From a cancer vaccine to gene insertion for those with Parkinson's, local researchers are breaking through.

Research is big business at Ohio State University, with medical funding currently exceeding a quarter of a billion dollars, according to Peter Mohler, vice dean for research at OSUs College of Medicine. Ohio State gets grants from the National Institutes of Health and other sources such as other government agencies, nonprofit foundations and industry contracts.

Funding for OSUs College of Medicine, alone, now includes some $268.5 million. What follows are some of the latest breakthroughs.

An Anticancer Vaccine

A new anticancer vaccine, called B-Vaxx, is still in the early stages of being tested but initial studies are promising. The first-ever human trial at Ohio State led by researcher Pravin Kaumaya, a professor in the college of medicines department of obstetrics and gynecology, showed that patients with metastatic or recurrent solid tumors that overexpress the HER-2 protein had a stronger immune response than they did to current treatments.

This means that B-Vaxx may be more effective in killing tumor cells in many types of aggressive breast, gastroesophageal, endometrial, ovarian, colorectal and lung cancers. Although more research and clinical trials are needed, the bottom line on this first report is that scientists have concluded that the vaccine induced patient antibodies that showed potent antitumor activity.

Hope for Parkinsons

Dr. Krystof Bankiewicz, a researcher specializing in neurodegenerative disorders, and Dr. Russell Lonser, chair of OSUs department of neurological surgery, have been working with transformational gene therapy to develop cures for Parkinsons and other neurodegenerative diseases.

A one-step solution for Parkinsons could be the insertion of a non-pathogenic virus thats been modified to do only one thing: deliver the missing gene to a specific region of the brain.

The missing gene, if implemented, stops the progression of Parkinsons. Administering it, however, is a complex procedure. An MRI scanner is used to directly implant it in the brain.

Six clinical trials regarding the gene therapy and its effects on neurodegenerative diseasesincluding Parkinsons, Alzheimers, Huntingtons and moreare underway at Ohio State. In fact, the clinical trials for pediatric patients have been so successful that registration of the therapy has been fast-tracked with the U.S. Food and Drug Administration. There is hope that the drug will be approved this year for use in children.

Brain Stimulation

A small 2018 study at Ohio State implanted electrodes into the frontal cortex of Alzheimers patients and programmed a pacemaker to deliver deep brain stimulation. DBS has already proven to be helpful for patients with Parkinsons, epilepsy and obsessive-compulsive disorder. And, it is currently being studied for addiction, chronic pain, multiple sclerosis, traumatic brain injury and more.

Two of three people showed statistical improvement, says Dr. Douglas Scharre, professor of neurology and clinical psychology at OSUs Center for Cognitive and Memory Disorders and its Center for Neuromodulation. One patient was able to plan an outing and handle money, make plans for an event and cook a simple meal. These may seem like minor improvements, but if the patient cant do it, the caregiver has to.

Atrial Fib: The Watchman

Among the 3,000 clinical trials at various stages at Ohio State in recent years has been apilot studylead by Dr. Ahmet Kilic, former OSU associate professor of cardiac surgery, on the efficacy of the Watchman, a tiny parachute-like device which is implanted into the heart to regulate the heartbeat of those who suffer from atrial fibrillation. (Kilic is now director of heart transplantation and mechanical circulatory support at Johns Hopkins Medicine.)

Along with reducing stroke risk, the Watchman allows for remote monitoring of heart function. Watchman patients also forgo the risk of excessive bleeding caused by long-term use of warfarin, such as Coumadin and other blood thinners. The implantnow in more than 100,000 peoplecan eliminate regular blood tests and food-and-drink restrictions that come with warfarin.

Expecting a Daughter?

Researchers at the Wexner Medical Center have found thatthat immune cell samples of women carrying girls produced more proteins called pro-inflammatory cytokines than those carrying boys, resulting in exacerbation of conditions such as asthma, and contributing to fatigue and achiness.

Too many of these cytokinescan really be unhelpful for our bodies functioning, explains Amanda Mitchell, lead author of the study while she was a postdoctoral researcher in the universitys Institute for Behavioral Medicine Research. Women carrying girls exhibited greater inflammatory responses when faced with some sort of immune challenge compared to women carrying boys.

Exercising and doing relaxing activities, such as meditation, are recommended. Also, eating healthy foods, including leafy greens, will better support healthy immune responses. Mitchell is now an assistant professor at the University of Louisvilles department of counseling and human development.

More Sleep EqualsHappier Marriages

According to the Centers for Disease Control and Prevention, 35 percent of Americans get less than seven hours of sleep per night, resulting in increased risk of stress-related inflammation and ensuing chronic illnesses such as cardiovascular disease, diabetes, arthritis and others.

In arecent studyat Ohio States Institute for Behavioral Medicine, married couples were asked to supply blood samples and information regarding hours they slept the previous two nights. They were then asked to resolve a conflict, with blood samples taken after the discussion. Although people who had slept less initially had no more inflammation than usual, there was a greater inflammatory response after the conflict. Furthermore, if both partners got less than seven hours of sleep the previous two nights, they were more likely to become hostile.

Couples using unhealthy resolution tactics had an even greater inflammatory response. In a marriage, sleep patterns often track together, explains Janice Kiecolt-Glaser, the senior author of the study and director of OSUs Institute for Behavioral Medicine Research. If one person is restless, or has chronic problems, that can impact the others sleep. If these problems persist over time, you can get this nasty reverberation within the couple.

Less Stress, Better Health

Dining on a Greek salad may be great, but if youre stressed, it may be no better for you than fish and chips, according to an Ohio State study published inMolecular Psychiatry. In the study, 58 women were given two different types of meals, one high in saturated fat, which has been linked to cardiovascular disease, and another with more heart-healthy, plant-based oil. The meals were similar in terms of calories and grams of fat. While inflammatory responses were predictably lower if the women were not stressed after the healthier meal, if a woman was stressed, it looked like she was eating the saturated fat meal in terms of her [inflammatory] responses, study author Kiecolt-Glaser told National Public Radio.

