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.

Link between skeletal development and Fraser syndrome deafness in mammals

Using mutant zebra fish, researchers studying the earliest formation of cartilage of the mouth believe they may have gotten a look at a mechanism involved in a genetic defect linked to Fraser syndrome deafness in humans.

1 Aug 2012

OrPro to advance development of ORP-100 for treatment of cystic fibrosis

OrPro Therapeutics, Inc. today announced that the company has been awarded a National Heart, Lung and Blood Institute Small Business Innovation Research (SBIR) grant from the National Institutes of Health (NIH).

31 Jul 2012

EC approves Vertex's KALYDECO for treatment of cystic fibrosis

Vertex Pharmaceuticals Incorporated announced today that the European Commission has approved KALYDECOTM (ivacaftor) for people with cystic fibrosis (CF) ages 6 and older who have at least one copy of the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

28 Jul 2012

Myotonia less important to patients with myotonic dystrophy than other symptoms

Complex, multi-system diseases like myotonic dystrophy - the most common adult form of muscular dystrophy - require physicians and patients to identify which symptoms impact quality of life and, consequently, what treatments should take priority. However, a new study out this month in the journal Neurology reveals that there is often a disconnect between the two groups over which symptoms are more important, a phenomenon that not only impacts care but also the direction of research into new therapies.

26 Jul 2012

AAQ chemical temporarily restores vision in blind mice

A team of University of California, Berkeley, scientists in collaboration with researchers at the University of Munich and University of Washington in Seattle has discovered a chemical that temporarily restores some vision to blind mice, and is working on an improved compound that may someday allow people with degenerative blindness to see again.

26 Jul 2012

bluebird bio completes $60 million Series D financing

bluebird bio, a leader in the development of innovative gene therapies for severe genetic disorders, today announced the successful completion of a $60 million Series D financing. In this round, new investors Deerfield Partners, RA Capital, Ramius Capital Group, and two undisclosed blue chip public investment funds joined existing investors ARCH Venture Partners, Third Rock Ventures, TVM Capital, and Forbion Capital Partners. In addition, Shire plc joined the round as a strategic investor.

25 Jul 2012

Alexion second quarter net product sales increase to $274.7 million

Alexion Pharmaceuticals, Inc. today announced financial results for the three and six months ended June 30, 2012.

25 Jul 2012

Many patients may benefit from day 5 embryo biopsy

Over the last several years Carolina Conceptions has been offering embryo biopsy to rule out chromosomal abnormalities and genetic diseases in future pregnancies. One of the downsides of the technique was that biopsies were performed after 3 days of embryo culture, which was later discovered to limit the ability of the embryo to undergo normal development. This actually reduced the chance of pregnancy, often erasing any advantage that was provided by the biopsy procedure.

21 Jul 2012

uniQure receives positive recommendation from EMA CHMP for Glybera

uniQure announced today that the European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion that recommends marketing authorization of Glybera (alipogene tiparvovec) as a treatment for lipoprotein lipase deficiency (LPLD) under exceptional circumstances.

21 Jul 2012

Memantine boosts memory function in people with Down syndrome

Researchers at the University of Colorado School of Medicine have found a drug that boosts memory function in those with Down syndrome, a major milestone in the treatment of this genetic disorder that could significantly improve quality of life.

18 Jul 2012

Emmaus receives EC Orphan Medicinal Product designation for Levoglutamide

Emmaus Medical, Inc., a specialty pharmaceutical and regenerative medicine technology company, and subsidiary of Emmaus Life Sciences, Inc., today announced that the European Commission (EC) has granted Orphan Medicinal Product designation for the company's investigational drug Levoglutamide (L-glutamine) for the treatment of sickle cell disease.

18 Jul 2012

Introducing missing gene could help extend lives of patients with SMA

A team of University of Missouri researchers has found that introducing a missing gene into the central nervous system could help extend the lives of patients with Spinal Muscular Atrophy (SMA) - the leading genetic cause of infantile death in the world.

17 Jul 2012

Positive results from Alnylam’s ALN-TTR02 Phase I trial on TTR-mediated amyloidosis

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today the achievement of positive clinical results from its Phase I trial with ALN-TTR02, an RNAi therapeutic targeting the transthyretin (TTR) gene for the treatment of TTR-mediated amyloidosis.

16 Jul 2012

Migraine involves multiple symptoms that vary widely among sufferers

Almost everyone suffers from headache pain occasionally, but for 36 million Americans, intense, debilitating headaches accompanied by other neurological symptoms — also known as migraine syndrome — are a source of physical misery that can have a devastating effect on their quality of life. It is estimated that the medical expenses and loss of productivity caused by migraine costs Americans $20 billion annually.

14 Jul 2012

Communication between brain and muscle cells is short-lived without LRP4 protein

Communication between the brain and muscle must be strong for us to eat, breathe or walk. Now scientists have found that a protein known to be on the surface of muscle cells must be present in both tissues to ensure the conversation is robust.

12 Jul 2012

Cochlear implants work well for Waardenburg children

Children with Waardenburg syndrome respond well to cochlear implantation and achieve equally good speech and hearing outcomes as nonsyndromic children undergoing the same procedure, report researchers.

11 Jul 2012

Study details development of first mouse model for Usher syndrome III

A new study published in the July 11 issue of the Journal of Neuroscience details the development of the first mouse model engineered to carry the most common mutation in Usher syndrome III causative gene (Clarin-1) in North America.

11 Jul 2012

MiR-33 plays a key role in regulating bile metabolism

In research funded by the National Institutes of Health and the American Heart Association and published in EMBO Molecular Medicine, Saint Louis University investigator -ngel Bald-n, Ph.D., found that the microRNA miR-33 plays a key role in regulating bile metabolism. Further, the research suggests that, in an animal model, the manipulation of this microRNA can improve the liver toxicity that can be caused by statins.

10 Jul 2012

Disabling Nf1 gene makes stem cells from the third ventricle proliferate rapidly

Scientists showed in mice that disabling a gene linked to a common pediatric tumor disorder, neurofibromatosis type 1 (NF1), made stem cells from one part of the brain proliferate rapidly. But the same genetic deficit had no effect on stem cells from another brain region.

10 Jul 2012

Novel gene therapy approach may treat dysferlinopathies

The challenge of treating patients with genetic disorders in which a single mutated gene is simply too large to be replaced using traditional gene therapy techniques may soon be a thing of the past. A Nationwide Children's Hospital study describes a new gene therapy approach capable of delivering full-length versions of large genes and improving skeletal muscle function. The strategy may hold new hope for treating dysferlinopathies and other muscular dystrophies.

9 Jul 2012