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.

EMA CHMP adopts positive opinion for Soliris to treat atypical hemolytic uremic syndrome

Alexion Pharmaceuticals, Inc. today announced that the European Committee for Medicinal Products for Human Use (CHMP) has adopted a positive opinion recommending that the therapeutic indication for Soliris® (eculizumab) be extended to include the treatment of pediatric and adult patients with atypical hemolytic uremic syndrome (aHUS) in Europe.

23 Sep 2011

Cedars-Sinai inaugurates new facility to generate induced pluripotent stem cells

The Cedars-Sinai Regenerative Medicine Institute has opened a new Induced Pluripotent Stem Cell (iPSC) Core Facility to produce powerful cells capable of making all tissues of the body from adult human skin cells.

23 Sep 2011

AGTC receives FFB grant to evaluate gene therapy treatment for X-linked Retinoschisis

Applied Genetic Technologies Corporation, a privately-held, clinical stage biotechnology company developing novel systems to deliver human therapeutics, announces that it has received a grant of $1.5 million from the Foundation Fighting Blindness to fund a pre-clinical trial evaluating the safety and efficacy of a gene therapy treatment for X-linked Retinoschisis (XLRS), a genetic eye disease affecting over 35,000 patients in the US and Europe.

22 Sep 2011

First ever domino liver transplant

For the first time ever, a surgical team led by Alan Hemming, MD, has successfully performed a domino transplant using a liver with a rare genetic disorder called methylmalonic acidemia.

22 Sep 2011

Regular exercise also increases mitochondrial numbers in brain cells

Researchers have long known that regular exercise increases the number of organelles called mitochondria in muscle cells. Since mitochondria are responsible for generating energy, this numerical boost is thought to underlie many of the positive physical effects of exercise, such as increased strength or endurance. Exercise also has a number of positive mental effects, such as relieving depression and improving memory.

20 Sep 2011

Landmark international study confirms common genetic contribution to mental illness

An international research consortium has confirmed that common genetic variants contribute to a person’s risk of schizophrenia and bipolar disorder. The largest study of its kind provides new molecular evidence that 11 regions have strong association with these diseases, including six regions not previously observed. The researchers also found that many of these DNA variations contribute to both diseases. The findings, reported by the Psychiatric Genome-Wide Association Study Consortium (PGC) and published online in two papers in the journal Nature Genetics, represent significant advances in the understanding the causes of these severe and often debilitating disorders.

18 Sep 2011

Scientists uncover unknown fail-safe pathway for inherited disorders

Scientists at the University of California, San Diego School of Medicine have uncovered a previously unknown fail-safe (compensatory) pathway that potentially protects the brain and other organs from genetic and environmental threats.

16 Sep 2011

Health Canada approves Afinitor for treatment of brain tumours caused by TSC in children

Families with children suffering from brain tumours caused by an uncommon genetic disorder known as Tuberous Sclerosis Complex (TSC) have new hope with Health Canada's recent conditional approval of a new therapeutic use for the drug Afinitor (everolimus). Afinitor is the first drug therapy approved in Canada for the treatment of brain tumours caused by TSC in patients three years of age and older.

14 Sep 2011

ViroPharma initiates Cinryze Phase 2 subcutaneous trial in patients with HAE

ViroPharma Incorporated and Halozyme Therapeutics announced today that ViroPharma has initiated an open-label, multi-dose Phase 2 study to evaluate the safety, and pharmacokinetics and pharmacodynamics of subcutaneous administration of Cinryze in combination with Halozyme's Enhanze technology, a proprietary drug delivery platform using Halozyme's recombinant human hyaluronidase enzyme, in subjects with hereditary angioedema.

14 Sep 2011

Roche initiates Phase 1 clinical trial of investigational drug for Down syndrome

Roche today announced the initiation of its first Phase 1 clinical trial to investigate the safety and tolerability of a molecule designed to address the cognitive and behavioral deficits associated with Down syndrome.

12 Sep 2011

New treatment strategy for dominant forms of muscular dystrophy

Investigators at The Research Institute at Nationwide Children's Hospital are studying a potential new treatment strategy for dominant forms of muscular dystrophy, thanks to preliminary funding from The Ohio State University Center for Clinical and Translational Science.

12 Sep 2011

London scientist hopes to improve diagnosis for Jeune syndrome

A London scientist is hoping a new study funded by children's charity Action Medical Research, will help to improve diagnosis and work towards new treatments for a rare, incurable genetic disorder called Jeune syndrome.

7 Sep 2011

New blood test could help identify babies at risk of sickle cell disease

A new blood test is being developed by researchers in Cambridge and Oxford, which, for the first time, could help identify babies at risk of a severe form of sickle cell disease, allowing immediate and more intensive treatment to be given, thanks to a grant from children's charity Action Medical Research.

7 Sep 2011

Robert Gordon University scientists to develop new treatment for cystinosis

A team of researchers at Robert Gordon University has secured a six figure sum from Sparks, a leading children’s medical research charity, to develop a revolutionary treatment for a rare genetic disorder.

6 Sep 2011

PTC restructures collaboration with Genzyme

PTC Therapeutics, Inc. and Genzyme, a Sanofi company, announced today the restructuring of their collaboration. Under the original agreement, PTC held commercial rights for the U.S. and Canada and Genzyme held commercial rights in all other countries.

2 Sep 2011

Insight into molecular basis of Enhanced S-Cone Syndrome

A new research report published in The FASEB Journal will help ophthalmologists and scientists better understand a rare genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision called Enhanced S-Cone Syndrome or Goldman-Favre Syndrome.

2 Sep 2011

CIRM approves stem cell research planning grants for five UC Davis teams

The California Institute for Regenerative Medicine (CIRM), the state stem cell agency, today approved research planning grants for five UC Davis Health System teams that are working to develop human clinical trials to treat illnesses such as Huntington's disease, vascular disease, osteoporosis, HIV/AIDS and airway disease in children.

29 Aug 2011

Severe combined immunodeficiency treated successfully with gene therapy

Gene therapy can offer a cure for a rare condition that causes children’s immune systems to fail. In this rare condition, known as Severe Combined Immunodeficiency (SCID), inherited genetic mutations mean that babies are unable to fight off infection, severely limiting their chances of surviving more than a few years. Severe combined immunodeficiency (SCID) is a rare genetic disorder estimated to affect between 1 in 200,000 and 1 in 1,000,000 live births

26 Aug 2011

Shire receives FDA marketing approval for FIRAZYR to treat acute attacks of HAE

Shire plc, the global specialty biopharmaceutical company, today announced that the U.S. Food and Drug Administration (FDA) has granted marketing approval for FIRAZYR for treatment of acute attacks of hereditary angioedema (HAE) in adults 18 years of age and older.

26 Aug 2011