Daily Archives: March 6, 2017

From brain implants to a map of human cells, the Massachusetts Institute of Technology is out with its annual list of 10 breakthrough technologies. And although its peppered with cool stuff like face-detecting tech that can authorize payments and 360-degree selfies, three healthcare breakthroughs made this years list.

Scientists are making remarkable progress at using brain implants to restore the freedom of movement that spinal cord injuries take away, according to the report.

In recent years, lab animals and a few people have controlled computer cursors or robotic arms with their thoughts, thanks to a brain implant wired to machines, the authors write. Now researchers are taking a significant next step toward reversing paralysis once and for all. They are wirelessly connecting the brain-reading technology directly to electrical stimulators on the body so that peoples thoughts can again move their limbs.

Researchers have been chasing the dream of gene therapy for decades. Until recently it had produced more disappointments than successes. But now, crucial puzzles have been solved and gene therapies are on the verge of curing devastating genetic disorders.

Fixing rare diseases, impressive in its own right, could be just the start, according to the article.

RELATED:Hype surrounds precision medicine, but significant challenges remain

The first comprehensive map of human cells should reveal, for the first time, what human bodies are made of, providing scientists with a sophisticated new model of biology that could speed the search for drugs, according to the article.

We will see some things that we expect, things we know to exist, but Im sure there will be completely novel things, Mike Stubbington, head of the cell atlas team at the Sanger Institute in the U.K., tells the publication. I think there will be surprises.

RELATED:C-suiters: Keep an eye on these technologies in 2017

Practical quantum computers, reinforcement learning and the botnet of things also made this years list. Connected devices in the home, an item of interest to healthcare organizations, are particularly vulnerable to hackers, the article notes. And that makes it easier than ever to build huge botnets that take down much more than one site at a time.

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3 breakthroughs that will change medicine - FierceHealthcare

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Akcea Therapeutics, a wholly owned subsidiary of Ionis Pharmaceuticals, Inc. (NASDAQ: IONS), today announced that the pivotal Phase 3 APPROACH study of volanesorsen met its primary endpoint of reducing triglyceride levels in patients with familial chylomicronemia syndrome (FCS).

APPROACH is a randomized, double-blind, placebo-controlled, 52-week Phase 3 study in 66 patients with FCS, a rare disease affecting approximately 3,000 to 5,000 patients worldwide. The average incoming triglyceride level of patients in the study was 2,209 mg/dL. Patients treated with volanesorsen experienced robust reductions in triglycerides and related benefits as follows:

"We are excited about the strong profile of volanesorsen in not only robustly reducing triglycerides, but also providing additional important patient benefits. FCS is a life-threatening, rare disease with multiple severe daily and chronic manifestations. We believe the efficacy and safety data from volanesorsen studies demonstrate a favorable risk-benefit profile for patients with FCS," said Paula Soteropoulos, president and chief executive officer, Akcea Therapeutics.

The APPROACH study will support the regulatory submission for FCS of volanesorsen. Additional data from the study will be presented at an upcoming medical meeting.

"People with FCS have inherited mutations that inhibit the activity of lipoprotein lipase, the enzyme required to break down triglycerides carried by chylomicrons. The results from this study provide encouraging data about triglyceride reduction in patients with FCS treated with volanesorsen, and are consistent with data from other clinical trials with the drug. Since there are currently very few effective treatment options for FCS patients, I am encouraged that, if approved, volanesorsen could offer FCS patients an option to achieve the therapeutic benefit they need," said Daniel Gaudet, M.D. Ph.D., head of the Clinical Lipidology and Rare Lipid Disorders Unit, Community Gene Medicine Center, Department of Medicine, Universit de Montreal.

