Category Archives: Gene Medicine

In Brief The CRISPR process will be used inside the human body for the first time on July 15th to combat HPV, which impacts millions of people worldwide. And this is just one of a huge amount of proposed CRISPR studies occurring soon. Uninvasive CRISPR

A new CRISPR trial, which hopes to eliminate thehuman papillomavirus (HPV), is set to be the first to attempt to use thetechnique inside the human body. In the non-invasive treatment, scientists will apply a gel that carries the necessary DNA coding for the CRISPR machinery to the cervixes of 60 women between the ages of 18 and 50. The team aims to disable the tumor growth mechanism in HPV cells.

The trial stands in contradistinction to the usual CRISPR method of extracting cells and re-injecting them into the affected area; although it will still use the Cas9 enzyme (which acts as a pair of molecular scissors) and guiding RNA that is typical of the process.

20 trials are set to begin in the rest of 2017 and early 2018. Most of the research will occur in China, and will focus on disabling cancers PD-1 gene that fools the human immune system into not attacking the cells. Different trials are focusing on different types of cancer including breast, bladder, esophageal, kidney, and prostate cancers.

The study, if it succeeds, will be promising for sufferers of HPV and act as a milestone in the CRISPR process. Although HPV is not necessarily cancerous, it cancause cervical cancer. In the U.S. alone, there are more than 3 million new infections every year.Although there is a vaccine for the virus, currently, once you have it you can never get rid of it.

More generally, the CRISPR process could be nothing short of a miracle: if it passes all medical tests it wouldnt just make medicine a whole new kettle of fish, it would reinvent the kettleand the fish, for almost any field. It is cheaper than other gene editing therapies, and could potentially save millions of lives by curing diseases we can only deal with therapeutically like cancer, diabetes and cystic-fibrosis. Crops could be altered more effectively using the process. Drugs and materials that were never possible before could be pioneered.

However, it is still extremely nascent technology, and many fear that there could also be a host of unexpected consequences. Recently, it has been found that it causes hundreds of unexpected mutations in DNA. While these concerns are valid, more research is necessary. Which is why the upcoming studies over the next few years are so vital to the future of our health.

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A World First CRISPR Trial Will Edit Genes Inside the Human Body - Futurism

May 29, 2017 CRISPR-associated protein Cas9 (white) from Staphylococcus aureus based on Protein Database ID 5AXW. Credit: Thomas Splettstoesser (Wikipedia, CC BY-SA 4.0)

As CRISPR-Cas9 starts to move into clinical trials, a new study published in Nature Methods has found that the gene-editing technology can introduce hundreds of unintended mutations into the genome.

"We feel it's critical that the scientific community consider the potential hazards of all off-target mutations caused by CRISPR, including single nucleotide mutations and mutations in non-coding regions of the genome," says co-author Stephen Tsang, MD, PhD, the Laszlo T. Bito Associate Professor of Ophthalmology and associate professor of pathology and cell biology at Columbia University Medical Center and in Columbia's Institute of Genomic Medicine and the Institute of Human Nutrition.

CRISPR-Cas9 editing technologyby virtue of its speed and unprecedented precisionhas been a boon for scientists trying to understand the role of genes in disease. The technique has also raised hope for more powerful gene therapies that can delete or repair flawed genes, not just add new genes.

The first clinical trial to deploy CRISPR is now underway in China, and a U.S. trial is slated to start next year. But even though CRISPR can precisely target specific stretches of DNA, it sometimes hits other parts of the genome. Most studies that search for these off-target mutations use computer algorithms to identify areas most likely to be affected and then examine those areas for deletions and insertions.

"These predictive algorithms seem to do a good job when CRISPR is performed in cells or tissues in a dish, but whole genome sequencing has not been employed to look for all off-target effects in living animals," says co-author Alexander Bassuk, MD, PhD, professor of pediatrics at the University of Iowa.

In the new study, the researchers sequenced the entire genome of mice that had undergone CRISPR gene editing in the team's previous study and looked for all mutations, including those that only altered a single nucleotide.

The researchers determined that CRISPR had successfully corrected a gene that causes blindness, but Kellie Schaefer, a PhD student in the lab of Vinit Mahajan, MD, PhD, associate professor of ophthalmology at Stanford University, and co-author of the study, found that the genomes of two independent gene therapy recipients had sustained more than 1,500 single-nucleotide mutations and more than 100 larger deletions and insertions. None of these DNA mutations were predicted by computer algorithms that are widely used by researchers to look for off-target effects.

"Researchers who aren't using whole genome sequencing to find off-target effects may be missing potentially important mutations," Dr. Tsang says. "Even a single nucleotide change can have a huge impact."

Dr. Bassuk says the researchers didn't notice anything obviously wrong with their animals. "We're still upbeat about CRISPR," says Dr. Mahajan. "We're physicians, and we know that every new therapy has some potential side effectsbut we need to be aware of what they are."

Researchers are currently working to improve the components of the CRISPR systemits gene-cutting enzyme and the RNA that guides the enzyme to the right geneto increase the efficiency of editing.

"We hope our findings will encourage others to use whole-genome sequencing as a method to determine all the off-target effects of their CRISPR techniques and study different versions for the safest, most accurate editing," Dr. Tsang says.

The paper is titled, "Unexpected mutations after CRISPR-Cas9 editing in vivo." Additional authors are Kellie A. Schafer (Stanford University), Wen-Hsuan Wu (Columbia University Medical Center), and Diana G. Colgan (Iowa).

Explore further: Accurate DNA misspelling correction method

More information: Unexpected mutations after CRISPR-Cas9 editing in vivo, Nature Methods (2017).

Researchers at the Institute of Basic Science (IBS) proved the accuracy of a recently developed gene editing method. This works as "DNA scissors" designed to identify and substitute just one nucleotide among the 3 billion. ...

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The IBS research team (Center for Genome Engineering) has successfully confirmed that CRISPR-Cas9 has accurate on-target effects in human cells, through joint research with the Seoul National University College of Medicine ...

