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Univ. Spin-Off Designing Heart Disease Screening App

Heart monitor app

Heart monitor app (Cardiio Inc.)

30 March 2017. A spin-off enterprise from Massachusetts Institute of Technology is creating a system using a smartphone camera to detect heart rhythm problems that lead to a stroke. The system is designed for a mobile app being developed by Cardiio Inc., a 5 year-old company in Cambridge, Massachusetts.

Measuring heart rhythms is important for people with atrial fibrillation, an irregular heartbeat or arrhythmia that can lead to stroke or heart failure, and affects some 2.7 million Americans, according to American Heart Association. With atrial fibrillation, heart muscle contractions in the upper chambers beat irregularly instead of in a regular rhythm, which can cause blood to pool and lead to blood clots, including those that move to the brain and cause a stroke.

While some people with atrial fibrillation report symptoms, such as a racing heartbeat or light-headedness, many people with the condition experience no symptoms, making it difficult to detect. Some 15 to 20 percent of stroke victims have this kind of irregular heartbeat, and left untreated, people with atrial fibrillation are 4 to 5 times more likely to suffer a stroke.

The new Cardiio system, called Cardiio Rhythm, aims to detect early signs of irregular heartbeat with a smartphone and provide a warning to the phone’s user to get the condition checked out before a stroke occurs. The system uses a process adapted from photoplethysmography, where a camera scans an individual’s face with red and infrared beams, and then captures reflected light from hemoglobin in the blood, making it possible to estimate blood volume.

The Cardiio system, however, refines that process to use ambient light, making it easier for a smartphone camera to capture reflected light from the skin. The app also allows the user to put a finger on the camera to measure blood volume from pulse patterns. Algorithms developed by Cardiio employ machine learning to analyze blood volumes and patterns to detect and distinguish irregular from normal heart rhythms. Cardiio Rhythm is still an investigational device for research and not yet approved for diagnostics.

A paper presented in November 2016 at a meeting of American Heart Association reported on a test of Cardiio Rhythm with 85 hospital patients, and compared those results to conventional electrocardiograms or ECGs. The Cardiio app used 3 facial scans of 20 seconds each to calculate heart rate regularity. The findings show the Cardiio app successfully detected irregular from normal heartbeats in the sample with high sensitivity (93%) and specificity (95%) compared to ECG readings.

Cardiio Inc. is the creation of Ming-Zher Poh, a postdoctoral researcher in MIT’s Media Lab, when he and others founded the enterprise in 2012. The company took shape at Rock Health, a digital health start-up incubator in San Francisco, where Cardiio developed its current lead product, a fitness app for Apple iPhones using a similar technology for monitoring heart rate. Cardiio since relocated to Cambridge, where it partners with Massachusetts General Hospital and two hospitals in Hong Kong.

Poh sees Cardiio Rhythm as meeting a need for medical screening that fills that gap between fitness or wellness apps and full-scale diagnostic systems in clinics. “There needs to be a transition,” says Poh in an MIT statement, “from fitness-oriented devices to more medical applications in order to improve health outcomes. We see ourselves providing the tools to make that transition possible.”

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FDA Approves Multiple Sclerosis Therapy

Nerve cells illustration


29 March 2017. The Food and Drug Administration approved a synthetic targeted antibody to treat multiple sclerosis in people with relapsing or steadily worsening forms of the disease. The therapy approved by FDA for marketing in the U.S. is ocrelizumab, marketed as Ocrevus and developed by Genentech in South San Francisco, California, a division of pharmaceutical company Roche.

Multiple sclerosis is an autoimmune condition where the immune system attacks the central nervous system and damages myelin, the fatty, protective substance around nerve fibers, as well as nerve cells themselves. Scar tissue from the damaged myelin, known as sclerosis, distorts the nerve signals sent to and from the brain and spinal cord, causing symptoms ranging from mild numbness to loss of vision or paralysis.