The APPROACH results were consistent with findings from both the Phase 3 COMPASS study as well as the Phase 2 program for volanesorsen. In the COMPASS study, the five FCS patients treated for three months with volanesorsen experienced a 73% average decrease in triglycerides, which represented a mean absolute reduction of 1,511 mg/dL. In the Phase 2 program, which was the subject of two separate publications in the New England Journal of Medicine, the three FCS patients profiled in one publication had an average triglyceride reduction after three months of treatment with volanesorsen of 69% or a mean absolute reduction of 1,298 mg/dL.

"The success of APPROACH represents an important milestone towards our first regulatory submissions for volanesorsen in the U.S., Europe and Canada in 2017," said Dr. Louis O'Dea, chief medical officer, Akcea Therapeutics. "We seek to bring this new treatment as expeditiously as possible to FCS patients who have a high unmet need with potentially life-threatening consequences."

In the study, there were no treatment-related liver adverse events, including no increases in liver fat. There were no treatment-related renal adverse events. The most common adverse event in the volanesorsen-treated group of patients was injection site reactions (ISRs), which were mostly mild. Five volanesorsen-treated patients discontinued due to ISRs. Declines in platelet counts associated with decreases in triglycerides were observed in many patients. These were generally well managed with dose adjustment. Five volanesorsen-treated patients discontinued due to declines in platelets. No patients discontinued in the last six months of the study after platelet monitoring was fully implemented. In the volanesorsen Phase 3 program, there were infrequent serious platelet events (grade 4 thrombocytopenia) in three volanesorsen-treated patients, which resolved without incident following cessation of dosing. In the entire volanesorsen clinical program 232 individuals have been treated with volanesorsen, including 66 FCS patients, some for more than two years.

WEBCAST INFORMATIONInterested parties may listen to the call by dialing 877-443-5662 or access the webcast at http://www.ionispharma.com. Webcast replay will be available for a limited time at the same address.

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Ionis Pharma (IONS) Announces Phase 3 Study of Volanesorsen Met its Primary Endpoint - StreetInsider.com

Researchers at Stanford have made mice glow using a new gene therapy technique, showing that the process can work on living animals.

(Courtesy of Linda Cicero).

Named charge-altering releasable transporters (CARTs), the new technique allows researchers to control how much of a desired protein is expressed inside a cell, and how long the gene therapy lasts. It has a variety of applications to many central problems in biology and medicine, including immunology and cancer research.

Previous gene therapy techniques have relied on permanently changing the DNA within a cell. Colin McKinlay, a third-year Ph.D. student in chemistry and co-lead author on the paper, explains that CARTs take advantage of messenger RNA (mRNA) rather than DNA to give researchers greater control over the process.

By introducing mRNA into the cells, you can basically tell those cells to produce any given protein, McKinlay said. Its more of a temporary effect and you have a lot more control over doing that.

However, mRNA molecules are too large to enter the cell on their own. CARTs are able to latch onto the mRNA, cross the cell membrane, release the mRNA into the cell and quickly degrade into small molecules called metabolites naturally recognizable by the cell. After that, the cell takes over, translating the mRNA into the desired proteins.

Its kind of like the cell already has all of the ingredients, McKinlay said. Were just providing the recipe, and the cell then puts all the pieces together.

One possible application of the new gene therapy technique is creating new types of vaccinations. Typical vaccination techniques involve introducing a dead or weakened antigen, bacteria and foreign substances such as viruses into the cell, which the body then uses to create antibodies. CARTs could allow researchers to temporarily introduce specific proteins from the antigens into cells in order to specify targets for the immune system that are less sensitive to antigen mutation.

CARTs also have the potential to be used as a research tool. As transient polycations, CARTs allow proteins to be introduced and manufactured by the cell in controlled quantities and for a controlled amount of time, making them a valuable resource for studying signaling cascades and other biological phenomena.

The team behind CARTs primarily consists ofWender and Waymouth Group researchers, andalso drawson collaborators across Stanford. As the team begins to test the potential applications of CARTs, more researchers are expected to come on board.

In their recent paper on bioluminescent proteins in mice, researchers worked with Christopher Contag, a professor of pediatrics at Stanford, to show that the technique can work in vivo in animal models,bringing the team a step closer to using it in humans.