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Using the new gene-editing enzyme CRISPR-Cpf1, researchers at UT Southwestern Medical Center have successfully corrected Duchenne muscular dystrophy in human cells and mice in the lab.

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If a person has 3 months to live and they use crispr/cas9 to cure the cancer, and it works, what is the worst than can happen to him?

I'm not a biologist, so no idea how conceivable or absurd that idea might be. But then there's the whole thing with the Tasmanian devils. Anyway, you asked about worst cases, and that is one possible thing that people who are against this might be thinking.

Open a door, find 12 new doors. Like the knowledge that carbon nanos caused cancer but the powers-that-be decided we should use it any way because it was so convenient.

We are so screwed! This is worse than the advent of nuclear weapons.

this might cause regulated interests to think twice before deploying this for profit. It will not help us at all against weaponized CRISPR, though...

Crispr is the only way the human race will survive. Without it the machines rule. With crispr the human race increases everyone's IQ 10 fold. The vary smartest of us say "be very afraid of AI". Musk likened AI to a devil in a bottle. It's the 2nd level of our most brilliant people that can't see the danger AI poses. Raise everyone's IQ by 10X and we will make much better decisions and solve the current world's problems overnight.

Meatbrains are passe which is why we are so intent on replacing them.

Watch Forbidden Planet to see what happens when you mix intelligence with the need to survive to procreate.

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CRISPR gene editing can cause hundreds of unintended mutations - Phys.Org

Xconomy Boulder/Denver

The randomized controlled trial has long been held up as the gold standard for testing new drugs. But the nations top drug evaluator, Janet Woodcock, believes they arent necessary for all new experimental treatments. Randomized trials are long, expensive to run, and ultimately produce limited answers, she said at a medical conference last week.

The ability to use genetic information to classify patients and match them to potential therapies opens up new possibilities for evaluating drugs. As these capabilities increase, Woodcock says, the FDA should adjust its approach to reviewing drugs.

People have been very happy with the use of the traditional standard randomized controlled trial, Woodcock said last Thursday at the Precision Medicine World Conference at Duke University. People know how to interpret that evidence. Yet that may not be appropriate for some of these diseases.

The FDA has shown such flexibility with two recent approvals based on better genetic insights. Last week, the FDA approved Mercks (NYSE: MRK) cancer drug pembrolizumab (Keytruda) for all solid tumors with a specific genetic signature, regardless of where in the body the cancer started. That decision came days after the regulator expanded use of Vertex Pharmaceuticals (NASDAQ: VRTX) cystic fibrosis drug, ivacaftor (Kalydeco), so more patients with a particular genetic mutations could get treatment. The additional approvals for both drugs did not require the companies to conduct more randomized controlled trials. Woodcock described the approvals as landmarks for precision medicine.

Pembrolizumab was already approved to treat cancers of the skin, lung, and bladder, among others. The data supporting the latest approval for the Kenilworth, NJ-based companys drug came from open-label basket trials that simultaneously tested pembrolizumab on a variety of tumors that all share a specific genetic alteration. Patients were selected for the studies based on genetic tests that identified that signature, a predictor of whether they would respond to the Merck therapy. The FDAs ruling was an accelerated approval, meaning Merck must gather additional evidence to confirm the earlier studies. Woodcock said that this type of flexible approach is particularly important for diseases that have no treatment alternatives.

Genetic information has also played a role in the development and approval of Vertexs cystic fibrosis drug, ivacaftor. The drug was initially approved to treat patients who have specific mutations that indicate they would respond to the drug. On May 17, the FDA expanded the approval from 10 mutations to 33. Woodcock said the FDA based this decision on several factors, but the main evidence was a laboratory test that showed the drug could also help CF patients with more gene mutations. Woodcock said that this decision opens a pathway for drugs in cystic fibrosis and other diseases that have similar signs and symptoms. After a drug is first approved, a drugmaker could get additional approvals for additional patient subsets by using the lab test, rather than conducting a randomized clinical trial for each group.

The FDA and drug companies have been talking about adding new approaches to clinical trials for years, and that effort is now getting a nudge forward under federal law. Among the provisions of the wide-ranging 21st Century Cures Act, signed into law last year, are requirements that the FDA hold public hearings and issue guidance to help drug companies use new clinical trial designs to test their drugs. The law also calls on the FDA to use real-world evidence to support applications for new uses of already approved drugs. (Regulatory Affairs has a good breakdown of what the new federal law means for the FDA.)

Woodcock didnt reference the Cures Act in her remarks. But she said that for some drugs, different trial designs are warranted. Platform trials might be useful to evaluate multiple drugs and drug combinations simultaneously, with the ability to adjust the studies on the fly by adding or dropping arms. This flexibility allows Next Page

Frank Vinluan is editor of Xconomy Raleigh-Durham, based in Research Triangle Park. You can reach him at fvinluan [at] xconomy.com

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Woodcock: New Approvals Show FDA is Adapting to Precision Medicine - Xconomy

The oncologist was blunt: Stefanie Johos colon cancer was raging out of control and there was nothing more she could do. Flanked by her parents and sister, the 23-year-old felt something wet on her shoulder. She looked up to see her father weeping.

I felt dead inside, utterly demoralized, ready to be done, Joho remembers.

But her younger sister couldnt accept that. When the family got back to Johos apartment in New Yorks Flatiron district, Jess opened her laptop and began searching frantically for clinical trials, using medical words shed heard but not fully understood. An hour later, she came into her sisters room and showed her what shed found. Im not letting you give up, she told Stefanie. This is not the end.

That search led to a contact at Johns Hopkins University, and a few days later, Joho got a call from a cancer geneticist co-leading a study there. Get down here as fast as you can! Luis Diaz said. We are having tremendous success with patients like you.

What followed is an illuminating tale of how one womans intersection with experimental research helped open a new frontier in cancer treatment with approval of a drug that, for the first time, capitalizes on a genetic feature in a tumor rather than on the diseases location in the body.

