Category Archives: Genetic medicine

FARGO Denny Sanford was recovering from possibly fatal blood clots in his lungs when he decided to invest $125 million to bring genetic medicine into the mainstream.

Sanford became ill on a hunting trip in south-central South Dakota in October, about 140 miles west of Sioux Falls.

Doctors there suspected he had pneumonia, but Sanfords personal physician, Dr. Eric Larson of Sanford Health, suspected a pulmonary embolism a blood clot in the lungs and arranged for an air ambulance to whisk him to Sioux Falls.

He really saved my life, Sanford said in a telephone interview with The Forum, referring to Larson, an internal medicine doctor and one of the champions of the new genetic medicine initiative Sanford Health announced Tuesday.

Sanford, who is in his late 70s, did not attend Tuesdays announcement, which was made in Sioux Falls, and simulcast to Sanford medical centers in Fargo, Bismarck and Bemidji, Minn.

While recuperating in his namesake hospital in Sioux Falls, Sanford reminded Kelby Krabbenhoft, Sanford Healths top executive, that his team was preparing a genetic medicine proposal.

He invited them to make their pitch two days later, when he was convalescing at home. Sanfords recent medical emergency made him receptive to the idea of placing results of genetic testing tools in the hands of primary care physicians.

It was an opportune time to lay it out on me, Sanford said, chuckling about the timing and his gratitude for the care he received.

I believe that is the medicine of the future, added Sanford, referring to the use of genetic information in tailoring health care. He recently donated $100 million to a stem cell research program in California.

Sanford, a St. Paul native who founded Premier Bank, now has donated more than $1 billion, much of it to Sanford Health, beginning with a $400 million gift in 2007.

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Denny Sanford believes genetic medicine is 'the medicine of the future'

Public release date: 29-Nov-2012 [ | E-mail | Share ]

Contact: Lauren Woods Law2014@med.cornell.edu 646-317-7401 New York- Presbyterian Hospital/Weill Cornell Medical Center/Weill Cornell Medical College

NEW YORK (Nov. 29, 2012) -- Weill Cornell Medical College researchers Dr. Shahin Rafii and Dr. Xin-Yun Huang have been elected new Fellows of the American Association for the Advancement of Science (AAAS), the world's largest general scientific society, for their significant contributions to the advancement of the biological sciences.

Dr. Rafii, director of the Ansary Stem Cell Institute and the Arthur B. Belfer Professor in Genetic Medicine at Weill Cornell, is honored for his important contributions to the field of vascular biology, stem cell homeostasis and the development of transformative preclinical models to induce organ regeneration and target tumors. Dr. Huang, professor of physiology and biophysics at Weill Cornell, is recognized for his distinguished contributions in the field of cellular signaling, particularly his investigations of G-protein-mediated cell signaling.

"Dr. Rafii and Dr. Huang's research discoveries in cellular communication, stem cell research, cancer and vascular disease have led to major advancements in biomedical research and the development of targeted therapies," says Dr. Laurie H. Glimcher, the Stephen and Suzanne Weiss Dean of Weill Cornell Medical College, who is also a Fellow of AAAS. "Weill Cornell is very proud of the work of these two world-renowned innovators in medicine and their new membership in this prominent community of scientists dedicated to advancing science around the world."

This year, Dr. Rafii and Dr. Huang are among the 702 new Fellows awarded election to the AAAS for their scientifically or socially-distinguished efforts to advance science or its applications. This prestigious honor of AAAS election is bestowed by peer Fellows of AAAS.

Dr. Rafii and Dr. Huang will be presented with an official certificate and a gold and blue rosette pin, representing science and engineering, on Saturday, Feb. 16 at the AAAS Fellows Forum during the 2013 AAAS Annual Meeting in Boston, MA. Also, new AAAS Fellows will be announced in the AAAS' journal Science on Nov. 30.

