persons blood type, and a stretch of chromosome 3 that holds a half-dozen genes. Those two links have also emerged in other groups data, including some from the DNA testing company 23andMe.

The new study confirmed the chromosome 3 regions involvement. And because 74% of its patients were so sick that they needed invasive ventilation, it had the statistical strength to reveal other markers, elsewhere in the genome, linked to severe COVID-19. One find is a gene called IFNAR2 that codes for a cell receptor for interferon, a powerful molecular messenger that rallies the immune defenses when a virus invades a cell. A variant of IFNAR2 found in one in four Europeans raised the risk of severe COVID-19 by 30%. Baillie says the IFNAR2 hit is entirely complementary to a finding reported in Science last month: very rare mutations that disable IFNAR2 and seven other interferon genes may explain about 4% of severeCOVID-19 cases. Both studies raise hopes for ongoing trials of interferons as a COVID-19 treatment.

A more surprising hit from the U.K. study points to OAS genes, which code for proteins that activate an enzyme that breaks down viral RNA. A change in one of those genes might impair this activation, allowing the virus to flourish. The U.K. data suggest there is a variant as common and influential on COVID-19 as the interferon genetic risk factor.

Other genes identified by Baillies team could ramp up the inflammatory responses to lung damage triggered by SARS-CoV-2, reactions that can be lethal to some patients. One, DPP9, codes for an enzyme known to be involved in lung disease; another, TYK2, encodes a signaling protein involved in inflammation. Drugs that target those two genes proteins are already in useinhibitors of DPP9s enzyme for diabetes and baricitinib, which blocks TYK2s product, for arthritis. Baricitinib is in early clinical testing for COVID-19, and the new data could push it up the priority list, Baillie says.

The chromosome 3 region still stands out as the most powerful genetic actor: A single copy of the disease-associated variant more than doubles an infected persons odds of developing severe COVID-19. Evolutionary biologists reported last month in Nature that this suspicious region actually came from Neanderthals, through interbreeding with our species tens of thousands of years ago. It is now found in about 16% of Europeans and 50% of South Asians.

But the specific chromosome 3 gene or genes at play remain elusive. By analyzing gene activity data from normal lung tissue of people with and without the variant, the U.K. team homed in on CCR2, a gene that encodes a receptor for cytokine proteins that play a role in inflammation. But other data discussed at last weeks meeting point to SLC6Z20, which codes for a protein that interacts with the main cell receptor used by SARS-CoV-2 to enter cells. I dont think anyone at this point has a clear understanding of what are the underlying genes for the chromosome 3 link, says Andrea Ganna of the University of Helsinki, who co-leads the COVID-19 Host Genetics Initiative.

The U.K. genetics study did not confirm that the ABO variants affect the odds of severe disease. Some studies looking directly at blood type, not genetic markers, have reported that type O blood protects against COVID-19, whereas A blood makes a person more vulnerable. It may be that blood type influences whether a person gets infected, but not how sick they get, says Stanford University geneticist Manuel Rivas. In any case, O blood offers at best modest protection. There are a lot of people with O blood that have died of the disease. It doesnt really help you, says geneticist Andre Franke of the Christian-Albrecht University of Kiel, a coleader of the NEJM study.

Researchers expect to pin down more COVID-19 risk genesalready, after folding in the U.K. data plumbed by Baillies team, the COVID-19 Host Genetics Initiative has found another hit, a gene called FOXP4 implicated in lung cancer. And in a new medRxiv preprint posted last week, the company Ancestry.com reports that a gene previously connected to the effects of the flu may also boost COVID-19 susceptibility only in men, who are more likely to die of the disease than women.

Geneticists have had little luck so far identifying gene variants that explain why COVID-19 has hit Black people in the United States and United Kingdom particularly hard. The chromosome 3 variant is absent in most people of African ancestry. Researchers suspect that socioeconomic factors and preexisting conditions may better explain the increased risks. But several projects, including Baillies, are recruiting more people of non-European backgrounds to bolster their power to find COVID-19 gene links. And in an abstract for an online talk later this month at the American Society of Human Genetics annual meeting, the company Regeneron reports it has found a genome region that may raise the risk of severe disease mainly in people of African ancestry.

Even as more genetic risk factors are identified, their overall effect on infected people will be modest compared with other COVID-19 factors, Duggal says. But studies like the U.K. teams could help reveal the underlying biology of the disease and inspire better treatments. I dont think genetics will lead us out of this. I think genetics may give us new opportunities, Duggal says.

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Found: genes that sway the course of the coronavirus - Science Magazine

Foundation to Fight H-ABC, University of Massachusetts Medical School and Yale University Initiate Gene Therapy Study Targeting Cure for Rare Disease…

ROCKVILLE, Md., Oct. 13, 2020 /PRNewswire/ --Foundation to Fight H-ABC, a non-profit organization dedicated to increasing awareness and driving development of a cure for the degenerative children's disease, H-ABC, today announced a sponsored research agreement with the University of Massachusetts Medical School and Yale University to advance a targeted gene therapy for H-ABC.

"We have high hopes to quickly prove efficacy with this approach to move research forward and find a permanent cure for this devastating disease," said Michele Sloan, Co-Founder, Foundation to Fight H-ABC.

H-ABC (hypomyelination with atrophy of the basal ganglia and cerebellum) belongs to a group of conditions called leukodystrophies, diseases that affect the white matter of the brain. These diseases disrupt the growth or maintenance of the myelin sheath, a protective layer that insulates nerve cells and allows for the transmission of messages between cells.

Caused by a mutation in the TUBB4A gene, H-ABC is a rare genetic disorder that affects certain parts of the brainspecifically the basal ganglia and the cerebellum, which control movement. H-ABC targets these important structures, reducing both their size and function. As a result, children who suffer from H-ABC often experience motor problems, cannot walk, talk, or sit on their own. Currently, there is no known cure for this disabling and life-threatening condition.