Even though the stressors were for everyday issues, such as dealing with a sick parent, the stress seemed to boost inflammation, increasing chances for disease and slowing the healing process. Still, more research needs to be done and there are plenty of ways to combat stress, includingdeep-breathing.

Immune Cells and Sex

An Ohio State study done on rats and reported in theJournal of Neurosciencefound that immune mast cells,usually ignored by neuroscientists, appear to play an important role in determining the gender of an animals sexual behavior.

When researchers, led by Kathryn Lenz, assistant professor of behavioral neuroscience, silenced the mast cells in male fetal rats, they found that the adult males were far less interested in having sex with females. In fact, they acted almost like females, according the study.

Newborn female rats whose mast cells were activated with a stimulating chemical did the opposite, showing more traditionally males behaviors. Lenz theorizes that if human development mirrors what was seen in this study, even relatively minor influencessuch as an allergic reaction, injury or inflammation during pregnancycould possibly steer sexual behavior and development.

On the Move: Its All Good

According to Bernadette Melnyk, chief wellness officer and dean of OSUs College of Nursing, researchers at the American College of Sports Medicine have confirmed that physical activity completed in any duration is associated with health benefits and count towards your recommended 150 minutes of weekly activity.

Traditionally, physical activity recommendations have focused on accumulating moderate-to-vigorous physical activity either in a continuous manner, such as going for a 30-minute run, or in short bouts performed throughout the day, according to theACSM. However, in 2018, thanks to the advent of digital and other activity trackers, the ACSM also recognized that most daily activity is sporadic and is typically performed in bouts that are less than 10 minutes in duration. Any such activity is now associated with favorable health-related outcomes.

Take time each day to get moving, even if only for five minutes, adds Melnyk.

Reprinted fromColumbus Monthly Health 2020.

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Medical Research and Innovation at Ohio State - Columbus Monthly

Join journalists from around the world covering the American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting March 17-21, 2020 in San Antonio, TX

BETHESDA, Md., Feb. 24, 2020 /PRNewswire/ -- The American College of Medical Genetics and Genomics (ACMG) heads to a new destination in sunny San Antonio, Texas in 2020. Named one of the fastest growing meetings in the USA by Trade Show Executive Magazine, the ACMG Annual Clinical Genetics Meeting continues to provide groundbreaking research and news about the latest advances in genetics, genomics and personalized medicine. To be held March 17-21, the 2020 ACMG Annual Meeting will feature more than 40 scientific sessions as well as three Short Courses, a variety of workshops, TED-Style talks and satellite symposia, and more than 750 poster presentations on emerging areas of genetic and genomic medicine.

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics. (PRNewsfoto/American College of Medical G...)

Interview those at the forefront in medical genetics and genomics, connect in person with new sources and get story ideas on the clinical practice of genetics and genomics in healthcare today and for the future. Learn how genetics and genomics research is being integrated and applied into medical practice.

Topics include gene editing, cancer genetics, molecular genomics, exome sequencing, pre- and perinatal genetics, biochemical/metabolic genetics, genetic counseling, health services and implementation, legal and ethical issues, therapeutics and more.

Credentialed media representatives on assignment are invited to attend and cover the ACMG Annual Meeting on a complimentary basis. Contact Reymar Santos at rsantos@acmg.net for the Press Registration Invitation Code, which will be needed to register atwww.acmgmeeting.net.

Abstracts of presentations are available online at http://www.acmgmeeting.net. A few 2020 ACMG Annual Meeting highlights include:

Program Highlights:

Cutting Edge Scientific Concurrent Sessions:

Three half-day Genetics Short Courses on Monday, March 16 and Tuesday, March 17:

Photo/TV Opportunity: The ACMG Foundation for Genetic and Genomic Medicine will present bicycles to local children with rare genetic diseases at the Annual ACMG Foundation Day of Caring on Friday, March 20 from 10:30 AM 11:00 AM at the Henry B. Gonzlez Convention Center.

Social Media for the 2020 ACMG Annual Meeting: As the ACMG Annual Meeting approaches, journalists can stay up to date on new sessions and information by following the ACMG social media pages on Facebook, Twitterand Instagram and by usingthe hashtag #ACMGMtg20 for meeting-related tweets and posts.

Note be sure to book your hotel reservations early.

The ACMG Annual Meeting website has extensive information atwww.acmgmeeting.net.

About the American College of Medical Genetics and Genomics (ACMG) and the ACMG Foundation for Genetic and Genomic Medicine

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,400 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Raye Alford, PhDralford@acmg.net

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Last Chance for Press Registration! Countdown to the 2020 ACMG Annual Clinical Genetics Meeting - Yahoo Finance

Former CEO of Freeline Therapeutics, Ltd. has outstanding international drug development, commercialization expertise, with focus on rare disease, gene therapy

Renovacor, Inc, a preclinical-stage biopharmaceutical company focused on developing transformative gene therapy-based treatments for cardiovascular disease, today announced the addition of Dr. Anne Prener to both the companys board of directors and scientific advisory board.

This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200224005120/en/

Anne Prener, M.D., Ph.D. Appointed to Renovacor Board of Directors and Scientific Advisory Board (Photo: Business Wire)

Dr. Prener has a proven track record of building and leading high-performing global teams for both preclinical and clinical stage biotech companies. Her 25+ years of experience across several therapeutic areas has focused on rare diseases and gene therapy. Most recently, Dr. Prener served as CEO of Freeline Therapeutics, Ltd., where she scaled the company from the preclinical stage to a fully-integrated biotechnology organization, which included a broad, internally developed pipeline, two programs in clinical development and a commercial-scale, high-quality CMC and manufacturing platform. Prior to that, Dr. Prener was CEO for Gyroscope, a gene therapy company focused on addressing important retinal diseases with novel approaches. She helped build the company from start, including hiring the clinical, regulatory and scientific teams, developed medical and commercial strategy and served as a leading board director of the company. Overall, Dr. Prener has been instrumental in bringing six biologics through development, approval and launch preparations, of which one new treatment for hemophilia took only 4.5 years from first human dose to approval.