The breakthrough, made official last week by the Food and Drug Administration, immediately could benefit some patients with certain kinds of advanced cancer that arent responding to chemotherapy. Each should be tested for that genetic signature, scientists stress.

These are people facing death sentences, said Hopkins geneticist Bert Vogelstein. This treatment might keep some of them in remission for a long time.

In August 2014, Joho stumbled into Hopkins for her first infusion of the immunotherapy drug Keytruda. She was in agony from a malignant mass in her midsection, and even with the copious amounts of oxycodone she was swallowing, she needed a new fentanyl patch on her arm every 48 hours. Yet within just days, the excruciating back pain had eased. Then an unfamiliar sensation hunger returned. She burst into tears when she realized what it was.

As months went by, her tumor shrank and ultimately disappeared. She stopped treatment this past August, free from all signs of disease.

[Negotiating cancer: Tips from one whos done it ]

The small trial in Baltimore was pivotal, and not only for the young marketing professional. It showed that immunotherapy could attack colon and other cancers thought to be unstoppable. The key was their tumors genetic defect, known as mismatch repair (MMR) deficiency akin to a missing spell-check on their DNA. As the DNA copies itself, the abnormality prevents any errors from being fixed. In the cancer cells, that means huge numbers of mutations that are good targets for immunotherapy.

The treatment approach isnt a panacea, however. The glitch under scrutiny which can arise spontaneously or be inherited is found in just 4percent of cancers overall. But bore in on a few specific types, and the scenario changes dramatically. The problem occurs in up to 20percent of colon cancers and about 40percent of endometrial malignancies cancer in the lining of the uterus.

In the United States, researchers estimate that initially about 15,000 people with the defect may be helped by this immunotherapy. That number is likely to rise sharply as doctors begin using it earlier on eligible patients.

Joho was among the first.

***

Even before Joho got sick, cancer had cast a long shadow on her family. Her mother has Lynch syndrome, a hereditary disorder that sharply raises the risk of certain cancers, and since 2003, Priscilla Joho has suffered colon cancer, uterine cancer and squamous cell carcinoma of the skin.

Stefanies older sister, Vanessa, had already tested positive for Lynch syndrome, and Stefanie planned to get tested when she turned 25. But at 22, several months after she graduated from New York University, she began feeling unusually tired. She blamed the fatigue on her demanding job. Her primary-care physician, aware of her mothers medical history, ordered a colonoscopy.

When Joho woke up from the procedure, the gastroenterologist looked like a ghost, she said. A subsequent CT scan revealed a very large tumor in her colon. Shed definitely inherited Lynch syndrome.

She underwent surgery in January 2013 at Philadelphias Fox Chase Cancer Center, where her mother had been treated. The news was good: The cancer didnt appear to have spread, so she could skip chemotherapy and follow up with scans every three months.

[More than two-thirds of cancer mutations are due to random DNA copying errors, study says]

By August of that year, though, Joho started having relentless back pain. Tests detected the invasive tumor in her abdomen. Another operation, and now she started chemo. Once again, in spring 2014, the cancer roared back. Her doctors in New York, where she now was living, switched to a more aggressive chemo regimen.

This thing is going to kill me, Joho remembered thinking. It was eating me alive.

She made it to Jesss college graduation in Vermont that May. Midsummer, her oncologist confessed he was out of options. As he left the examining room, he mentioned offhandedly that some interesting work was going on in immunotherapy. But when Joho met with a hospital immunologist, that doctor told her no suitable trials were available.

Joho began planning to move to her parents home in suburban Philadelphia: I thought, Im dying, and Id like to breathe fresh air and be around the green and the trees.

Her younger sister wasnt ready for her to give up. Jess searched for clinical trials, typing in immunotherapy and other terms shed heard the doctors use. Up popped a trial at Hopkins, where doctors were testing a drug called pembrolizumab.

***

Pembro is part of a class of new medications called checkpoint inhibitors that disable the brakes that keep the immune system from attacking tumors. In September 2014, the treatment was approved by the FDA for advanced melanoma and marketed as Keytruda. The medication made headlines in 2015 when it helped treat former president Jimmy Carter for melanoma that had spread to his brain and liver. It later was cleared for several other malignancies.

Yet researchers still dont know why immunotherapy, once hailed as a game changer, works in only a minority of patients. Figuring that out is important for clinical as well as financial reasons. Keytruda, for example, costs about $150,000 a year.

By the time Joho arrived at Hopkins, the trial had been underway for a year. While an earlier study had shown a similar immunotherapy drug to be effective for a significant proportion of patients with advanced melanoma or lung or kidney cancer, checkpoint inhibitors werent making headway with colon cancer. A single patient out of 20 had responded in a couple of trials.

Why did some tumors shrink and others didnt? What was different about the single colon cancer patient who benefited?

Drew Pardoll, director of the Bloomberg-Kimmel Institute for Cancer Immunotherapy at Hopkins, and top researcher Suzanne L. Topalian took the unusual step of consulting with the cancer geneticists who worked one floor up.

This was the first date in what became the marriage of cancer genetics and cancer immunology, Pardoll said.

[A consumers guide to the hottest field in cancer treatments immunotherapy]

In a brainstorming session, the geneticists were quick to offer their theories. They suggested that the melanoma and lung cancer patients had done best because those cancers have lots of mutations, a consequence of exposure to sunlight and cigarette smoke. The mutations produce proteins recognized by the immune system as foreign and ripe for attack, and the drug boosts the systems response.

And that one colon-cancer patient? As Vogelstein recalls, We all said in unison, He must have MMR deficiency! because such a genetic glitch would spawn even more mutations. The abnormality was a familiar subject to Vogelstein, who in the 1990s had co-discovered its role in the development of colon cancer. But the immunologists hadnt thought of it.

When the patients tumor tissue was tested, it was indeed positive for the defect.