The teams of Dr. Guangping Gao (University of Massachusetts Medical School) and Dr. Karel Liem (Yale School of Medicine) will combine extensive expertise in the fields of Adeno-associated virus (AAV), a platform for gene delivery for the treatment of a variety of human diseases and H-ABC disease models, to develop AAV vectors to silence or outcompete the mutated TUBB4A gene.

"To date, AAV-based gene delivery system is the vector of choice for in vivo gene therapy of many currently untreatable rare diseases including H-ABC," said Guangping Gao, Ph.D. "We are very excited for starting close collaborations with Dr. Liem's team at Yale and the Foundation to Fight H-ABC to develop potential gene therapeutics for this devastating disease."

"With the support from the Foundation to Fight H-ABC, we are excited to build upon our mechanistic studies of the disease and to collaborate with Dr. Gao of the University of Massachusetts to develop and test AAV approaches to H-ABC," saidKarel F Liem Jr., M.D., Ph.D.

For more information, please visit https://www.h-abc.org/donate.

CONTACT: Sawyer Lipari, [emailprotected]

SOURCE Foundation to Fight H-ABC

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Foundation to Fight H-ABC, University of Massachusetts Medical School and Yale University Initiate Gene Therapy Study Targeting Cure for Rare Disease...

Health Canada approves first-ever gene replacement therapy, Luxturna – Canada NewsWire

Inherited retinal dystrophies (IRDs) are a group of blinding conditions caused by mutations in more than 270 different genes, including the RPE65 gene3. RPE65-mediated IRDs often disproportionally affect children and young adultsand cause progressive vision loss, leading to complete blindness in almost all patients2. Luxturna is designed to provide functioning copies of theRPE65gene to act in place of mutatedRPE65genes2.These functioning genes produce the RPE65 protein to help improve vision and prevent progression towards total blindness2.

"The effects of RPE65-mediated inherited retinal diseases can be life-changing. Previously, there was no treatment available and the progression towards complete blindness was inevitable." said Dr. Elise Hon, an Ophthalmologist in the Department of Ophthalmology and Vision Sciences and the Director of the Eye Genetics Program at The Hospital for Sick Children (SickKids) in Toronto. "This approval is a very important step forward in the treatment of genetic eye disorders."

Due to the highly specialized nature of the therapy, Novartis is collaborating with key centres and their multidisciplinary teams to deliver Luxturna to patients across Canada: SickKids in partnership with Sunnybrook Health Sciences Centre in Ontario, and Montreal Children's Hospital, McGill University Health Centre in partnership with Maisonneuve-Rosemont Hospital (HMR), Centre intgr universitaire de sant et de services sociaux (CIUSSS) de l'Est-de-l'le-de-Montral, affiliated with Universit de Montral in Quebec.

"Being part of tremendous innovations in the treatment of certain eye conditions over the past decades has been incredibly rewarding. Gene therapy heralds the start of a new era for IRDs and I'm thrilled to be part of this historic moment and equally excited to be able to give patients a chance to regain sight with Luxturna," said Dr. Peter Kertes, retina surgeon and Ophthalmologist-in-Chief, Sunnybrook Health Sciences Centre and staff ophthalmologist at SickKids in Toronto.

The current standard of care for people born with IRDs caused by RPE65 gene mutations is supportive in nature and focuses on monitoring, psychological support, mobility training and visual rehabilitation4. Until now, no pharmacological treatment option was available to treat the underlying disease mechanism or alter the natural history of inherited retinal dystrophies. While a genetic test is needed to confirm that vision loss is caused by mutations in theRPE65gene2, it can be a lengthy process to access testing and counselling. Novartis has entered into a partnership with Blueprint Genetics to help facilitate genetic testing where appropriate in order to validate the diagnosis.

"The approval of the first gene replacement therapy for Canadians is historical. We have been waiting for this moment in the vision community for decades. To be able to tell a parent that their child's impaired sight could now be restored or improved is remarkable,' said Doug Earle, President & CEO of Fighting Blindness Canada. "We welcome this medical innovation and hope that Canadians in need of this therapy have access to it without delay."

"Novartis is proudly reimagining medicine by bringing forward innovations like Luxturna. Today's approval will have a significant impact on patient care," said Andrea Marazzi, Country Head, Novartis Pharmaceuticals Canada. "We are grateful to the vision community for rallying behind Canadians who are impacted by vision impairment and vision loss and we are committed to helping them gain access to this game-changing gene therapy as quickly as possible."

AboutRPE65mutation-associated inherited retinal dystrophyMutations in both copies of theRPE65gene affect approximately 1 in 200,000 people and can lead to blindness5,6. Early in the disease patients can suffer from night blindness (nyctalopia), loss of light sensitivity, loss of peripheral vision, loss of sharpness or clarity of vision, impaired dark adaptation and repetitive uncontrolled movements of the eye (nystagmus)6. Patients with mutations in both copies of theRPE65gene may be diagnosed, for instance, with subtypes of either Leber congenital amaurosis or retinitis pigmentosa7.

About Novartis in Cell & Gene TherapyNovartis is at the forefront of cell and gene therapies designed to halt diseases in their tracks or reverse their progress rather than simply manage symptoms. The company is collaborating on the cell and gene therapy frontier to bring this major leap in personalized medicine to patients with a variety of diseases, including genetic disorders and certain deadly cancers. Cell and gene therapies are grounded in careful research that builds on decades of scientific progress. Following key approvals of cell and gene therapies by health authorities, new treatments are being tested in clinical trials around the world.