FDA approved ocrelizumab for people whose multiple sclerosis relapses, as well as primary progressive multiple sclerosis, a form of the disorder marked by steady deterioration in neurological functioning, without periods of remission or relapse. A 2010 study estimates 15 percent of Americans with multiple sclerosis have the primary progressive form of the disease.

Ocrelizumab is a synthetic humanized antibody designed specifically to address immune system cells known as CD20-positive B cells. B cells are white blood cells produced in the bone marrow that produce antibodies. CD20-positive B cells are considered contributors to damage in myelin and nerve cells associated with multiple sclerosis. Ocrelizumab binds to proteins emitted on the surface of CD20-positive B cells, but not on other immune system cells, and thus can avoid damaging other immune functions.

FDA based its approval in part on three late-stage clinical trials evaluating ocrelizumab against other treatments or a placebo. Two of the trials tested ocrelizumab against another biologic therapy, interferon beta-1a, among a total of 1,656 participants with relapsing multiple sclerosis. In these studies, ocrelizumab reduced the number of relapses and brain lesions revealed by MRI scans, as well as slowed the deterioration leading to disability, compared to interferon beta-1a, over 2 years

A separate clinical trial tested ocrelizumab against a placebo among 732 individuals with primary progressive multiple sclerosis, tracking participants for at least 120 weeks. Results show fewer participants receiving ocrelizumab in that period experienced declining indicators of disability and brain lesions from MRI scans, compared to placebo recipients.

Ocrelizumab is given as an intravenous infusion by a clinician. Most adverse reactions in the trials were related to infusions, but in the primary progressive multiple sclerosis trial, more recipients of ocrelizumab experienced upper respiratory tract and oral herpes infections than placebo recipients. Genentech says rates of serious adverse effects in the trials were similar for ocrelizumab participants as those in the comparison groups.

FDA used several of its special programs to accelerate the review process for ocrelizumab. The experimental therapy received a breakthrough designation, fast-track status, and priority review during its evaluation by the agency.

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Climate-Resistant Oilseed Crop Plant Developed

Mustard plant

Brassica juncea, or mustard plant (Dalgial, Wikimedia Commons)

29 March 2017. An academic-industry team developed a new crop plant variety that produces cooking oil like rapeseed or canola, but in a warmer and dryer climate. Researchers from University of Copenhagen in Denmark and Bayer CropScience describe their discovery in 13 March issue of the journal Nature Biotechnology.

The team from the DynaMo Center — short for Center of Excellence for Dynamic Molecular Interactions — at University of Copenhagen and Bayer CropScience are seeking hardier plant varieties that can withstand anticipated warmer and dryer conditions brought on by climate change. Among the crops threatened by climate change is rapeseed, an oil-producing plant known in North America as canola. Oil from this plant is used widely in cooking, and according to data from the UN’s Food and Agriculture Organization cited by the authors, is the third-largest oil producing plant in the world after soybean and palm.

Rapeseed or canola is grown mainly in northern Europe, and parts of Canada, and the U.S., where it thrives in a cool and damp climate. With warmer and dryer conditions expected in these regions, a crop plant is needed that can withstand these conditions and still produce the oil desired by consumers. The team led by plant scientists Barbara Ann Halkier, director of the DynaMo Center, and Peter Denolf of Bayer CropScience’s lab in Zwijnaarde, Belgium, used genetic engineering techniques to develop an alternative crop from related mustard plants.

The researchers chose mustard plants because they produce seed oil high in mono- and polyunsaturated fatty acids, but can grow under more arid conditions than rapeseed, and are also more resistant to disease. A problem with mustard plants, however, is their high concentrations of glucosinolates, toxic compounds that the plants use for defense, and also emit a bitter taste. Attempts to develop commercially-viable mustard plants without glucosinolates, say the authors, so far ended in failure.

To design a low-glucosinolate mustard plant, the team focused on genes that transport the glucosinolates from the plant’s maternal tissue into the seeds. Researchers first genetically engineered Arabidopsis plants, a widely-studied model organism in biology with similar properties as Brassica or oilseed varieties, such as mustard and rapeseed, to produce mutations that stopped the transport of glucosinolate to the seeds.

