Archive for October, 2019

An 11-year-old with OCA2, a form of albinism. Human Nature delves into whether conditions like this should be edited out of human genomes before birth.

Wonder Collaborative

Bottles of nucleic acids at Synthego, a company which synthesizes the key components of CRISPR at an industrial scale.

Wonder Collaborative

When you see something unusual, you automatically assume its interesting, says a microbiologist in Human Nature, a documentary on the science and ethics of genetic editing and engineering. Thats just how science works.

It may be how science works, but its not how filmmaking works. So, while the first chunk of Adam Bolts Human Nature will be catnip for the biochemists, the rank and file Science for Dummies people might find the DNA-coding tutorial DOA. Still, the soundtrack is charismatic and the talking heads are the fun chemistry-teacher types, not the lab-coat introverts.

Story continues below advertisement

New films in theatres and streaming this week: Joker not worth the hype and Wheres My Roy Cohn? about a hype machine

David Sanchez, a teenager with sickle-cell disease, looks at a tube containing the CRISPR gene editing machinery.

Wonder Collaborative

A science lesson on the eureka-level technology called CRISPR eventually sets up a lively discussion on the ethics of designer babies and building better humans. An interesting voice belongs to David Sanchez, an upbeat boy with sickle cell anemia who believes his condition gave him an evolved sense of patience and positivity.

I dont think Id be me, if I didnt have have sickle cell, he says. The who dares to play God? discussion is nothing new Aldous Huxleys 1932 dystopian novel Brave New World involved genetically modified citizens but now science fiction has turned into science fact.

In 1993s Jurassic Park, Jeff Goldblums prudent doctor character worried that genetic scientists were too preoccupied with could we? and not enough with should we? With Human Nature, director Bolt offers balance and nuance to the arguments.

Human Nature opens in Toronto and Victoria on Oct. 4, before expanding theatrically across Canada.

Live your best. We have a daily Life & Arts newsletter, providing you with our latest stories on health, travel, food and culture. Sign up today.

Original post:
Review: DNA-dissecting documentary Human Nature is catnip for scientists and ethicists - The Globe and Mail

When should we treat subclinical hypothyroidism? Once levothyroxine is started, it often becomes a lifelong medication that requires lifelong monitoring. Clinicians often use a thyroid-stimulating hormone (TSH) level cutoff of 10 mU/L, but one recent set of clinical practice guidelines from Europe recommend against treatment in adults with a TSH level < 20 mU/L except in women trying to become pregnant or in patients aged 30 years and younger.[1]

The American Thyroid Association and American Association of Clinical Endocrinologists maintain the view that whilemost nonpregnant patients with subclinical hypothyroidism with TSH levels >10 mU/L should be treated,health benefits for those with TSH levels ranging from 4.5 to 10 mU/Lare less clear.

I recommend considering the possibility of subclinical hypothyroidism progressing to overt hypothyroidism and thinking of the underlying pathologic conditions causing the abnormal laboratory values to decide if the hypothyroidism is a permanent or temporary condition.

Permanent pathologic causes of hypothyroidism include autoimmune thyroid disease (ie, Hashimoto disease), postsurgical hypothyroidism, and postablative hypothyroidism. In the setting of subclinical hypothyroidism, it will almost exclusively be due to autoimmune thyroid disease.

Temporary causes include pathologic conditions such as recovering subacute thyroiditis, euthyroid sick syndrome, and medication-induced hypothyroidism (eg, amiodarone and lithium), as well as nonpathologic conditions such as normal physiologic changes with aging and TSH assay interference.

Do you know how to balance the potential benefits of treatment against the harms and costs of initiating a lifelong therapy? Check your knowledge with these three cases.

A 70-year-old man comes to a primary care clinic for a routine health examination. He has a history of hypertension and type 2 diabetes, and he is taking metformin, atorvastatin, and lisinopril. He reports some mild fatigue and feeling cold in the winter but denies constipation. He has no family history of autoimmune diseases. His blood work reveals an elevated TSH level of 7.2 mU/L (normal range, 0.4-4.5 mU/L) and a normal free T4 result. Two years ago, his TSH level was 6.5 mU/L.

See more here:
Subclinical Hypothyroidism Balancing Act: Knowing When to Treat - Medscape

FOOD ALLERGIES have plagued humans for thousands of years. In the fifth century BC Hippocrates noted that although some people could eat their fill of cheese without the slightest hurtothers come off badly. The difference, he observed, lies in the constitution of the body.

Nearly all foods are capable of triggering allergic reactions in humans, and today these are more prevalent than ever, for reasons that are poorly understood. In America, as many as one in 12 children is reckoned to have one. None is more feared than the peanut. A paper by researchers at the Mayo Clinic in Minnesota found that the number of emergency-room visits by American children suffering allergic reactions to nuts, seeds and other food has tripled in ten years (see chart, left panel). Peanuts topped the list, sending nearly six in 100,000 children to hospital in 2014. More than one child in 50 is allergic to peanuts; among one-year-olds, one in 20. This figure has tripled since 2001 (see chart, right panel).

Upgrade your inbox and get our Daily Dispatch and Editor's Picks.

Makers of packaged foods cover their products with warnings about peanuts. (Many schools and airlines now ban all nuts outright.) Allergy sufferers must monitor their diets with clinical precision. The only way to prevent severe, potentially life-threatening reactions is to avoid peanuts altogether. Anaphylaxisa severe allergic reaction that can cause death, not least by asphyxiation or low blood pressureis the biggest worry. Most such reactions can be treated with epinephrine, a hormone commonly known as adrenaline, but some require a rush to hospital.

This may be about to change. In September an expert advisory panel at Americas Food and Drug Administration (FDA) voted to approve a new treatment for peanut allergies in childrenthe first of its kind. Called Palforzia, the drug seeks to treat peanut-allergy sufferers by exposing them to the very thing that could kill them. Getting the body used to the allergen, by consuming it first in tiny amounts and then in ever-larger portions, can help. Palforzia does this with pharmaceutical-grade peanut protein. A clinical trial found that after six months, more than two-thirds of allergic children could tolerate 600 milligrams of the stuff, equivalent to about two peanut kernels. The FDA is expected to make a final decision on Palforzia early next year. Until then, may contain nuts will remain a threat not a promise.

View original post here:
The prevalence of peanut allergy has trebled in 15 years - The Economist

Uterine fibroids are dense, muscular, benign tumors that grow for no known reason in the wall of the uterus. They are not cancerous; they wont become cancerous; and they dont increase risk of uterine cancer. But uterine fibroids can significantly limit the lifestyles and comfort of people who have them.

This is not a small number of individuals. While the prevalence of uterine fibroids officially known as leiomyomas, or myomas is unknown, various expert sources suggest anywhere from 20% to 80% of all women will have at least one of these masses at some point in life, if not more.

In light of the potentially staggering number of people affected, uterine fibroids dont feel like theyre discussed enough. (They certainly havent been researched enough.) So, lets dive in.

No one knows what triggers the initial growth of uterine fibroids. Experts suspect genes play a role, as fibroids tend to run in families. And they know hormones play a role, even if theyre not sure how. Fibroids grow under the effect of estrogen and progesterone, and shrink when the supply of those hormones ebbs in response to hormone suppressant medication or menopause. In fact, uterine fibroids either stop growing or shrink once a person hits menopause.

Experts also believe fibroids are influenced by other substances that prompt tissue growth such as insulin-like growth factor as well as the extracellular matrix, the material that helps cells stick together to form tissue. Extracellular matrix stores growth substances, and is known to be thicker in fibroid tissue, according to the Mayo Clinic.

Nothing else neither diet nor lifestyle has been proven to prompt fibroid growth.

Uterine fibroids come in as many varieties as the people who have them from the size of a pea to the size of a watermelon, according to UCLA Health. Fibroids also grow at different rates, even within the same person. Its impossible to predict how big a fibroid will grow. However, the bigger the fibroid(s), the more likely a person is to experience symptoms that inhibit their quality of life.

Related on The Swaddle:

Why Women Are More Prone to Urinary Tract Infections Than Men

Many people who have fibroids have no symptoms and may never know they have one or more until a gynecologist performing a routine check-up discovers the growths.

However, according to multiple sources, other people with uterine fibroids may experience the following symptoms:

These symptoms, depending on their severity, can make life very difficult and painful for people who experience them. In a 2018 survey of French women who had uterine fibroids, 64% of respondents reported fibroid symptoms had a moderate to very important effect on their quality of life.

Anyone with a uterus is at risk for uterine fibroids but some more than others. The likelihood of developing uterine fibroids increases with age, until menopause; due to hormone changes, developing new uterine fibroids after menopause, while possible, is less common.

Uterine fibroids are also more common among people with relatives who have had uterine fibroids, suggesting a genetic component. Uterine fibroids are also more common among African-American women than other ethnicities, including South Asian.

Some research suggests people whose first period came at an earlier age may be more at risk for uterine fibroids.

Finally, other studies suggest repeat pregnancy offers a protective effect, as risk of fibroids lowers across each pregnancy.

Several other lifestyle factors from obesity to use of hormonal contraception have been linked to higher or lower risk of uterine fibroids, but research in these areas has been inconclusive.

Related on The Swaddle:

Its common to develop uterine fibroids for the first time, or develop a new growth, during pregnancy, a time when hormones are fluctuating wildly. This doesnt mean there will be problems. Most women with fibroids have normal pregnancies, according to the U.S. Department of Health and Human Services Office on Womens Health.

That said, people with fibroids during pregnancy are six times more likely to require a C-section delivery. Other potential pregnancy complications related to fibroids include: restricted fetal growth, placental abruption (when the placenta detaches from the uterus before delivery, threatening the babys supply of oxygen and nutrients), and preterm birth.

Its unlikely. Uterine fibroids can affect fertility, but its a rare occurrence, and seems to be related to location of the growths than anything else. A 2016 review of research into uterine fibroids and fertility suggests submucosal fibroids fibroids that bulge or hang into the uterine cavity may affect conception; intramural fibroids (growths within the uterine wall) and subserosal fibroids (growths that bulge or hang toward the exterior of the uterus) had little-to-no relation to fertility. Ultimately, however, the evidence regarding effect of fibroids on infertility and reproductive outcomes is weak and mostly inconclusive, concluded the review.

Aside from the potential impairment to quality of life, there are few health risks or complications from fibroids. For people who experience heavy bleeding related to fibroids, anemia could be a health risk. And in the rare case that a fibroid grows very large, pressure on the bladder and urethra can cause kidney damage, according to UCLA Health.

No. Uterine fibroids have no association with the risk of any cancer.

However, while uterine fibroids are benign tumors, very rarely, a cancerous growth in the uterine wall may occur. This is called a leiomyosarcoma, a type of malignant tumor that could develop in any of the bodys muscle or fat tissues or blood vessels, not just in the uterine wall. Doctors think that these cancers do not arise from an already-existing fibroid. Having fibroids does not increase the risk of developing a cancerous fibroid, according to the U.S. Office on Womens Health.

Most people dont know they have fibroids until they visit a gynecologist for a routine physical check-up, or undergo a prenatal ultrasound. Confirmation may come via other tests, such as: a transvaginal ultrasound (sometimes with saline pumped into the uterus), an MRI, or a hysteroscopy, a surgical procedure in which a scope is inserted into the uterus.

If you have uterine fibroids, but no-to-few/light symptoms, most doctors will say no treatment is necessary.

I consider the severity of symptoms and the impact of those symptoms on a womans quality of life to be the foundation of treatment decision making, Dr. Aaron Styer, an obstetrician-gynecologist at Harvard-affiliated Massachusetts General Hospital, told Harvard Health Publishing. For example, is the woman missing work, requiring frequent hospitalizations, or missing out on normal, daily life? If so, that information will guide the treatment I recommend.