Dr. Rafii, an internationally known vascular biologist, cancer and stem-cell authority, is also an investigator of Howard Hughes Medical Institute at Weill Cornell. Dr. Rafii's research explores innovative therapeutic frontiers for cancer and vascular disorders. His research focuses on the understanding of stem cell biology, as well as the means to develop and test innovative approaches to treat cancer and vascular disorders by exploring the therapeutic potential of human and embryonic stem cells and, most recently, amniotic-fluid derived cells for treatment of human malignancies, vascular diseases and genetic disorders. His work has paved the way for stem-cell therapy for the treatment of vascular insufficiencies. Dr. Rafii received his undergraduate degree in chemistry from Cornell University and his medical degree from Albert Einstein College of Medicine. He has been funded by multiple grants from the National Institute of Health's Heart, Lung and Blood Institute, and is an active member of the Tumor Microenvironment Study Section at the National Cancer Institute. He is an elected member of the American Society of Clinical Investigation, an American Cancer Society Scholar and a Translational Researcher of the Leukemia & Lymphoma Society.

Dr. Huang's research focuses on G protein-coupled receptors and G proteins that are key cell signaling molecules with the ability to control and disseminate information flow. G protein-coupled receptors represent approximately 40 percent of the current drug targets. These receptors are activated by a diverse array of ligands, including photons, odorants, chemokines, hormones, growth factors and neurotransmitters. The GPCR-G protein signaling system plays critical roles in various physiological functions such as cardiovascular and neurological functions, and in human diseases such as cancer. Dr. Huang examines signal transduction using biochemical, genetic, molecular, cellular and structural biological approaches to uncover fundamental mechanisms that govern cellular signaling and physiological functions. His team inspects cross-talk between G proteins and nonreceptor tyrosine kinases, two of the most widely used cellular signaling mechanisms. Dr. Huang explores the activation mechanisms of G proteins by G protein-coupled receptors, the regulatory mechanisms of endothelial cell migration, blood vessel formation and tumor angiogenesis by G proteins, as well as the control mechanisms for actin cytoskeletal reorganization, cell migration and tumor metastasis. Dr. Huang completed his undergraduate studies at Wuhan University in China, received his Ph.D. from the University of Houston and his postdoctoral research training at Columbia University and Harvard University.

The AAAS Fellows tradition began in 1874. Currently, members can be considered for the rank of Fellow if nominated by the steering groups of the Association's 24 sections, or by any three Fellows who are current AAAS members, or by the AAAS chief executive officer. Each steering group then reviews the nominations of individuals within its respective section and a final list is forwarded to the AAAS Council, which votes on the aggregate list. The Council is the policymaking body of the Association, chaired by the AAAS president, and consisting of the members of the board of directors, the retiring section chairs, delegates from each electorate and each regional division and two delegates from the National Association of Academies of Science.

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Weill Cornell researchers elected Fellows of AAAS

Newswise LOS ANGELES (June 19, 2012) Cedars-Sinais Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers.

The study, published in the June 19 online issue of PLoS ONE, extends the institutes work to employ pluripotent stem cells to find a pharmaceutical treatment for spinal muscular atrophy or SMA, a genetic neuromuscular disease characterized by muscle atrophy and weakness.

With this new understanding of how motor neurons die in spinal muscular atrophy patients, we are an important step closer to identifying drugs that may reverse or prevent that process, said Clive Svendsen, PhD, director of the Cedars-Sinai Regenerative Medicine Institute.

Svendsen and his team have investigated this disease for some time now. In 2009, Nature published a study by Svendsen and his colleagues detailing how skin cells taken from a patient with the disorder were used to generate neurons of the same genetic makeup and characteristics of those affected in the disorder; this created a disease-in-a-dish that could serve as a model for discovering new drugs.

As the disease is unique to humans, previous methods to employ this approach had been unreliable in predicting how it occurs in humans. In the research published in PLoS ONE, to the team reproduced this model with skin cells from multiple patients, taking them back in time to a pluripotent stem cell state (iPS cells), and then driving them forward to study the diseased patient-specific motor neurons.

Children born with this disorder have a genetic mutation that doesnt allow their motor neurons to manufacture a critical protein necessary for them to survive. The study found these cells die through apoptosis the same form of cell death that occurs when the body eliminates old, unnecessary as well as unhealthy cells. As motor neuron cell death progresses, children with the disease experience increasing paralysis and eventually death. There is no effective treatment now for this disease. An estimated one in 35 to one in 60 people are carriers and about in 100,000 newborns have the condition.