The researchers decided to run a small trial, led by Hopkins immunologist Dung Le and geneticist Diaz, to determine whether the defect could predict a patients response to immunotherapy. The pharmaceutical company Merck provided its still-experimental drug pembrolizumab. Three groups of volunteers were recruited: 10 colon cancer patients whose tumors had the genetic problem; 18 colon cancer patients without it; and 7 patients with other malignancies with the defect.

The first results, published in 2015 in the New England Journal of Medicine, were striking. Four out of the 10 colon cancer patients with the defect and 5 out of the other 7cancer patients with the abnormality responded to the drug. In the remaining group, nothing. Since then, updated numbers have reinforced that a high proportion of patients with the genetic feature benefit from the drug, often for a lengthy period. Other trials by pharmaceutical companies have shown similar results.

The Hopkins investigators found that tumors with the defect had, on average, 1,700 mutations, compared with only 70 for tumors without the problem. That confirmed the theory that high numbers of mutations make it more likely the immune system will recognize and attack cancer if it gets assistance from immunotherapy.

The studies were the foundation of the FDAs decision on Tuesday to green-light Keytruda to treat cancers such as Johos, meaning malignancies with certain molecular characteristics. This first-ever site-agnostic approval by the agency signals an emerging field of precision immunotherapy, Pardoll said, one in which genetic details are used to anticipate who will respond to treatments.

***

For Joho, now 27 and living in suburban Philadelphia, the hard lesson from the past few years is clear: The cancer field is changing so rapidly that patients cant rely on their doctors to find them the best treatments. Oncologists can barely keep up, she said. My sister found a trial I was a perfect candidate for, and my doctors didnt even know it existed.

Her first several weeks on the trial were rough, with an early hospitalization after she cut back too quickly on her fentanyl and went into withdrawal. She still has some lasting side effects today joint pain in her knees, minor nausea and fatigue but they are manageable.

I have had to adapt to some new limits, she acknowledged. But I still feel better than I have in five years.

The FDAs decision last week was an emotional moment. Diaz, now at Memorial Sloan Kettering Cancer Center in New York, immediately texted her. We did it! he exulted.

I got chills all over my body, Joho said. To think that I was at the end of the road, with no options, and then to be part of such a change.

Her experience has prompted her to drop plans to go back into marketing. Now she wants to help patients navigate the new cancer landscape. Become an expert on your cancer is her message. Dont be passive. She encourages patients to try clinical trials.

As a cancer survivor with Lynch syndrome, Joho will be closely watched; if she relapses, she is likely to be treated again with immunotherapy. And if her mother relapses, Keytruda might now be her best chance.

Coming out the other side, I feel really lucky, Joho said. Shes also grateful for something else: A few years ago, her sister Jess was tested for the disorder that has so affected their family. She was negative.

See the article here:
'This is not the end': Using immunotherapy and a genetic glitch to give cancer patients hope - Washington Post

Philadelphia downtown cityscape on Broad Street at City Hall.

Philadelphia views itself as a city that should be able to compete more effectively with the likes of New York and Boston as an innovation hub, particularly in the realm of life sciences and healthcare. But it doesnt have enough serial entrepreneurs, capital, or talent, at least compared with other cities. A Brookings Institution assessment team reached these and other conclusions and made a series of recommendations of how to better position Philly as an innovative city.

It recommended that Philadelphia should focus on building its reputation in precision medicine by making the most of itsresources here.

The Emerging Innovation District Pilot Study, which was produced by the Anne T. and Robert M. Bass Initiative on Innovation and Placemaking, also highlighted digital health and industries tied to the states natural gas exploration as opportunities for the city tobuild an edge. Its the product of an 18-month research initiative to answer the question of how University City and Center City can help Philadelphia excel on a global stage and improve its role as a regional economic hub.

Some of the 10 institutions that worked with the institution included Comcast, Drexel University, the Childrens Hospital of Philadelphia, Independence Blue Cross, the University City Science Center, the University of Pennsylvania as well as the University of Pennsylvania Health System, and investment manager Vanguard.

Another recommendation from the report was the formation of an Innovation Council with the influence and authority to bring a diverse group of key industry, public and civic stakeholders together around a common vision and narrative. The members of this council would identify a set of strategies and initiatives to grow the regional innovation economy, and to identify the organizations best poised to lead each of them.

On the topic of precision medicine, the report noted:

Given the regions public and private strengths in the life sciences, its broad clinical care capabilities, its large catchment of patients, and the depth of bio-specimens (which support future scientific discoveries), we recommend that the council focus its initial efforts on creating a Precision Medicine Catalyst Initiativea central organizing force that has the ability to pool resources and capture the full value of the regions research and commercialization capacity in gene therapy. The purpose of the initiative would be to both coordinate existing institutions that specialize in the cluster and connect them with the citys entrepreneurs and business support servicesincluding law and business programs and industry partners in these areaswith the goal of developing regional expertise in the wrap-around services that the cluster will demand.

The report offered some more specific recommendations for mapping out this precision medicine initiative:

Penn, for example, has a gene therapy collaboration with Novartis through the Novartis-Penn Center for Advanced Cellular Therapeutics and Childrens Hospital of Philadelphia spinout Spark Therapeutics, a gene therapy company, IPOd in 2015. Collectively, Philadelphias academic institutions generate about $640 million in research funding from the National Institutes of Health. But Philly institutions compete with each other for this funding and other resources. The idea of a citywide collaboration sounds ideal but it ignores the larger reality of the diverse corporate cultures of these groups. If it were so easy to collaborate on a large scale, wouldnt this have happened years ago? Instead, there are lot of smaller collaborations to promote startups and entrepreneurship.

Still, members of Brookings made clear in the report that in a world where the federal government is dysfunctional and the state has been absent, cities like Philly have to be more creative, make the most of their own institutions and collaborate in more innovative ways.

Other report recommendations included developing an Anchor Firm Entrepreneurship Initiative that would use the resources of anchor technology firms to strengthen the regions startup landscape. The goal would be to connect the citys startups with customers, support training and mentorship programs, boost access to investment, and help develop physical spaces in which startups can grow.