"We are delighted to have Anne join both the board of directors and scientific advisory board at a time when our industry has a pressing need for more women in high-impact leadership and mentorship roles," said Renovacor CEO Magdalene Cook. "Anne is not only a brilliant scientist in her own right, but her experience as CEO at two prior gene therapy companies will be invaluable and highly relevant to the opportunities and challenges we will face as we build Renovacor. I know Anne will be an engaged and effective advisor and will help us develop foundational long-term strategies."

"I look forward to working with such distinguished colleagues in a uniquely positioned company in the rare disease gene therapy space. The cardiovascular clinical indication is a virtually untouched one, with many exciting possibilities," said Anne Prener, M.D., Ph.D. "My role on the board of directors and scientific advisory board will be hands-on. I will engage with Dr. Cook and her team bringing my experience to bear on pivotal near term initiatives, key to Renovacors success, from manufacturing to preclinical and clinical planning, building a pipeline, and progressing the long term strategic goals of the company."

Dr. Prener joins Renovacors world-class scientific advisory board, which also includes Arthur M. Feldman, MD, PhD, Laura H. Carnell Professor of Medicine (Cardiology) at the Lewis Katz School of Medicine at Temple University, and Founder, Renovacor; Michael Bristow, MD, PhD, Professor of Medicine-Cardiology, University of Colorado, School of Medicine, and Co-founder, President and CEO, ARCABiopharma; Douglas Mann, MD, Lewin Professor of Medicine, Director of Cardiovascular Division, Washington University School of Medicine; Dennis McNamara, MD, Professor of Medicine and Director of the Heart Failure Center, University of Pittsburgh Medical Center; and Joseph Glorioso III, PhD, Professor in the Department of Microbiology and Molecular Genetics at the University of Pittsburgh School of Medicine.

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A Commitment to Improving Treatment of Genetically Derived Cardiovascular DiseasesRenovacors lead program is a recombinant adeno-associated virus (AAV)-based gene therapy for patients suffering from dilated cardiomyopathy (DCM) due to mutations in the BAG3 gene, based on discoveries made by Renovacor Founder, Dr. Arthur M. Feldman. Dilated cardiomyopathy is a condition affecting over 3 million patients in the US and growing steadily. Many patients develop DCM due to ischemic heart disease. Recently subpopulations have been identified that develop DCM due to mutations in specific genes that have been shown to result in the development of DCM. One of these specific genes is the Bcl2-associated athanogene 3 (BAG3) gene. The prevalence of disease causing BAG3 haploinsufficiency is estimated at approximately 35,000 individuals in the United States, representing an orphan disease by FDA guidelines. Currently DCM patients with a BAG3 mutation are treated with standard of care for heart failure. Despite improvements in pharmacotherapy and care, the five-year survival of a patient with DCM is only 50%. Development of a BAG3 gene replacement therapy for patients with DCM that carry BAG3 mutations could potentially prevent progression of disease in this otherwise healthy population of young adults.

About RenovacorRenovacor is a preclinical stage biotechnology company whose mission is to develop improved therapies for genetically derived cardiovascular diseases. The company is currently developing a gene therapy for a rare, familial form of dilated cardiomyopathy. Renovacors lead gene therapy product aims to restore cardiac function in patients with symptomatic heart failure due to BAG3 gene mutation. For further information about Renovacor, please visit http://www.renovacorinc.com.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200224005120/en/

Contacts

Renovacor: Magdalene Cook, MDCEO, Renovacor203-524-0788mcook@renovacorinc.com

For Media Requests: Samantha Choinski603-489-5964LaVoieHealth Scienceschoinski@lavoiehealthscience.com

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Anne Prener, M.D., Ph.D. Appointed to Renovacor Board of Directors and Scientific Advisory Board - Yahoo Finance

The excitement about cell and gene therapies is almost tangible within the biotech and pharma industry. Over 950 companies are actively developing advanced therapies, which are expected to make exceptional improvements to peoples lives in the next decade. Although hopes are high, the industry still faces a number of challenges in cell and gene therapy manufacturing, mainly around being able to deliver these often difficult to make, complex treatments at the scale needed to meet patient demand.

The unprecedented growth of the industry, alongside the need to develop scalable manufacturing strategies, has led to a number of challenges that need to be addressed urgently. Previously, patient numbers were so small that processes were highly manual and required numerous skilled operators. However, the recent success of early gene therapy trials means upscaling now needs to be considered right from the start.

In the early days the aim was just to get to the clinic, said Lindsey Clarke, Head of Cell and Gene Therapy EMEA at Bio-Techne. Scale didnt come into it so much, but now the conversations we are having focus much more on making these complex therapies at a scale needed for a commercial medicine. There are increased efforts on finding solutions that dont just work for trials with 10 patients, but will still work at 1000 times that scale.

Life science tools and technology provider, Bio-Techne, has made it its mission to further support the cell and gene therapy industry by channeling its expertise into developing technologies that can help to scale manufacturing processes. The companys commitment is highlighted by its recent investment into a new good manufacturing practice (GMP) manufacturing facility in St Paul, Minnesota, US, that will focus on producing raw materials for use in cell and gene therapy applications.

We have realized that if all our customers are to be successful with their therapies then there will be a huge demand for raw materials, Clarke explained. So weve started building that capability, ahead of time. But its not just about supply, we are also innovating, from simple things like looking closely at the format our products come in and making them more compatible with large-scale manufacturing to whole new product ranges.

Bio-Technes investment in the new GMP manufacturing facility is a solution to meet the growing demand for raw materials needed for cell and gene therapy manufacturing. But its just one piece of a large puzzle: cell and gene therapy developers also need to consider the complex logistics required to deliver their therapies to the clinic, particularly when its an autologous therapy.

The process from the patient to the clinician, to the apheresis collection, to the manufacturing site, then the complex manufacturing process and then delivery back to the patient is highly complex.

Another key challenge closely related to upscaling is the great risk of human error in manual processes. Many of the cell and gene manufacturing processes currently in place have been developed with small patient numbers in mind and involve manual steps.