While this first step with Arabidopsis showed the feasibility of genetic engineering to stop glucosinolate production, the oilseed genomes are more complex, requiring more complex engineering and cloning. Working with two mustard plants, Brassica rapa and Brassica juncea, the researchers were able to develop varieties that reduced glucosinolates in seeds by 60 to 70 percent. Tests with the seeds show the low-glucosinolate characteristics were maintained over several generations. And field tests of engineered Brassica juncea plants at three Bayer CropScience sites in Belgium show the plants can be grown commercially.

“The result,” says Halkier in a university statement,  “is an oilseed crop with improved agronomic traits that is tolerant to global warming. The new crop will enable cultivation in areas that today is not suitable for oilseed crops, such as the Western part of Canada, parts of Eastern Europe, Australia, and India.”

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Univ. of California to Gain European Crispr-Cas9 Patent

Cas9 protein editing a gene

Artist depiction of Cas9 protein editing a gene (Jennifer Doudna, University of California – Berkeley)

28 March 2017. A patent dispute among top research universities took another turn, as the European Patent Office announced its intention to grant a patent to University of California for its genome editing techniques. The decision favoring the genome editing technology developed at UC’s Berkeley campus comes weeks after the U.S. Patent and Trademark Office backed competing claims by the Broad Institute, a medical research center at Harvard University and MIT.

The dispute between University of California that owns the UC-Berkeley patents and Broad Institute centers on techniques for editing genomes known as Crispr, short for clustered regularly interspaced short palindromic repeats. Crispr is based on bacterial defense mechanisms that use RNA to identify and monitor precise locations in DNA. The actual editing of genomes with Crispr in most cases uses an enzyme known as Crispr-associated protein 9 or Cas9. RNA molecules guide the editing enzymes to specific genes needing repair, making it possible to address root causes of many diseases.

University of California based its claims on the work of UC-Berkeley molecular and cell biologist Jennifer Doudna and Emmanuelle Charpentier, now director of the Max Planck Institute for Infection Biology in Berlin. At the time of their patent filing, Charpentier was on the faculty at University of Vienna in Austria that shares in the patent. The California patent claims the rights to Crispr using Cas9 editing enzymes applied to cells from all organisms, from bacteria and other single-cell organisms to more complex plants and animals, where cells have a nucleus containing the DNA.

Broad Institute claims, however, that the approach by Doudna and Charpentier largely involves simpler single-cell organisms and is not transferable to cells from more complex plants and animals. In February 2017, the U.S. Patent Trademark Office found the distinction significant, and ruled in favor of Broad Institute in a case where University of California argued that Broad Institute interfered with, or took unfair advantage of, the Doudna and Charpentier technology. By deciding against University of California, USPTO cleared the way for Broad Institute and its licensees to apply Crispr to genome-editing treatments for human and animal health.

At the time of the USPTO decision, as reported in Science & Enterprise, University of California said it would pursue a separate patent for Crispr with Cas9 enzymes for all types of cells. The new decision by the European Patent Office appears to validate that strategy, with the EPO’s intention to grant the university a patent for Crispr using single-guided, or one strand of RNA, for Cas9 enzyme editing. UC-Berkeley says the patent protects its technology in 40 European countries, which can now be licensed for human and animal health, as well as agricultural applications.

The Broad Institute’s approach to Crispr is not going away, however, on either side of the Atlantic. In February, EPO announced its intention to grant a patent for Crispr to the Broad Institute, but using an editing enzyme known as Cpf1, derived from bacteria that its discoverers say is smaller that Cas9 and thus enters cells easier. And like the UC-Berkeley techniques, Cpf1 needs only a single strand of RNA to guide it to the DNA for editing.

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Diet Enhancing Gut Microbes Shown to Slow Type 1 Diabetes

Eliana Mariño and Charles MacKay

Eliana Mariño, left, and Charles MacKay (Monash University)

28 March 2017. A diet that produces certain short-chain fatty acids in the gut is shown in lab mice to support the immune system and slow the onset of type 1 diabetes. An international team led by researchers at Monash University in Clayton, Australia published its findings in the 27 March issue of the journal Nature Immunology (paid subscription required).