Education that would zero in on skills needed to foster local talent in support of the anchor industries would be designed to ensure that city residents in a wider number of communities were positioned to benefit from precision medicine and other technology jobs.

Photo: SeanPavonePhoto, Getty Images

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Philly should pool precision medicine resources in Brookings Institution assessment - MedCity News

May 29, 2017

Urinary incontinence in women is common, with almost 50% of adult women experiencing leakage at least occasionally. Genetic or heritable factors are known to contribute to half of all cases, but until now studies had failed to identify the genetic variants associated with the condition. Speaking at the annual conference of the European Society of Human Genetics today (Monday), Dr Rufus Cartwright, MD, a visiting researcher in the Department of Epidemiology and Biostatistics, Imperial College, London, UK, will say that his team's investigations hold out the promise that drugs already used for the treatment of other conditions can help affected women combat this distressing problem.

Pelvic floor disorders, including urinary incontinence, but also faecal incontinence and pelvic organ prolapse, have a devastating effect on quality of life. Most commonly they occur after childbirth, or at menopause, though some women report incontinence dating from childhood. Of the 25% who are affected sufficiently for it to affect their daily lives, most suffer from stress incontinence - the loss of small amounts of urine associated with laughing, coughing, sneezing, exercising or other movements that increase pressure on the bladder. Isolated urgency incontinence - where a sudden pressing need to urinate causes the leakage of urine - affects only around 5% of women, and 5-10% have a combination of both forms.

"25% of adult women will experience incontinence severe enough to impact on their quality of life," says Dr Cartwright. "Finding a genetic cause and a potential treatment route is therefore a priority."

The researchers undertook a genome-wide association study (GWAS) in just under 9,000 women from three groups in Finland and the UK, confirming their findings in six further studies. Genome-wide association studies work by scanning markers across the complete sets of DNA of large numbers of people in order to find genetic variants associated with a particular disease.

Analysis of the study data yielded a risk locus for urinary incontinence close to the endothelin gene, known to be involved in the ability of the bladder to contract. Drugs that work on the endothelin pathway are already used in the treatment of pulmonary hypertension and Raynaud's syndrome, a condition where spasm of the arteries causes reduced blood flow, most usually to the fingers.

"Previous studies had failed to confirm any genetic causes for incontinence. Although I was always hopeful that we would find something significant, there were major challenges involved in finding enough women to participate, and then collecting the information about incontinence. It has taken more than five years of work, and has only been possible thanks to the existence of high quality cohort studies with participants who were keen to help," says Dr Cartwright.

Current treatment for urinary incontinence in women includes pelvic floor and bladder training, advice on lifestyle changes (for example, reducing fluid intake and losing weight), drugs to reduce bladder contraction, and surgery.

However, as the number of identified risk variants for urinary incontinence grows, there will be potential to introduce genetic screening for the condition, and improve advice to pregnant women about the likely risks of incontinence in order that they may make an informed choice about delivery method. "We know that a caesarean section offers substantial protection from incontinence. However, across Europe there are efforts to reduce caesarean section rates, and establishing such a screening programme during pregnancy may run against current political objectives in many maternity care systems.

"Clearly this will need further debate and an analysis, not just of the cost to healthcare systems, but also of the benefit to women who may be spared the distress of urinary incontinence," Dr Cartwright will conclude.

Chair of the ESHG conference, Professor Joris Veltman, Director of the Institute of Genetic Medicine at Newcastle University, Newcastle, United Kingdom, said: "This work reveals the first links between urinary incontinence and genetic factors. It provides important insight into the biological mechanisms for incontinence and suggests the potential of identifying women at risk."

Explore further: Urinary incontinence is common also in women who have not given birth

Women who have not given birth often end up under the radar for research on urinary incontinence. In a study of this group, however, one in five women over 45 years say they experience this type of incontinence.

According to a study published in the distinguished journal PLOS ONE, urinary incontinence symptoms in middle-aged woman are linked to lower levels of exercise. Involuntary urinary incontinence symptoms can discourage sufferers ...

(HealthDay)Effective treatment options exist for women with urinary incontinence that don't involve medication or surgery, according to new guidelines from the American College of Physicians.

A new study indicates that the benefits of duloxetine, a drug used in Europe to treat stress incontinence in women, do not outweigh the harms. The article is published in CMAJ (Canadian Medical Association Journal).

For millions of women, childbirth is a somewhat daunting yet thoroughly rewarding process. In the western world, many years of medical research and professional experience mean that women have access to expert care before, ...

Women are more likely to experience urinary incontinence, prolapse and faecal incontinence 20 years after one vaginal delivery rather than one caesarean section, finds new research published in a thesis from Sahlgrenska Academy, ...

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New genomic analysis promises benefit in female urinary incontinence - Medical Xpress

May 27, 2017 Micrograph showing a lymph node invaded by ductal breast carcinoma, with extension of the tumour beyond the lymph node. Credit: Nephron/Wikipedia

Ashkenazi Jewish women are known to have a predisposition to the inherited breast cancers BRCA1 and BRCA2, but currently genetic testing in this group is limited to women affected by breast and ovarian cancers and those who are unaffected but have a family history of the disease.

Ms Sari Lieberman, a genetic counsellor at the Shaare Zedek Medical Centre, Jerusalem, Israel, will tell the annual conference of the European Society of Human Genetics tomorrow (Sunday) that offering open-access BRCA testing to Ashkenazi women unaffected by cancer, regardless of their family history, enables the identification of carriers who would otherwise have been missed. Carrying one of the mutations for the BRCA genes means that women affected have a 50-80% risk of developing breast cancer and a 20-50% risk for ovarian cancer.

"We knew that half of these carriers have no family history of cancer, and therefore would not have been identified had the test been offered on the current personal and family history criteria," she says. "As a genetic counsellor, it is frustrating and saddening to see the results of this policy, where patients are often only identified as BRCA carriers once they have been diagnosed with cancer."

