Category Archives: Genetic Medicine

MOUNTAIN VIEW, Calif., Feb. 29, 2012 (GLOBE NEWSWIRE) -- Complete Genomics Inc. (Nasdaq:GNOM - News), the whole human genome sequencing company, today announced the formation of its Genomic Medicine Advisory Board (GMAB). The GMAB will provide insight and guidance on the best ways for the company to provide sequencing services to healthcare organizations and physicians interested in implementing genomic medicine in their practice.

Inaugural board members include distinguished physicians and scientists. Robert Nussbaum, MD, Holly Smith Professor of Medicine, chief of the Division of Medical Genetics in the Department of Medicine, and director of the Cancer Risk and Cardiovascular Genetics Programs at the University of California, San Francisco, will serve as GMAB chairman.

"There are a number of major challenges to deploying whole genome sequencing in the clinic," said Dr. Nussbaum. "The Complete Genomics GMAB is a wonderful opportunity to assemble thought leaders in genomic medicine to begin to define the 'clinical genome' and how to make it most useful and accessible to clinicians, establish technical and ethical standards, and address some of the regulatory and reimbursement obstacles that exist in this rapidly-evolving field. Complete Genomics is committed to doing this right."

Founding members of the Complete Genomics GMAB include the following:

"Whole genome sequencing data will be used by physicians to make treatment decisions for their patients. We're working hard to make sure we can provide them with the information they need in the most accessible and actionable format," said Complete Genomics Chairman, President and CEO Dr. Clifford Reid. "A key step for us is putting together an advisory board like this that includes leaders and visionaries in medical genetics, clinical pathology, oncology, pediatrics, clinical laboratory science, health information technology, healthcare delivery, ethics, and regulatory and reimbursement policy."

The GMAB plans to meet annually to discuss scientific and policy issues and provide feedback on the company's ongoing projects and advice on future direction.

About Complete Genomics

Complete Genomics is the whole human genome sequencing company that has developed and commercialized an innovative DNA sequencing platform. The Complete Genomics Analysis Platform (CGA(TM) Platform) combines Complete Genomics' proprietary human genome sequencing technology with advanced informatics and data management software. Additional information can be found at http://www.completegenomics.com.

The Complete Genomics logo is available at http://www.globenewswire.com/newsroom/prs/?pkgid=8216

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Complete Genomics Announces Formation of Genomic Medicine Advisory Board

Embargoed for Release Wednesday, February 29, 2012 9 a.m. EST

An online tool launched today by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic tests. The free resource, called the Genetic Testing Registry (GTR), is available at http://www.ncbi.nlm.nih.gov/gtr/.

"Im delighted that NIH has created this powerful, new tool. It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing," said NIH Director Francis S. Collins, M.D., Ph.D., who unveiled GTR at NIH's observance of international Rare Disease Day. "This registry will help a lot of people from health care professionals looking for answers to their patients diseases to researchers seeking to identify gaps in scientific knowledge."

Genetic tests currently exist for about 2,500 diseases, and the field continues to grow at an astonishing rate. To keep pace, GTR will be updated frequently, using data voluntarily submitted by genetic test providers. Such information will include the purpose of each genetic test and its limitations; the name and location of the test provider; whether it is a clinical or research test; what methods are used; and what is measured. GTR will contain no confidential information about people who receive genetic tests or individual test results.

Genetic tests that the Food and Drug Administration has cleared or approved as safe and effective are identified in the GTR. However, most laboratory developed tests currently do not require FDA premarket review. Genetic test providers will be solely responsible for the content and quality of the data they submit to GTR. NIH will not verify the content, but will require submitters to agree to a code of conduct that stipulates that the information they provide is accurate and updated on an annual basis. If submitters do not adhere to this code, NIH can take action, including requiring submitters to correct any inaccuracies or to remove such information from GTR.