Type 1 diabetes is an autoimmune disorder where the body does not produce insulin, and is diagnosed primarily in children or young adults. Autoimmune disorders are conditions where the immune system is tricked into attacking healthy cells and tissue as if they were foreign invaders, in this case, insulin-producing beta cells in the pancreas. About 5 percent of people with diabetes have this type of the disease.

Caring for type 1 diabetes requires constant management of the condition with tracking blood glucose levels and food intake, even for children. Advances in technology, such as closed-loop glucose measurement and and insulin-pump devices, make the management task easier. The team led by Monash immunology researcher and first author Eliana Mariño, however, is seeking ways of slowing or preventing development of type 1 diabetes itself through harnessing beneficial gut microbes, bacteria in the colon.

The Monash team — with associates from Australia, Germany, and Brazil — investigated the role of certain short-chain fatty acids to influence the immune system and protect against the auto-reactive immune system cells from attacking insulin-producing beta cells in the pancreas. Short-chain fatty acids are produced by supportive gut bacteria from the fermentation of fiber that survives the digestive system long enough to enter the colon.

Mariño and colleagues looked particularly at resistant starches that, as the name implies, resist digestion and are not broken down or absorbed in the stomach or small intestine, allowing them to be metabolized by bacteria in the gut into short-chain fatty acids. The team focused on two specific fatty acids from resistant starches, acetate and butyrate.

The researchers tested effects of acetate and butyrate on the immune systems in lab mice induced with the underlying genetic conditions supporting type 1 diabetes. Blood and stool samples show these diabetes-susceptible mice have lower concentrations of these fatty acids than comparable mice without the conditions supporting diabetes. When the susceptible mice were given diets rich in resistant starches to yield larger quantities of acetate and butyrate, however, the mice were protected against developing diabetes.

In addition, the team discovered acetate and butyrate worked differently in the immune systems of mice. Acetate was found to reduce the production of auto-reactive T-cells, white blood cells in the immune system erroneously programmed to attack healthy cells, in this case beta cells in the pancreas. Butyrate, on the other hand, was shown to help produce more functioning regulatory T-cells that help keep the auto-reactive T-cells under control.

Both fatty acids also help protect overall gut health and reduce enzymes that support development of diabetes. “Our research found that feeding mice that spontaneously develop type 1 autoimmune diabetes,” says Mariño in a Monash statement, “diets that release high levels of natural metabolites such as acetate or butyrate, improved the integrity of the gut lining, reduced pro-inflammatory factors, and promoted immune tolerance.”

“The findings illustrate the dawn of a new era in treating human disease with medicinal foods,” adds molecular biologist and senior author Charles MacKay. “The key next steps will be to understand, through proper clinical studies, how these results might be translated to patients at-risk or living with type 1 diabetes to prevent or delay progression.”

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Trials, Registry Planned for Wound Care Device

MRSA bacteria

MRSA bacteria (National Institute of Allergy and Infectious Diseases)

27 March 2017. A company making products for healing wounds is studying the ways one of its dressings is used in the field, to better understand the product’s role in wound care. In this project, Organogenesis Inc. in Canton, Massachusetts is beginning two clinical studies and a patient registry to learn these details.

Organogenesis, a spin-off enterprise from MIT in the 1980s, develops bioactive wound care products that the company says are designed as much for regenerative medicine as emergency care. The product reviewed in this project is PuraPly AM, containing purified collagen derived from pigs, combined with an antimicrobial chemical. PuraPly is applied as a dressing to treat chronic wounds, such as venous and diabetic skin ulcers, as well as acute surgical and trauma wounds. PuraPly is cleared as a medical device by FDA, based on preclinical studies and case-study reports, but still lacking systematic clinical evidence.