The researchers streamlined the pre-test process so that traditional genetic counselling, which can be time-consuming and difficult, was excluded. Instead they provided written information about the BRCA genes, the genetic test, and about the implications of being a carrier.

"Current strategies for testing focus on women who are 50 and older, which is not the optimal age for effective prevention. In order to address this, we would like to continue this study and look for other approaches that could include younger women," says Ms Lieberman.participants in the study either referred themselves or were recruited by health professionals. Two-year follow up of the 1771 women tested included looking at psychosocial outcomes and health behaviours. Both groups reported a high level of satisfaction (94%) and low stress. Those who had referred themselves tended to be more knowledgeable about breast cancer issues than those who were recruited.

"Among the 25 women carriers we identified, 94% expressed satisfaction and 92% endorsed the idea of population screening. Their stress was understandably higher, but it declined over time, and their knowledge was greater than in non-carriers. All of them had breast surveillance, and three underwent risk-reducing bilateral mastectomy. Of those aged over 40, fifteen out of a total of 16 had their ovaries and Fallopian tubes removed in order to reduce risk," Ms Lieberman reports.

The researchers say that their study provides convincing evidence that open access genetic testing overcomes major barriers; not just lack of family history, but also referral and bureaucratic barriers, and that it is acceptable to those likely to be affected and their families.

"We were concerned that 'low risk' participants, with no family history, might not be able to cope with being offered BRCA testing and particularly with positive test results. We also worried that being found not to be a carrier might provide false reassurance and cause women to think they had no cancer risk and therefore avoid standard surveillance. We were pleasantly surprised on both counts," Ms Lieberman will say. In fact, mammography screening rates did not decline post-test in non-carriers, and even increased in some.

Falling prices for genetic sequencing and new techniques to avoid evaluating irrelevant gene variants will most likely make mutation screening available to wider populations in the near future. "We believe that our results are useful and highly relevant for other populations. On a personal note, I hope that this new approach means that one day I will not have to counsel someone with no family history and therefore no awareness of increased risk who says to me that she only wished she had known before," Ms Lieberman will conclude.

Chair of the ESHG conference, Professor Joris Veltman, Director of the Institute of Genetic Medicine at Newcastle University, Newcastle, United Kingdom, said: "This important study highlights the importance of population-wide genetic screening to identify women at risk of developing breast and ovarian cancer because of a genetic predisposition. The study also showed that most people cope very well with this genetic information; carriers of these mutations undertake breast cancer surveillance, whereas non-carriers are aware they can still develop breast cancer.''

Explore further: Significant increase in number of women tested for BRCA gene, but many high-risk patients still missing out

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Open-access genetic screening for hereditary breast cancer is ... - Medical Xpress

Receiving a diagnosis in 2017 at least one made at a medical center outfitted with the latest clinical gadgetry might include a scan that divides your body into a bread loaf of high-resolution digital slices. Your DNA might be fed through a gene sequencer that spits out your mortal code in a matter of hours. Even your smartphone might soon be used to uncover health problems.

Yet nearly 130 years since its inception after decades of science has mapped out our neuronal pathways a simple knob of rubber with a metal handle remains one of medicine's most essential tools. I'm referring to the cheap, portable, easy-to-use reflex hammer.

This unassuming device can be invaluable in diagnosing nervous and muscular disorders, and in determining whether a patient's pathology lies in the brain or elsewhere in the body. It can also help curtail healthcare spending by preventing unnecessary, often expensive testing. Yet like so many major medical and scientific discoveries, the reflex hammer has humble origins, in this case: the basement of a Viennese hotel.

The inn was run by the father of Leopold Auenbrugger, an 18th century doctor who is considered to be among the founders of modern medicine. To gauge how much wine was left for customers, hotel employees would thump casks with their hands and listen for a dull thud or hollow tympany. Auenbrugger realized that the same technique now called "percussing" could be applied to the human torso to, say, determine how much fluid had built up around a diseased heart. He wrote as much in his 1761 paper New invention to detect diseases hidden deep within the chest.

Relflex hammer warfare

Thought to be more accurate than the human hand, it wasn't long before percussion hammers were being designed to more precisely diagnose disease. Competition ensued.

Scottish physician Sir David Barry's model, released in the 1820s, was the first. German doctor Max A. Wintrich's came shortly after and was more popular, but was not without its critics: "[Wintrich's hammer] is inconvenient to hold, it is rigid ... it required education to use it, and even then it does not fulfill its purposes," a rival inventor commented.

As neurologist Dr. Douglas J. Lanksa wrote in a 1989 paper on the many types of reflex hammers, "Some were T-shaped or L-shaped, others resembled battle axes, tomahawks, or even magic wands." He adds that no material was off limits: wood, ebony, whale bone, brass, lead, even "velvet-covered worsted" (a type of yarn).

As percussion hammer warfare waged on, doctors and scientists were also beginning to understand the concept of reflexes, or involuntary, near-immediate responses to stimuli that occur before any sensory information reaches the brain. Muscular jerks. Blinking. Sneezing. Gagging. All of these are automatic feedback loops between sensory and motor neurons that help us navigate our environment and protect us from danger.

In 1875, German neurologists Drs. Heinrich Erb and Carl Friedrich Otto Westphal were among the first to realize that eliciting a reflex by briskly tapping the tendons of major muscles might be useful. They felt the knee jerk or "patellar-tendon" reflex in particular could help assess nerve function.

Hammers specifically suited to test reflexes were soon developed, the first of which had the now classic shape we're accustomed to a thin metal handle with a triangular rubber head. Designed by American physician John Madison Taylor in Philadelphia in 1888 and modified ever since by many the simple device was heavy enough to elicit reflexes, and had round edges to ease impact. An entry level model runs just $2.25 on Amazon.