However, most doctors will also advise Watchful Waiting in best-case scenarios with no symptoms that is, monitoring fibroid growth and symptoms through regular abdominal and/or pelvic exams.

For anyone with more severe and impairing fibroid symptoms, there are a few options for fibroid management and/or removal. The only total and lasting cure for fibroids, however, is a hysterectomy. Since a hysterectomy is a major surgery that removes the uterus, it carries its own risks, and its not a first-line treatment for fibroids; many experts do not consider it a treatment at all, unless a person has already had children and/or is past childbearing age.

People with severe uterine fibroids, then, have several treatment options, per UCLA Health:

A doctor can advise on which line of treatment is most suitable and available.

See the article here:
What Are Uterine Fibroids? Very Common, Benign Reproductive Tumors - The Swaddle

This federal election season, abortion is undeniably a campaign issue, with media coverage routinely suggesting abortion rights are tenuous or up for debate.

Conservative Leader Andrew Scheer has declared that he is personally pro-life, while insisting that his cabinet will not reopen the issue. This does, however, leave the door open for individual MPs to put forward anti-abortion private member bills.

At an NDP town hall on health care in Halifax, NDP Leader Jagmeet Singh criticized abortion access as abysmal and vowed to enforce the Canada Health Act to improve it.

Green Party Leader Elizabeth May continues to argue that a woman has a right to a safe, legal abortion while candidates in the party may have conflicting views. Justin Trudeau, leader of the Liberal Party, is deeply disappointed about "backsliding on abortion rights.

As a registered nurse who provides abortion care, and as a researcher of abortion access, I worry these news stories create confusion about the reality and legality of access in Canada. Furthermore, news of anti-abortion legislation in the United States seeps north and clouds understanding of our needs and concerns.

In Canada, abortion is unrestricted by criminal law and protected by Constitutional rights to security of the person and protection from sex and gender discrimination.

It is a health service governed by the rules health professional organizations create for self-regulation. Abortion is common. There are around 100,000 abortions annually in Canada and one in three Canadian women will seek an abortion in their lifetime.

Abortion is safe for patients, and most abortion providers in Canada feel safe providing it. The vast majority of procedures take place in the first trimester. Abortion is publicly insured and in the majority of cases is free for the patient.

In 2015, Health Canada approved Mifegymiso, the medical abortion pill. It has been available since 2017 and is effective for use up to nine weeks gestation. Mifegymiso is also publicly insured by all the provinces and territories.

Mifegymiso actually comprises two medications: mifepristone and misoprostol, taken over the course of 24 hours. A week after taking Mifegymiso, patients repeat their blood work. A large decrease in the pregnancy hormone beta HCG confirms a successful pregnancy termination.

Just as some spontaneous miscarriages may need further care, in a small portion of cases, a surgical procedure may be required to complete a medical abortion. Although providers are not required to take specialized training to prescribe Mifegymiso, comprehensive training is easily available.

Lack of ultrasound availability should also not be a barrier, although ultrasound remains valuable for dating a pregnancy and to rule out ectopic pregnancy.

The greatest practical barrier to abortion in Canada is geographic: there are too few providers living in too few places. Surveys of abortion providers here have found most live in large urban centres.

The introduction of Mifegymiso could change this. All physicians and nurse practitioners could prescribe Mifegymiso (there are exceptions in Qubec). In theory, every primary care office in the country could be providing this care. This means abortion is potentially more accessible in Canada than in any other country in the world.

But for now, there is stigma and misinformation to contend with. A few persistent inequities complicate matters, making the access landscape seem unintelligible or mystical. For example, New Brunswick does not insure surgical procedures in a clinic outside of hospital. Ontario will not pay for Mifegymiso if you are living outside the province or if you are a non-Ontario resident. Qubec will not allow nurse practitioners to prescribe Mifegymiso.

Unlike in the United States, in Canada, nurse practitioners can carry out medical abortion, but not surgical.

We need to retire all mention of abortion debates and focus on achieving clarity, and universality. The Canada Health Act requires it.

Aligning irregular policies across Canada is the first obvious step. The next is simplifying the path to access by enhancing self-referral processes and reducing wait times for primary care and ultrasound. Expanding the scope of practice of nurse practitioners and midwives to provide both surgical and medical abortion could boost the number of providers.

Most important, however, is increasing factual education about abortion. The public need to know what abortion is and how to get one. Health-care students and professionals need to learn how to include abortion in their practice and how to swiftly and easily refer a patient to the care they need.

Finally, abortion needs to be understood as critical but inadequate for reproductive health. Menstrual health, consent, contraception, trans health services and reproductive mental health all need to make it onto the news, the party platforms and the agenda for our next government.

[ Youre smart and curious about the world. So are The Conversations authors and editors. You can read us daily by subscribing to our newsletter. ]

See the original post:
Abortion in Canada: The election debates, the law and the reality - The Conversation CA

Researchers at the NIH have rolled out a new vehicle for sickle cell gene therapy with higher speeds and better horsepower, potentially allowing vastly more efficient gene transfer and a much larger carrying capacity. The best part? Unlike current sickle cell gene therapy models, the NIH one doesnt have to drive in reverse.

In mice and monkeys, the new vehicle was up to 10 times more efficient and had a carrying capacity the amount of DNA it can haul of up to 6 times that of the conventional vectors currently deployed in gene therapy trials across the country. Most notably, the new vector can read the therapeutic gene sequence forward rather than reading them backward a counter-intuitive trick researchers had used to overcome long-running barriers to gene therapy but which sacrificed efficiency. The results were published open access inNature Communications.

Our new vector is an important breakthrough in the field of gene therapy for sickle cell disease, said study senior author John Tisdale, chief of the Cellular and Molecular Therapeutic Branch at the National Heart, Lung, and Blood Institute (NHLBI). Its the new kid on the block and represents a substantial improvement in our ability to produce high capacity, high-efficiency vectors for treating this devastating disorder.

Gene therapy trials for SCD have launched the past few years, bringing a handful of well-covered cases of patients responding strongly to the treatment, even as more data shows current techniques are no cure-all. One of the bigger longstanding questions, though, is how to best deliver the genetic fix.

The simple genetic underpinnings of the disease have been well-understood since the 1950s one A-T substitution in the -globin gene and researchers have accordingly targeted it since the first gene therapy research in the 1980s. But the particular problems of building a proper vector for the hemoglobin gene, in addition to the myriad other obstacles to gene therapy broadly, have impeded progress.

Click on the image to see the full-sized version

The lentiviral vector bluebird bio has used to bring its sickle cell gene therapy to trial is a workaround to an early problem unique to sickle cell therapy. RNA splicing a natural process critical to preparing the vector will remove introns that are key to expressing the genes to produce hemoglobin. Developers have been able to get around this by using a vector that reads the DNA backwards, last gene to first. Most gene therapy techniques read as you would a sentence, first word to last.

The researchers also noted their vectors were cheaper to produce.

Excerpt from:
New NIH viral vector flips the script on sickle cell disease gene therapy - Endpoints News

News Release

Thursday, October 3, 2019

New grants aimed at better understanding diseases, moving potential treatments closer to the clinic.

Of an estimated 6,500 to 7,000 known rare diseases, only a fraction maybe 5% have U.S. Food and Drug Administration-approved treatments. To increase that percentage, the National Institutes of Health has awarded approximately $31 million in grants in fiscal year 2019 to 20 teams including five new groups -- of scientists, clinicians, patients, families and patient advocates to study a wide range of rare diseases. An additional $7 million has been awarded to a separate data coordinating center to support these research efforts.

The grants, which support consortia that together form the Rare Diseases Clinical Research Network (RDCRN), are aimed at fostering collaborative research among scientists to better understand how rare diseases progress and to develop improved approaches for diagnosis and treatment. This is the fourth five-year funding cycle for the RDCRN, which is supported by multiple NIH Institutes and Centers and led by NIHs National Center for Advancing Translational Sciences (NCATS) and the NCATS Office of Rare Diseases Research.

Individually, most rare diseases affect only a few hundred to several thousand people; collectively, rare diseases affect more than 25 million Americans. Many rare diseases are life-threatening and about half of those affected are children.

Because rare diseases affect a small number of people, they can be extremely challenging to study. Scientists often lack basic information about a rare diseases symptoms and biology, and the ways a disease can affect people over time. Research funding can be scarce.

Over the years, RDCRN scientists have partnered with patients and advocates to develop new insights into the causes and progression of and potential therapies for rare diseases that were simply not receiving the attention they deserved, said NCATS Director Christopher Austin, M.D. Their pioneering work in discerning underlying clinical differences and commonalities in hundreds of rare conditions has already changed the rare disease landscape in immeasurable ways.

Established by Congress under the Rare Diseases Act in 2002, the RDCRN has included more than 350 sites in the United States and more than 50 in 22 other countries. To date, they have encompassed 237 research protocols and included more than 56,000 participants in studies ranging from immune system disorders and rare cancers to heart and lung disorders, brain development diseases and more.

Each RDCRN member is a consortium of clinical and scientific experts and patient groups who study a group of rare diseases. Each consortium must study three or more diseases, partner with rare disease patient advocacy groups, provide rare disease research training to investigators and perform natural history studies that chart the course and progression of diseases. The primary focus of the RDCRN is clinical research, and the network does not generally support clinical care outside of research activities.

A key component of the RDCRN is the Data Management and Coordinating Center (DMCC), which was awarded to the Cincinnati Childrens Hospital Medical Center. The DMCC manages shared resources and data from the RDCRN research studies. The DMCC emphasizes the standardization of data, increased data sharing and broad dissemination of research findings.

The RDCRN consortia have a rich history of accomplishment. For example, Lysosomal Disease Network scientists led crucial natural history studies and gene editing research that provided a foundation for first-in-human genome editing clinical studies for a rare metabolic disease. Primary Immune Deficiency Treatment Consortium members showed the advantage of early stem cell transplants for patients with a rare immune system disorder, severe combined immunodeficiency, and the groups work contributed to advances in gene therapy-based treatments for the disease.

New groups, new emphasis

The five new consortia are:

According to ORDR director Anne Pariser, M.D., an important focus of the latest group of awards is on clinical trial readiness.

Some of the RDCRN research groups have been working together for 10 or 15 years and have gathered important data and developed a good understanding of the diseases they study, in addition to new potential therapies. Were emphasizing the need to be prepared to conduct clinical trials, Pariser said.

Were trying to get the drug candidates closer to be ready for clinical testing and de-risk the processes that lead to a successful clinical trial, said RDCRN program officer Tiina Urv, Ph.D. To get funding to conduct trials, they need to have strong natural history studies that show how the disease progresses, ways to measure outcomes of treatments and biomarker studies that provide indicators of how a drug is working in patients.

Collaboration is key. Consortia can involve numerous partner research teams from different sites, along with rare disease patients and advocacy groups. Scientists from different institutions come together to pool patients, data, experience and resources.

Scientists cant work alone. They wouldnt have enough patients, and they wouldnt have adequate resources and information about the diseases, Urv said. Patients and families help scientists decide what is important to study, test and treat.

To read more about the five new consortia, 15 continuing consortia and the DMCC, see: https://ncats.nih.gov/rdcrn/consortia

In addition to NCATS, other NIH funding support comes from the National Institute of Allergy and Infectious Diseases, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Institute of Neurological Disorders and Stroke, the National Heart, Lung, and Blood Institute, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Institute of Diabetes and Digestive and Kidney Diseases, the National Institute of Dental and Craniofacial Research, the National Institute of Mental Health and the Office of Dietary Supplements.