Collagen is the most abundant protein in the body, found in bones and soft tissue, such skin and tendons. While the body makes collagen on its own, for wound care it provides a natural scaffold for tissue repair and regeneration. The antimicrobial ingredient in PuraPly is polyhexamethylene biguanide, or PHMB, added as a coating to the collagen to prevent formation of bacterial biofilms and further infections.

PHMB affects bacterial cells differently from mammalian cells, where the chemical enters bacterial cells and binds with its DNA, while with mammalian tissue, the chemical is kept out of the cells’ nuclei where DNA resides. As a result, says Organogenesis, PHMB does not have toxic effects on human cells as some silver-based topical antimicrobials, nor is it susceptible to an acquired resistance. The company cites lab tests where PuraPly reduced concentrations of a number of bacterial samples, including methicillin-resistant Staphylococcus aureus, or MRSA, a difficult  “superbug” resistant to many antibiotics, and associated with infections contracted in health care facilities.

The new clinical trials conducted by Organogenesis aim to better understand the ways health care facilities are using PuraPly and their healing outcomes. The first trial at the Wound Healing Center at Winthrop-University Hospital in Mineola, New York is recruiting 100 adults with wounds treatable with PuraPly. The second trial, at Northwell Health in Lake Success, New York, is recruiting 40 participants, also with acute and chronic wounds treatable with PuraPly.

Participants in both trials will be tracked for 12 weeks to determine the extent of wound healing that occurs, with measurements of new tissue generation and wound closure, as well as bacterial formation in the wounds while they heal. Harold Brem, who heads Winthrop-University’s wound healing center says in an Organogenesis statement, “Up until now, we’ve seen encouraging case studies showing individual patient results following treatment with PuraPly AM,” but noting that the “prospective research program will provide wound care clinicians with important clinical data regarding how PuraPly AM is utilized in various wound types and the associated clinical outcomes.”

In addition, Organogenesis is starting a registry of 300 patients treated with PuraPly to track their experiences with the dressings. The initiative, known as Real-World Effectiveness Study of PuraPly AM On Wounds, or Respond Registry, will gather information on participants’ wound healing progress, as well as their experiences with pain, impact on quality of life, and any effects on economic outcomes.

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T-Cell Therapy Trial Begins for Autoimmune Diseases

Nektar Therapeutics lab

Nektar Therapeutics lab in San Francisco (Nektar Therapeutics)

27 March 2017. A biotechnology company began testing on humans an experimental drug to increase healthy T-cells in the immune system for people with autoimmune disorders. The early-stage study is testing the safety, dosage levels, and chemical activity in the body of a biologic drug code-named NKTR-358 by its developer, Nektar Therapeutics, in San Francisco.

Autoimmune diseases are disorders that arise from an erroneous immune response aimed at healthy cells and tissues in the body, instead of invading pathogens from outside. Examples of autoimmune disorders are type 1 diabetes, rheumatoid arthritis, lupus, psoriasis, Crohn’s disease, and multiple sclerosis. American Autoimmune Related Diseases Association cites data from National Institutes of Health estimating 23.5 million people in the U.S. suffer from autoimmune diseases, but the organization believes the actual number may be more than twice as high.

According to Nektar, most current treatments for autoimmune disorders are designed to suppress the immune system overall, which can have serious undesired side effects. The company instead is developing NKTR-358 to balance the overabundance of effector T-cells, white blood cells in the immune system, programmed to immediately react to perceived invaders, with more regulatory T-cells to help control over-reactions to immune-system threats.

Nektar develops treatments that combine polymer chemistry with active biological agents to control their targeting, distribution, and activity in the body, in what the company calls polymer drug conjugates. NKTR-358 aims to promote production of regulatory T-cells to correct the imbalance with auto-reactive effector T-cells, and restore the body’s self-tolerance mechanisms in people with autoimmune diseases. The company says its preclinical studies show NKTR-358 can suppress skin inflammation caused by immune-system reactions, and reduce indicators of lupus progression in lab mice.