In addition to basic facts, GTR will offer detailed information on analytic validity, which assesses how accurately and reliably the test measures the genetic target; clinical validity, which assesses how consistently and accurately the test detects or predicts the outcome of interest; and information relating to the tests clinical utility, or how likely the test is to improve patient outcomes.

"Our new registry features a versatile search interface that allows users to search by tests, conditions, genes, genetic mutations and laboratories," said Wendy Rubinstein, M.D., Ph.D., director of GTR. "What's more, we designed this tool to serve as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific and literature resources available through the National Library of Medicine at NIH."

GTR is built upon data pulled from the laboratory directory of GeneTests, a pioneering NIH-funded resource that will be phased out over the coming year. GTR is designed to contain more detailed information than its predecessor, as well as to encompass a much broader range of testing approaches, such as complex tests for genetic variations associated with common diseases and with differing responses to drugs. GeneReviews, which is the section of GeneTests that contains peer-reviewed, clinical descriptions of more than 500 conditions, is also now available through GTR.

The GTR database was developed by the National Center for Biotechnology Information (NCBI), part of NIHs National Library of Medicine, under the oversight of the NIH Office of the Director and with extensive input from researchers, testing labs, health care providers, patients and other stakeholders. To view video tutorials on how to use GTR, go to http://www.youtube.com/playlist?list=PL1C4A2AFF811F6F0B.

The Office of the Director, the central office at NIH, is responsible for setting policy for NIH, which includes 27 Institutes and Centers. This involves planning, managing, and coordinating the programs and activities of all NIH components. The Office of the Director also includes program offices which are responsible for stimulating specific areas of research throughout NIH. Additional information is available at http://www.nih.gov/icd/od/.

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Confused by genetic tests? NIH’s new online tool may help

GIA announces the release of a comprehensive global report on the Genetic Testing market. The global market for Genetic Testing is forecast to reach US$2.2 billion by 2017. Increasing knowledge about the potential benefits in genetic testing is one of the prime reasons for the growth of the genetic testing market. Advancements in the genetic testing space, aging population and a subsequent rise in the number of chronic diseases, and increasing incidence of cancer cases are the other factors propelling growth in the genetic testing market.

San Jose, California (PRWEB) February 28, 2012

The US represents the largest market for genetic testing worldwide, as stated by the new market research report on Genetic Testing. Screening for genetic disorders continues to be of fundamental importance in view of the increasing awareness on the importance of prognostic and predictive screening, such as maternal screening. Among such tests, screening for genetic mutations within the CFTR (Cystic Fibrosis Trans-Membrane Conductance Regulator) gene is the most frequently conducted test in the US.

Advancements in the genetic testing space are expected to aid in tailoring Personalized Medicine for specific targeted markets. Genetic testing not only identifies the finest cancer treatment for specific patients, but also permits physicians to find if some drugs are unsuitable for a section of patients, while they can be given freely to a majority of others. Genetic testing has also enabled the easy diagnosis of diseases, such as haemophilia, sickle cell anaemia, and cystic fibrosis, facilitating several patients in leading a normal life. Nevertheless, owing to the increasing incidence of cancer cases, cancer genetic testing is expected to register high growth, and would dominate the genetic testing market by 2017.

As each individuals genetic structure differs, there is a need to develop a method that can be customized as per the individual needs. One of the major issues faced by the industry is the urgent need to employ standard regulations with regard to procedures employed during the genetic testing process. Lack of credible standard procedure has led to the fear among individuals regarding the authenticity of genetic reports. Genetic counseling services are on the rise, specifically in the US. Presently, there are around 2,780 certified genetic counselors operating in the United States.

Major players profiled in the report include Abbott Laboratories, Abbott Molecular Inc., Applied Biosystems Inc., AutoGenomics Inc., BioRad Laboratories, Celera Group, ELITech Group, PerkinElmer Inc., Quest Diagnostics Inc., Roche Diagnostics Corp., Roche Molecular Diagnostics Inc., Transgenomic Inc., among others.