Humans are an excellent source of variability and risk, explained Clarke. When youre manufacturing in a GMP environment, you need highly-skilled, trained operators and there is a shortage of them out there. Automation is going to be key to address this issue. Not only does it reduce the manpower that is required, but it can also streamline the processes and make them less risky, more scalable, and reproducible as well, Clarke added.

With cell and gene therapy products, various analytical methods are used to assess critical quality attributes during development and manufacturing. These reflect the identity, potency, purity, safety, and stability of the product. However, such methods are frequently complex, non-standardized, time-consuming, and performed manually by trained operators.

Organizations such as Cell and Gene Therapy Catapult have called for the development of new analytical solutions for quality testing of advanced therapies throughout the manufacturing process. More automated analytical technologies have the potential to increase facility throughput and make quality control (QC) faster, less error-prone, more reproducible, and more GMP compliant.

Although Bio-Techne has a long-standing history of developing quality proteins, antibodies, small molecules, and immunoassays, it has expanded into automated protein analytical technologies in recent years.

For viral and non-viral vectors, Bio-Technes ProteinSimple branded platforms are rapidly being adopted by cell and gene therapy developers for assessment of vector identity, purity, and stability. Compared to traditional methods like Western blot, SDS-PAGE, and ELISA, ProteinSimples technology platform is based on capillary electrophoresis and microfluidics and provides a fully automated and accurate quantitative analysis of vectors.

We are also seeing Micro-Flow Imaging (MFI), a more common image-based analytical platform in biologics, used to characterize subvisible particles for quality control of cell and gene therapy products, explained Kamar Johnson, Commercial Development Manager in Cell and Gene Therapy at Bio-Techne. These robust automated platforms offer ease of use, rapid time to result, and software that meets GMP requirements.

Collaboration lies at the heart of successful innovation. It is especially important at the interface between process development and manufacturing, said Johnson.

Not everyone is an expert in everything, we all have our particular niches of expertise, added Clarke. We believe that we need to collaborate to get the innovation that will help change the way we manufacture cell and gene therapies. Collaboration is the key to solving the challenges of the cell and gene therapy industry.

On that note, Bio-Techne recently partnered with Fresenius Kabi and Wilson Wolf to form a new joint venture that provides manufacturing technologies and processes for the development and commercialization of new cell and gene therapies.

The collaboration combines Bio-Technes expertise of proteins, reagents, media, and gene editing technologies with Fresenius Kabis Lovo cell processing system and the bioreactor expertise from Wilson Wolf with its G-Rex technology that is designed as a scalable platform for personalized cell therapies.

As processes develop and technologies evolve, the cell and gene therapy space will be confronted with new challenges. At Bio-Techne, the team is keeping an eye out for interesting trends that might affect the industry.

I see the induced pluripotent stem cell (iPSC) therapy field continuing to grow with more allogeneic cell therapies being developed, says Johnson. Allogeneic manufacturing is potentially less complicated than autologous manufacturing due to the ability to provide off-the-shelf products when patients need them.

Although the challenges in cell and gene therapy manufacturing remain a problem, companies like Bio-Techne are establishing quicker, simpler, and more automated options within quality control, manufacturing, and process development.

Wherever we go, we see newer technologies supporting cell and gene therapy manufacturing, says Clarke. Within our industry, changes come so rapidly and the treatments have shown so much promise that there is a lot of focus on cell and gene therapies. This puts a lot of pressure on us as an industry to provide these treatments. I believe that collaboration is the key to tackling this problem.

To learn more about the challenges in cell and gene therapy manufacturing and how to solve them, visit Bio-Technes website or get in touch with the experts here!

Images via Shutterstock.com

Author: Larissa Warneck

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Tackling the Challenges in Cell and Gene Therapy... - Labiotech.eu

It's a startling number. Every 65 seconds in the U.S., someone develops Alzheimer's disease.

According to new research, there's a biological reason why women are more likely to get the disease.

Harry and Bettie Dunn love to reminisce about their past adventures during their 70 years of marriage.

"I know as you grow older you begin to lose some memory, but I noticed she was losing it more than I was," Harry said.

Harry believes it progressed more rapidly after a bad fall that broke Bettie's hip.

"She really doesn't know people that we've been friends with, sometimes she doesn't know her own children," he said.

"Two-thirds of Alzheimer's patients here in the U.S. are women," said Dr. Sepi Shokouhi, assistant professor of psychiatric and behavioral sciences at Vanderbilt University Medical Center.

Researchers examined 400 brain scans of elderly patients to figure out why the risk for Alzheimer's is higher for women than it is for men. They believe it may have something to do with an abnormal protein in the brain, named tau, which is linked to cognitive impairment.

"These abnormal proteins can spread like infection in the brain," Shokouhi said.

In the study, they found the tau accumulation was more widespread in women's brains than men's, easily moving from one part of the brain to another.

Previous theories on why more women got Alzheimer's disease than men pointed to the fact that women had a longer life expectancy. However, this research also points to a biological reason.

"I can predict that sex will be more strongly integrated in future precision medicine in Alzheimer's disease," Shokouhi said.

The new findings will help to identify therapies that would work best for women.

A study out of University of California at Los Angeles also points to social sex differences when it comes to Alzheimer's disease. They found the rate of memory decline was faster among married women who did not work in the labor force compared to married mothers who did.

Other researchers are studying possible causes like estrogen and one copy of a certain gene.