The company is designing NKTR-358 as a self-administered injection given once or twice a month. The clinical trial is recruiting 50 healthy individuals to test the safety of NKTR-358 and its chemical activity in the body. The trial is also testing various dosage levels, with the goal of determining safe doses for future studies of NKTR-358 among people with autoimmune diseases.

The first trial of NKTR-358 in people with autoimmune diseases is expected to take place in the second half of 2017, a study of the drug among individuals with systemic lupus erythematosus, the full name for lupus. In this case, the autoimmune disease leads to inflammation in the joints, skin, and other organs including heart, lungs, and kidneys. Lupus is more common in women than men, mainly affecting people between the ages of 10 and 50.

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Challenge Seeks GI Tract Drug Delivery in Animals


(Stefanie Drenkow-Lolies, Pixabay)

24 March 2017. A new challenge offered through InnoCentive is aiming for solutions to protect biological drugs delivered into the gastrointestinal, or GI, tract of animals. The competition has a total prize purse of $20,000 and a deadline for submissions of 22 May 2017.

The challenge is conducted by InnoCentive in Waltham, Massachusetts that conducts open-innovation, crowdsourcing competitions for corporate and organization sponsors. In this case, the sponsor is anonymous. Free registration is required to see details of the competition.

The challenge sponsor requires a method for delivery of biological drug molecules, such as proteins and peptides, for animals in their feed, to be released in the animals’ GI tracts. Getting biologic therapies to the GI tract, however, is difficult, due to the chemical conditions encountered along the way, such as low pH and digestive enzymes, that can alter the nature of the treatments.

In addition, stability of biologic drugs can be affected by heat, as well as manufacturing and storage conditions that degrade biological molecules. As a result, the sponsor is seeking solutions that protect the integrity and activity of biological therapies designed for delivery to the GI tracts of animals.

InnoCentive calls this type of competition, a theoretical-licensing challenge that requires submission of a written proposal. In a theoretical challenge, participants generally describe an idea still in development and not yet reached the proof-of-concept stage. Proposals often contain detailed descriptions, specifications, and requirements for bringing the idea closer to fruition as an actual product or service.

The sponsor expects to ask for non-exclusive rights to the ideas proposed by the winning entries, due by 22 May 2017. While the competition has a total purse of $20,000, the sponsor has not yet announced the number or amounts of prizes to be awarded.

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Genetic Techniques Speed Brain, Muscle Cell Production

Induced pluripotent stem cells

Induced pluripotent stem cells reprogrammed from human skin (California Institute for Regenerative Medicine)

24 March 2017. A new technology targets the expression of genes in stem cells to produce specific brain and muscle cells on demand and in a few days, a fraction of the time now required. A team from University of Cambridge and Wellcome Trust Sanger Institute, also in Cambridge, U.K. describes the technology the 23 March issue of the journal Stem Cell Reports.

Researchers led by Cambridge neuroscience professor Mark Kotter are seeking faster and more reliable methods for producing functioning human cells from stem cells for research and eventually treatments. Current methods for inducing human pluripotent stem cells — the type of stem cells that can transform into almost type of tissue — into brain and muscle cells take from 3 to 20 weeks, say the authors. And techniques for altering the genes in the stem cells use lentiviruses, benign viruses to deliver modified or healthy genes to the cells, which the authors say are imprecise, and can cause complications and require further purification steps.

Kotter and colleagues devised a different approach for producing functioning cells from stem cells, which they call OPTi-OX, short for OPTimised inducible OvereXpression. This technology induces the expression of proteins known as transcription factors that transcribe, or convert, genetic codes in DNA into instructions in RNA for cells to function. Their process adapts techniques from gene therapy that seek out genomic safe harbors for delivery of healthy genes, but in this case to induce the expression of genes to produce many copies of functioning cells.

OPTi-OX works by reprogramming human embryonic stem cells to produce uniform functioning cells in large quantities. The reprogramming process is critical, since OPTi-OX is designed as a platform technology, where the precise genetic engineering of the stem cells determines the transcription factors and nature of the functioning cells being produced. The researchers envision canned genetic programs called cassettes inserted into stem cell genomes to produce large numbers of human cells on demand.

