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.

EC extends therapeutic indication for Soliris to treat atypical hemolytic uremic syndrome

Alexion Pharmaceuticals, Inc. today announced that the European Commission (EC) has extended the therapeutic indication for Soliris® (eculizumab) to include the treatment of pediatric and adult patients with atypical hemolytic uremic syndrome (aHUS).

29 Nov 2011

Critical breakthrough in development of treatment for Duchenne Muscular Dystrophy

Academics from Royal Holloway, University of London and a team lead by scientists at the UCL Institute of Child Health (ICH), have made an important breakthrough in the development of a treatment for Duchenne Muscular Dystrophy (DMD) which in the future could help the likes of the Lloyd family who were featured on last night's X-Factor show.

29 Nov 2011

New database for scientists researching fission yeast

A new database promises to be an invaluable resource to scientists who use a unique single-celled fungus to study human diseases.

29 Nov 2011

Scientists identify MEGF10 defective gene responsible for muscle weakness

An international team of researchers from England and the Charité - Universitätsmedizin Berlin has presented new findings regarding the function of muscle stem cells, which are published in the current issue of the journal Nature Genetics.

23 Nov 2011

Targeting synthetic RNA to specific gene could help reduce severity of SMA

A team of University of Missouri researchers have found that targeting a synthetic molecule to a specific gene could help the severity of the disease Spinal Muscular Atrophy (SMA) - the leading genetic cause of infantile death in the world.

22 Nov 2011

Almac collaborates with Alexion for packaging and distribution of Soliris during German E. coli outbreak

Almac, a leading provider of contract services to the global pharmaceutical and biotech industries, responded earlier this year to an urgent request from their client partner, Alexion Pharmaceuticals, Inc., a global biotechnology company, for packaging and distribution of Soliris (eculizumab) for patients with STEC-HUS during the E. coli outbreak in Germany earlier this year.

21 Nov 2011

Researchers discover more about function of muscle stem cells

An international team of researchers from Leeds, London and Berlin has discovered more about the function of muscle stem cells, thanks to next-generation DNA sequencing techniques.

20 Nov 2011

EC approves Pfizer's Vyndaqel to treat Transthyretin Familial Amyloid Polyneuropathy

Pfizer announced today that the European Commission has approved Vyndaqel (tafamidis) for the treatment of Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) in adult patients with stage 1 symptomatic polyneuropathy.

17 Nov 2011

CF Foundation, Genzyme announce new drug research agreement

Genzyme, a Sanofi company, and Cystic Fibrosis Foundation Therapeutics Inc., the nonprofit affiliate of the Cystic Fibrosis Foundation, today announced a research agreement to support the discovery of new drugs to treat people with the most common mutation found in patients with CF, Delta F508.

17 Nov 2011

Public health officials should address needs of people with blood disorders

Public health should focus not only on reducing the burden of common diseases but also address the needs of people with blood disorders , experts say in a supplement to December's American Journal of Preventive Medicine.

16 Nov 2011

Children can have successful surgical repairs for hollow or sunken chest

Hollow or sunken chest, the most common congenital deformity of the chest wall affecting one in 300 to one in 400 children, is rarely life-threatening and virtually all children can have successful surgical repairs.

11 Nov 2011

New genetic approach to treat fibrodysplasia ossificans progressiva

Scientists at Penn's Perelman School of Medicine Center for Research in FOP and Related Disorders have developed a new genetic approach to specifically block the damaged copy of the gene for a rare bone disease, while leaving the normal copy untouched.

9 Nov 2011

Treatments can help most HCM patients

Most of the 600,000 Americans with hypertrophic cardiomyopathy (HCM) -- a genetic heart muscle disease -- can live normal life spans, according to the first science-based guideline for diagnosing and treating this disorder.

9 Nov 2011

Novel mathematical method reveals genetic distinction between individuals

At a time when profound gaps remain in our understanding of how one person's genes differ from another person's, developing accurate methods to interpret the human genome is essential to uncover population history, population relationships and the genetic basis of some of the most common diseases affecting society.

9 Nov 2011

NanoString closes $20M Series D round of equity financing

NanoString Technologies, Inc., a privately held provider of life science tools for translational research and developer of molecular diagnostics, today announced that it has closed $20 million in a Series D round of equity financing.

From NanoString Technologies 7 Nov 2011

Cystic fibrosis drug shows promise in trial

The latest clinical trial in its later advanced stags found that oral drug ivacaftor (VX-77) provides major, sustained improvement in lung function, growth and other signs and symptoms for a subset of cystic fibrosis patients.

6 Nov 2011

Gene therapy and stem cell transplantation successfully reverse hemophilia A

For the first time, researchers have combined gene therapy and stem cell transplantation to successfully reverse the severe, crippling bleeding disorder hemophilia A in large animals, opening the door to the development of new therapies for human patients.

3 Nov 2011

Aspirin may reduce risk of bowel cancer by half: Study

According to a new study published in The Lancet, a regular dose of aspirin may not only stave off heart disease but also cut the risk of developing hereditary cancer in half.

31 Oct 2011

Researchers identify FMRP protein as key player in RNA editing

The most common form of heritable cognitive impairment is Fragile X Syndrome, caused by mutation or malfunction of the FMR1 gene. Loss of FMR1 function is also the most common genetic cause of autism. Understanding how this gene works is vital to finding new treatments to help Fragile X patients and others.

31 Oct 2011