The research report titled "Genetic Testing: A Global Strategic Business Report" announced by Global Industry Analysts Inc., provides a comprehensive review of the genetic testing market, current market trends, key growth drivers, new product innovations/launches, recent industry activity, and profiles of major/niche global market participants. The report provides annual sales estimates and projections for the global genetic testing market for the years 2007 through 2015 for the regions, including US, Canada, Japan, Europe, and Rest of World. The report also analyzes the US market for genetic testing by application type - Pharmacogenomic Testing, Prenatal and Newborn Genetic Testing, and Predictive Medicine. Also, a six-year (2003-2008) historic analysis is provided for additional market perspective.

For more details about this comprehensive market research report, please visit

http://www.strategyr.com/Genetic_Testing_Market_Report.asp

About Global Industry Analysts, Inc.

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Global Genetic Testing Market to Reach US$2.2 Billion by 2017, According to New Report by Global Industry Analysts, Inc.

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) The National Institutes of Health has launched a new web resource aimed at providing consumers and healthcare providers with information about all of the genetic tests that are currently on the market.

The Genetic Testing Registry, unveiled today international Rare Disease Day was developed to serve as an encyclopedia of the genetic tests that currently exist for around 2,500 genetic diseases, one which will be updated as new tests and applications come on the market.

The goal was to create a resource that would help healthcare providers and consumers sort through information about the available tests, because most do not require premarket review by the US Food and Drug Administration.

The GTR entries will cover information on the purpose of the test, its limitations, the name and location of the providers, whether it is for clinical or research use, what methods are used, and how the results are measured. NIH will not verify the content of the entries provided by the testing providers, but it will require that they agree to a code of conduct for accuracy that will enable NIH to require submitters to correct inaccuracies or to remove such information from the resource.

On top of the basic information, the voluntary GTR will provide details about a test's analytic validity, clinical validity, and clinical utility.

"I'm delighted that NIH has created this powerful, new tool. It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing," NIH Director Francis Collins said in a statement.

"This registry will help a lot of people from healthcare professionals looking for answers to their patients' diseases to researchers seeking to identify gaps in scientific knowledge."

"Our new registry features a versatile search interface that allows users to search by tests, conditions, genes, genetic mutations, and laboratories," said GTR Director Wendy Rubinstein. "What's more, we designed this tool to serve as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific and literature resources available through the National Library of Medicine at NIH."

The registry was developed by the National Center for Biotechnology Information, with input from a range of stakeholders, including testing labs, healthcare providers, patients, and researchers, through a public comment period and public meetings.

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NIH Launches Genetic Testing Registry

NOVATO, Calif., Feb. 28, 2012 /PRNewswire/ -- Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the FDA Office of Orphan Products Development has granted orphan drug designation for UX003 for the treatment of MPS 7.  MPS 7 is an extremely rare autosomal recessive lysosomal storage disorder characterized by a deficiency of the lysosomal enzyme Beta-glucuronidase, required for the degradation of the glycosaminoglycans dermatan sulfate (DS) and heparan sulfate (HS).  UX003 is a recombinant human Beta-glucuronidase intended as an enzyme replacement therapy for the treatment of MPS 7.  MPS 7 was originally described in 1973 by William Sly, MD, St. Louis University School of Medicine, and is also known as Sly Syndrome. Ultragenyx in-licensed the MPS 7 program from St. Louis University.  su

"Obtaining orphan drug designation for UX003 is a significant achievement for Ultragenyx that adds value to our development pipeline and attests to the importance of this product candidate in filling an unmet medical need," said Emil D. Kakkis, MD, PhD, Chief Executive Officer of Ultragenyx. "We look forward to continuing to collaborate with Dr. Sly and colleagues at St. Louis University to advance this urgently needed therapy into clinical testing." 

The Orphan Drug Designation program provides orphan status to drugs and biologics intended for the safe and effective treatment, diagnosis or prevention of rare diseases/disorders that affect fewer than 200,000 people in the U.S.  Among the benefits of orphan designation in the US are seven years of market exclusivity following FDA approval, waiver or partial payment of application fees, and tax credits for clinical testing expenses conducted after orphan designation is received.

