Category Archives: Transhuman News

Elizabeth McNally, MD, PhD, director of the Center for Genetic Medicine, delivered the keynote address at Computational Research Day, on human genome sequencing.

Northwesterns 4th Annual Computational Research Day brought together more than 350 faculty members and students to showcase innovative research projects, share recent insights and tools, and strengthen the computational research community throughout the university.

The event, co-sponsored by Feinberg and hosted by Northwestern Information Technology on the Evanston campus, featured presentations, a poster competition, workshops, software demos and group discussions, all centered on leveraging computational methods to answer complex research questions.

Rex Chisholm, PhD, vice dean of Scientific Affairs and Graduate Education, kicked off the conference with an opening address discussing the Northwestern Medicine Enterprise Data Warehouse, which currently holds more than 40 terabytes of clinical and research data.

We are in a completely different world today, where instead of paper records, everybodys health is now captured in an electronic record, said Chisholm, also the Adam and Richard T. Lind Professor of Medical Genetics. The ability to put that data together in a single place and start to think about big data approaches to identifying patterns in that collection of data is a major game-changer.

Chisholm also spoke about the opportunity for merging such health information with data from the NUgene Project, a genomic biobank sponsored by the Center for Genetic Medicine, which has so far sequenced the genomes of more than 1,000 participants. What we really want to do is combine that 100 terabytes of human sequence data with that 40 terabytes of phenotypic data and do an all-by-all comparison, Chisholm said. Its a classic example of a big data opportunity. And its certain that this approach once we figure out how to do it is going to completely revolutionize how we think about disease: how we think about treatment of disease, how we diagnose disease, and how we actually help people prevent disease.

Elizabeth McNally, MD, PhD, director of the Center for Genetic Medicine, delivered a keynote address on human genome sequencing and echoed the opportunities offered by computational research. This really is an area where there has been a lot of need for big data analysis and its definitely not shrinking anytime soon, said McNally, also the Elizabeth J. Ward Professor of Genetic Medicine.

Gary Wilk, a PhD student in the laboratory of Rosemary Braun, PhD, MPH, assistant professor of Preventive Medicine in the Division of Biostatistics, presented at the poster session.

In addition to biomedical research, the conference also highlighted the use of computing in a wide range of other disciplines, from economics and engineering to applied physics and the social sciences. A guest keynote address was delivered by Desmond Patton, PhD, MSW, assistant professor at the Columbia University School of Social Work, who presented on his research into innovating gang violence prevention through qualitative analysis and natural language processing of social media data.

During the speaker sessions, Paul Reyfman, MD, a fellow in pulmonary and critical care, shared his research using transcriptomics to investigate lung diseases.

Gary Wilk, a PhD student in the laboratory of Rosemary Braun, PhD, MPH, assistant professor of Preventive Medicine in the Division of Biostatistics, presented his research, Genetic Variants Modulate Gene Regulation by microRNAs in Cancer, at the events poster session.

We came up with a novel approach using computational methods to integrate many different molecular cancer datasets from large cancer cohorts, and we applied them to find these results, Wilk said.

At the poster session award ceremony, Yoonjung Yoonie Joo, a Health and Biomedical Informatics PhD student in the Driskill Graduate Program (DGP), received second-place for Phenome-wide Association Studies of Polycystic Ovary Syndrome (PCOS), her research with principal investigator M. Geoffrey Hayes, PhD, associate professor of Medicine in the Division of Endocrinology.

Our project identified several significant phenotypic associations with PCOS risk alleles, including diabetes and its comorbidities, Joo said. We suggested novel etiologic pathways underlying PCOS susceptibility loci, enabling biomedical researchers to potentially discover new therapeutic targets for PCOS treatment in the future.

The first-place prize was awarded to Shannon Brady, in the Weinberg College of Arts and Sciences, with third-place going to Jamilah Silver, in the School of Education and Social Policy.

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Scientists and Students Share Insights at Computational Research Day - Northwestern University NewsCenter

April 27, 2017

Two papers published today by the Journal of the Royal Society of Medicine, debate gene editing and the health of future generations. Stage and screen actress Kiruna Stamell, who has a rare form of dwarfism, proposes that gene editing does not represent an improvement in healthcare; while Dr Christopher Gyngell, a research fellow at the Oxford Uehiro Centre for Practical Ethics, argues that provided it is well regulated, gene editing could greatly improve the health of our descendants.

Stamell writes that if gene editing is used simply to 'disappear' certain conditions and thus certain types of people, we must look at the ethics and impact of this more broadly and redefine what it means to be 'healthy' on a micro and macro level.

She believes that gene editing has far-reaching complications that affect more than individual health. She says: "Gene editing, if only available to certain groups, will drive social inequality further as those who can't afford it are left behind or discriminated against for having been born, when the opportunity was there for them to never have existed at all."