About the National Center for Advancing Translational Sciences (NCATS):NCATS conducts and supports research on the science and operation of translation the process by which interventions to improve health are developed and implemented to allow more treatments to get to more patients more quickly. For more information about how NCATS is improving health through smarter science, visithttps://ncats.nih.gov.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

###

Visit link:
NIH funding bolsters rare diseases research collaborations | National Institutes of Health - National Institutes of Health

Tenaya CEO Faraz Ali(Tenaya Therapeutics)

Although heart disease remains the leading cause of death worldwide, its an area that hasnt seen as much interest or investment as other areas, and its treatments still focus on dealing with symptoms. With a multipronged approach and a fresh infusion of $92 million, Tenaya Therapeutics is trying to change that.

The heart is a complicated organ, and it can go wrong in different ways. Part of what weve learned the hard way is that prior approaches are not working, Tenaya CEO Faraz Ali told FierceBiotech.

Founded in 2016 by scientists from the Gladstone Institute in California and the University of Texas Southwestern Medical Center, Tenaya is going after the underlying causes of heart disease to head off heart failure. It raised $50 million in its series A round from The Column Group, which also pitched into its $92 million B round alongside the likes of Casdin Capital and GV.

CIOs Perspectives: Driving Clinical Trial Innovation with a Unified Platform

IT is being challenged with either trying to fix and maintain an already complex system of solution integrations, or exploring driving business impact by unifying its systems under one platform. Attend and learn about the IT benefits to shifting resources away from disparate systems and moving towards a unified platform.

RELATED: GV leads $58.5M round for Verve, a startup looking to pit gene editing against heart attacks

In an age where companies are forming themselves around one platform thats disease-agnostic and can be applied to many different areas, South San Francisco-based Tenaya is doing the opposite. It's working on three different platforms for heart disease:regenerative treatments, gene therapies and precision medicines.

The company was founded with a big, bold mission to follow the science and use the right tool for the job, Ali said. If the problem is loss of cardiomyocytes (the muscle cells that make the heart beat), such as after a heart attack, we can look for a way to generate new myocytes, create new tissue and improve the ability of the heart to contract that way.

Thats where regenerative treatments come in. Tenaya's approach delivers transcription factors that can nudge heart fibroblasts, cells that play a role in scar formation after a heart attack, to become heart muscle.

If the problem stems from geneticsif a faulty gene doesnt cause heart muscle to die, but leads to an arrhythmia or scarring, stopping it from working properlythe solution is not to create new muscle, but to get the muscle thats there to work, Ali said. And thats where gene therapy, adding a healthy copy of a defective gene, comes in.

Finally, Tenayas taking a leaf out of the book of cancer drug developers: Its become quite the norm to look for therapies that work in a particular genetic background, he said. The companys precision medicine platform uses stem cell-derived heart muscle cells as disease models to identify new targets for heart failure and screen new drugs. Its first focus is on small molecules for the treatment of dilated cardiomyopathiesa group of conditions in which an enlarged heart chamber makes it less efficient at pumpingin genetically defined patient groups.

What the funding allows us to do is advance multiple promising projects from each of the platforms out of the pure research stage and into the clinic, Ali said. Tenaya hopes to move to human studies over the next few years.

RELATED: Renovacor bags $11M to push precision medicine for rare heart disease

Though the company isnt divulging just yet which targets its going after, Ali did say some of its programs are chasing more prevalent conditions such as heart attacks while others are looking at smaller, more defined populations.

Once we get a signal of efficacy and safety and advance into later-stage clinical development, we could potentially expand into larger, more prevalent indications, he said.

Tenaya has about 45 staffers who are mostly focused on research, early development and manufacturing. If all goes to plan, the company plans to double its size by the end of 2021, adding more employees in development and manufacturing.

Two-thirds of our platforms that were working on [gene therapy and regenerative treatments] are heavily dependent on viral vectors, adeno-associated viruses Everyone learned in the last decade or so that manufacturing is the Achilles heel of the gene therapy spaceit's difficult to do and highly technical, its nothing like small molecule manufacturing, Ali said. We made the decision to invest early, and well ahead of being in the clinic, to invest in manufacturing.

Tenaya isnt just doing it because other gene therapy players have proved it necessary. If it wants to go after larger heart disease populations rather than the smaller groups affected by rare disease, its going to need a lot of viral vector to deliver its treatments.

Visit link:
Tenaya Therapeutics bags $92M to develop triple threat for heart disease - FierceBiotech

October 3, 2019

The cell and gene therapy field has exploded over the past few years. Fueled by innovations in immunotherapy, cell engineering and biomanufacturing, as well as landmark FDA approvals, a new era of medicine is upon us that is delivering new approaches to the treatment of cancer and other serious and life-threatening diseases.

This nascent industry is expanding all across the globe and Maryland, in particular, has seen an exponential boom within its cell and gene therapy cluster. Its this boom that Maryland Tech Council (MTC) CEO Marty Rosendale hopes to capitalize on to help Maryland rise above the likes of leading clusters such as Boston and the San Francisco Bay Area to be the number one destination for life science companies.

Rosendale is a competitive guy, and hes seen this same fire and competitive drive from many of the trade organizations 435 tech and life science members. In a recent Baltimore Business Journal article titled, Md. Tech Council CEO wants state biotech industry to aim higher than top 3, Rosendale shared, I think its time to look again, focus in on areas were already doing very well in, and aim for No. 1.

An important distinction is that Being the #1 place for companies to grow their business is different from being #1 in the rankings of GEN and JLL, he added.

Rosendale believes that Maryland, the anchor of the Biohealth Capital Region (BHCR), is already #1 for many companies due to the regions strong quality of life, close proximity to the National Institutes of Health and other research institutions and its deep talent pool.

He points to recent examples like Kite Pharma choosing to build its manufacturing site in Frederick County and the recent acquisition of Paragon Bioservices by Catalent as confirmation of the BHCRs ascending reputation as a global biohealth cluster. Add to this the regions growing cell and gene therapy industry, its blossoming immunotherapy ecosystem and a rapidly developing advanced biomanufacturing capability, and its easy to see the source of Rosendales confidence.

Success will bring more success. The more we can drive success it will build on itself and the message will become clearer and clearer. Its about getting that message out and incorporating it into the public discussion, he added.

Getting the message out and building on the regions success is what motivated Maryland Life Sciences (a division of MTC) to launch the upcoming Bio Innovation Conference, which is expected to draw a crowd of more than 400 life science professionals on Monday.

The Bio Innovation Conference is focused on cell and gene therapy this year and whats happening in this space and why its happening in Maryland, stated Rosendale.It is designed to explore what can we do, together, to help build this industry. We have panels on advanced biomanufacturing, capital markets and the science behind the industry and great keynotes in Dr. John Tisdale of NIH and Michelle McMurray-Heath of JLABS @ Washington DC, he added.

Were experiencing an exciting time in the region, with wave upon wave of innovations, collaborations, acquisitions, tech transfer and growth, said Rosendale. Companies from all over the country are moving here to experience all that Maryland and the region have to offer. This conference provides the perfect backdrop to showcase it all and discuss how to further propel us to the No. 1 spot among life sciences hubs.

Notable speakers in the cell and gene therapy/biomanufacturing space include:

In our recent podcast, Maryland Secretary of Commerce Kelly Shulz summed up what we need in one word: Stories. We need to tell stories. We need to tell people our success stories and why theyve been successful and why being in Maryland helped them succeed. The more we can tell these stories, the more we can get everyone talking about our region and thereby increase our recognition, Rosendale stated.

If you are attending the Bio Innovation Conference on Monday, youll hear dozens of success stories and will walk away with no doubt as to why biotech, particularly cell and gene therapy and biomanufacturing, is thriving in Maryland.

Over the past 8 years, Chris has grown BioBuzz into a respected brand that is recognized for its community building, networking events and news stories about the local biotech industry. In addition, he runs a Recruiting and Marketing Agency that helps companies attract top talent through a blended model that combines employer branding and marketing services together with a high powered recruiting solution.

Read more:
Bio Innovation Conference to Highlight Cell and Gene Therapy Industry & Why Maryland is Becoming the #1 Destination for Biotech Companies -...

Novartis(SWX: NOVN), a multinational pharmaceutical company based in Basel, Switzerland, is launching an AI innovation lab to enable its associates to use AI across the business.

The company selected Microsoft Corp. as its strategic AI and data-science partner. The new lab aims to bolster Novartis AI capabilities from research through commercialization and accelerate the discovery and development of transformative medicines for patients worldwide.

As part of the strategic collaboration, Novartis and Microsoft have committed to a multi-year research and development effort. The lab will bring AI to Novartis associates. By bringing together vast amounts of Novartis datasets with Microsofts advanced AI solutions, it will create new AI models and applications that can augment associates capabilities to take on the next wave of challenges in medicine.The lab will use AI to tackle hard computational challenges within the life sciences, starting with generative chemistry, image segmentation & analysis for smart and personalized delivery of therapies, and optimization of cell and gene therapies at scale.

Microsoft and Novartis will also collaborate to develop and apply next-generation AI platforms and processes that support future programs across these two focus areas. The overall investment will include project funding, subject-matter experts, technology, and tools.

Joint research activities will include co-working environments on Novartis Campus (Switzerland), at Novartis Global Service Center in Dublin, and at Microsoft Research Lab (UK) starting with tackling personalized therapies for macular degeneration; cell & gene therapy; and drug designBasel, and Redmond.

.

Originally posted here:
Novartis and Microsoft Team Up to Advance Medicine with AI - FinSMEs

By Rob Wright, Chief Editor, Life Science LeaderFollow Me On Twitter @RfwrightLSL

Matt Patterson

THAT WAS A TERRIFYING MOMENT,reflects Matt Patterson, cofounder, chairman, and CEO of Audentes Therapeutics, a genetic medicines company focused on the adeno-associated virus (AAV). It was the fall of 2012, and Patterson was preparing a final pitch to OrbiMed Advisors to lead a $25 million to $30 million Series A funding round for Audentes, which was then just an idea for a company. But pitching OrbiMed wasnt what was terrifying. After all, at the time Patterson was working as an entrepreneur in residence (EIR) for OrbiMed, so he knew the people in the room. However, this was his last pitch after his first few hadnt garnered much interest. You have to remember, in 2012 there werent a lot of gene therapy companies other than bluebird bio, he explains.

In his role as an EIR, Patterson had connected with a researcher at Wake Forest University working on X-linked myotubular myopathy (XLMTM), a severe neuromuscular disease with no available treatment. It took me about 72 hours to decide I wanted to start a company to develop something for these patients and their families, and I quickly came up with an initial vision for how to do a clinical trial, what endpoints to study, and what might be compelling to regulatory authorities, he notes.

But when he made that first pitch to OrbiMed, Audentes was considered extremely high risk, since in addition to being gene therapy, it was based on early-stage preclinical work and a single asset idea. To decrease that risk and make the company more compelling for his final pitch, Patterson added programs for Pompe disease and Duchenne muscular dystrophy through additional academic connections.

As an EIR, you are obligated to provide your employer [i.e., OrbiMed] the first opportunity to invest in any idea you have, though legally youre a consultant and can leave to do your own thing, he clarifies. And although he really wanted OrbiMeds support, he already had determined and communicated that if they werent interested by this point, hed seek funding elsewhere. This was the nerve-wracking part; not having OrbiMed would make raising funds much more difficult. How do you explain to other VCs why the firm you worked for didnt want to be part of the build? he asks.

Ultimately, OrbiMed provided Audentes with $1 million in seed funding and a soft commitment to support the Series A. It wasnt the robust financial infusion Patterson had hoped for, but it was enough to get started.

