Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Study: Syncope results in unexplained cardiac arrests

Up to 45,000 sudden cardiac arrests occur each year in Canada, and less than five percent survive. In some of these cases, the event cannot be explained by the presence of underlying heart disease. In order to identify people at risk of these unexplained cardiac events, a newly published study examined the presence of certain warning symptoms that are present in people who have been resuscitated from a cardiac arrest.

10 Feb 2012

First European CPGs for diagnosis and management of Wilson's disease

The first European Clinical Practice Guidelines (CPGs) for the diagnosis and management of Wilson's disease are published today by the European Association for the Study of the Liver (EASL) on the EASL website.

7 Feb 2012

Whole-exome sequencing discovers cause of glycosylation disorders

Sequencing a patient's entire genome to discover the source of his or her disease is not routine - yet. But geneticists are getting close. A case report, published this week in the American Journal of Human Genetics, shows how researchers can combine a simple blood test with an "executive summary" scan of the genome to diagnose a type of severe metabolic disease.

4 Feb 2012

Vertex receives FDA approval for Kalydeco to treat rare form of CF

The U.S. Food and Drug Administration today approved Kalydeco (ivacaftor) for the treatment of a rare form of cystic fibrosis (CF) in patients ages 6 years and older who have the specific G551D mutation in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene.

1 Feb 2012

Prosensa secures €23M in new equity financing

Prosensa, the Dutch biopharmaceutical company focusing on RNA-modulating therapeutics for rare diseases with high unmet needs, announced today that it has raised €23 million in new equity financing.

25 Jan 2012

Three-parent children may be born in near future in an effort to combat mitochondrial diseases

In the next couple of years the scientific community may witness creation of children with genetic material from three parents. British scientists want to start testing a new IVF technique to try to eradicate incurable genetic diseases such as muscular dystrophy. The concept took a leap forward yesterday after the Government announced a public consultation on whether the law should be changed to allow the technique.

22 Jan 2012

MSC-mediated RNAi transfer holds promise for Huntington's disease

A team of researchers at the UC Davis Institute for Regenerative Cures has developed a technique for using stem cells to deliver therapy that specifically targets the genetic abnormality found in Huntington's disease, a hereditary brain disorder that causes progressive uncontrolled movements, dementia and death.

20 Jan 2012

Earlier detection of Fragile X syndrome made possible

Now families children with fragile X syndrome may have a chance of earlier detection and intervention. The Murdoch Children's Research Institute breakthrough could allow newborn screening of the world's most common cause of inherited developmental disability. The research findings were published in the journal Clinical Chemistry.

19 Jan 2012

STSI to present fifth annual educational conference on genomic medicine

Scripps Translational Science Institute (STSI) will present its fifth annual educational conference exploring the latest achievements and challenges in the use of genomics to diagnose and treat disease and medical conditions on March 1-2, 2012, in San Diego.

19 Jan 2012

GSA honors researchers, educators for distinguished service in the field of genetics

The Genetics Society of America (GSA) is pleased to announce the 2012 recipients of its five awards for distinguished service in the field of genetics. The recipients of these awards were nominated and selected by their colleagues.

19 Jan 2012

Pediatric research project to expand data collection linked to newborn screening results

Within the first days of life, screening tests are performed on all newborns born in the U.S. to identify rare and often life-threatening medical conditions that are not apparent at birth. These newborn screening programs have been operating for decades, permitting doctors to intervene early and improve outcomes in potentially devastating conditions.

18 Jan 2012

Two new studies focus on causes of arrhythmia and SCD

Researchers in Rhode Island Hospital's Cardiovascular Research Center have published two new studies focusing on the causes of arrhythmia and sudden cardiac death (SCD) when a genetic disorder is present.

18 Jan 2012

ViroPharma's NDS for Cinryze receives Health Canada's Priority Review status

ViroPharma Incorporated today announced that Health Canada has granted the company Priority Review status for its New Drug Submission (NDS) for Cinryze (C1 inhibitor [human]).

13 Jan 2012

Clinical trial to compare Aria's prenatal test and standard first-trimester screening for T21

Aria Diagnostics, a molecular diagnostics company, announced that it is initiating a blinded, multicenter clinical trial that compares its non-invasive prenatal test with the standard first-trimester screening test (serum screening and nuchal translucency ultrasound alone and in combination) to detect Trisomy 21, which is associated with Down syndrome.

13 Jan 2012

DNA decoder – cheaper and faster

Life Technologies Corp. – a biotechnology company announced Tuesday that it has developed a machine to decode an individual's DNA in a day for just $1,000. The company said it was taking orders for the technology, which it expects to deliver in about a year. The Carlsbad, California, company said three major research institutions had already signed up for the $149,000 machine: the Baylor College of Medicine, the Yale School of Medicine and the Broad Institute of Cambridge, Massachusetts.

11 Jan 2012

Aria's non-invasive test more effective in detecting Trisomy 18 & 21

Aria Diagnostics, a molecular diagnostics company, today announced publication of data supporting a directed, non-invasive approach to cell-free DNA (cfDNA) analysis in maternal blood for evaluation of two common fetal trisomies linked to genetic disorders.

10 Jan 2012

TRON uses Ingenuity Variant Analysis to identify cancer driver variants

Ingenuity Systems, a leading provider of information and analysis solutions for life science researchers, today announced that TRON has used Ingenuity Variant Analysis to identify cancer driver variants that inform the development of an experimental individualized RNA-based therapeutic.

9 Jan 2012

GSN completes $20M financing round

Gene Security Network Inc. (GSN) today announced the completion of a $20 million financing round, as well as the change of the company's name to Natera, Inc. The financing round was led by Lightspeed Venture Partners, which is joined in the current round by Claremont Creek Ventures and Sequoia Capital.

7 Jan 2012

Longer looks: The body's fight against losing weight; Rick Santorum's contraception, anti-abortion records analyzed

For years, the advice to the overweight and obese has been that we simply need to eat less and exercise more. While there is truth to this guidance, it fails to take into account that the human body continues to fight against weight loss long after dieting has stopped. ... it's clear, from a public-health standpoint, that resources would best be focused on preventing weight gain. The research underscores the urgency of national efforts to get children to exercise and eat healthful foods.

6 Jan 2012

Isis announces results from ISIS-TTRRx Phase 1 study on TTR amyloidosis

Isis Pharmaceuticals, Inc. announced today results from a Phase 1 study with ISIS-TTRRx. The results demonstrated that treatment with ISIS-TTRRx produced dose-dependent statistically significant reductions of greater than 80 percent in transthyretin (TTR) protein.

6 Jan 2012