Stamell asks: "Will those people be left unsupported by a society that prefers to weed them out rather than allow them access and a share of its wealth and benefits?" She voices concern for future generations as variation is edited out. "Small differences begin to be perceived as greater ones and society's ability to adapt and accommodate differences will shrink" she says. She concludes that a community of people who have forgotten how to adapt and embrace diversity can't be healthy for anyone.

Gyngell discusses the difficult and complex questions raised about disability, diversity and risks to human health. How to distinguish healthy forms of human diversity from disease and disability is, he writes, a subject of intense debate in philosophy but we should not let conceptual uncertainty be a barrier to the development of gene editing.

The use of gene editing in research, he writes, will greatly increase our knowledge of development and could lead to novel treatments for disease. He says: "Using gene editing to study early development could lead to a greater understanding of the causes of infertility and to better treatment options."

Gyngell goes onto describe how gene editing will be able to correct the mutations associated with fatal genetic disorders such as Tay Sachs disease and Duchenne muscular dystrophy. The incidence of these conditions can be reduced by using genetic selection techniques but, according to Gyngell, we may have reasons to prefer gene editing. He says: "Selection prevents disease by changing who comes into existence, whereas gene editing ensures those who come into existence have the best shot of living a full life."

Gyngell concludes that a case-by-case system of regulation for gene editing could work to both reduce rates of fatal genetic disease and avoid risking traits that may represent valuable types of diversity.

Explore further: Will AAV vectors have a role in future novel gene therapy approaches?

More information: Christopher Gyngell. Gene editing and the health of future generations, Journal of the Royal Society of Medicine (2017). DOI: 10.1177/0141076817705616

Kiruna Stamell. Why gene editing isn't the answer, Journal of the Royal Society of Medicine (2017). DOI: 10.1177/0141076817706278

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Researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) have identified a previously unrecognized step in stem cell-mediated muscle regeneration. The study, published in Genes and Development, provides new ...

These changes, known as epigenetic modifications, control the activity of our genes without changing the actual DNA sequence. One of the main epigenetic modifications is DNA methylation, which plays a key role in embryonic ...

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The search for the genetic determinants of extreme longevity has been challenging, with the prevalence of centenarians (people older than 100) just one per 5,000 population in developed nations.

Researchers intent on understanding how too little sleep can undermine health have long suspected a relationship between short sleep duration and the actions of specific genes, but finding the genes involved has proven difficult. ...

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Actress Kiruna Stamell debates gene editing with ethicist Dr. Christopher Gyngell - Medical Xpress

Researchers have taken an important step toward better lung cancer treatment by using blood tests to track genetic changes in tumors as they progress from their very earliest stages.

With experimental tests that detect bits of DNA that tumors shed into the blood, they were able to detect some recurrences of cancer up to a year before imaging scans could, giving a chance to try new therapy sooner.

It's the latest development for tests called liquid biopsies, which analyze cancer using blood rather than tissue samples. Some doctors use these tests now to guide care for patients with advanced cancers, mostly in research settings. The new work is the first time tests like this have been used to monitor the evolution of lung tumors at an early stage, when there's a much better chance of cure.

Only about one third of lung cancer cases in the United States are found at an early stage, and even fewer in other parts of the world. But more may be in the future as a result of screening of longtime smokers at high risk of the disease that started a few years ago in the U.S.

Early-stage cases are usually treated with surgery. Many patients get chemotherapy after that, but it helps relatively few of them.

"We have to treat 20 patients to cure one. That's a lot of side effects to cure one patient," said Dr. Charles Swanton of the Francis Crick Institute in London.

The new studies he led suggest that liquid biopsies might help show who would or would not benefit from chemotherapy, and give an early warning if it's not working so something else can be tried.

Cancer Research UK, a charity based in England, paid for the work, and results were published online Wednesday by Nature and the New England Journal of Medicine .

To be clear: This kind of care is not available yet the tests used in these studies are experimental and were customized in a lab to analyze the genes in each patient's cancer. But the technology is advancing rapidly.

The company that generated the tests for the study in Nature California-based Natera Inc. plans to offer the tests for research by universities and drug companies later this year and hopes to have a version for routine use in cancer care next year.

"This is coming, and it's coming fast," said Dr. David Gandara, a lung specialist at the University of California, Davis, who had no role in the studies but consults for two companies developing liquid biopsies. A test that could spare many people unnecessary treatment "would be huge," he said.

In the studies, researchers analyzed tumors from about 100 people with non-small cell lung cancer, the most common form of the disease. Even in these early-stage cases, they found big variations in the number of gene flaws, and were able to trace how the tumors' genes changed over time.