About Novartis in CanadaNovartis Pharmaceuticals Canada Inc., a leader in the healthcare field, is committed to the discovery, development and marketing of innovative products to improve the well-being of all Canadians. In 2019, the company invested $51.8 million in research and development in Canada. Located in Dorval, Quebec, Novartis Pharmaceuticals Canada Inc. employs approximately 1,500 people in Canada and is an affiliate of Novartis AG, which provides innovative healthcare solutions that address the evolving needs of patients and societies. For further information, please consult http://www.novartis.ca.

About Novartis globallyNovartis is reimagining medicine to improve and extend people's lives. As a leading global medicines company, we use innovative science and digital technologies to create transformative treatments in areas of great medical need. In our quest to find new medicines, we consistently rank among the world's top companies investing in research and development. Novartis products reach more than 750 million people globally and we are finding innovative ways to expand access to our latest treatments. About 109,000 people of more than 145 nationalities work at Novartis around the world. Find out more at http://www.novartis.com.

Luxturna is a registered trademark of Spark Therapeutics Inc., used under license by Novartis Pharmaceuticals Canada Inc.

References

1.

Novartis Pharmaceuticals Canada Inc. Luxturna(voretigene neparvovec) Product Monograph. October 13, 2020.

2.

Russell S et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65- mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. The Lancet 2017; 390:849-860

3.

RetNet. Summaries of genes and loci causing retinal diseases. Available at: https://sph.uth.edu/retnet/sum-dis.htm.

4.

National Institute for Health and Care Excellence (NICE). Voretigene neparvovec for treating inherited retinal dystrophies caused by RPE65 gene mutations [ID1054]2018:199/799

5.

Novartis. Data on file. 2018.

6.

Astuti GD et al. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. European Journal of Human Genetics 2016; 24: 107179.

7.

Morimura H et al. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proceedings of the National Academy of Sciences of the USA. 1998; 95: 308893.

SOURCE Novartis Pharmaceuticals Canada Inc.

For further information: Novartis Media Relations: Julie Schneiderman, +1 514 633 7873, E-mail: [emailprotected]

http://www.novartis.ca

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Health Canada approves first-ever gene replacement therapy, Luxturna - Canada NewsWire

Making sense of genetic disease in dogs and cats – American Veterinary Medical Association

Understanding genetic disease in mixed-breed and purebred dogs and cats can bring about more effective treatments and better client service, says clinical geneticist and general practitioner Dr. Jerold Bell.

If we understand the genetic background of our patients, were better positioned to prevent, to mitigate, or to alter the expression of genetic disease, allowing our patients to be healthier in their lifetimes as well as to breed healthier dogs and cats, Dr. Bell said.

An adjunct professor at the Cummings School of Veterinary Medicine at Tufts University, Dr. Bell spoke about genetic diseases during the AVMA Virtual Convention 2020 this August. In addition to his teaching duties, Dr. Bell works as a solo practitioner, and he sees dogs and cats all day long and sees genetic disease in our patients all day long.

He explained that common genetic disorders are caused by ancient disease liability genes that preceded breed formation. Since these mutations occurred long before the separation of breeds, these diseases are seen across all breeds and in mixed breeds.

The most common hereditary diseases in dogs are allergies, followed by hip and elbow dysplasia; inherited cancers such as lymphoma, hemangiosarcoma, mast cell tumor, and osteosarcoma; patella luxation; nonstruvite bladder stones; hypothyroidism; mitral valve disease; inflammatory bowel disease; diabetes mellitus; retained testicles; and umbilical hernias.

In cats, the most prevalent genetic diseases are inflammatory cystitis, then feline urological syndrome, diabetes mellitus, lymphoplasmocytic gingivostomatitis, nonstruvite bladder stones, allergies, eosinophilic skin disease, and inflammatory bowel disease.

Disease is not a function of homozygosity, which happens when identical DNA sequences for a particular gene are inherited from both biological parents, nor is it a consequence of inbreeding. Rather, Dr. Bell explained, hereditary diseases are a result of the accumulation and propagation of specific disease liability genes. Breed-related deleterious genes accumulate in various ways, including direct selection for disease-associated phenotypes, linkage to selected traits, carriage by popular sires, genetic drift, andmost importantlythe absence of selection against deleterious phenotypes.

If we dont select for healthy parents to produce offspring, then we have no expectation of health in those offspring, Dr. Bell said. Not selecting for health is selecting for disease, and we need to understand that and pass that on to our breeder clients.

On the topic of disease and extreme phenotypes, Dr. Bell said brachycephalic obstructive airway syndrome is frequently diagnosed at veterinary clinics on account of the popularity of certain brachycephalic dog breeds, namely Pugs, French Bulldogs, and Bulldogs. Most breed standards do not call for the expression of extreme phenotypes, he said, nor do they select for the most extreme size or the most extreme brachycephalic trait.

Moderation away from extremes that cause disease should be the guiding principle in breeding, Dr. Bell noted, and in judging dog shows.

Common genetic diseases seen in mixed-breed dogs and cats occur randomly because of dispersed ancient liability genes, according to Dr. Bell. Uncommon and breed-specific recessive or complexly inherited disease is far less likely to occur in mixed-breed individuals.

Dr. Bell said designer-bred dogs and cats often have inherited diseases common in random-bred populations. They can also inherit disease liability genes shared by the parent breeds or parent species. So if youre breeding short-statured breeds together, it wouldnt be surprising to see patellar luxation, or in smaller toy size breeds, to see mitral valve disease, he said.

Hereditary disease manifests as a result of anatomical mismatch between parent breeds. We see a lot of this in dental disease, where we see crowding of teeth and malocclusions and misplaced teeth, Dr. Bell continued. Even in the musculoskeletal, if you breed two breeds with different body types together, we may see degenerative joint disease and poor joints. All of these things, all need to be monitored.