FROM THE CLEANROOM TO THE BOARD ROOM

Though Patterson studied science in college, he says he didnt know much about biotech until 1993. A college friend, also a biochemistry major, got a lab job at Biogen Idec, he shares. The friend encouraged Patterson to look into the same work, and eventually he landed a manufacturing tech job at Genzyme. I was a protein purification technician in a GMP facility, he recounts proudly. In other words, his days involved gowning in and then spending 6 to 8 hours working away in a lab coat, hairnet, and safety glasses. It has played an important role for me as a CEO, because I can relate well to the day-to-day challenges faced by people working in manufacturing and laboratory areas, he says.

After nearly five years at Genzyme, during which time he transitioned to working in regulatory affairs, he moved to California and joined BioMarin as employee number 15. Now in a more senior role, he had the opportunity to work with and learn from folks like Emil Kakkis, M.D., Ph.D., current president and CEO of Ultragenyx Pharmaceuticals. At BioMarin I realized rare diseases was where I wanted to work for the long term, and after leading the regulatory group though approval of our first product, they offered me the opportunity to expand into other more business-oriented roles, he says. This eventually led to Patterson joining Amicus Therapeutics in 2004 as chief business officer and employee number eight. Less than two years later, he was picked to be COO, and less than five years after that he found himself in an even bigger role. John Crowley, Amicus chairman and CEO, was considering alternative careers at the time and had decided to step down, so I became acting CEO. Being a CEO hadnt been a driving force in my early days, but rather something that became more real over time as I found myself in ever-expanding roles. However, Crowley ended up returning as Amicus CEO, and Patterson decided it was time to consider a new opportunity.

In late 2011 he joined OrbiMed as an EIR, where he was working closely with General Partner Jonathan Silverstein, who had brought Patterson to the firm. One of the benefits of being at a VC is there is an amazing number of technologies and company profiles that flow through these firms, he elaborates. It also seemed an interesting way to see a wide variety of prospects, to learn, and eventually land a CEO opportunity. During this time, Patterson became reacquainted with gene therapy. Amazed by the amount of progress being made, especially in the monogenic rare disease targets where he was so personally passionate, he began reaching out to various academic contacts he had made during his time at BioMarin and Amicus. This was how he connected with the researcher at Wake Forest working on XLMTM. The early research was extremely compelling and had all the hallmarks of past successful programs I had worked on, meaning there was significant medical need, a clear understanding of the scientific basis of the disease, compelling early data from two animal models (i.e., mouse and dog), and a motivated patient and medical community wanting to see research advance. All of these things were exciting to Patterson, and he became convinced that he could help.

In preparing for the previously mentioned pitches to OrbiMed, Patterson worked up a vision for how much he needed to raise to accomplish milestones meaningful to VC investors. This is an important part of building early-stage businesses, because when you think about financing, you have to think about how much money is needed to comfortably get to milestones that will produce additional value, as VCs look at it from the perspective of what they are going to get for their money and in what time frame, he explains. This is where working at OrbiMed helped refine Pattersons knowledge, making it easier for him to think about how to pitch an opportunity. Nonetheless, even with this wisdom and pitching to people he knew it remained a challenging conversation.

By the fall of 2012, Patterson had become even more passionate about the company, which by then even had a name Audentes Therapeutics. For those Latin nerds, Audentes means those who have courage, those who have boldness or daring, he notes. Patterson says he consulted his mother (a former Latin teacher) on the name to make sure his grammatical use of the word was accurate. This also explains how the company eventually came up with its NASDAQ ticker symbol, BOLD. The courage theme always resonated with me when I think about the patients and families within the rare disease communities, so I wanted a word that captured that.

THE BUILD ITS NEVER AS EASY AS YOU THINK

After officially founding the company in November 2012, Patterson worked out of his apartment in Manhattan for about six months before moving to San Francisco. I always knew that if I wanted to build an innovative biotech, I needed to put it where I could hire really talented people, and for me, at the time, that was either Boston or San Francisco. Having worked in both regions, Patterson also figured personal connections might prove important to getting those first few staffers on board. People say they like the idea of going to a cool, small startup, but the reality is its not for everyone, he states. Once prospects begin to kick the tires, its personal relationships and a history of working together that tend to make the difference.

But there was a lot to be done before he could begin recruiting. For example, he needed to have weekly calls with the scientists on both U.S. coasts and in France to make sure they were making progress that would keep Audentes on track from a development standpoint. He had to put sponsored-research agreements in place to help fund some of the work that needed to happen to continue to prove the company and its compounds had potential. There were other licenses that were needed to enable the technology to go forward and make the investment story more compelling, he elaborates. So, Patterson started a conversation with another company that had IP related to the vector Audentes wanted to use and convinced them not to force him to pay up front for a license. I pitched the company and my background, and thankfully they thought it credible, he shares. The two agreed on terms that deferred payment until Patterson landed the Series A funding. This, along with securing licenses for any IP developed by the academic scientists he was working with, was pivotal, because now he could comfortably say to VCs that he had key IP agreements in place. The clock was ticking, and all these things needed to happen in parallel, because the reality is a million bucks wasnt going to last very long.

Next, Patterson set about trying to improve his PowerPoint slide deck for the 2013 J.P. Morgan (JPM) healthcare conference in San Francisco. As an executive of Amicus for many years, the JPM environment wasnt new. But instead of getting a room at the Westin St. Francis [the host hotel for the annual gathering] and getting one-on-ones all day with investors, it was me lugging around my laptop and meeting with VC contacts in the lobby of the nearby Hilton with dozens of people around us screaming their own investment stories, he relates. It was an experience that helped him better understand what did and did not resonate with investors which in this case was primarily gene therapy. I heard a lot of different excuses for why people didnt want to invest in gene therapy, but essentially most of them were just saying it was too risky.

Over the next four to five months, Patterson spoke with about 25 VCs with little progress. In retrospect, given the profile of what I was trying to do, the best use of my time would have been with firms that had a history of investing in innovative science at an early stage, because at that time there was really only a handful of VCs interested in early stage, with most of them clearly being more comfortable with programs already having proof-of-concept. But where he did make progress was when he finally connected with Kush Parmar, M.D., Ph.D., at 5AM Ventures. He was a relatively new member of the 5AM team at the time, but lucky for me, he was personally interested, as he had been doing some work on gene therapy and was aware of the advancements made in academic research as well as its potential in rare diseases, Patterson grins. With Parmar as a champion, 5AM was immediately interested, which helped bring OrbiMed further along, as the two had a history of working together. And while OrbiMed, led by Silverstein, stepped up to lead the Audentes Series A, at a $30 million round, they wanted Patterson to find yet one more firm. He continued his dialogue with multiple firms, but with the credibility of OrbiMed and 5AM backing, it suddenly got easier. Once theres momentum in a deal, VCs will often follow each other, the CEO notes. In the end, we were glad to add Versant Ventures as our third, and that became the Series A, closing in July 2013, with OrbiMed investing $15 million, and 5AM and Versant splitting the other $15 million, and all three joining the Audentes board.

HOW A TOTAL FAILURE BECAME A SOURCE OF SUCCESS

Another round of financing was completed in the fall of 2014. At the time, gene therapy was gaining more acceptance as a powerful treatment option for a range of rare diseases, so Patterson started planning to expand the companys pipeline to help mitigate risk and increase the impact of their therapies. And then, the unthinkable happened. We had a total failure of the manufacturing of the lead product in late 2014, which was being done at an academic center, the executive explains.

When he started the company, Patterson felt confident he understood the manufacturing component. After all, biologics manufacturing at Genzyme and BioMarin was where he got his start. Turns out I didnt know as much as I thought, because on the surface gene therapy looks a lot like a traditional biologics manufacturing processes, but the manufacture of AAV gene therapy products was far more complex scientifically than I had initially appreciated, and that was a tough lesson to learn, he states. Further, there was no one in the world that knew how to do it at the scale necessary to run a clinical development program and eventually be commercial. Obviously, the company needed to find a new way. The initial thought was to come up with a small-scale process and work with a CMO. But heres the problem. First, there were no CMOs that knew how to make AAV gene therapy products at the time. Second, if the company did decide to go the CMO route, it would be a long-term collaboration with Audentes essentially teaching the CMO gene therapy process development and scale up. I realized this was a really important turning point in building the company, he relates. Because how to manufacture this type of product, do it well, and at large scale was something that was going to become a big issue, especially considering we were seeing more gene therapy companies being started.

Instead of lamenting over this setback, Patterson viewed it as an opportunity, akin to the biotechs of the 1980s and 90s working on innovative technologies and having to build their own internal manufacturing capabilities. Similarly, we realized this was our moment to be a leader, and we recognized the importance of owning that manufacturing capability, he shares. But there was just one problem he had to convince a board composed primarily of VCs that the money they had just invested should go toward building an internal, large-scale GMP manufacturing facility. That wasnt the plan during the fundraising round, and it wasnt a plan normally supported by investors. Still, Patterson was able to convince them of the incredible importance of having such capabilities to the eventual success of the business. It was the most important strategic decision weve ever made as a business and probably my greatest success as a CEO, he smiles.

The company found an old decommissioned GMP plant in South San Francisco that was really just a section of a warehouse that had been used for biologics manufacturing. We invested $15 million into the facility and leased the adjacent space to be able to expand capacity down the road, Patterson says. Taking such a staged approach made the move more financially feasible for the business. It also made it easier to pitch to the board of directors, who thankfully had the courage to support it, he adds. Its a tired phrase in biologics that the process is the product, but it is very much the case in gene therapy.

That same year, the company began to consider another big move. It was clear we were building a capital-hungry enterprise, which meant going public so we would have the funds needed to continue to build the business the way we knew it needed to be built, he states. After a mezzanine financing round, Patterson and his team began the laborious task of choosing banks for the IPO. It was important to have the panache of at least one larger bank, but I also wanted to make sure it was a bank that would fight for us if times got tough, he says. He also wanted a couple of smaller banks that he felt would work hard to get the deal done, as there were signs the markets would be a little more uncertain in 2016. The syndicate ended up consisting of Bank of America (BofA), Merrill Lynch, Cowen and Company, and Piper Jaffray as joint book-running managers for the offering, and Wedbush PacGrow as acting comanager.

The first quarter of 2016 turned out to be the worst quarter in biotech in many years. But the additional private financing gave Audentes the runway to be patient, and it was finally able to complete the IPO in the summer of 2016.

The banks, of course, wanted Patterson to immediately embark on a road show to announce the deal, but they were surprised to see three weeks blocked off in June on his calendar. He explained he was getting married and didnt believe cancelling his honeymoon in the interest of the IPO would be good for his well-being. Thankfully, all the banks agreed, he shares. So, it turned out to be a pretty fun and exciting six-week window, both personally and professionally.

Today, Audentes Therapeutics is a publicly traded company valued at nearly $1.8 billion.

However, there are other measures of success. For example, in September 2017, Audentes initiated a clinical trial of its lead program, AT132 for XLMTM, and positive results to date led them to announce plans to file for approval of that product in mid-2020. In the meantime, the company has expanded its pipeline of neuromuscular targeted programs, going after Pompe disease, Duchenne muscular dystrophy, and myotonic dystrophy and has grown to more than 250 employees. Throughout the last seven years, weve gone from humble beginnings to where we are today, and while Im sure we have a long road ahead of us, I am very proud of what it has become, Patterson concludes.