About MPS 7

Mucopolysaccharidosis type 7 (MPS 7), also known as Sly syndrome, is a rare genetic, metabolic disorder and is one of 40 different lysosomal storage disorders.  MPS 7 is caused by the deficiency of Beta-glucuronidase, an enzyme required for the breakdown of the glycosaminoglycans (GAGs) dermatan sulfate and heparan sulfate.  These complex GAG carbohydrates are a critical component of many tissues. The inability to properly breakdown GAGs leads to a progressive accumulation in many tissues and multi-system disease.  There are a wide variety of clinical symptoms including enlarged organs, stiff joints, respiratory disease and cardiac complications.

While its clinical manifestations are similar to MPS 1 and MPS 2, MPS 7 is one of the rarest among the MPS disorders and is likely underdiagnosed as are most rare diseases. MPS 7 has a wide spectrum of clinical manifestations and can present as early as at birth or in older patients with less rapidly progressive disease. There are no approved therapies for MPS 7 today.

About Ultragenyx

Ultragenyx is a privately held, developmental stage biotechnology company committed to bringing life-enhancing therapeutics for patients with rare and ultra-rare genetic diseases, also known as orphan and ultra-orphan diseases, to market.  The company focuses on rare metabolic diseases that affect small numbers of patients, but for which the unmet medical need is high and there are no effective treatments. Ultragenyx intends to build a sustainable pipeline of safe and effective therapies to address these underserved diseases.  Ultragenyx' lead program, UX001, is being evaluated as a potential treatment for GNE myopathy, also known as hereditary inclusion body myopathy (HIBM).  UX001 program has been granted orphan drug designation in the U.S.

The company is led by an experienced management team in rare disease therapeutics.  Ultragenyx is striving toward an improved model for successful rare disease drug development which has the potential to increase efficiency while maintaining appropriate safety and efficacy standards. The company believes that it can deliver significant value to patients by building a diverse and high quality pipeline of rare disease therapeutics and efficiently transforming good science into great medicine.

For more information on Ultragenyx, please visit the company's website at http://www.ultragenyx.com.

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Ultragenyx Granted Orphan Drug Designation for UX003 for the Treatment of Mucopolysaccharidosis Type 7 (MPS 7)

Public release date: 27-Feb-2012
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Contact: Jennifer Santisi
jsantisi@aaas.org
202-326-6213
American Association for the Advancement of Science

A striking discovery in the study of human genetics was the focus of the most-visited press release posted on EurekAlert! in 2011. Researchers found that part of the non-African human X chromosome came from Neanderthals, confirming that they interbred with early human populations.

Breakthroughs in mathematics, physics, chemistry, and medicine, along with discoveries in zoology, psychology, and astrobiology, were also featured in the 10 releases most often viewed by EurekAlert! readers in 2011.

Website statistics collected over the course of the year identified the year's 10 most-visited news releases. The No. 1 most-visited press release garnered over 102,000 views.

The (love) connection between early humans and Neanderthals described in 2011's most-visited news release

Researchers from the University of Montreal and the CHU Sainte-Justine Research Center answered a nearly 10-year-old question concerning the origin of a part of the human X chromosome that shows characteristics different from the rest of the chromosome.

Using the Neanderthal genome, which was sequenced in 2010, to compare with the human genome, researchers found a match. The mysterious piece of the human X chromosome's sequence matches the Neanderthal's. From this, the researchers conclude that all non-African humans are in part descended from Neanderthals.

The finding was published in Molecular Biology and Evolution.

Uncovering new ground in medical and health sciences

Major advances in the health and medical sciences again drew significant attention from EurekAlert! readers in 2011.

In the tenth most-visited press release, Carnegie Mellon researchers replicated the hemoglobin protein from woolly mammoths. Their work may assist in developing blood products for people undergoing surgery-induced hypothermia, making such medical procedures safer.