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Making sense of genetic disease in dogs and cats - American Veterinary Medical Association

Identifying Genetic Variants, Matching With Targeted Therapies Serve as Next Great Challenge With Germline Testing in Oncology – OncLive

The revolution of genetic testing has led to more accurate and widespread assays for patients with cancer; however, as more genetic variants are identified, it has become a greater challenge to determine the optimal treatment for an individual patient, according to GouthamNarla, MD, PhD.

As we sequence more genes, we will have more information, which is a good thing, said Narla. Of course, we will also find more variants that, at this time, we don't know whether they're pathogenic or benign. They get lumped into the uncertain category, which creates uncertainty for patients and for providers, as well.

In an interview withOncLiveduring the 2020 Institutional Perspectives in Cancer (IPC) webinar on Precision Medicine, Narla, an associate professor in the Department of Medicine; chief of the Division of Genetic Medicine, Department of Medicine; and associate director of the Medical Scientist Training Program, University of Michigan, further discussed the utility of genomic testing and updates in next generation sequencing (NGS).

OncLive: Could you discuss the key advances in cancer genetics? What are some of the mechanisms that have driven its development?

Narla: A couple of major advancements we've seen in cancer genetics is the identification of additional disease-causing variants. It used to be when I first trained as a medical geneticist, we really only knew about BRCA1/2 and some of the mismatch repair genes. Now, we know about other genes, including PALB2, and other members and genes in that family. That has expanded the testing opportunities for our patients.

The other aspect that has been very exciting is now some of these gene variants are predictive of response to therapies. We have therapies that can be specifically used and work for patients who harbor some of these germline variants. That has really changed the way in which we have treated patients who carry these variants.

What are some of the recent developments in NGS?

Previously, we were doing single-gene testing, oftentimes by Sanger sequencing. Now, we can do large panels of genes depending upon the company and the panel; these comprise anywhere from 60 to 70 genesin some cases, several thousand genes. It has allowed us to collect vast amounts of sequencing information. Some of it will not be directly actionable now, but it still fuels research opportunities for us at major academic medical centers, and when more knowledge [is] gained, we go back to some of those sequencing results to see if, in fact, there was something that is now actionable based upon new knowledge.

How are we using this information to develop targeting strategies?

A lot of the approaches that we are using now may not involve the directly targeting the defective gene or protein, but they are leveraging knowledge about how that defective gene or protein causes activation of targetable pathways. For example, when it comes to BRCA1 loss, that creates a unique opportunity to use a PARP inhibitor in a synthetic lethal interaction, where those cells become highly dependent upon that enzyme. Then, you can inhibit with small molecules [or perhaps] approved PARP inhibitors, such as olaparib (Lynparza), and others for which there are now [a number of approved drugs that can target] a range of BRCA-deficient metastatic tumors.

How else has genomic testing evolved?

The evolution has been both in the number of individuals that we test, as well as how many genes we test. [For example, we used to] test families in which there are numbers of individuals who have cancer and we had a strong pretest probability that they would have a germline variant. Now, in fact, every patient with metastatic ovarian cancer, regardless of family history, gets tested. This is because we have PARP inhibitors for them. It not only has implications for their family but it also has implications for their treatment choices.

What guidelines have been helpful to your practice as it relates to genomic testing?

There are a number of organizations from the American Cancer Society to National Cancer Institute and the National Comprehensive Cancer Network (NCCN) that have very robust guidelines on who to test. There is also a little bit of subjectivity in making an appraisal with a genetics professional, meaning a genetic counselor or a medical geneticist, because not every family will fit the structure or will even know the entirety of their family history. There is some nuance to this, but there are definitely very established guidelines that exist and that we use when making these types of decisions.

However, the NCCN guidelines are very good and are used by [our institution. Then we apply our own nuances when we see the patient on a case by case basis. But, [in terms of] informing who should be tested and who should not, and which individual in the family should be [tested], the NCCN guidelines are a very good [resource].

What challenges could be addressed with future research?

I would like to see more of an effort to share data across all institutions and testing companies to reclassify these variants. I would like to see more basic science and translational science around what we call variant reclassification, so that we can really make definitive calls about the sequence changes that we see. The more genes we sequence, the more variants we find, and on larger panels, [we can see these uncertain variants in up to] 20% of patients. We're finding something in a gene, but we don't know whether it's good or bad for the patient.

Are there any new capabilities or technologies emerging that you find particularly exciting?

From a technology perspective, the last 10 years in sequencing has been a revolution; the cost of sequencing has come down and the accuracy has gone up. I'm not sure that we're going to see that much more of a revolution in the sequencing technology; it will be more efficient and more cost effective. We're [going to see] the identification of new genes associated with disease [and will therefore] it will be in the variant reclassification space.

What testing or sequencing studies are of particular interest?

One type of study that has read-out recently comprise the effectiveness of immunotherapy in patients who have mismatch repair deficient tumors. That has been really game-changing for those patients. The other major study is the use of PARP inhibitors in BRCA-mutant tumorsoriginally in the second- and third-line settings of ovarian cancer. [PARP inhibitors] have now moved to maintenance [therapy], pancreatic cancer, prostate cancer, and others. That has changed the management of patients with BRCA-positive tumors.

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Identifying Genetic Variants, Matching With Targeted Therapies Serve as Next Great Challenge With Germline Testing in Oncology - OncLive

‘I never saw stars before’: Gene therapy brings back 8-year-old Canadian boy’s sight – CTV News

TORONTO -- For the thousands of Canadians at risk of blindness, eight-year-old Sam is a beacon of hope.

He is the first Canadian to be treated with gene replacement therapy for a rare form of blindness which had left Sam unable to see sky on a cloudy day, and unable to make out shapes in the dark.