When Matt Patterson was at OrbiMed Advisors working as an entrepreneur in residence (EIR), he became enamored with the idea of founding a gene therapy company. He admits, though, that there were plenty of other opportunities that he could have pursued considering the amazing number of technologies and company profiles that flowed through OrbiMed. I had looked at a couple of later-stage companies, as OrbiMed wanted me to be pitching a company that was already in the clinic with some data, he says. But he had made up his mind that he was only interested in finding an opportunity where he could work as CEO. He says that if a company was in the clinic with data that looked good, and they were looking for a CEO, then something else must have been wrong. A fixer-upper wasnt interesting to me, and I didnt want to be a hatchet man whose job it was to fire most of the team and refocus the company, he explains.

He did find some interesting rare-disease assets at some larger companies that he thought were, frankly, not well-suited to advance, and so he set out to try to convince those companies that those assets would be better off in his hands. For example, when Bristol-Myers Squibb (BMS) bought Amylin Pharmaceuticals, Amylin had an orphan drug product called metreleptin for a genetic disorder. I tried to convince BMS that they should out-license that program to me. The conversation lasted about three days, meaning two interactions of, Thats interesting. Well get back to you. and then, No. In the end, he stayed committed to his original plan and ended up starting a new company, Audentes, around the X-linked myotubular myopathy (XLMTM) program he discovered at Wake Forest University.

Throughout the course of growing Audentes Therapeutics, Matt Patterson admits to taking the concept of culture very seriously, but he wasnt overly formal about defining it especially in those early years. Ive always been fascinated by the fact that, in biotechnology, one could have a brilliant scientific hypothesis and vision, but the idea goes nowhere because you failed to hire and retain a talented team, he mentions. Its critical that people enjoy their work and are inspired to put in the effort needed to be successful. I was always paying attention to our culture. We had a high rate of employee retention, and everything seemed to be going well, he elaborates. But when the company reached the 100-employee mark, he felt culture was something to be discussed a little bit more formally. We spoke about it at a leadership team meeting and attempted to engage the employee base more broadly in the issues they found important, so theyd have a voice, and we could learn.

The company also did various surveys and small group meetings that were really productive, but in the end, Patterson says neither fundamentally changed the companys overarching vision or mission as a business. All of those exercises led to the creation of three core values, although Patterson admits he was skeptical when they began creating them. Ive been at companies where they went through that exercise, and it became something like a 3x5 card that sat on the desk of every employee but was never truly embraced. He recalls starting the first meeting by saying, I dont think this is going to be a good use of time, and the last thing I want is to come up with a few catchy phrases that management thinks sound good but really dont resonate, as that seems silly. Id rather publish nothing than have that outcome. But as the program evolved and the group began getting into the brass tacks of core values and how to make them real, he became more enthusiastic. We came up with three that we felt were meaningful, could be acted upon, and made an example of on a daily basis.

The first is to be bold, find a way. This means striving to really figure out how to solve a tough challenge, whether scientific, clinical, or other. The second is to care deeply about patients, the work, and the team. The third, which is about being focused and working hard every day to achieve the companys goals, is #GSD, which stands for get stuff done, though Patterson shares that they tend to use a four-letter word in place of stuff internally. We felt those three captured who we were and who we wanted to be, he says. When someone does something outstanding to solve a challenge or to help a teammate, Audentes might recognize them with a Boldy, a symbolic award that includes a small financial component.

They implemented the three core values about 18 months ago, and ever since then they seem to come up all the time. When employees use them casually and regularly without management telling them to, thats the most important validation, he contends. And though this CEO went into meetings about culture and core beliefs as a bit of a skeptic, he says he came out a believer.

Link:
Building A 1 Billion Gene Therapy Company In 6 Years - Life Science Leader Magazine

GAITHERSBURG, Md.--(BUSINESS WIRE)--The Maryland Tech Council (MTC) is preparing for one of its most highly-attended conferences of the year, the Bio Innovation Conference, presented by Maryland Life Sciences (a division of MTC). The Bio Innovation Conference provides a forum for professionals from industry, academia and government to discuss trends and insights into Marylands growing life sciences industry, while showcasing the states and regions innovations and successes in the life sciences industry. The all-day event attracts more than 400+ top life science professionals and takes place on October 7, 2019 at the Bethesda North Marriott Hotel & Conference Center.

Were experiencing an exciting time in the region, with wave upon wave of innovations, collaborations, acquisitions, tech transfer and growth, said MTC CEO Martin Rosendale. Companies from all over the country are moving here to experience all that Maryland and the region have to offer. This conference provides the perfect backdrop to showcase it all and discuss how to further propel us to the No. 1 spot among life sciences hubs.

This years keynote speakers include, John Tisdale, MD, Chief, Cellular and Molecular Therapeutics Branch National Heart, Lung, and Blood Institute, National Institutes of Health, and Michelle McMurry-Heath, MD, PhD, Vice President, External Innovation, Global Leader for Regulatory Science and Executive Director of Scientific Partnerships for JLABS @ Washington, DC. Maryland Secretary of Commerce Kelly M. Schulz will give opening remarks, and Montgomery County Executive Marc Elrich will help close out the conference.

The conference will also highlight the cell and gene therapy and biomanufacturing revolution taking place in Maryland and throughout the region. Notable speakers in the cell and gene therapy/biomanufacturing space include:

Were pleased that the Maryland Tech Council selected Montgomery County as the location for this important conference, said County Executive Elrich. The life sciences sector is thriving here, so its fitting that the conference is taking place in our county. My administration is focused on creating more opportunities for new and emerging businesses to grow and locate here.

This year for the first time, attendees will be able to simplify the process of searching for, identifying, and meeting with potential partners and business development executives with the BIO One-on-One Partnering system.

Maryland is continuing to make major strides in cell and gene therapy, as well as biomanufacturing, said Secretary Schulz. This conference offers a great opportunity to bring together our best and brightest industry leaders to take a closer look at how the industry is evolving and how Maryland is leading the way.

For more information or to register, visit: marylandlifesciences.com/conference/about/.

About Maryland Life Sciences

Maryland Life Sciences (MDLS), a division of the Maryland Tech Council, is a regional association for the life sciences community. We support our member companies who are driving innovation through advocacy, education, workforce development, cost savings programs and connecting entrepreneurial minds. MDLS represents biotechnology, clinical and research data, therapeutic, genetic, medical device, pharmaceutical and service companies that support Marylands thriving industry. The valuable resources we provide to our members help them reach their full potential making Maryland a global leader in the life science industry. For more information: mdtechcouncil.com/communities/life-sciences/.

About Maryland Tech Council

The Maryland Tech Council (MTC) is a collaborative community that is actively engaged in building strong technology and life science industries by supporting the efforts of our individual members. We are the largest technology and life sciences trade association in the state of Maryland, and we provide value by giving members a forum to learn, share, and connect. MTC brings the regions community together into a single, united organization that empowers our members to achieve their business goals through advocacy, networking and education. The vision for the Maryland Tech Council is to propel Maryland to become the number one innovation economy for life sciences and technology in the country. For more information: mdtechcouncil.com.

Read the original:
Maryland Life Sciences Bio Innovation Conference Highlights Region's Growth with Emphasis on Cell and Gene Therapy, Biomanufacturing - Business Wire

In a significant setback, Vivek Ramaswamy-backed Arbutus Biopharma is ceasing the development of its experimental hepatitis B therapy, after two healthy volunteers contracted serious liver infection in an early-stage trial.

The therapy, AB-506, is an oral hepatitis B virus (HBV) capsid inhibitor designed to thwart viral reproduction, versus existing standard therapies primarily nucleoside analogues that are designed to diminish viral replication.

The two subjects are experiencing resolution of their acute hepatitis. We will continue to follow them and the other study participants said Arbutus chief development officer Gaston Picchio said in a statement on Thursday afternoon.

The companys shares $ABUS sank about 30% to $1 in Friday premarket trading.

The Phase Ia/Ib trial was testing AB-506 in healthy subjects as well as patients with chronic HBV. and HBV-DNA positive subjects with chronic HBV infection. The tranche of healthy volunteers were given AB-506 doses ranging from 30-1000 mg while chronic HBV patients were given different doses of AB-506, with or without a nucleoside analogue.

In July, Arbutus provided a positive update on the trial, reporting that no serious adverse events or clinically significant safety findings were observed in the 33 healthy subjects, adding that ALT levels and other liver function tests were normal throughout the ten days of dosing. Although there were no serious side-effects observed in the group of 24 chronic hep B patients, there were four cases of ALT flares.

On Thursday, the Canadian company provided an update after 28 days of dosing and said the full dataset would be unveiled at a scientific conference later this year.

Terminating the AB-506 program also means Arbutus $ABUS will not initiate a combination study of AB-506 and its experimental RNAi therapy, AB-729, in the second half of 2020, it added.

AB-506 is Arbutus latest casualty. Last October in an announcement unveiling the appointment of Picchio the company said its experimental HBV RNA de-stabilizer, AB-452, will be delayed entering Phase I studies, after some long-term toxicity issues in animal studies emerged.

(T)his latest setback, raises questions about the companys small molecule design capabilities, Chardan analysts wrote in a note on Friday.

Arbutus, formerly known as Tekmira, pivoted from its Ebola effort to hep B after the acquisition of OnCore from a group of Pharmasset vets in 2015. In 2017, crushed by the failure of his Alzheimers bet, Roivants Vivek Ramaswamy who was already an investor invested a further $116.4 million at a premium rate to acquire preferred shares in Arbutus. Last year, Ramaswamy and Arbutus joined forces to spawn Genevant Sciences to develop a slate of RNA-based therapeutics backed by Arbutus proprietary lipid nanoparticle and ligand conjugate delivery technologies.

Arbutus Lipid Nanoparticle technology, which enables RNAi drugs to be encapsulated in tiny particles made of lipids that travel through the bloodstream to target tissues, was used by Alnylam $ALNY to develop its pioneering RNAi therapy, Onpattro, securing a stream of royalty revenue for Arbutus.

See more here:
Two acute cases of liver disease in healthy subjects kill Arbutus' hep B program - Endpoints News

From Matthew Knowles revealing a male breast cancer and BRCA2 diagnosis to a sarcoma survivor donating thousands of toys in lieu of birthday presents, heres what is making headlines in the cancer space this week.

In an interview with Good Morning America, the music executive described how he first started to see blood on his T-shirt, then his wife noticed it on the bedsheet. Thats when he went to the doctor and a mammogram, ultrasound and biopsy confirmed it was stage 1a breast cancer.

He underwent surgery in July and also had genetic testing done to see if he carried the BRCA gene mutation, which he tested positive for, raising his risk of not only breast cancer, but also melanoma, prostate and pancreatic cancer. I am going to get the second breast removed in January, because I want to do anything I can to reduce the risk, Knowles said during the interview. We use the words cancer-free, but medically theres no such thing as cancer-free. Theres always a risk. My risk of a recurrence of breast cancer is less than 5%, and the removal of the other breast reduces it down to about 2%.

The first call he made was to his kids and former wife. Each child has a 50/50 chance of inheriting a BRCA mutation from their parent. Knowles said he is speaking out to inspire other men to be open about male breast cancer.

A tradition at Boston Childrens Hospital took center stage this week as the hospital turned 150. The hospital looked back on a former patient who was treated for neuroblastoma at 2 years old. When Avery McAvoy was discharged, the nurses and caregivers held a bubble parade something they do for all pediatric patients who are released.

Avery is now 6 years old and started first grade this year. She is still cancer-free.

People around the world are encouraged to Lip Sync for Lymphoma. The aunt of Kevin Siddall, who died after a six-month battle with non-Hodgkin lymphoma at 14 years old, came up with the idea to raise money for research.

Those who wish to participate can record themselves lip synching their favorite song, then upload it to a website. They can then ask friends and family to vote for them, which costs one dollar. Participants can also challenge others to join in the fun.

The top 10 performers will battle it out on stage on Oct. 17.