The Krauss hammer, developed by German-American physician William Christopher Krauss, was designed around the same time. It had two rounded heads: a large one for knees and a smaller one for biceps. Dr. Ernst L.O. Trmner's did too, but it also tapered to a thin end to assess skin reflexes. There were also the Queen Square hammer, the Babinski hammer, the Buck hammer and the Berliner hammer. The Stookey hammer flaunted a camel hair brush to get a better sense of touch sensation. The list goes on.

Past to present

Daniella C. Sisniega is a third year medical student at the Boston University School of Medicine. Last month at the American Academy of Neurology's annual meeting, she presented a poster explicating the reflex hammer's past.

"I'm fascinated by how the reflex hammer started out as a percussion hammer, but was [then] adapted to elicit reflexes and has been in every neurologist's tool box ever since," she told NPR. "I also did not know that the little rubber triangle was the first reflex hammer. I feel like I owe it an apology!"

Sisniega jokes about the lackluster quality of the inexpensive Taylors.

"The little tomahawk is included in the kit everyone receives when they enter medical school," she recalls. "The rubber is cheap and very light, while the other hammers are heavier on the head so that you can use the 'swing' of the hammer as opposed to the strength of the strike to test the reflex."

While attending the AAN conference myself, I asked multiple sclerosis expert Dr. Stephen Krieger about the role of the reflex hammer in modern medical diagnosis.

"We could argue about the nuances of the hammer the Queens Square, the Tomahawk, plastic handle, metal handle, weighted, flexible or rigid but the hammer itself is always in the hand. Reflexes tell the story of neurologic diseases of all sorts," he says.

Krieger explains how disorders of the brain, like a stroke or brain tumor, result in hyperactive reflexes, while conditions affecting muscles and peripheral nerves usually result in reduced or non-existent reflexes. Reduced reflexes are, for example, a common symptom of back pain due to degenerative disk disease.

Dr. Andrew Wilner, an assistant professor of neurology at the Mayo Clinic, recounted the story of one of his patients, who had back pain, weakness and numbness of the legs. Wilner was leaning toward a diagnosis of either Guillain-Barre Syndrome (GBS) an autoimmune disorder of peripheral nerves or a myelopathy, an injury of some kind to the spinal cord. Both conditions can lead to medical emergencies, but each requires drastically different treatment.

"The reflex hammer was arguably our most important tool in narrowing down the differential diagnosis," he says. "Had we found diminished or absent deep tendon reflexes, GBS would have been more likely. As it turned out, the patient had brisk pathological knee jerks, pointing to a lesion in the brain or spinal cord."

Based on these findings, Wilner ordered an imaging study of the patient's spinal cord, where a lesion was found as opposed to pursuing the costly tests involved in a GBS diagnosis.

Wilner feels that the simple art of interviewing and examining a patient can get overshadowed by the myriad new diagnostic technologies. When it comes to clinical tools, he feels, sometimes basic is better.

"Technology is glorious," admits Krieger, "and [it] will teach us things about patients that we could never have known or imagined. But the simple, elegant, inexpensive almost plebeian swing of the reflex hammer has a cost/benefit ratio that I think no advanced technology will likely ever match."

Bret Stetka is a writer based in New York and an editorial director at Medscape. His work has appeared in Wired and Scientific American, and on The Atlantic.com. He graduated from the University of Virginia School of Medicine in 2005. He's also on Twitter: @BretStetka

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In The Age Of Digital Medicine, The Humble Reflex Hammer Hangs On - WXXI News

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Rare Gene Mutations Inspire New Heart Drugs - New York Times

En route to Dallas and just an hour out of Arkansas, Lesley Murphy got a call.

She had been tested about a week before for a genetic mutation that would make her more susceptible to breast and ovarian cancer. And, as it turned out, she had the mutation.

She didn't have either cancer, but, at 29, she found herself weighing her options: go in every six months for screenings, take medicine or undergo a preventive double mastectomy. She had some three hours to go to get to Dallas, where, coincidentally, she had an appointment with her gynecologist.

"I spent a lot of that -- probably at least an hour and a half -- telling nobody," Murphy said. "I was like listening to music and just thinking."

Studies have found that more women are choosing preventive mastectomies. Actress Angelina Jolie drew attention to the procedure in 2013 when she had a mastectomy after learning of her susceptibility to breast and ovarian cancer. The studies vary in the rates of women undergoing the surgical procedure, but most show percentages now in the low teens compared with the 2 percent to 4 percent range in the late 1990s and early 2000s.

Mastectomies can reduce breast cancer recurrence to 1 percent, said Dr. Daniela Ochoa, a breast surgical oncologist at the University of Arkansas for Medical Sciences, Little Rock.

"We take out all the breast tissue that we can see and identify grossly and anatomically with our eyeballs, but we can't say that at a teeny tiny cell level, we got every cell," she said. "So that's why we can't completely eliminate the possibility that there may be something down the road, but it's certainly the most aggressive thing that you could do to decrease your risk."

Murphy's test results came nearly three years after her mother, Martha Murphy, was diagnosed with breast cancer. An unlikely candidate, Martha Murphy had no cancers in her family history, was healthy, exercised regularly, ate well. Unable to come to terms with the diagnosis, she eventually got a genetic test -- the first in her family -- showing she, too, had the genetic mutation, called BRCA-2, predisposing her to breast and ovarian cancers.

In short order, Martha Murphy opted for a double mastectomy, a reconstruction and later an oophorectomy, the removal of the ovaries.

Her two other daughters took a genetic test later that year: one had the mutation, the other didn't. Lesley Murphy would be the tiebreaker.

Bachelor, Argentina

A Fort Smith native, Lesley Murphy graduated from the University of Georgia and worked in Atlanta and Washington, D.C. In the nation's capital, she took a hiatus from her job at a Democratic consulting firm to compete with 25 other women on ABC's show The Bachelor. She didn't find love on the show.

But after the television stint, Lesley Murphy moved to Argentina with her boyfriend at the time and worked as a marketing manager for a luxury hospitality company. She had been thinking of ways to take advantage of her following -- she has 66,284 followers on Twitter, 224,000 on Instagram and 7,652 on Facebook -- from the show, and nothing had come together, she said.