Sometimes you have to walk in the night and I couldnt see things and you bump into things, Sam told CTV News.

He had to have lights on always, and had trouble seeing his shoes or objects on the floor. And the condition was progressive, meaning things would get worse as he grew older -- a daunting prospect when there was no treatment available.

But now he can see cloudy skies, shoes and more. The best part of his improved vision, says Sam, are the stars at night.

I never saw stars before, he said. And I also never saw airplanes flying at night.

He was diagnosed after birth with a genetic disorder called retinitis pigmentosa, a form of genetic retinal degeneration resulting from mutations in the RPE65 gene.

You lose perception of light, Dr. Elise Heon, of Sick Kids Hospital, explained to CTV News. You end up in darkness and [its] slowly progressive, it's relentless, your visual field shrinks and shrinks and shrinks and shrinks.

Retinitis pigmentosa (RP) affects between 1 in 3,500 to 1 in 4,000 Canadians, according to Fighting Blindness Canada. It actually refers to a group of disorders, as there are numerous versions of RP depending on which pair of genes are damaged. More than 64 genes have been identified by scientists as potentially having mutations that cause RP.

Now, Canada has approved the first-ever gene replacement therapy for this form of blindness. Sick Kids Hospital has 29 children in its program with this mutation. The drug can be used on children and adults with the condition, but the earlier its used, the more sight it will save, doctors believe.

It's a huge deal, because for these patients before, theres no treatments, Heon said.

She said she had recently met two patients, brothers, who were suffering the same problem as Sam, and for the first time, she was able to provide hope.

They're 10 years old, and they're losing their vision, she said. If we do nothing, they're just going, fine, they'll just end up with no light reception. So for the first time [we were] able to say, well, actually we need to have a discussion. And it was just, it was priceless.

The gene therapy, which goes by the brand name Luxturna, was developed in the U.S by the drug company Spark Therapeutics.

It works by placing a copy of the healthy gene into inactivated viruses, which are then injected into the retina. The gene then allows cells to produce the necessary protein to convert light into an electrical signal in the retina in order to provide healthy vision and prevent progression of the disease.

It is the first targeted gene therapy to be approved by Health Canada, which gave it the all-clear this week.

Back in 2019, Sam and his family travelled to the U.S to get the new gene therapy because it wasnt available in Canada yet.

His mother, Sarah Banon, noticed changes quickly.

About a week later, I noticed he could get dressed by [himself], she said. He could get his shoes on by himself, independently.

His improvements have continued in the year since he first received the gene therapy.

He is so much more confident, his mother told CTV News. Like getting dressed by himself, matching clothes, doesnt have to have things enlarged. Being able to [see], even when its dark outside, no lights on and it is a cloudy day. He would have to, at school, keep the lights on.

Now he is able to function as a normal child.

With the approval of this gene therapy in Canada, doctors are hoping to be able to use it on more patients who qualify -- and the earlier the better.

Dr. Peter Kertes, a vitreo-retinal surgeon and Ophthalmologist-in-Chief at Sunnybrook Health Sciences Centre, told CTV News that the approval of the therapy is fantastic.

This is a huge breakthrough, he said. Most of the advances that we have in medicine are incremental. Every once in a while, once in a generation, something revolutionary like this comes along that really changes the course of therapy.

Luxturna specifically treats individuals with biallelic mutations of the RPE65 gene -- meaning they have mutations in that gene stemming from both parents -- which manifests as either RP or Leber congenital amaurosis (LCA). Its a very small patient group compared to the entirety of Canadians with inherited retinal diseases.

This may be just one gene therapy for one condition, but it will open to the door to this strategy being used in other scenarios, Kertes pointed out.

This is the tip of the iceberg. I think this is a vector that will prove to be very effective and holds great promise, he said. I think many people who are living with blindness or facing blindness, have much to look forward to. I think we're on the cusp of a revolution in this group of diseases.

The company licensing the therapy, Novartis Pharmaceuticals Canada Inc., isnt detailing the cost, but based on the price in the U.S it could top $1.1 million in Canada, making it among the most expensive drugs in the country.

The therapy is currently under review by both the Canadian Agency for Drugs and Technologies in Health (CADTH) and the Institut national dexcellence en sant et en services sociaux (INESSS).

Novartis said in a statement that they look forward to receiving their recommendations following Health Canadas approval.

They said they are eager to help eligible Canadians affected by this rare disease gain access to the first-ever gene replacement therapy as quickly as possible.

The Patented Medicine Prices Review Board will be disclosing their new guidelines in terms of capping drug prices in an online media briefing this Thursday.

As this will likely be the first of many gene replacement therapies -- with similarly high price tags -- Ottawa and the provinces will have to make the decision on whether it will be covered by provincial health plans. The question is an ongoing ethical debate, with some saying that drug companies will only take advantage of it if governments show that they are willing to pay.

Should it be the responsibility for the government to pay for any drug at any price? Marc-Andr Gagnon, a researcher with Carleton University who looks into pharmaceutical policy, told CTV News. The problem is, if we say yes to this question, you can be sure that the day after, all the drugs in the market will be asking for much higher prices.

Its a very expensive drug, Heon acknowledged.

However, she pointed out that this is a rare disease, and its not a recurrent treatment. Its a one-time injection to the eyes.

You treat both eyes and then thats it, she said.

To be able to change someone's life is quite a privilege. And to be able to prevent someone from going blind is a real privilege.

For Sam and his mother, the gift of independence has been priceless.

This is a story of hope, his mother said. A child told it is what it is.

And now, when he looks up at night, he can see stars.