A 5-year-old cancer survivor forgoes birthday presents to donate toys to other kids at the childrens hospital where he was treated.

Weston Newswanger received a rhabdomyosarcoma diagnosis in November 2016 and his mom said that toys became a big part of keeping him happy during treatment.

When she asked him what he wanted for his birthday he said, I dont want anything. I dont need anything, reported CNN.

Family and friends made his wish of giving dinosaurs and Play-Doh a reality by collecting more than 3,000 items. Newswanger and his mom delivered the toys on Tuesday to PennState Childrens Hospital.

Original post:
Friday Frontline: Cancer Updates, Research and Education on October 4, 2019 - Curetoday.com

The global biologics market 2017 was estimated to be USD xx Million. It is anticipated to increase to a value of USD xx Million with a CAGR of xx% over the forecast period. Continuous activities in research and development, investment in biologics and occurrence of chronic diseases are the factors that are playing a major role in the growth of biologics market. As per WHO, chronic diseases will account for approximately 80% of death by 2020 across the world. Constant development in gene & cellular therapy is catalyzing the market because of its therapeutic outcome and high efficiency. CAR-T-Cell are therapies recently accepted by FDA for the indications of oncology.

Request for sample copy of Biologics Market reportat:https://www.adroitmarketresearch.com/contacts/request-sample/165

Drugs are very complicated and need maintenance and controlled conditions for production and development processes. Huge finances are required to regulate the procedures of quality control initially. Biologics are prone to heat, light and require positive atmosphere which is not available worldwide. Strict rules and investment with restricted access to patient for biologics, particularly in emerging countries will affect the growth of global biologics market.

Biopharmaceuticals is getting popular over chemically synthesized molecules which are projected to increase the generation of revenue considerably. Moreover, by using the biologics many metabolic disorders can be treated to increase the demand of biologics market. Developed bioengineering technologies as well for the production of biopharmaceutical is estimated to fuel the pharmaceutical industry. With the advancements in automation, process of assortment can be done with the help of high throughput screening (HTS) system for the selection of duplicates.

Read more details of the report at:https://www.adroitmarketresearch.com/industry-reports/biologics-market

Biologics market trends are initiative by government to support biologic drugs that allow funding and investment in research and development eventually increasing the quality of biologic drugs. This will positively upsurge the demand for biologics market growth. Success rate of biologic drugs is increasing thus increasing the demand for manufacturing biologics amongst the big pharmaceutical companies. For example, Bristol-Myers Squibb capitalized about $800 Million in Irish large-scale biologics facility and Novartis AG capitalized about $750 Million in biologics facility in Singapore estimating to complete the production by the end of 2019. Accepting innovative therapies and increase in chronic diseases are the factors that are fueling the growth of biologics market.

Global biologics market is segmented on the basis of application, source, type and region. Based on application, biologics market is divided into cancer, anemia, diabetes and many more. By source, market is divided into animal, human and microorganism. Based on type, biologics market is splited into blood products, gene therapy, vaccines, proteins, monoclonal antibodies and much more.

Topographically, regions involved in accelerating the biologics market share are Asia Pacific, Europe, U.S, South America, North America and Middle East & Africa. U.S biologics market is dominating the market in North America with huge investment and research and development. Growth in the concerns and awareness regarding oncology and its treatment will help to surge the global biologics market in North America. Asia Pacific is propelled to expand rapidly due to less strict rules for the clinical trials of drugs, developing awareness of biologics for the treatment of chronic diseases and manufacturing of biologics in the developing countries.

Key Segments in the Global Biologics Market are-

By Application market is segmented into:

By Source market is segmented into:

By Type market is segmented into:

By Regions market is segmented into:

What to expect from the Global Biologics Market report?

Predictions of future made for this market during the forecast period.

Information on the current technologies, trends, devices, procedures, and products in the industry.

Detailed analysis of the market segmentation, depending on the types, devices, and products.

Government regulations and economic factors affecting the growth of the market.

An insight into the leading manufacturers.

Regional demographics of the market.

Who should buy this report?

Venture capitalists, Investors, financial institutions, Analysts, Government organizations, regulatory authorities, policymakers ,researchers, strategy managers, and academic institutions looking for insights into the market to determine future strategies

Enquire more details of the report at:https://www.adroitmarketresearch.com/researchreport/purchase/165

About Us:

Adroit Market Research is an India-based business analytics and consulting company incorporated in 2018. Our target audience is a wide range of corporations, manufacturing companies, product/technology development institutions and industry associations that require understanding of a markets size, key trends, participants and future outlook of an industry. We intend to become our clients knowledge partner and provide them with valuable market insights to help create opportunities that increase their revenues. We follow a code Explore, Learn and Transform. At our core, we are curious people who love to identify and understand industry patterns, create an insightful study around our findings and churn out money-making roadmaps.

Read the rest here:
Global Biologics Market 2019 Research Analysis, Current Trends, Regional Demand, Production Growth, Detailed Overview and Forecast Outlook by 2025 -...

Share on PinterestConducting multigene testing on breast cancer patients when they are diagnosed is cost effective and could potentially save the lives of thousands. Getty Images

Conducting multigene testing on breast cancer patients when they are diagnosed is cost effective and could potentially save the lives of thousands, according to a new study.

But many patients are not offered the testing based on existing criteria, which means people carrying cancer genes are not given the opportunity to find out if they are carriers.

Multigene testing includes an evaluation for the BRCA1, BRCA2 and PALB2 genes. The genes have been linked to inherited cases of cancer. Mutations to the genes can put men and women at a higher risk of breast cancers as well as other cancers.

Currently, testing is restricted based on a patients family history or clinical criteria. The American Society of Breast Surgeons already recommends genetic testing for all patients. The National Comprehensive Cancer Network (NCCN) criteria does not.

Dr. Ranjit Manchanda, a lead researcher and professor at Queen Mary University of London, said that about 50 percent of BRCA carriers do not meet the existing criteria to qualify for genetic testing. As a result, about half of them are at risk but dont know it. Additionally, only 20 to 30 percent of patients who meet the criteria are referred for and access BRCA testing, he added.

The study examining cost-effectiveness of testing was tested on U.S. and U.K models. The testing would be cost effective in between 98 and 99 percent of simulations in the U.K. health system and 64 to 68 percent in the U.S. health system. JAMA Oncology published the report, which included data from about 11,800 women in the United States, United Kingdom, and Australia.

We feel that all breast cancer patients should be offered the option of multigene testing, Manchanda told Healthline. This approach will save many more lives and prevent many more breast and ovarian cancers than the current clinical approach. I do not see the benefit of testing being restricted.

A study out earlier this year in the Journal of Clinical Oncology assessed data from 959 breast cancer patients and found that 49.95 percent met NCCN criteria. The authors recommended complete genetic testing.

Another study in the same publication published this year was based on data from more than 83,000 women on cancer registries in California and Georgia. About one-quarter of them with breast cancer and about one-third with ovarian cancer had genetic testing in 2013 and 2014.

Several organizations recommend genetic testing for ovarian cancer, but there are fewer that do for breast cancer patients, the authors reported.

Dr. Peter D. Beitsch, a surgical oncologist from Texas who was part of the first supporting study mentioned, told Healthline he agrees that breast cancer patients need genetic testing upon diagnosis. The new research is in line with his findings.

Testing involves a saliva or blood sample, which is easy either way, Beitsch said.

Generally, most patients can pay up front for testing, which costs about $250, Beitsch said.

Insurance does not cover genetic testing for all breast cancer patients at the moment, Beitsch noted. This is because they still follow NCCN guidelines, which have shown to be poor at determining mutation carriers.

Depending on the testing company, testing for cancer genes with expanded panels can cover anywhere from 30 to more than 80 genes. It can identify other organs that may be at risk for cancer, such as pancreatic cancer or melanoma. It can also pinpoint others in a family who may harbor mutations.

They can then be watched more closely or even undergo prophylactic surgery to prevent them from getting a cancer, Beitsch explained.

After unilateral breast cancer, mutation carriers can choose to have a mastectomy on the affected breast, or preventative mastectomy of the second breast to reduce their risk for cancer in that breast, Manchanda explained.

Additionally they can opt for a surgical ovarian cancer intervention. People who have the genes may also be eligible for novel drugs or other drug therapies through clinical trials.

A major advantage of genetic testing is enabling testing relatives of breast cancer mutation carriers, to identify unaffected relatives carrying mutations who can benefit from early diagnosis and cancer prevention, Manchanda said.

Testing everyone instead of being restricted by family history will identify many more mutation carriers and their family members who can benefit from precision prevention. A large proportion of these cancers are preventable in known unaffected mutations carriers, he added.

Some people dont undergo testing because they dont want to know if they have mutations, while others who do have testing may experience guilt if they dont have the mutations that impact family members, Beitsch noted.

The problem with genetic testing is not over testing, it is under testing, Beitsch said. Theyve found less than 10 percent of people with BRCA1 and BRCA2 variants, and much less than that for the other 30+ genes linked to cancer.

However with increased testing, we must provide education and tools for testing and interpretation to physicians to ensure management is optimized, lives are saved, and genetic mismanagement is minimized, he added.

With test costs declining and hopefully more people given the opportunity to undergo testing, more people can take preventative action to minimize their cancer risk through prevention or early diagnosis options, Manchanda said.

Go here to read the rest:
Here's Why All Women With Breast Cancer Should Get Genetic Testing - Healthline

Patients at risk of developing cancer can now get faster, more accurate diagnoses, thanks to new genetic and blood tests.

A new diagnostic tool called +RNAinsight allows clinicians for the first time to use paired genetic testing to detect the risk for hereditary cancers, possibly affecting thousands of patients.The biomedical firm Ambry Genetics Corp. manufactures the test, which launched Tuesday.

DNA testing is the standard for hereditary cancer screening, but it excludes large portions of hereditary material, thereby missing variants that increase risks for cancer. But adding RNA to DNA testing can provide more evidence about whether genes have the variants, according to Ambry Genetics.

This is the first time we are offering paired DNA and RNA testing, said Emily Dalton, director of the genetic specialist team at Ambry Genetics. Its going to allow us to identify more patients who are at risk for hereditary cancers and actually provide more accurate results to inform patient care as well.

Researchers also have developed a single blood test that can detect numerous cancers with a degree of accuracy that exceeds 99%.

The test, made by the health care company GRAIL, uses next-generation sequencing technology to search for tiny chemical tags (methylation) in DNA that affect whether genes are active or inactive. It detected more than 20 cancers including breast, colorectal, esophageal, gallbladder, lung and leukemia.

When the test was applied to nearly 3,600 blood samples, it successfully picked up a cancer signal from cancer patient samples and pinpointed the tissue where the cancer began.

Geoffrey Oxnard, thoracic oncologist at the Dana-Farber Cancer Institute and one of the studys researchers, said the blood test uses the cancerous genes to better find cancers.

If we know what a cancerous DNA looks like, then we can go hunting for it, Dr. Oxnard said. We can hunt for all the cancers and then once we found a signal, we can clarify if that is a colon cancer signal or a head and neck signal. And thats amazing.

While some cancers are related to a patients inherited genetics, Dr. Oxnard said cancerous genes more often are completely haywire in different ways.

This year, an estimated 1,762,450 new cancer cases will be diagnosed in the United States and 606,880 people will die from the disease, according to the National Cancer Institute.

The most common types of cancer, according to 2018 figures, are breast, lung and bronchus, prostate, colon and rectum, melanoma, bladder, non-Hodgkins lymphoma, kidney and renal pelvis, endometrial, leukemia, pancreatic, thyroid and liver.