Now we are taking these motor neurons (from multiple children with the disease and in their pluripotent state) and screening compounds that can rescue these cells and create the protein necessary for them to survive, said Dhruv Sareen, director of Cedars-Sinais Induced Pluripotent Stem Cell Core Facility and a primary author on the study. This study is an important stepping stone to guide us toward the right kinds of compounds that we hope will be effective in the model and then be reproduced in clinical trials.

The study was funded in part by a $1.9 million Tools and Technology grant from the California Institute for Regenerative Medicine aimed at developing new tools and technologies to aid pharmaceutical discoveries for this disease.

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Researchers, with Stem Cells, Advance Understanding of Spinal Muscular Atrophy

Public release date: 19-Jun-2012 [ | E-mail | Share ]

Contact: Nicole White nicole.white@cshs.org 310-423-5215 Cedars-Sinai Medical Center

LOS ANGELES (June 19, 2012) Cedars-Sinai's Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers.

The study, published in the June 19 online issue of PLoS ONE, extends the institute's work to employ pluripotent stem cells to find a pharmaceutical treatment for spinal muscular atrophy or SMA, a genetic neuromuscular disease characterized by muscle atrophy and weakness.

"With this new understanding of how motor neurons die in spinal muscular atrophy patients, we are an important step closer to identifying drugs that may reverse or prevent that process," said Clive Svendsen, PhD, director of the Cedars-Sinai Regenerative Medicine Institute.

Svendsen and his team have investigated this disease for some time now. In 2009, Nature published a study by Svendsen and his colleagues detailing how skin cells taken from a patient with the disorder were used to generate neurons of the same genetic makeup and characteristics of those affected in the disorder; this created a "disease-in-a-dish" that could serve as a model for discovering new drugs.

As the disease is unique to humans, previous methods to employ this approach had been unreliable in predicting how it occurs in humans. In the research published in PLoS ONE, to the team reproduced this model with skin cells from multiple patients, taking them back in time to a pluripotent stem cell state (iPS cells), and then driving them forward to study the diseased patient-specific motor neurons.

Children born with this disorder have a genetic mutation that doesn't allow their motor neurons to manufacture a critical protein necessary for them to survive. The study found these cells die through apoptosis the same form of cell death that occurs when the body eliminates old, unnecessary as well as unhealthy cells. As motor neuron cell death progresses, children with the disease experience increasing paralysis and eventually death. There is no effective treatment now for this disease. An estimated one in 35 to one in 60 people are carriers and about in 100,000 newborns have the condition.

"Now we are taking these motor neurons (from multiple children with the disease and in their pluripotent state) and screening compounds that can rescue these cells and create the protein necessary for them to survive," said Dhruv Sareen, director of Cedars-Sinai's Induced Pluripotent Stem Cell Core Facility and a primary author on the study. "This study is an important stepping stone to guide us toward the right kinds of compounds that we hope will be effective in the model and then be reproduced in clinical trials."

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Cedars-Sinai researchers, with stem cells, advance understanding of spinal muscular atrophy

CARLSBAD, Calif., June 19, 2012 /PRNewswire/ -- Life Technologies Corporation (LIFE) today announced it has partnered with The Hospital for Sick Children (SickKids) to advance pediatric genomic research on the Ion Proton Sequencer. Under the agreement, the semiconductor-based platform will be the primary instrument on which multiple clinical research samples will be mapped daily on four sequencers in the hospital's newly launched Centre for Genetic Medicine.

SickKids and Life Technologies will collaborate on developing sequencing workflows and protocols for the Ion Proton System that are tailored for studies of interest to researchers in the Centre. The first collaborative project will focus on sequencing clinical research samples to better understand the genetics behind autism, with a long-term goal to sequence up to 10,000 genomes per year to study various diseases in children.

"The perfect storm of unparalleled advances in genome sequencing technology and information science, and a captivated hospital striving for new ways to move forward in medical treatment, bring us to this important day," says the new Centre's Co-Director, Dr. Stephen Scherer, who also leads The Centre for Applied Genomics at SickKids and the University of Toronto's McLaughlin Centre. "We are very excited to work with Life Technologies to enhance our sequencing capabilities, such that 'genomic surveillance' may soon become the first line of investigation in all clinical research studies ongoing at our institution."