RESEARCH SUMMARYALZHEIMER'S ATTACKS MORE WOMEN THAN MEN REPORT #2717

BACKGROUND: Nearly 500,000 new cases of Alzheimer's disease will be diagnosed this year in the United States, and every 3 seconds, someone in the world develops dementia. Alzheimer's is the sixth-leading cause of death across all ages in the United States with a 5% increase in number of deaths in the from 2015 to 2016. For those 65 and older, it is the fifth-leading cause of death. Alzheimer's is an irreversible degeneration of the brain that causes disruptions in memory, cognition, personality, and other functions that eventually lead to death from complete brain failure. Caring for a person with Alzheimer's or another dementia is often extremely difficult, and many family and other unpaid caregivers experience high levels of emotional stress and depression as a result. (Source: https://www.brightfocus.org/alzheimers/article/alzheimers-disease-facts-figures)

ALZHEIMER AND GENDER: At the age of 65, women have a 1 in 5 chance of developing Alzheimer's, compared to a 1 in 11 chance for men. And, women in their 60's are twice as likely to develop Alzheimer's than to develop breast cancer. The Alzheimer's Association brought 15 of the world's leading scientists together to look further into why Alzheimer's is more likely in women, stating that "researchers are now questioning whether the risk of Alzheimer's could actually be higher for women at any given age due to biological or genetic variations or differences in life experiences." Genetic studies have offered a surprising account for the difference. Researchers from Stanford University studied over 8,000 people looking for a form of the gene ApoE-4, which increases the risk of Alzheimer's. They found that women who carry one copy of that gene variant were twice as likely to develop the disease as women without the gene. It is not clear why the gene poses such a drastic increase in risk but may be how the gene interacts with estrogen. (Source: https://www.alzheimers.net/8-12-15-why-is-alzheimers-more-likely-in-women/)

HOPEFUL BREAKTHROUGH: A study of more than 11,000 patients found that technology can detect biological evidence of brain changes clearly linked to Alzheimer's. The study involved people enrolled by nearly 1,000 dementia specialists across the country, and all had been diagnosed with either mildly impaired thinking skills or dementia in the last 2 years. "As in any other field of medicine, a clinical history and a physical exam is very important but being able to directly visualize the biology of the organ involved in the disease process is really essential to make an accurate diagnose," says lead study author Gil Rabinovici, MD, a professor at the University of California, San Francisco's Memory and Aging Center. This study used amyloid positron emission tomography, or PET scans, to detect amyloid plaques in the brain, which all people with Alzheimer's have. Before study participants were scanned, Alzheimer's disease was the leading cause suspected for cognitive impairment in 76.9% of patients, while the PET scans read as positive only for Alzheimer's in 55.3% of patients with mildly impaired thinking skills, and 70.1% of those with dementia. "Our hope is when we complete the second phase of the study, we will be able to show the scan not only changes management but improves outcomes, and that will lead Medicare to reconsider covering scans at least in some situations," Rabinovici says. (Source: https://www.webmd.com/alzheimers/news/20190501/alzheimers-diagnosis-breakthrough-hopeful-expensive)

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Alzheimer's attacks more women than men - WNDU-TV

Waldron has already lived considerably longer she turns 19 on March 1. She credits lonafarnib, an experimental medication shes taken since 2007 in clinical trials at Boston Childrens Hospital. A California drug firm plans to complete its application for approval by March 31, with the hope of a favorable ruling from the Food and Drug Administration by years end. It would be the first approved drug for the ultra-rare disease.

Its been proven that it helps in extending life, Waldron, a Deerfield native, said recently over hot chocolate at Caffe Nero near Emerson. Im almost 19. The life span is technically 14. A winsome smile brightened her face. Looks like its doing a good job.

Since 2007, Childrens Hospital has run four clinical trial of lonafarnib. Waldron has participated in all four, and researchers say the results are encouraging.

In perhaps the most compelling finding, a study published by the Journal of the American Medical Association in 2018 reported that children with progeria who took lonafarnib capsules twice a day had a dramatically lower mortality rate than those who didnt.

After slightly more than two years, one in 27 children who took lonafarnib, or 3.7 percent, had died compared with nine in 27 who didnt get it, or 33 percent, according to the article by a team of researchers from the Progeria Research Foundation, Brown University, and Childrens Hospital. Lonafarnib appeared to slow the progression of cardiovascular disease, although it had little or no effect on other symptoms, including stiff joints, stunted growth, wrinkled skin, and loss of body fat and hair.

The data looks fantastic, said Dr. Leslie Gordon, lead author of the JAMA study and medical director and cofounder of the Progeria Research Foundation, the Peabody-based nonprofit that funded the trials. Youve got a fatal childhood disease with no treatment, and youve shown a survival benefit.

For Gordon, a professor of pediatric medicine at Browns medical school who practices at Boston Childrens Hospital and Hasbro Childrens Hospital in Providence, the quest to treat progeria is profoundly personal.

Her son, Sam Berns, a Foxborough High School junior, died of progeria in 2014 at age 17. Like Waldron, he began taking lonafarnib in 2007 in the clinical trials. An avid sports fan who played the snare drum in the Foxborough High School marching band, he was the subject of the 2013 HBO documentary Life According to Sam.

Gordon had never heard of progeria when Sam, her only child, was diagnosed with it at 22 months. She has since become an authority. In 2003, she was on the research team led by Dr. Francis S. Collins, director of the National Institutes of Health, that discovered the defective gene that causes the disease. She cofounded the progeria foundation with her husband and sister.

The genetic mutation that causes progeria results in an overabundance of the protein progerin. A buildup of progerin occurs within a cell in normal aging, but the rate of accumulation is dramatically accelerated in children with the disease. Progeria has no effect on a childs intellect, as anyone who meets Waldron who took an Advanced Placement class in European history in high school and rhapsodizes about Michelangelo can tell in an instant.

Lonafarnib was originally developed by the pharmaceutical giant Merck as a potential treatment for cancer. But researchers found that it can reverse an abnormality in cells of laboratory mice with progeria. Merck has licensed it to Eiger BioPharmaceuticals, a small drug maker in Palo Alto, Calif. David Cory, chief executive of Eiger, says the company has hired a chief commercial officer and a vice president of medical affair in anticipation of FDA approval.

Researchers are working on other potential treatments, including one that targets the genetic root of the disease. David Liu, a chemistry professor affiliated with the Broad Institute, Harvard University, and the Howard Hughes Medical Institute, recently announced that he and a team of scientists had used a new form of genome editing to correct the DNA mutation that caused the disorder in mice, extending their lives.

Waldron, who serves as an ambassador for the progeria foundation, said she was diagnosed with the disease when she was about 2. Her mother, a housekeeper at an assisted living facility, and her father, a solar energy contractor, were worried because she wasnt growing or gaining weight, and her hair was falling out.