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'I never saw stars before': Gene therapy brings back 8-year-old Canadian boy's sight - CTV News

Global Genes and Rady Children’s Institute for Genomic Medicine Partner to Develop Next-Generation Support Network for Families With Diagnosed…

ALISO VIEJO, Calif.--(BUSINESS WIRE)--As gene-based diagnostics are shortening the path to an accurate diagnosis, the risk of disparities in service and support have increased. To reduce those disparities, Global Genes, a leading rare disease patient advocacy organization, is pleased to announce a new partnership with Rady Childrens Institute for Genomic Medicine (RCIGM) to develop a next-generation support network for families with gene-based diagnosed rare diseases.

Approximately 80 percent of rare diseases have identified genetic origins, many caused by defects in a single gene. Fifty percent of known rare diseases affect children and 30 percent of children with rare diseases die before the age of five years. Through Project Baby Bear, RCIGM diagnosed 35 rare conditions that occur in less than one in one million births. RCIGM demonstrated that access to rapid Whole Genome Sequencing (rWGS) not only shortens the time to diagnosis for newborn babies, but also reduces healthcare costs and downstream spending, primarily by empowering doctors to eliminate unnecessary procedures and discharge babies sooner.

RCIGM is recognized as a global leader in providing medical teams with life-changing genomic information to solve medical mysteries and improve outcomes for critically ill babies and children struggling to survive. They serve a growing network of more than 42 childrens hospitals nationwide. Its our joy and privilege to do work that offers hope and improves the lives of families and children with rare disease, said Stephen Kingsmore, M.D., DSc, president and CEO of RCIGM. When it comes to finding answers and support, we recognize that patient families face many challenges. Thats why we are delighted to team up with Global Genes to help connect the rare disease community with information on genomic medicine support services to break down barriers to diagnosis.

Through this novel partnership, Global Genes will work with RCIGM to connect patients and parents to needed services, support, education, and resources regarding genetic testing. Together, RCIGM and Global Genes aim to reduce the time to gene-based diagnoses and bring parents and patients the support they need, wherever they are in the country, said Christian Rubio, vice president, strategic advancement at Global Genes.

About Global Genes

Global Genes is a 501(c)(3) nonprofit organization on a mission to connect, empower, and inspire the rare disease community. We provide hope for more than 400 million people affected by rare disease around the globe. To date, weve educated millions of people in more than one hundred countries about rare disease, equipped patients and advocates with tools and resources, and provided hundreds of thousands of dollars in support for innovative patient impact programs. If you or someone you love has a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE or visit the resource hub.

About Rady Childrens for Genomic Medicine (RCIGM)

The Institute is leading the way in advancing disease-specific healthcare for infants and children through genomic and systems medicine research. Discoveries at the Institute are enabling rapid diagnosis and targeted treatment of critically ill newborns and pediatric patients at Rady Childrens Hospital-San Diego and a growing network of more than 40 childrens hospitals nationwide. The vision is to expand delivery of this life-saving technology to enable the practice of Rapid Precision Medicine at childrens hospitals across the nation and the world. RCIGM is a subsidiary of Rady Childrens Hospital and Health Center. Learn more at http://www.RadyGenomics.org. Follow us on Twitter and LinkedIn.

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NeuBase Therapeutics Announces Addition of Peter Nielsen, Ph.D., Inventor of Peptide Nucleic Acid Technology, to Scientific Advisory Board – BioSpace

PITTSBURGH, Oct. 13, 2020 (GLOBE NEWSWIRE) -- NeuBase Therapeutics, Inc. (NASDAQ: NBSE) (NeuBase or the Company), a biotechnology company accelerating the genetic revolution using a new class of synthetic medicines, announced the addition of Peter Nielsen, Ph.D. to its scientific advisory board. Dr. Nielsen, the primary inventor of peptide nucleic acid (PNA) technology, brings extensive experience in genetic medicine to NeuBase as the Company optimizes its PATrOL therapies and moves them towards the clinic.

We are honored to welcome Dr. Nielsen, a transformational leader in the field of genetics and genomic technologies, to the NeuBase scientific advisory board. His unique perspective gained over his distinctive career will undoubtedly provide valuable insight and complement our team of renowned experts, said Dietrich A. Stephan, Ph.D., chief executive officer of NeuBase. We believe that our new class of synthetic medicines, which relies on the elegant scaffold chemistry invented by Dr. Nielsen, has the potential to change the treatment landscape for many diseases, both common and rare. We look forward to leveraging his unparalleled knowledge as we continue to advance our PATrOL platform under the guidance of our outstanding group of scientific advisors.

Dr. Nielsen added, NeuBases PNA technology is among the first to be advanced through development for therapeutic applications, and I am thrilled to be part of the revolution the Company is leading. I look forward to working with the team and lending my guidance as NeuBase progresses its first-in-class medicines.

Dr. Peter Nielsen is a leading expert in gene targeting, RNA interference and chemical replication and translation and was one of the inventors of PNAs in 1991. He is currently a professor at the University of Copenhagen where his lab focuses on PNAs in regard to drug discovery, gene targeting, antisense principles, cellular and in vivo delivery and administration of biopharmaceuticals. He is the co-author of more than 400 scientific papers and reviews as well as over 20 patents and patent applications, and he serves on the advisory board of four scientific journals.In addition to his esteemed academic career, Dr. Nielsen is the co-founder of two biotech companies in Denmark and is a member of EMBO and the Danish Academy of Technical Sciences. He received his Ph.D. in 1980 from University of Copenhagen.

About NeuBase Therapeutics, Inc.NeuBase is accelerating the genetic revolution using a new class of synthetic medicines. NeuBases designer PATrOL therapies are centered around its proprietary drug scaffold to address genetic diseases at the source by combining the highly targeted approach of traditional genetic therapies with the broad organ distribution capabilities of small molecules. With an initial focus on silencing disease-causing mutations in debilitating neurological, neuromuscular and oncologic disorders, NeuBase is committed to redefining medicine for the millions of patients with both common and rare conditions. To learn more, visit http://www.neubasetherapeutics.com.