"Since the first published draft sequence of the human genome, our knowledge in genetics has exponentially increased," says Dr. Ronald Cohn, Co-Director of the SickKids Centre for Genetic Medicine. "With the help of this new technology, we will be able to further deepen our understanding of the genetic basis of human disease and translate this directly into daily clinical practice. We have finally reached a point, where individualized medicine is not just a theoretical concept, but will become an integral part of clinical care and management."

The Ion Proton Sequencer is designed to sequence an entire human genome in a day for $1,000. Unlike traditional next generation systems, it relies on semiconductor chips to map human exomes and genomes, making it much faster and less expensive to analyze DNA at unprecedented throughput levels and generate accurate sequencing data.

The Ion Proton Systemis based on the same proven technology as its predecessor, the Ion Personal Genome Machine (PGM), which is designed for sequencing small genomes or sets of genes. Combined with Life Technologies' AmpliSeq targeted sequencing technology, researchers can sequence panels of genes associated with disease on the PGM or exomes and genomes on the Ion Proton Sequencer in just a few hours.

"SickKids has a rich history of being at the forefront of pediatric medicine and we are pleased that its leaders have chosen the Ion Proton Sequencer as the Centre's primary technology to push the boundaries of genomics," said Mark Stevenson, President and Chief Operating Officer of Life Technologies. "Ion semiconductor technology's speed, simplicity and scalability are democratizing sequencing, and it will now be applied in disease research to benefit children."

The above mentioned technology is for research use only and not intended for human diagnostic or therapeutic use.

About Life Technologies Life Technologies Corporation (LIFE) is a global biotechnology company with customers in more than 160 countries using its innovative solutions to solve some of today's most difficult scientific challenges. Quality and innovation are accessible to every lab with its reliable and easy-to-use solutions spanning the biological spectrum with more than 50,000 products for translational research, molecular medicine and diagnostics, stem cell-based therapies, forensics, food safety and animal health. Its systems, reagents and consumables represent some of the most cited brands in scientific research including: Ion Torrent, Applied Biosystems, Invitrogen, GIBCO, Ambion, Molecular Probes, Novex, and TaqMan. Life Technologies employs approximately 10,400 people and upholds its ongoing commitment to innovation with more than 4,000 patents and exclusive licenses. LIFE had sales of $3.7 billion in 2011. Visit us at our website: http://www.lifetechnologies.com.

Life Technologies' Safe Harbor StatementThis press release includes forward-looking statements about our anticipated results that involve risks and uncertainties. Some of the information contained in this press release, including, but not limited to, statements as to industry trends and Life Technologies' plans, objectives, expectations and strategy for its business, contains forward-looking statements that are subject to risks and uncertainties that could cause actual results or events to differ materially from those expressed or implied by such forward-looking statements. Any statements that are not statements of historical fact are forward-looking statements. When used, the words "believe," "plan," "intend," "anticipate," "target," "estimate," "expect" and the like, and/or future tense or conditional constructions ("will," "may," "could," "should," etc.), or similar expressions, identify certain of these forward-looking statements. Important factors which could cause actual results to differ materially from those in the forward-looking statements are detailed in filings made byLife Technologies with the Securities and Exchange Commission.Life Technologies undertakes no obligation to update or revise any such forward-looking statements to reflect subsequent events or circumstances.

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The Hospital for Sick Children in Toronto Adopts Life Technologies' Ion Proton™ Sequencer to Launch New Centre for ...

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Free text in electronic health records, with the help of natural language processing (NLP) technology, can be used to create accurate clinical decision support (CDS) tools, according to a study published this week in the Journal of the American Medical Informatics Association

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Read about why a Qualcomm Life executive says mobile health doesn’t yet have an Instagram, and why it eventually will.

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Free text in electronic health records, with the help of natural language processing (NLP) technology, can be used to create accurate clinical decision support (CDS) tools, according to a study published this week in the Journal of the American Medical Informatics Association

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Read about why a Qualcomm Life executive says mobile health doesn’t yet have an Instagram, and why it eventually will.

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Biopharmaceutical vendor AstraZeneca has launched a unified communications pilot using Microsoft Lync to improve collaboration among pharmaceutical sales reps, doctors and researchers.
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