Category Archives: Gene Medicine

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