This year, almost 700,000 people in the U.S. are expected to seek testing to determine whether they have genetic mutations linked to increased risks of cancers. Of those, an estimated 16,000 people could be affected by the new paired genetic test, said Ambry Genetics.

Kara Milliron, genetic counselor at the University of Michigans comprehensive cancer center, said results from genetic testing for cancer screening could come back in three ways: positive, negative or variant of unknown or uncertain significance.

She said the paired genetic testing provides a better look and interpretation of these variants of unknown significance. The University of Michigans cancer center was one of more than 40 sites in a pilot study that used the +RNAinsight tests on patients.

Cancer is a significant public health problem. It causes tremendous morbidity and mortality every year, Ms. Milliron said. Any improvements to genetic testing where we can get better answers for patients I think is really, really important. And it does have a significant impact on our ability to take care of patients in the best way.

Updated from earlier to clarify the testing does not diagnose cancer but rather helps patients understand their risks of developing a hereditary cancer.

Sign up for Daily Newsletters

More:
Paired genetic tests give patients better idea of their risk for cancer - Washington Times

One of 35 people charged in connection with a $2.1 billion health care fraud scheme owns a genetic testing laboratory in Lower Nazareth Township.

Dozens of telemedicine companies and cancer genetic testing labs allegedly billed Medicare for tests patients didnt need, according to a news release from federal authorities. The release calls the scheme one of the largest health care fraud schemes ever charged.

It involved the payment of illegal kickbacks and bribes by genetic testing laboratories in exchange for the referral of Medicare beneficiaries by medical professionals working with fraudulent telemedicine companies for expensive cancer genetic tests that were medically unnecessary, the release says. The news release was issued Friday, Sept. 27.

Often, the test results were not provided to the beneficiaries or were worthless to their doctors, the release says.

Some of the defendants allegedly controlled a telemarketing network that lured hundreds of thousands of elderly and disabled patients. They allegedly paid doctors to prescribe testing without any patient interaction or with only a brief phone conversation with patients they had never met or seen, the release says.

Among the defendants is Minal Patel, 40 of Atlanta, Georgia. He owns LabSolutions, which has offices in Georgia and at 3729 Easton Nazareth Highway in Lower Nazareth Township, records say. Hes charged with 13 federal crimes including health care fraud and conspiracy, records say. He was charged Tuesday, Sept. 24, and the indictment was unsealed Wednesday, Sept. 25, court records say.

Patel solicited medically unnecessary tests from Medicare beneficiaries through telemarketing and health fairs, records say.

LabSolutions allegedly billed Medicare for more than $494 million. In addition, the government seized approximately $30 million in bank accounts from Patel, a Ferrari and a Range Rover, the news release says.

Patels attorneys, Robyn Lynn Sztyndor of Coral Gables, Florida, and Steven H. Sadow, of Atlanta, didnt return messages seeking comment.

Rudy Miller may be reached at rmiller@lehighvalleylive.com. Follow him on Twitter @RudyMillerLV. Find Easton area news on Facebook.

See the article here:
Lower Nazareth lab linked to 1 of the largest health care fraud schemes ever charged - lehighvalleylive.com

What is genetic testing?

Maybe youve heard about genetic testing for diseases and wondered: What does that mean? Should I do it? What do the results mean? Heres what you need to know.

For example, you may be familiar with women who are at risk for or have breast cancer getting tested for genes called BRCA1 and BRCA2. It may sound like they are getting tested to see if they have BRCA1 and BRCA2 but everyone has these genes, says Monique Lubaton, MGC, CGC, cancer genetic counselor for LifeBridge Health. The genetic test actually determines if the BRCA1 and BRCA2 genes have mutations. In other words, if the test is positive, it means that mutations are present.

However, only about 5-10% of all cancer is due to an inherited gene mutation, so these mutations are rare.

A mutation is when a gene changes. Genetic mutations can be hereditary or happen randomly.

Non-hereditary genetic mutations can by caused by things like:

Lets go back to BRCA1 and BRCA2. A genetic test determines if one (or, rarely, both) of these genes have mutations. If these genes are damaged, a person is up to 80% more likely to get breast cancer. Why? As a tumor suppression gene, the BRCA genes job is to stop cells from growing and dividing rapidly. Therefore, if it has a mutation, cells can develop into cancerous tumors. Theres no foot on the brake, says Lubaton.

So what does it mean for you if you test positive? Genetic test results, such as the discovery of mutations on BRCA1 and BRCA2, are complex and many factors must be considered. A genetic counselor can interpret the results, explain them to you and discuss your options. For example, if you need treatment, genetic information can help make your treatment more effective. There are even new medicines that target certain types of mutations.

Lubaton says that there are a few red flags to keep in mind:

Additionally, genetic testing can help people who have cancer learn why they developed it and if they are at risk for other types. This information is also important for their family members, who may be at risk themselves. However, testing may not be helpful for people who are not considered high risk.

You can meet with a genetic counselor to discuss your personal and family history. If you are a candidate for testing (determined by guidelines and insurance), then your blood will be sent to a reputable clinical genetic laboratory. Once those results are back, the genetic counselor will discuss the results with you.

Over-the-counter tests have become popular, but Lubaton says that people should be cautious about their use.

For example, one over-the-counter test only looks for only 3 out of 1,000 known mutations in BRCA1 and BRCA2, which are common in the Ashkenazi Jewish population. These tests also only do one type of imprecise analysis (called genotyping), but a clinical lab test does two types of analysis that are much more accurate.

When the results of an over-the-counter genetic test come in, people might misunderstand the results, and come to incorrect conclusions, both positive and negative. It is important to know that even if you test negative for a gene mutation, it doesnt mean that you wont get cancer, says Lubaton. Also, because science is evolving, knowledge about genes and treatments is changing and a person might base their own conclusions on information that is not current. Direct-to-consumer testing is not comprehensive if you want to learn accurate risks about disease, says Lubaton.

Genetic testing is as complicated as genes themselves. If you think you should be tested or learn more about it, you should speak with a genetic counselor.

If you are concerned about your personal or family history of cancer, a genetic counselor at the Alvin & Lois Lapidus Cancer Institute can review this history, explain hereditary cancer syndromes in greater detail and discuss the benefits and limitations of genetic testing. For more information, call 410-601-5085. Referrals can be faxed to 410-601-4601.

Follow this link:
What You Need To Know About Genetic Testing - CBS Baltimore

KANSAS CITY, Mo. Its a quick test that can unlock the secrets of the past, present, and potential risks in the future.

But is the DNA test dilemma worth the risk?

According to MIT, more people took consumer DNA tests in 2017 than ever before. Most of those results were mailed to homes in the United States. If you crunch the numbers, about 25% of American adults have taken one of the popular at-home tests.

Massive price drops in 2017 led to a surge in popularity with several companies running Black Friday promotions offering test results for under $60, as well as other deals.

The market for the kits continued to grow because its a simple, easy test that can answer all kinds of questions we have about ourselves and provide answers to questions we dont even realize we have.

But, before you dive into your familys DNA makeup, there are some things you need to consider before buying a kit.

The Risks

There are many risks, that pop up when people start taking about these at-home kits. Ironically, the biggest risks dont have anything to do with health issues or previously unknown family members the tests may identify. Here are four of the biggest risks to consider.

Protect Yourself

Obviously, the easiest way to protect your DNA is to never submit it.

If youve decided that you want to go ahead with a test, you may want to consider taking to your doctor about it instead of grabbing a kit from the store. If a doctor takes your DNA sample, its protected by HIPPA, just like other medical procedures.

HIPPA determines how medical information can be shared. HIPPA doesnt cover consumer, or at-home, DNA kits. It actually falls under the authority of the Federal Trade Commission, which has different policies and protections.

While genetic testing can provide all kinds of information, how much do you know about the company youve chosen to do your DNA test?

If youre thinking about it

Here are four things to consider to help protect yourself in the future.

What if Ive already taken a test?

Youve taken the test and have your results. Now youre concerned about having those results floating around out there.

Dont panic, but keep in mind that the U.S Government has quality control guidelines. Because of those guidelines, companies are required to keep DNA information. That means if youve submitted your DNA, its not possible to completely delete the information.

However, all hope is not lost. This is the closest you can get to purging your information from four of the largest DNA Kit sites:

Ancestry

1. Sign into your Ancestry account2. Click on the DNA tab3. Choose Your DNA Results Summary4. Click Settings5. Choose Delete Test Results and enter your password again to confirm you want to delete the detailsIf you complete this process, you will permanently lose your ability to view any AncestryDNA data related to your search. It will also prevent you from showing up in any family finder searches.

23andMe

1. Sign into your 23andMe account2. Click on the account settings page3. Find the 23andMe Data4. Click on Delete Your DataIf you complete this process, you will have the option to download your data before its deleted.

MyHeritage

1. Log into your account2. Click your name in the upper-right hand corner3. Click Account Settings4. Click Delete Account at the bottom of the page

Living DNA

Youll need to contact the company at the help desk. Be prepared to provide your unique LD reference number and why youd like to delete your data.

Its also possible to revoke the permission if youve already allowed a company to share your data. Keep in mind it will be nearly impossible to delete your data from third parties that already have it on file.

Originally posted here:
Beware of these four risks when you share your DNA with a genetic testing company - WDAF FOX4 Kansas City

The child was critically ill. The treating team at Children's National Hospital in Washington, DC, was stumped and worried that time was running out. Every test was coming back negative.

Genetics was called in to look for chromosomal mutations that might suggest the source of the problems. The geneticist recommended whole-exome sequencing, which tells a story based not only on all of the child's genes, but on two additional sources as well: the mother's and the father's genes.

They found something they weren't looking for. The father, the worried man in the waiting room who raised this child, wasn't the biological father. In genomics it's called an "incidental finding," and it raises huge ethical questions: Do you reveal this to the parents? Only to the mother? Or, if the results don't affect the child's care, do you even tell anyone?

In this case, the team called on the hospital's ethics committee for help.

Monisha Samanta Kisling, MS

"What made it really complicated here is that the father was actually the primary caregiver and was really, really involved with the child," explains Monisha Samanta Kisling, MS, a genetic counselor who has worked at Children's National for 7 years. Plus, the father was the legal parent and responsible for the family as a provider, including securing the child's health insurance. Disclosing this information could have a lasting, lifelong effect.

"He has dedicated his life to and does everything for the child. You're really at risk of causing potential serious conflict for this family, and potentially for this kid who really needs that support system," Kisling says.

If you think this scenario is an outlier, you're mistaken. Various studies have estimated rates of false paternity at between 1% and 10%.[1]

The field of genomics calls misattributed paternity or in some cases, simply paternity a "secondary" or incidental finding. Perhaps, but it's certainly difficult to ignore.

"In a lot of cases, it's just very hard to hide that information with the report that you have," Kisling explains, because the variants that a geneticist discovers in the child's DNA don't match up at all with the father's genes. "If the child didn't inherit any of the variance from the father, that would throw in some question marks, right?"

Paternity might be incidental, but it's clearly significant. This information whether a father is truly a child's biological father can change families in an instant.

Whether to disclose poses a dilemma that can feel fraught. Telling a man that he's not the father of his child can have devastating consequences: He might leave the family. The standard in pediatrics is to practice medicine "in the best interest of the child"[2]; first and foremost is the child's well-being. That means keeping the focus on the child and their future.

Still, because there are really no data about how these shocking disclosures affect families, doctors are truly in the dark about how to handle these tricky scenarios.

"It's hard to make these decisions because we may not know the families that well. We don't necessarily know what's the right decision for them," Kisling says. She believes clinics should approach each family with fresh eyes, because every couple is different.

"I think withholding information can feel paternalistic," Kisling says. "We don't want to say, 'Hey, I don't think you can handle this information.' That's not necessarily our judgment call to make. Overall, it's just a really, really tough decision."