Waldron realized she had progeria as an adolescent when she went on the foundations website and saw pictures of kids who looked like her, she said.

Obviously, I knew that I was different before that, she said. But it wasnt an awareness I-have-progeria thing until at a certain point.

The disease has hardly stopped her. She ran for the cross-country and track teams at the public Frontier Regional High School in Deerfield. She played violin in the middle school orchestra and cello in the high school orchestra.

She has met about a dozen other children with progeria from around the country at family weekends at the nonprofit Hole in the Wall Gang Camp in Connecticut for seriously ill children and their families.

When she started considering colleges, Waldron said, she had no interest in going to school in Boston. But she fell in love with the city on a visit to Emerson.

You can walk down the street or hop on a train and go anywhere, she said, citing the North End as one of her favorites places.

I have great friends," she added. "I always have.

Emerson has made several accommodations for her. For example, the college provides a stool for her to rest her feet on when she sits at a desk in her four classes. The handle on her wardrobe in her dorm room was lowered so she could reach it more easily.

Waldron says she generally feels fine despite problems with her joints. She has dislocated her right shoulder four times doing ordinary tasks, such as reaching for a light switch.

None of this has dimmed her spirit for adventure.

Meghan has a very strong personality. Shes driven, her father, Bill Waldron, said in a video posted last year on the progeria foundations Facebook page. I dont think she pays attention to the fact that she has progeria.

Indeed, after graduating from high school in June, she traveled in Europe alone for a month. The initial attraction was seeing Anne-Marie, a singer and occasional Ed Sheeran collaborator, perform in London. But Waldron decided she also wanted to experience Renaissance art. She visited Milan, Florence, Rome, Paris, and Dublin, staying in youth hostels along the way.

Waldrons parents were nervous, she said. She was, too, but only briefly.

There was a point of about five minutes when my parents said goodbye and I was getting on the plane where I started freaking out, she said, laughing. But then I was like, Oh, well. And then I was fine.

Jonathan Saltzman can be reached at jonathan.saltzman@globe.com

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Emerson College student with progeria heartened that first drug treatment could be approved soon - The Boston Globe

For Immediate Release: February 21, 2020

The U.S. Food and Drug Administration today authorized marketing of the first test to detect a genetic condition known as Fragile X Syndrome (FXS), the most common known cause of inherited developmental delay and intellectual disability. The test is intended as an aid in diagnosing FXS and is to be used along with the evaluation of a patients family history and clinical signs and symptoms of FXS. Additionally, this test is intended for use in adults who may be carriers of genetic alterations in the gene associated with FXS, called the FMR1 gene.

This novel diagnostic provides doctors and their patients the first FDA authorized genetic test to aid in diagnosing Fragile X Syndrome, as well as helping parents know their risk of having a child with Fragile X Syndrome, said Wendy Rubinstein, M.D., Ph.D., director of personalized medicine in the Office of In Vitro Diagnostics and Radiological Health at the FDAs Center for Devices and Radiological Health. Early diagnosis is key to helping children affected with Fragile X Syndrome through early intervention.

According to the Centers for Disease Control and Prevention, approximately 1 in 4,000 males and 1 in 8,000 females in the U.S. have FXS, which is a genetic disorder caused by changes in the FMR1 gene located on the X chromosome. A segment of the DNA in the gene, known as a CGG trinucleotide repeat, is repeated in excess on the X chromosome in individuals with this disorder. While some repetition of the CGG repeat is normal, a high number of repeats may indicate potential health risks. The AmplideX Fragile X Dx and Carrier Screen Kit uses blood specimens from patients to measure the number of repeats of the CGG segment in the FMR1 gene. The test can determine whether a patient has a number of CGG repeats that is considered either normal, intermediate, premutation or full mutation.

Individuals with a full mutation typically have FXS, which is associated with developmental delays, learning disabilities, social and behavioral issues, intellectual disabilities and autism spectrum disorder. Women with a premutation have an increased risk of having a child with FXS as compared to women without a premutation. The number of women who have the Fragile X premutation is believed to be approximately 1 in 150 women. Men with a premutation will pass the premutation to their daughters only. Individuals with normal or intermediate levels of repeated CGG segments are currently thought to be asymptomatic for FXS or other fragile X-associated disorders.

In addition to aiding in the diagnosis of FXS and for carrier testing, this test can be used as an aid in the diagnosis of fragile X-associated disorders, including fragile X-associated tremor/ataxia syndrome, which is a movement and cognitive disorder that typically occurs in adults over age 50, and fragile X-associated primary ovarian insufficiency, a condition that is characterized by reduced function of the ovaries. The AmplideX Fragile X Dx and Carrier Screen Kit is not intended for use in fetal diagnostic testing, the screening of eggs obtained for in-vitro fertilization prior to implantation, or standalone diagnoses of FXS.

The FDA reviewed data for this test through the de novo classification process, a regulatory pathway for low- to moderate-risk devices of a new type. During this process, the FDA evaluated data from specimens collected at three clinical sites to assess the accuracy of the test. The data demonstrated that the diagnostic accuracy of the test is greater than 95%.

Along with this authorization, the FDA is establishing criteria, called special controls, that test developers must meet for tests of this type, including requirements relating to labeling and performance testing. These special controls, when met along with general controls, provide a reasonable assurance of safety and effectiveness for tests of this type. This action also creates a new regulatory classification, which means that subsequent devices of the same type with the same intended use may go through the FDAs 510(k) pathway, whereby devices can obtain clearance by demonstrating substantial equivalence to a predicate device.

The FDA granted marketing authorization of the AmplideX Fragile X Dx and Carrier Screen Kit to Asuragen Inc.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nations food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.

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FDA Authorizes Marketing of the First Genetic Test to Aid in the Diagnosis of Fragile X Syndrome - FDA.gov

The World Health Organization (WHO) recently declared an international public health emergency over the global outbreak of the novel coronavirus. One day later, the Wellcome Trust research charity called for researchers, journals and funders around the world to share research data and findings relevant to the coronavirus rapidly and openly, to inform the public and help save lives.