The Mayo Clinic reported on a new therapy for individuals with multiple myeloma, a bone marrow cancer, in the fourth most-visited press release of 2011. Researchers found that the drug thalidomide, which caused birth defects when it was first used by pregnant women suffering severe morning sickness, is effective in treating multiple myeloma tumors in some patients. The finding opens up a new avenue for exploring personalized treatment options for myeloma patients based on biomarkers.

News releases on psychology studies were the ninth and sixth most heavily trafficked stories.

A study on meditation posted by Massachusetts General Hospital was the ninth most-viewed release. It showed that regularly practicing meditation not only makes people feel better, but it also physically alters parts brain that control stress, memory, self-awareness, and learning.

The article's first author, Britta H?lzel, Ph.D., said, "It is fascinating to see the brain's plasticity and that, by practicing meditation, we can play an active role in changing the brain and can increase our well-being and quality of life."

In the sixth, a researcher explores the root of that all too familiar experience of walking from one room to another and forgetting what it is you were going to do. In a study published in the Quarterly Journal of Experimental Psychology, a University of Notre Dame professor conducted experiments that demonstrate how the brain interprets moving between rooms as "event boundaries," thus making it difficult to recall memories even if they are only recently stored.

Novel research from the many and varied realms of science

The remainder of the 10 most-viewed stories of 2011 represents a variety of disciplines, including math and physics.

The seventh and eighth most-visited releases concern technological advances at the intersection of chemistry and physics. The eighth most-viewed release deals with "invisibility cloaking." It details work by assistant professor Yaroslav Urzhumov of Duke University. He applies invisibility cloaking principles that involve covering objects moving through water, such as ships, with a sponge-like coating equipped to push water out and away from the vessel. He posits that doing so could make water travel more energy efficient.

Ludovico Cademartriri, Ph.D., from Harvard University reports on his "electrical wave blaster" designed to fight fires in the seventh most-viewed story. "Controlling fires is an enormously difficult challenge. Our research has shown that by applying large electric fields we can suppress flames very rapidly," Cademartriri said. He and his team presented the device at the 241st American Chemical Society National Meeting and Exposition in March 2011.

The journal ZooKeys published an article on the discovery of the world's smallest frog species, which is the focus of the fifth most-viewed press release. The tiny frogs from the genus Paedophryne were found in New Guinea.

Astronomers from the University of Hong Kong discovered that stars naturally produce organic compounds originally thought to be found only in living systems. Their work was featured in the third most-visited story and published in Nature. The discovery prompts questions into whether these stellar organic compounds had any role in the development of life on Earth.

In the second most-visited press release, a theoretical mystery that has long vexed mathematicians was finally solved by Ken Ono of Emory University and his research group. They figured out that partition numbers, assorted number sequences that add up to equal the same number, are fractals. Fractal theory states that what appears complex and irregular from afar is actually made up of repeated patterns when examined up close.

10 Most-visited stories from 2011

Below are the 10 most-visited press releases posted on EurekAlert! in 2011, in order of the highest number of views. The list begins with the press release that received the most views.

1. Genetic research confirms that non-Africans are part Neanderthal
University of Montreal

2. New math theories reveal the nature of numbers
Emory University

3. Astronomers discover complex organic matter in the universe
The University of Hong Kong

4. Mayo Clinic: How patients will respond to immunomodulator therapy for multiple myeloma
Mayo Clinic

5. World's smallest frogs discovered in New Guinea
Pensoft Publishers

6. Walking through doorways causes forgetting, new research shows
University of Notre Dame

7. Taming the flame: Electrical wave 'blaster' could provide new way to extinguish fires
American Chemical Society

8. Effortless sailing with fluid flow cloak
Duke University

9. Mindfulness meditation training changes brain structure in 8 weeks
Massachusetts General Hospital

10. Woolly mammoth's secrets for shrugging off cold points toward new artificial blood for humans
American Chemical Society

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Story on human genetic origins is one of EurekAlert!s most-visited releases in 2011