She spent her time there traveling throughout South America, documenting her travels along the way. She decided to trade in her job to be a professional travel blogger, living out of a suitcase -- albeit, a large one.

On March 10, 2014, Lesley Murphy was in her Argentina apartment when her mom and dad called, breaking the news of Martha Murphy's diagnosis.

The parents reassured their three daughters that Martha Murphy found the tumor early and all would be OK. She had consulted two doctors, both of whom had recommended surgery to remove the tumor and 30 rounds of radiation. One of the doctors, an oncologist and family friend, also had recommended a genetic test.

For Martha Murphy, finding the genetic mutation was like finding a needle in a haystack, said Dr. Kent McKelvey, the director of Adult and Cancer Genetics Services at UAMS.

"It would be like, you know, you're sitting in the cancer institute, and there's a lot of rooms in the cancer institute," he said. "You know in one of the rooms, there's the needle that you're looking for. In her mom, we looked through every room, and we found where the needle was."

Martha Murphy tested positive for the BRCA-2 gene mutation.

Days later, with two months until her oldest daughter's wedding, she had a double mastectomy at UAMS. By the May 31, 2014, wedding, she was on the dance floor.

hereditary risk

If an average woman has an 11 percent risk of breast cancer, those with BRCA-1 may have up to eight times the risk, and those with BRCA-2 have about four or five times the risk, McKelvey said.

Cancer occurs because of changes in DNA, which happen because of bad luck, environmental exposures or heredity, said McKelvey, also an associate professor in UAMS' College of Medicine. Most patients get it because of a combination of bad luck and environmental exposures, including hormone-replacement therapies for post-menopausal symptoms and lifestyle choices, such as not eating well, said Ochoa, the breast surgeon.

In Lesley Murphy's case, the major risk factor was hereditary, McKelvey said.

Genetic tests -- like those the Murphys took -- have increased over the years: just over 1,000 tests were ordered in 2012, and now the number is closer to 50,000 a year, according to the Genetic Testing Registry. Some companies are now offering genetic tests for a slew of predispositions, though McKelvey had a warning.

"You don't just order a genetic test because there are implications for you, for your future health care and for your family," he said. "People need to know what they're getting. I'd say it's important to have pre-test counseling and post-test counseling."

UAMS is the only health care facility that offers cancer genetics in the state -- hundreds of genes are predisposed to about 50 cancer syndromes, he said -- and McKelvey's office includes genetic counseling. One of his genetic counselors called Lesley Murphy on her drive to Dallas in mid-February this year, confirming the gene mutation and setting another appointment with McKelvey nearly two months later.

Hers had been an easier find because they knew what to test for and where to find it, McKelvey said.

Thinking over her options, Lesley Murphy ruled out the regular screenings -- getting a breast MRI every six months and a mammogram every six months -- almost immediately.

She figured she could have the procedure done at any time. But once she got to her gynecologist's appointment in Dallas, the doctor said, "You do not have to do this, but in my mind, what's the point of hanging on to something that's potentially very cancerous?"

Lesley Murphy thought it over for a few more days: she would be gone all of March for work, and the gynecologist was right. She called McKelvey's office to schedule an earlier appointment. Afterward, she marked April 11 as the date for her first-ever surgery.

She spent March traveling to Colorado, the United Kingdom, Finland and Canada. She worked out and did yoga.

On March 8 -- International Women's Day -- on "a horrid eight-hour layover in Germany," she shared with the world her genetic test results.

"I wanted to be a voice for other people who were going through the same thing," she said," even just thinking about it or even just starting the conversation for families or a friend to get tested."

She prepared herself mentally, and before she knew it, it was April 11.

"I remember going to sleep that night and getting pretty sentimental because it was my last night with the old me," she said, "and the next day was going to be completely different."

3-month process

The procedure takes out the breast tissue down to the pectoral muscle, said Ochoa, the breast surgeon and assistant professor in UAMS' College of Medicine. Expanders and implants go underneath the muscle, and some -- if not all -- of the skin is saved for the reconstruction, a three-month process, she said.

"So when you wake up after the first surgery, it's not your final outcome and your final volume. It's not completely flat in what we otherwise would have without a reconstruction," Ochoa said. "They gradually fill up the expander, get up to the size that you're ultimately shooting for, and then there's a second surgery where they come in, switch out the expander to the permanent implant. The permanent implant is when you pick whether you want saline or silicone, kind of what size you're shooting for."

At UAMS, surgeons perform preventive mastectomies, but more often than not, patients find out they have the BRCA gene once they have already been diagnosed with breast cancer, Ochoa said. She added that most cancer patients end up with the disease because of either bad luck or environmental factors, not for hereditary reasons.

Lesley Murphy woke up around 3 p.m. April 11, after some seven hours in surgery. She vividly remembered -- "how could I forget the feeling" -- first feeling pain when she was moved from one bed to another.

"Realization set in on what road was ahead," she said. "I remember my dad was driving me home from the hospital the day after surgery, and I was so nervous because even in the wheelchair from my hospital room to [the first floor], every little crack you would go over, you would feel it."

Her mom, who had been by her side through all the doctor appointments, slept by her side for the first couple of nights. She couldn't sit up in bed or easily get up to use the bathroom. She needed help getting dressed in the mornings. She didn't like being in the same position for too long.

But, day by day, she started to feel more normal.

By May 6, she was lying on her stomach, spending time in the sun and working out, though, she said, she may have cheated on the last one by a bit.

And on May 11 -- a month after her surgery -- she posted on social media a thank-you note to her supporters, who she said helped ease her recovery, and wrote that she hoped she has helped others in a similar situation.

"Knowledge really is power," she said in an earlier interview. "It's been a wash of emotions, but I think this is a story of empowerment."

Metro on 05/28/2017

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One genetic test transforms a life - Arkansas Online