Here is the original post:
'You're Not the Father': A Moral Dilemma in Genetic Testing - Medscape

New guidelines for genetic testing should help more women and their relatives take steps to improve their odds against cancer that might run in the family.

All women who have had cancer of the breast, ovary, Fallopian tubes or peritoneum tissue in the walls of the abdomen should be offered a screening tool to determine their risk of mutation, new U.S. Preventive Services Task Force guidelines say.

The new recommendation removes a wording that limited testing to those diagnosed at younger ages.

Thats a pretty big thing, genetic counselor Kimberly Knapp said at Joyce Murtha Breast Care Center in Windber.

In the past, screening for breast cancer susceptibility genes BRCA1 and BRCA2 was recommended for women who developed breast or ovarian cancer before age 50 and others who had certain types of cancer before age 60.

Now, we dont have to age discriminate, Knapp said.

Anyone with a significant family history of breast or ovarian cancer should also consider genetic screening, which begins with a thorough review of family cancer history with a trained counselor, Knapp said.

Those women can contact breast cancer programs at several of the regions hospitals to find out more about their risk.

Genetic counselors will be able to help determine if they are eligible for genetic testing for the BRCA1 or BRCA2 gene mutations.

BRCA is shorthand for breast cancer, but the mutations are also associated with an increased risk of other cancers.

Genetic testing at Joyce Murtha Breast Care Center at Chan Soon-Shiong Medical Center at Windber tests for the BRCA gene, Knapp said.

Because researchers continually find more genetic links, Windber offers a genetic screening for a panel of almost 50 different mutations.

The new guidelines expand the pool of patients who are eligible for insurance coverage of the test, she said.

At Indiana Regional Medical Center, breast surgeon and genetic counselor Dr. Dan Clark works with families to screen for 24 gene mutations.

Screening is not just a yes or no. You get a report with four pages of results, he said at the hospital.

The report may recommend additional screenings for hereditary cancers, including breast, ovarian and colon cancer.

We know there are a lot of other cancers associated with genetics, he said.

But most cancer is not hereditary, he warned.

The American Cancer Society estimates between 5% and 10% of all cancers come from gene mutations passed on through families.

Clark fears heightened attention on genetic risk may cause women with breast cancer in their families to think they are not at risk, noting most breast cancer patients have no family history of the disease.

Randy Griffith is a multimedia reporter for The Tribune-Democrat. He can be reached at 532-5057. Follow him on Twitter@PhotoGriffer57.

Read the original post:
Breast cancer awareness | Genetic testing expanded to help those with disease in their families - Clinton Herald

San Francisco, CA (UroToday.com) -- Ambry Genetics(Ambry), a leading clinical genetic testing company, announced the launch of+RNAinsight, a major advancement in genetic testing. +RNAinsight enables clinicians for the first time ever to conduct both DNA and RNA genetic testing at the same time. Substantially more often than DNA testing alone, this paired testing identifies whether someone has a genetic mutation that either increases their risk for developing cancer or that may have contributed to their existing cancer. This is the first genetic testing advancement in over a decade to significantly increase the diagnostic yield (meaning the number of patients identified with a specific hereditary risk for cancer) in genes likeBRCA1andBRCA2. Ambry is the first and only lab to offer paired RNA and DNA genetic testing for hereditary cancer.

DNA testing alone can produce inconclusive, unhelpful results on whether a genetic variant (an error in our DNA) increases the risk for cancer. Moreover, standard DNA testing for hereditary cancer excludes large portions of DNA, thereby missing variants that cause increased risks for cancer. Adding RNA to DNA testing overcomes these limitations for a significant number of patients as RNA provides considerably more evidence than DNA alone about whether the genes in our DNA have variants that cause increased risks for cancer. Clinicians can then use this information with patients and their relatives to try to prevent cancer from developing or to detect cancer early.

We developed paired RNA and DNA testing to provide more accurate and conclusive results that patients and doctors can act on, said Aaron Elliott, PhD, CEO of Ambry Genetics. With +RNAinsight, we not only identify mutations that DNA testing alone would miss, we also provide answers for patients who have been dealing with inconclusive results for years.

This year, almost 700,000 people in the United States are expected to turn to clinical labs for clinical-grade genetic testing to learn whether they have genetic mutations linked with increased risks of cancer. By pairing RNA and DNA testing, it is estimated +RNAinsight may help more than 16,000 of these individuals get the genetic information they need that they might not get from DNA testing alone.

In fact, +RNAinsight will actually help more than these 16,000 individuals because this number does not include their relatives who can then be tested to learn of their own increased risks. Nor does it include patients previously tested who had received inconclusive results from DNA testing alone and will now receive reclassification reports based on +RNAinsight.

Paired RNA and DNA genetic testing is a remarkable leap forward.My patients arefinally getting answers I was unable to provide before, said Huma Rana, MD, Clinical Director of Cancer Genetics and Prevention at Dana Farber Cancer Institute. In our short time using this technology, we have made meaningful changes to patient care.

Additionally, the data illustrates +RNAinsights ability to clarify results that were previously deemed inconclusive as a result of DNA testing alone. +RNAinsight was able to decrease the number of inconclusive results across the included cancer risk genes by approximately five percent relative to DNA testing alone.

+RNAinsight builds on an earlier breakthrough in RNA genetic testing that Ambry led. For three years, Ambry has offered RNA testing retrospectively looking at RNA after DNA testing was complete. While helpful, retrospective RNA testing has limitations that +RNAinsight does not, such as not being able to identify mutations that the earlier DNA testing failed to find and patients who are lost to follow-up.

+RNAinsight is now available through doctors and genetic counselors around the country. For more information on paired RNA and DNA testing, please go towww.ambrygen.com/RNAinsight. For more information on risk factors for hereditary cancer, please visit cancer.govsfact sheeton hereditary cancer and genetic testing.

Source: Cancer, Ambry. 2019. "Ambry Genetics Makes Scientific Breakthrough And Launches Paired RNA And DNA Testing For Hereditary Cancer".Ambrygen.Com. https://www.ambrygen.com/about/press-release/118/ambry-genetics-makes-scientific-breakthrough-and-launches-paired-rna-and-dna-testing-for-hereditary-cancer.

Follow this link:
Ambry Genetics Makes Scientific Breakthrough and Launches Paired RNA and DNA Testing for Hereditary Cancer - UroToday

If you think not having a family history of cancer means you have less chance of getting it, think again.

During four years of genetic testing more than 4,100 people with the Information is Power Initiative at HudsonAlpha Institute for Biotechnology, the results revealed less than three percent of those tested received a positive result.

More than 50 percent of people who received a positive result, which means they have an increased risk of cancer, did not have a strong history of cancer in their family, said Dr. Sara Cooper, a faculty investigator at HudsonAlpha who leads the Information is Power Initiative and runs a lab that conducts cancer research. For example, for the vast majority of breast cancer there is no genetic reason that we know about.

A sedentary lifestyle, being obese and diabetes are indicators for cancer, she added.

The Information is Power Initiative is a collaboration between HudsonAlpha and Kailos Genetics, which is located on the HudsonAlpha campus. The program offers free and reduced cost genetic testing, available by ordering an online kit that includes instructions on how to do a simple DNA sample collection at home, before returning the sample by mail. Kits can be ordered at http://www.hudsonalpha.org/information-is-power

Cooper said as of Aug. 1, 2019, more than 4,100 people had participated in the initiative and took the Information is Power test.

Without this initiative, these individuals would likely not have been offered this kind of test at their physicians office, she said.

Nancy Archuleta, a retired Huntsville businesswoman, said what HudsonAlpha does with its genetic testing related to cancer is something near and dear to her heart because her daughter is a breast cancer warrior.

Any person in todays environment is aware of breast cancer, Archuleta said. You see it on TV, you see the pink ribbons, you see it on license plates and in all actuality, you probably know someone who has had breast cancer. You can reach out into any room and find somebody who has been touched by it.

Awareness is one thing, she said.

When the bulls-eye is on you, thats when you really become aware of how little you know about it, Archuleta shared. You really become aware of your insignificance almost. Its so very important to know everything you can know about it and that is why I will tell you what HudsonAlpha is doing is taking you to the next level of awareness.

Archuleta said her daughter, who lives in Dallas, is fighting her second battle of two unrelated types of breast cancer.

Most people dont know that 75% of breast cancer is spontaneous, not genetic, she said.

Archuleta has gone through paralyzing fear that she had to overcome at times to be an advocate for her daughter as well as take better care of herself.

We used to make our contributions, Archuleta said. But when you personally realize that your dollars make a difference at a place like HudsonAlpha, where theyre really, really taking the issue to heart, then all of a sudden youre putting your money where your mouth is.

The Information is Power Initiative has identified more than 70 genetic changes associated with increased risk of cancer among the tested individuals, representing changes in 17 different genes, she said.

Participant ages have ranged from 19-96 and have been from Madison, Jackson, Limestone, Marshall and Morgan counties in North Alabama. Cooper said 51 percent of tests done during the past four years were free. The other 49 percent were offered at a discounted rate.

The discounted and free rates are made possible by a sponsorship from the Russel Hill Cancer Foundation and donations from the community. HudsonAlpha will host the annual Tie the Ribbons fundraiser Nov. 7, which benefits breast and ovarian cancer programs, including Information is Power.

For more information about the Tie the Ribbons event, contact Elizabeth Herrin at elizabeth.herrin@hudsonalpha.org or go to http://www.hudsonalpha.org/foundation/tie-the-ribbons-event.

View original post here:
Behind the genes of breast cancer | Special Reports - Theredstonerocket

The importance of getting an annual mammogram is one of the key messages of Breast Cancer Awareness Month. For some women, genetic testing can also play a big role in detecting breast cancer and saving lives.

Some genetic mutations can greatly increase a womans chances of getting breast cancer.

Mutations of BRCA1 and BRCA2 genes can be passed down through a mother or a father. A BRCA mutation is the single, biggest risk factor for breast cancer.

A woman who carries one of these gene mutations has the following chances for breast cancer:

80% chance of getting breast cancer in her lifetime

50% risk of getting breast cancer by age 50

64% chance of getting breast cancer twice in a lifetime.

Genetic testing provides another layer in our efforts to detect breast cancer early so treatment can begin earlier, said Aimee Griffin, director of The Breast Center at Floyd and director of imaging services at Floyd Medical Center.

Genetics can play such a big role in the possible development of breast cancer, and its important for woman to understand there are steps they can take to cut down on that risk, Griffin continued.

Genetic breast cancer risks include:

You are a female who was diagnosed with breast cancer before the age of 50.

You are a male who was diagnosed with breast cancer at any age.

Your mother, sister, daughter, grandmother or aunt had breast cancer before age 50 or ovarian cancer at any age.

A close male relative was diagnosed with breast cancer.

Women who know they carry the mutated BRCA1 or BRCA2 gene can take steps to manage their cancer risks, including: more frequent, detailed cancer screenings and exams; taking certain drugs to prevent, delay or reduce the risks of cancer; and elective, radical surgery.

While BRCA 1 and BRCA 2 are the most widely known genetic alterations that impact a womans risk for breast and ovarian cancer, there are many other types of genetic alterations that can put a woman or a man at increased risk for breast cancer. The nurse practitioners at The Breast Center at Floyd are all graduates of City of Hopes Clinical Cancer Genetics program, and are specially trained in genetic evaluation, counseling, and testing and can help you and your family understand your cancer risk.

For more information about counseling or genetic testing, contact The Breast Center at Floyd at 706.509.6840.

See the original post:
Genetic testing adds another layer to breast cancer prevention - Northwest Georgia News