On the same day, the China National Knowledge Infrastructure launched a free website and called for scientists to publish research on the coronavirus with open access. Shortly after, the prominent scientific journal Nature issued an editorial urging all coronavirus researchers to keep sharing, stay open.

So while cities are locked down and borders are closed in response to the coronavirus outbreak, science is becoming more open. This openness is already making a difference to scientists response to the virus and has the potential to change the world.

But its not as simple as making every research finding available to anyone for any purpose. Without care and responsibility, there is a danger that open science can be misused or contribute to the spread of misinformation.

Open science can come in a variety of forms, including open data, open publications and open educational resources.

1. Open data

DNA sequencing is of great importance to developing specific diagnostic kits around the world. Yong-Zhen Zhang and his colleagues from Fudan University in Shanghai were the first to sequence the DNA of the novel coronavirus. They placed the gene sequence in GenBank, an open-access data repository. Researchers around the world immediately started analysing it to develop diagnostics.

As of February 19 2020, 81 different coronavirus gene sequences had been shared openly via GenBank and 189 via the China National Genomics Data Centre. They provide the data that will allow scientists to decode the mystery of the virus and hopefully find a treatment or vaccine.

The WHO and national organisations like the Chinese Center for Disease Control and Prevention also publish open statistical data, such as the number of patients. This can help researchers to map the spread of the virus and offer the public up-to-date and transparent information.

2. Open publications

Science publications are costly. One of the most expensive Elsevier journals, Tetrahedron Letters, costs 16,382 for an institutional annual subscription and 673 for a personal one. Even the University of Harvard cannot afford to subscribe to all journals. This means not all researchers have access to all subscription-based publications.

Authors can publish their articles free to access, which often means they need to pay the publishers an average 2,000 in article processing costs. In 2018, only 36.2% of science publications were open-access.

As of February 18 2020, there were 500 scientific articles about the novel coronavirus in the comprehensive scholarly database Dimensions. Only 160 (32%) of them were in open-access publications. This includes preprint servers such as bioRxiv and arXiv, which are widely used open-access archives to publish research before it goes through scientific peer review.

Normally, you would need to pay subscription fees to read any of the other 340 articles. However, articles published by the 100 companies who have signed the Wellcome Trusts statement on sharing coronavirus research have been made freely accessible by publishers.

Major publishers including Elsevier, Springer Nature, Wiley Online Library, Emerald, Oxford University Press and Wanfang have also set up featured open-access resources page. The Chinese database CQVIP has offered free access to all of its 14,000 journals during the coronavirus outbreak.

As it takes on average 160 days for a preprint to be published after peer review, sharing preprints can save time and save life. Free access to articles on the coronavirus can also accelerate global research on this subject.

3. Open educational resources

Due to the outbreak, universities in China have postponed their new semesters and switched to online learning. But alongside the 24,000 online courses open to students, universities (including the elite Peking University, Tsinghua University and Xian Jiaotong University) are offering free online courses to the public about the coronavirus. Such courses can offer the public reliable information grounded in academic research, helping them better understand and protect themselves against the virus.

While all these developments are positive, it is important to remember that open science doesnt mean science without limits. It must be used responsibly by researchers and the public.

To start, researchers need to have mutual respect for the integrity of their work. For example, there have reportedly already been disagreements over whether scientists need to request consent to reuse pre-publication data from shared coronavirus gene sequencing.

Assuming researchers act in good faith and not to simply further their own careers, it is still important for them to clarify the conditions with which they make their research available, and to carefully check and follow such conditions when using other peoples data. Responsible uses of pre-publication data are vital to fostering a scientific culture that encourages transparent and explicit cooperation.

There are also issues with making research available without peer review - as happens with preprint servers - as misinterpretations and mistakes can easily happen. One paper posted on bioRxiv on February 2 2020 claimed to show insertions in the coronaviruss DNA that showed an uncanny similarity to regions found in HIV DNA.

After criticism of the their work, the papers authors withdrew it stating they did not intend to feed into the conspiracy theories that the novel coronavirus had been deliberately engineered. Such conspiracy theories were recently condemned by 27 scientists from eight countries in their open statement to the leading medical journal The Lancet.

Yet until February 19 2020, the withdrawn paper was the most discussed study in the world in online news and social media, according to the academic ranking site Altmetric. The paper may have been withdrawn but it wont have been forgotten.

Open science is vital to tackling the worlds big challenges. But when information can be misused, skewed or misinterpreted at global level so quickly, we also need scientists and the public to treat open science with great care and responsibility.

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The hunt for a coronavirus cure is showing how science can change for the better - The Conversation UK

Each week, The Dailys Science & Tech section produces a roundup of the most exciting and influential research happening on campus or otherwise related to Stanford. Heres our digest for the week of Feb. 16 Feb. 22.

Artificial intelligence decreases testing time for car batteries

An artificial intelligence (AI)-based method has decreased electric vehicle (EV) battery testing time from around two years to 16 days, a 98% reduction, according to a study published on Feb. 19 in Nature.

In battery testing, you have to try a massive number of things, because the performance you get will vary drastically, computer science assistant professor Stefano Ermon told Stanford News. With AI, were able to quickly identify the most promising approaches and cut out a lot of unnecessary experiments.

The researchers focused on finding the charging method for an EV battery that maximizes the batterys lifetime. The AI program efficiently tested battery protocols to figure out the best optimal protocols for charging.

It gave us this surprisingly simple charging protocol something we didnt expect, Ermon told Stanford News. Thats the difference between a human and a machine: The machine is not biased by human intuition, which is powerful but sometimes misleading.

Increased gene activity associated with fish embryo diapause

An increase in the activity of a specific gene has been identified in African killifish embryos that undergo a hibernation-like state, called diapause, during early development, found a study published on Feb. 21 in Science.

African killifish enter diapause to avoid the harsh conditions during the dry season, and exit diapause when conditions are optimal for development.