Use of Forward-Looking Statements

This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act. These forward-looking statements are distinguished by use of words such as "will," "would," "anticipate," "expect," "believe," "designed," "plan," or "intend," the negative of these terms, and similar references to future periods. These views involve risks and uncertainties that are difficult to predict and, accordingly, our actual results may differ materially from the results discussed in our forward-looking statements. Our forward-looking statements contained herein speak only as of the date of this press release. Factors or events that we cannot predict, including those risk factors contained in our filings with the U.S. Securities and Exchange Commission, may cause our actual results to differ from those expressed in forward-looking statements. The Company may not actually achieve the plans, carry out the intentions or meet the expectations or projections disclosed in the forward-looking statements, and you should not place undue reliance on these forward-looking statements. Because such statements deal with future events and are based on the Company's current expectations, they are subject to various risks and uncertainties, and actual results, performance or achievements of the Company could differ materially from those described in or implied by the statements in this press release, including: the Company's plans to develop and commercialize its product candidates; the timing of initiation of the Company's planned clinical trials; the timing of the availability of data from the Company's clinical trials; the timing of any planned investigational new drug application or new drug application; the Company's plans to research, develop and commercialize its current and future product candidates; the clinical utility, potential benefits and market acceptance of the Company's product candidates; the Company's commercialization, marketing and manufacturing capabilities and strategy; global health conditions, including the impact of COVID-19; the Company's ability to protect its intellectual property position; and the requirement for additional capital to continue to advance these product candidates, which may not be available on favorable terms or at all, as well as those risk factors contained in our filings with the U.S. Securities and Exchange Commission. Except as otherwise required by law, the Company disclaims any intention or obligation to update or revise any forward-looking statements, which speak only as of the date hereof, whether as a result of new information, future events or circumstances or otherwise.

NeuBase Investor Contact:Dan FerryManaging DirectorLifeSci Advisors, LLCDaniel@lifesciadvisors.comOP: (617) 430-7576

NeuBase Media Contact:Cait Williamson, Ph.D.LifeSci Communicationscait@lifescicomms.comOP: (646) 751-4366

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NeuBase Therapeutics Announces Addition of Peter Nielsen, Ph.D., Inventor of Peptide Nucleic Acid Technology, to Scientific Advisory Board - BioSpace

Passage Bio Announces Publication of Preclinical Data That Show Single Injection of Optimized AAV Vector into Cerebral Spinal Fluid – BioSpace

PHILADELPHIA, Oct. 13, 2020 (GLOBE NEWSWIRE) -- Passage Bio, Inc. (NASDAQ: PASG), a genetic medicines company focused on developing transformative therapies for rare, monogenic central nervous system disorders, today announced publication of data in a murine model of GM1 gangliosidosis (GM1) demonstrating that a single intracerebroventricular injection of an optimized adeno-associated virus (AAV) into the cerebral spinal fluid (CSF) resulted in significant expression of Beta-galactosidase (-gal) in the brain and peripheral tissues, and demonstrated dose-related reductions in neuronal lysosomal storage lesions, neurological impairment and improvement in survival. These data were published online ahead of print in the November issue of the peer-reviewed scientific journal Human Gene Therapy (HGT).

This study suggests that delivery of an AAV vector optimized to express b-gal directly into the CSF restored b-gal activity in the brain and, if further developed and tested in human clinical trials, may be effective in modifying and preventing the devastating effects of the genetic disease GM1, said James Wilson, M.D., Ph.D., director of the Gene Therapy Program at the University of Pennsylvania (Penn) and chief scientific advisor of Passage Bio. The AAV vector used in the study is the same as Passage Bios PBGM01 gene therapy, which is designed to deliver a functional human GLB1 gene into the brain and optimized to express -gal. These preclinical study data support the further development of PBGM01 as a potential therapy for patients suffering from GM1.

GM1 is a rare and often life-threatening monogenic lysosomal storage disease caused by mutations in the GLB1 gene, which encodes lysosomal acid -gal. Reduced -gal activity results in the accumulation of toxic levels of GM1 in neurons throughout the brain, causing rapidly progressing neurodegeneration. GM1 manifests as a continuum of disease and is most severe in the infantile form, which is characterized by onset in the first six months of life with hypotonia (reduced muscle tone), progressive CNS dysfunction, and rapid developmental regression. Life expectancy for infants with GM1 is two to four years, and infantile GM1 represents approximately 60 percent of the incidence of 0.5 to 1 in 100,000 live births. Currently, there are no approved disease-modifying therapies available.

Results of the PBGM01 preclinical study were reported in the paper titled, A single injection of an optimized AAV vector into cerebrospinal fluid corrects neurological disease in a murine model of GM1 gangliosidosis, by Christian Hinderer, M.D., Ph.D., and colleagues, including gene transfer pioneer Dr. Wilson, from the Gene therapy Program, Department of Medicine, University of Pennsylvania Perlman School of Medicine. The study in part was previously presented at the 22nd annual Meeting of the American Society for Cell and Gene Therapy (ASCGT) in 2019.

This research evaluated the impact of single intracerebroventricular administration of the human -gal containing AAV vector on -galactosidase enzyme activity in the murine brain and peripheral tissues, lysosomal storage lesions, neurological function (including neurological exams and gait analysis) and survival in mice lacking the -galactosidase gene. The mice received the single administration at age one month and were evaluated over 300 days. -gal activity was increased significantly in the cerebral spinal fluid and serum of the vector-treated mice compared to vehicle control-treated mice. Significant improvements in gait assessments as measured by stride length and hind paw print length and significant preservation of neurological function as measured by neurological exam scores were observed throughout the study period in the human -gal vector-treated mice. There were significant decreases in lysosomal storage lesions of vector-treated animals and by day 300 all animals that received the two highest doses were still alive, whereas none of the vehicle control-treated animals had survived.