We couldnt have done it if we were stuck just within the confines of the chemistry department, said Jessica Vargas 16, a formerPh.D. student in the Wender Lab and a co-lead author on the paper. The work in general is a true testament to Stanfords collaborative spirit.

Contact Aulden Foltz at afoltz at stanford.edu.

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Researchers develop controllable gene therapy, make rats glow - The Stanford Daily

March 6, 2017

A sweeping international effort is connecting the dots between genes in our fat cells and our risk for obesity and cardiometabolic diseases such as heart disease and type 2 diabetes. The researchers have identified approximately 90 genes found in fat that could play important roles in such diseases - and could be targeted to develop new treatments or cures.

Unlike many genetics studies, the huge project looked at how genes' activity actually manifests in human patients - in this case, 770 Finnish men. The results will help doctors and scientists better understand how normal gene variations can affect individuals' health and risk for disease.

"There are a lot of regions in our genomes that are associated with increased risk for, let's say, type 2 diabetes. But we don't always understand what's happening in these regions," said Mete Civelek, PhD, of the University of Virginia School of Medicine. "This study actually addresses some of those questions."

Gene Effects on Health

The men used in the study have had their health histories, body composition, blood work and other wellness factors recorded in astoundingly complete detail - Civelek called them "one of the very few extremely well characterized populations in the world." The precise documentation allowed the researchers to draw conclusions about the effects of gene variations that naturally occur in subcutaneous fat. "Type 2 diabetes, coronary artery disease and obesity are multifactorial and complex diseases," Civelek said. "Genetic factors do not work in isolation - they work in a holistic way, so I think that these kind of studies that we are publishing are key to understanding what's happening in human populations."

That understanding could translate into better treatments for cardiometabolic diseases that pose a tremendous public health threat. Heart disease, for example, is the No. 1 killer in the United States. "Maybe by looking at these other markers we will be able to predict someone's risk much better, so that, for example, they can modify their diet or lifestyle even before type 2 diabetes develops," Civelek said. "Or let's say type 2 diabetes has already developed. We might be able to target some of these novel genes as a potential cure."

DNA in 3D

The project helps advance a more sophisticated - and three-dimensional - view of our DNA. Typically, people think of DNA as long, neat strands, laid out like a stretched string. But in reality, the strands are clumped together inside cells like spaghetti. Genes that appear far away from each other when viewed linearly actually may be quite close when DNA is balled up inside the cell. That physical proximity affects what they do.

"For a lot of cases, what we found was that these different genomic regions actually affect gene expression in a far-away locus, not necessarily the immediate neighborhood," he said. "That's because the DNA is compacted and there's a three-dimensional structure. [Genes] can actually come together in three-dimensional space and can affect each other."

That can have big implications for understanding what genes are doing. "We're saying that it may be the gene that we thought was causing a phenomenon is not," Civelek said. "There may actually be another gene at work that is a little bit farther away."

Civelek, of UVA's Department of Biomedical Engineering, is already hard at work on a follow-up to the project, examining a potential "master switch" that may be regulating the activity of many different genes associated with obesity, HDL (or "good") cholesterol level and risk for type 2 diabetes.

Findings Published

The effort included researchers from UVA; the University of North Carolina at Chapel Hill; the University of California, Los Angeles; Bristol-Myers Squibb; the University of Eastern Finland; the University of Michigan, Ann Arbor; the National Institutes of Health's National Human Genome Research Institute; and King's College London. Their findings have been published in the American Journal of Human Genetics.

Explore further: Gene variants associated with body shape increase risk of heart disease, type 2 diabetes

More information: Mete Civelek et al, Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits, The American Journal of Human Genetics (2017). DOI: 10.1016/j.ajhg.2017.01.027

Journal reference: American Journal of Human Genetics

Provided by: University of Virginia Health System

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Study IDs 90 genes in fat that may contribute to dangerous diseases - Medical Xpress