People with many gene or chromosome problems were four to five times more likely to have their cancer return, or to die from their disease within roughly two years.

They also looked at 14 patients whose cancers recurred after surgery, and compared them to 10 others whose did not. Blood tests after surgery accurately identified more than 90 percent of them that were destined to relapse, up to a year before imaging tests showed that had occurred.

The results suggest that using liquid biopsy tests to help select and adjust treatments is "now feasible," at least from a scientific standpoint, the authors write.

A big issue is cost, though. Liquid biopsies sold now in the U.S. cost nearly $6,000. Tests that more narrowly track a patient's particular tumor gene changes, like the one in these studies, may cost less. They may save money in the long run, by preventing futile treatment, but this has yet to be shown.

Liquid biopsy video: https://www.youtube.com/watch?v=fPKqtPcPvd4

Lung cancer treatment info: https://www.cancer.org/cancer/non-small-cell-lung-cancer/treating/by-stage.html

Marilynn Marchione can be followed at http://twitter.com/MMarchioneAP

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Blood test offers hope for better lung cancer treatment - ABC News

Obesity amplifies genetic risk of nonalcoholic fatty liver disease Science Daily An international study based at UT Southwestern Medical Center revealed a striking genetic-environmental interaction: Obesity significantly amplifies the effects of three gene variants that increase risk of nonalcoholic fatty liver disease (NAFLD) by ... and more »

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Obesity amplifies genetic risk of nonalcoholic fatty liver disease - Science Daily

LOS ANGELES, April 26, 2017 /PRNewswire/ --Capricor Therapeutics, Inc. (CAPR), a clinical-stage biotechnology company developing first-in-class biological therapies for cardiac and other medical conditions, today announced that Linda Marbn, Ph.D., president and chief executive officer, is scheduled to present at the Alliance for Regenerative Medicine's 5th Annual Cell & Gene Therapy Investor Day on April 27, 2017 at The State Room in Boston, Massachusetts. The presentation will begin at approximately 9:40 a.m. eastern time and a live webcast of the event will be available at http://www.arminvestorday.com/webcast/.

About Capricor Therapeutics

Capricor Therapeutics, Inc. (CAPR) is a clinical-stage biotechnology company developing first-in-class biological therapies for cardiac and other medical conditions. Capricor's lead candidate, CAP-1002, is a cell-based candidate currently in clinical development for the treatment of Duchenne muscular dystrophy, myocardial infarction (heart attack), and heart failure. Capricor is exploring the potential of CAP-2003, a cell-free, exosome-based candidate, to treat a variety of disorders. For more information, visit http://www.capricor.com.

Cautionary Note Regarding Forward-Looking Statements

Statements in this press release regarding the efficacy, safety, and intended utilization of Capricor's product candidates; the initiation, conduct, size, timing and results of discovery efforts and clinical trials; the pace of enrollment of clinical trials; plans regarding regulatory filings, future research and clinical trials; plans regarding current and future collaborative activities and the ownership of commercial rights; scope, duration, validity and enforceability of intellectual property rights; future royalty streams, expectations with respect to the expected use of proceeds from the recently completed offerings and the anticipated effects of the offerings, and any other statements about Capricor's management team's future expectations, beliefs, goals, plans or prospects constitute forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Any statements that are not statements of historical fact (including statements containing the words "believes," "plans," "could," "anticipates," "expects," "estimates," "should," "target," "will," "would" and similar expressions) should also be considered to be forward-looking statements. There are a number of important factors that could cause actual results or events to differ materially from those indicated by such forward-looking statements. More information about these and other risks that may impact Capricor's business is set forth in Capricor's Annual Report on Form 10-K for the year ended December 31, 2016, as filed with the Securities and Exchange Commission on March 16, 2017, and in its Registration Statement on Form S-3, as filed with the Securities and Exchange Commission on September 28, 2015, together with prospectus supplements thereto. All forward-looking statements in this press release are based on information available to Capricor as of the date hereof, and Capricor assumes no obligation to update these forward-looking statements.

CAP-1002 is an Investigational New Drug and is not approved for any indications. Capricor's exosomes technology, including CAP-2003, has not yet been approved for clinical investigation.

For more information, please contact:

Corporate Capricor Therapeutics, Inc. AJ Bergmann, Vice President of Finance +1-310-358-3200 abergmann@capricor.com

Investor RelationsArgot Partners Kimberly Minarovich +1-212-600-1902 kimberly@argotpartners.com

To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/capricor-therapeutics-to-present-at-the-alliance-for-regenerative-medicines-cell--gene-therapy-investor-day-300445808.html

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Capricor Therapeutics to Present at the Alliance for Regenerative Medicine's Cell & Gene Therapy Investor Day - Yahoo Finance