Were excited about being able to soon advance PBGM01 into the clinic, and the potential promise it holds for patients with GM1, the majority of whom are infants and for whom there are no approved disease modifying treatments, said Bruce Goldsmith, Ph.D., president and chief executive officer of Passage Bio. Our plan is to administer PBGM01 through intra-cisterna magna delivery into the brain, which we believe may offer several benefits in terms of safety, efficiency and distribution compared to other approaches.

Passage Bio expects to initiate dosing of PBGM01 in a Phase 1/2 trial late in the fourth quarter of 2020 or early in the first quarter of 2021 and remains on track to report initial 30-day safety and biomarker data late in the first half of 2021.

This research was supported by a research, collaboration and license agreement with Passage Bio. HGT is the Official Journal of the European Society of Gene and Cell Therapy, British Society for Gene and Cell Therapy, French Society of Cell and Gene Therapy, German Society of Gene Therapy, and five other gene therapy societies. Click here to read the full-text article on the HGT website.

About PBGM01PBGM01 is an AAV-delivery gene therapy currently being developed for the treatment of infantile GM1, in which patients have mutations in the GLB1 gene causing little or no residual -gal enzyme activity and subsequent neurodegeneration. PBGM01 utilizes a next-generation AAVhu68 capsid administered through intra-cisterna magna (ICM) to deliver a functional GLB1 gene encoding -gal to the brain and peripheral tissues. By reducing the accumulation of GM1 gangliosides, PBGM01 has the potential to halt or prevent neuronal toxicity, thereby restoring developmental potential. In preclinical models, PBGM01 has demonstrated broad brain distribution and wide uptake of the -gal enzyme in both the central nervous system (CNS) and critical peripheral organs, suggesting potential treatment for both the CNS and peripheral manifestations of GM1. The Company has received Orphan Drug and Rare Pediatric Disease designation for PBGM01 for patients with GM1 and expects to initiate dosing of its Phase 1/2 trial late in the fourth quarter of 2020 or early in the first quarter of 2021 and remains on track to report initial 30-day safety and biomarker data late in the first half of 2021.

About Passage BioPassage Bio is a genetic medicines company focused on developing transformative therapies for rare, monogenic central nervous system disorders with limited or no approved treatment options. The company is based in Philadelphia, PA and has a research, collaboration and license agreement with the University of Pennsylvania and its Gene Therapy Program (GTP). The GTP conducts discovery and IND-enabling preclinical work and Passage Bio conducts all clinical development, regulatory strategy and commercialization activities under the agreement. The company has a development portfolio of six product candidates, with the option to license eleven more, with lead programs in GM1 gangliosidosis, frontotemporal dementia and Krabbe disease.

University of Pennsylvania (Penn)Financial DisclosureDr. Wilson is a Penn faculty member and also a scientific collaborator, consultant and co-founder of Passage Bio. As such, he holds an equity stake in the company, receives sponsored research funding from Passage Bio, and as an inventor of certain Penn intellectual property that is licensed to Passage Bio, he may receive additional financial benefits under the license in the future. He is an inventor of intellectual property covering the technology described in paper published in HGT that is licensed from Penn to Passage Bio, and he may receive financial benefits under this license in the future. Penn also holds equity and licensing interests in Passage Bio.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of, and made pursuant to the safe harbor provisions of, the Private Securities Litigation Reform Act of 1995, including, but not limited to: our expectations about timing and execution of anticipated milestones, including our planned IND submissions, initiation of clinical trials and the availability of clinical data from such trials; our expectations about our collaborators and partners ability to execute key initiatives; our expectations about manufacturing plans and strategies; our expectations about cash runway; and the ability of our lead product candidates to treat the underlying causes of their respective target monogenic CNS disorders. These forward-looking statements may be accompanied by such words as aim, anticipate, believe, could, estimate, expect, forecast, goal, intend, may, might, plan, potential, possible, will, would, and other words and terms of similar meaning. These statements involve risks and uncertainties that could cause actual results to differ materially from those reflected in such statements, including: our ability to develop and obtain regulatory approval for our product candidates; the timing and results of preclinical studies and clinical trials;; risks associated with clinical trials, including our ability to adequately manage clinical activities, unexpected concerns that may arise from additional data or analysis obtained during clinical trials, regulatory authorities may require additional information or further studies, or may fail to approve or may delay approval of our drug candidates; the occurrence of adverse safety events; the risk that positive results in a preclinical study or clinical trial may not be replicated in subsequent trials or success in early stage clinical trials may not be predictive of results in later stage clinical trials; failure to protect and enforce our intellectual property, and other proprietary rights; our dependence on collaborators and other third parties for the development and manufacture of product candidates and other aspects of our business, which are outside of our full control; risks associated with current and potential delays, work stoppages, or supply chain disruptions caused by the coronavirus pandemic; and the other risks and uncertainties that are described in the Risk Factors section in documents the company files from time to time with theSecurities and Exchange Commission(SEC), and other reports as filed with theSEC. Passage Bio undertakes no obligation to publicly update any forward-looking statement, whether written or oral, that may be made from time to time, whether as a result of new information, future developments or otherwise.

For further information, please contact:

Investors:Sarah McCabe and Zofia MitaStern Investor Relations, Inc.212-362-1200sarah.mccabe@sternir.comzofia.mita@sternir.com

Media:Gwen FisherPassage Bio215.407.1548gfisher@passagebio.com

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Passage Bio Announces Publication of Preclinical Data That Show Single Injection of Optimized AAV Vector into Cerebral Spinal Fluid - BioSpace