In the paper, the Cambridge and Wellcome Trust Sanger team produced neurons or nerve cells found in the brain, as well as oligodendrocytes, or “white matter” cells that support brain functions. The researchers also produced skeletal muscle cells called myocytes. The OPTi-OX platform made it possible for researchers to adjust and refine the programming to produce these working human cells from stem cells in 5 to 10 days.

Production of oligodendrocytes by the team is considered particularly important because of the cells’ key roles in a number of neurological disorders, with promising therapeutic applications. But more immediate applications of OPTi-OX are high-throughput drug screens and toxicology testing performed as part of drug discovery.

“Neurons produced in this study are already being used to understand brain development and function,” says Kotter in a joint statement. “This method opens the doors to producing all sorts of hard-to-access cells and tissues so we can better our understanding of diseases and the response of these tissues to newly developed therapeutics.”

The institutions filed for patent protection on the OPTi-OX technology. In addition, Kotter and Cambridge entrepreneur Gordana Apic founded the company Elpis BioMed to commercialize the technology. The start-up enterprise, incorporated in November 2017, aims to become a supplier of functioning cells for academic research and drug discovery.

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Regeneron to Sequence 500K UK Biobank Genomes

Genomics graphic

(National Human Genome Research Institute, NIH)

23 March 2017. A biotech company and health database center are partnering with drug maker GlaxoSmithKline to produce genomic data on 500,000 individuals for drug discovery. Regeneron Genetics Center in Tarrytown, New York will sequence the genomes of participants in the UK Biobank, for researchers at Regeneron and GSK to identify insights and targets for new therapies, with the first data made publicly available after 9 months.

GSK and Regeneron plan to take advantage of findings from the study to improve the odds of finding effective medicines against disease. The companies cite data showing 90 percent of experimental drugs fail to advance past clinical trials testing new therapies for safety and efficacy, due in many cases to a failure to understand the complete connections between the drugs and the molecular nature of the diseases they treat. Medications developed with this understanding, say the companies, have higher success rates.

Regeneron Genetics Center is a subsidiary of the biotechnology company Regeneron that applies high-throughput genomic sequencing to discovery of new treatments. The center sequences exomes, that cover the exons, or protein coding regions of the human genome. Exomes account for only a small percentage of base pairs in the genome, but they represent about 85 percent of all disease causing mutations. The Regeneron center then matches results of the whole exome sequencing to de-identified medical records, with more than 150,000 of those records now stored.

In this collaboration, Regeneron will conduct genetic sequencing of the 500,000 volunteers in the U.K. Biobank membership. U.K. Biobank, in Stockport, stores health and wellness data of the volunteers, including blood and other specimens, for medical research studies by academic labs and industry. The organization says its data are used for diagnostics and treatment of a wide range of diseases, including, cancer, heart disease, stroke, diabetes, and arthritis, as well as depression and some forms of dementia. All of the data provided to researchers have personal identification removed.

Under the agreement, Regeneron and GSK will sequence the genomes of 50,000 individuals sampled from the U.K. Biobank volunteers, with the companies committing undisclosed funding for the analysis. Regeneron and GSK will have first access to the data, with the analysis completed by the end of 2017, and the results provided back to U.K. Biobank after 9 months. The partners say the findings will also be submitted for publication in scientific journals.

Sequencing of the remaining 450,000 UK Biobank participants is expected to take 3 to 5 years. But even with data from 50,000 individuals, it’s possible to derive meaningful results.

As reported by Science & Enterprise in December 2016, Regeneron Genetics Center analyzed genetic data from 50,726 clients of the Geisinger Health System in Pennsylvania, which when combined with data from electronic health records, revealed that a segment of the Geisinger population tested has familial hypercholesterolemia, a blood disorder causing high cholesterol levels. When compared to data in electronic health records, the findings show only about a quarter of the records offer any indication of familial hypercholesterolemia, which suggests their conditions would have gone unnoticed without results from genetic tests.

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