Diapause lasts around five months, about the same as an average African killifish lifespan, genetics professor Anne Brunet told Stanford Medicine News. But some killifish have stayed in diapause for 2.5 years. If you think about that in human terms, thats like if we were to exist, paused as an embryo, for some 400 years, only to resume natural development and live out a full life.

The findings suggested that during the diapause period, activity of the CBX7 gene increases. The gene is associated with regulating muscle maintenance, and African killifish embryos lacking CBX7 display muscle atrophy, which leads to exiting diapause too early.

As time passes, our organs progressively degenerate, especially in disease, Brunet told Stanford Medicine News. So identifying the general, fundamental mechanisms of organ preservation could be important to understanding how to counter the normal atrophy of organs over time or under disease conditions.

Extinctions of smaller ocean creatures throughout the past 485 million years

A fossil study indicated that the extinctions of smaller ocean organisms were more common than previously thought, according to a report published on Jan. 30 in Paleobiology.

Our findings suggest that the controls on extinction risk for marine animals across evolutionary time were quite different from those that are operating in the current extinction crisis, but were consistent across time and distantly related groups of animals, geological sciences Jonathan Payne told Stanford Earth News.

The researchers analyzed fossils related to the bivalve group Pectinida. The findings suggest that bivalve-related organisms, pancake-thin and smaller than a human palm, went extinct disproportionately more often than larger species. Larger bivalve-related organisms were more likely to survive.

The fossil record is our only archive of past extinction events, Payne told Stanford Earth News. This finding adds substantial urgency to our efforts to conserve species and ecosystems before extinction occurs.

Contact Derek Chen at derekc8 at stanford.edu.

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Research Roundup: Battery car testing, African killifish embryos and ocean organism extinctions - The Stanford Daily

Treatment for sickle cell disease has come a long way since the 1970s when the life expectancy of people living with it was less than 20 years.

People with sickle cell disease are not only living longer life expectancy is now 42 to 47 years of age but are enjoying a better quality of life, too.

"In the Philadelphia area, there has been great pediatric care for sickle cells disease and because of that people who have it are living very well," said Dr. Farzana Sayani, a hematologist at Penn Medicine.

Sayani is the director of a comprehensive sickle cell program focusing on adults living with the disease. Penn also has an active transition program for youth transitioning from a pediatric institution to adult care.

Sickle cell disease is an inherited red blood cell disorder that affects about 100,000 Americans.It is most often found in people of African or Hispanic descent.About 1 in 365 African-American babies are born with sickle cell disease, according to Sayani.

People who have the disease inherit an abnormal type of hemoglobin in their red blood cells, called Hemoglobin S, from both their mother and father.When only one parent has the hemoglobin S gene, a child will have the sickle cell trait, but usually does not develop the disease. But they may pass it on to their children.

Hemoglobin is the protein in the blood responsible for carrying oxygen to the rest of the body. Hemoglobin S causes red blood cells to become stiff and sickle-shaped. Instead of being round in shape, they look like crescent moons.

Sickle cells are sticky and can bind together, blocking the flow of blood and preventing oxygen from getting where it needs to go in the body. This causes sudden attacks of pain referred to as a pain crisis.

There are severaldifferent types of sickle cell disease.Hemoglobin SS, also known as sickle cell anemia, is the most common and most severe type of sickle cell disease.

Anemia occurs when red blood cells die at a rate faster than the body can replace them. Normal red blood cells generally live for 90 to 120 days. Sickled cells only live for 10 to 20 days. This shorter life-to-death cycle is harder for the body to sustain.

Another form,Hemoglobin SC, is not as severe as sickle cell anemia, but it can still cause significant complications, Sayani said.Other forms include Hemoglobin S0 thalassemia, Hemoglobin S+ thalassemia, Hemoglobin SD and Hemoglobin SE.

Sickle cell disease screening is a mandatory part of newborn screenings in Pennsylvania.

If the screening is positive, the family is informed and plugged into the health care system in order to receive the proper care.

If the disease is not diagnosed at birth, a blood test can confirm it at any age in which symptoms start to surface.

The severity of sickle cell disease can vary.

Each individual is affected differently, making it difficult to predict who will get what complications, Sayani said. That is why a comprehensive sickle cell program is so important.

Early signs include a yellowish tint to the skin or jaundice, fatigue and a painful swelling of the hands and feet.

"Young children with sickle cell disease may be tired, not eat very well and have delayed growth," Sayani said. "They may also develop anemia, be at greater risk of infection and start to experience pain crises."

Acute pain crises, also known as vaso-occlusive crises, can lead to long stays in the hospital to manage the crippling pain. Children with sickle cell disease also tend to experience delayed growth and puberty.

As a person with sickle cell disease grows older, the sickled red blood cells start to affect various organs, bones and joints.

This can lead to acute chest syndrome, which occurs when damaged lung tissues makes it difficult to breathe. Brain complications, including stroke, are possible.People with sickle cell disease are also prone to heart damage, eye problems, and infections like chlamydia, salmonella and staphylococcus. Chronic and acute pain is common.

There are different types of medicine that can help manage sickle cell disease.

Last year, an oral medicine was approved that makes sickle cells less likely to sickle. So was an intravenous medicine that has been shown to reduce pain crises and hospitalizations by 50%. Some people living with sickle cell disease also may need regular blood transfusions.

Hydroxyurea has also been used successfully for many years to reduce pain crises and the need for blood transfusions and hospitalizations.

Currently, blood and bone marrow transplant is the only way to cure the disease. But it is not an option for everyone because of the difficulty of finding a well-matched stem cell donor.

A related donor is best but only about a third of sickle cell patients have a donor that is related and fully-matched, Sayani said.

While these transplants have a 85% or more success rate, they also are associated with significant risks, including organ dysfunction, infection and graft vs. host disease which can be quite debilitating.

Transplants completed in children have the best results, Sayani said. But because of the risks involved, doctors only suggest it for patients with severe forms of the disease.

Early clinical trials with gene therapy are also showing promise, she added.

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New sickle cell disease treatments are helping people live longer and giving them a higher quality of life - PhillyVoice.com