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 provides new information on why A-T disease attacks the brain

Rutgers scientists think they have found a way to prevent and possibly reverse the most debilitating symptoms of a rare, progressive childhood degenerative disease that leaves children with slurred speech, unable to walk, and in a wheelchair before they reach adolescence.

2 Apr 2012

TRIM28 protein essential after fertilisation to preserve epigenetic marks on imprinted genes

An international team led by scientists at A*STAR's Institute of Medical Biology (IMB) discovered that a protein, called TRIM28, normally present in the mother's egg, is essential right after fertilisation, to preserve certain chemical modifications or 'epigenetic marks' on a specific set of genes.

30 Mar 2012

Federal Court refuses to reconsider bone marrow donor payments

According to a federal appeals court it would not reconsider a ruling that allows bone marrow donors to be paid for their donations like blood donors.

29 Mar 2012

Greenwood launches Syndromic Autism 62-Gene Panel

RainDance Technologies, Inc., the Digital Biology Company, today announced that Greenwood Genetic Center has commercially launched its Syndromic Autism 62-Gene Panel which was built for use on RainDance's picodroplet-based targeted sequencing platform.

29 Mar 2012

Broad Institute, Novartis develop cancer cell line encyclopedia

Novartis and the Broad Institute have developed a cancer cell line encyclopedia that catalogues the genetic and molecular profiles of almost 1,000 human cancer cell lines used in drug research and development. Results of the collaboration, published in the journal Nature and released in advance online today, may allow scientists around the world to use this information to improve cancer clinical trial design and further cancer research.

29 Mar 2012

EMA grants orphan designations to Ultragenyx UX001, UX003 for treatment of HIBM and MPS 7

Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the European Medicines Agency (EMA) has granted orphan drug designations for sialic acid for the treatment of hereditary inclusion body myopathy (HIBM) and recombinant human beta-glucuronidase for the treatment of mucopolysaccharidosis type 7.

29 Mar 2012

Gene therapy improves chylomicron metabolism in LPLD patients

Amsterdam Molecular Therapeutics, a leader in the field of human gene therapy, announced today data demonstrating that one-time administration of the gene therapy Glybera (alipogene tiparvovec) is able to markedly improve chylomicron (fat particles in the blood) metabolism following consumption of a low fat meal.

29 Mar 2012

Study examines link between lab-tested drugs and defective protein that causes CF

Cystic fibrosis is the most common fatal genetic disease affecting Canadian children and young adults, more than two children each and every week are diagnosed with cystic fibrosis (CF). New research at Ryerson University, in partnership with The Hospital for Sick Children, is examining the interaction between lab-tested drugs and the defective protein that causes CF to understand how and why the drugs work and to create stronger, more powerful second generation drugs to treat CF.

28 Mar 2012

CRG, Illumina partner for large-scale analysis of genetic variation and function

The Centre for Genomic Regulation (CRG) has recently signed a year-long collaboration agreement with Illumina, a leading developer and manufacturer of life sciences tools and integrated systems for large-scale analysis of genetic variation and function.

From Illumina, Inc. 28 Mar 2012

Experimental drugs from Sanofi and Regenron cut cholesterol in a new way

An experimental drug that acts in a novel way to lower cholesterol proved even more effective than statins and had few undesirable side effects, newly released data shows. The drug acts by modifying the way cholesterol levels are naturally controlled. A protein produced in the liver helps limit the amount of LDL, or “bad” cholesterol, that liver cells can remove from the bloodstream. The new drug, called REGN727, is a monoclonal antibody, made in a laboratory, that blocks the action of that protein.

27 Mar 2012

Positive results from Amgen's AMG 145 Phase 1b study on patients with LDL-C

Amgen announced today positive results from a Phase 1b clinical study of AMG 145, an investigational PCSK9 inhibitor, in patients with high cholesterol who were taking statins. The study demonstrated that multiple doses of AMG 145 significantly reduced serum low density lipoprotein cholesterol (LDL-C), also known as "bad" cholesterol, by up to 81 percent versus placebo (maximum reduction) in subjects on low to moderate doses of statins/

26 Mar 2012

New cholesterol lowering drugs on the horizon

The new drugs in development by pharmaceutical makers are injectable medications that block a protein called PCSK9. These drugs have shown promise in early clinical trials for slashing bad LDL cholesterol further than widely used statins can alone. Their biggest advocates say PCSK9 blockers have the potential to be the next multibillion-dollar class of heart drugs.

25 Mar 2012

Drexel experts available to comment for news stories about autism

Experts at Drexel University are available to comment for news stories about autism for Autism Awareness Month in April. Drexel recently established the A.J. Drexel Autism Institute, the nation's first autism center focused on public health science.

22 Mar 2012

Scans reveal Williams syndrome-associated personality/temperament traits

A personality profile marked by overly gregarious yet anxious behavior is rooted in abnormal development of a circuit hub buried deep in the front center of the brain, say scientists at the National Institutes of Health. They used three different types of brain imaging to pinpoint the suspect brain area in people with Williams syndrome, a rare genetic disorder characterized by these behaviors.

21 Mar 2012

New three-step process for DMD newborn screening

Investigators at Nationwide Children's Hospital, working with the DNA Sequencing Core Facility at the University of Utah, have developed an approach to newborn screening (NBS) for the life-threatening genetic disorder, Duchenne muscular dystrophy (DMD) and potentially other muscular dystrophies.

20 Mar 2012

Combination therapy may improve life span and motor function of infants with Batten disease

Infants with Batten disease, a rare but fatal neurological disorder, appear healthy at birth. But within a few short years, the illness takes a heavy toll, leaving children blind, speechless and paralyzed. Most die by age 5.

16 Mar 2012

New research could provide roadmap for more effective drug discovery for CF

A recent study led by Gergely Lukacs, a professor at McGill University's Faculty of Medicine, Department of Physiology, and published in the January issue of Cell, has shown that restoring normal function to the mutant gene product responsible for cystic fibrosis (CF) requires correcting two distinct structural defects. This finding could point to more effective therapeutic strategies for CF in the future.

12 Mar 2012

Ultragenyx completes UX001 Phase 1 study on hereditary inclusion body myopathy

Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the Phase 1 study of UX001 for hereditary inclusion body myopathy (HIBM) has been completed.

9 Mar 2012

Measuring wellbeing in Huntington’s disease

The new tool, the first Huntington’s disease-specific quality of life instrument of its kind, aims to fully capture the impact of this complex disease on the everyday life of sufferers. By using this new tool to more accurately measure the impact of Huntington’s and also any effect of therapeutic interventions, scientists will be in a better position to evaluate the usefulness of interventions on patients’ everyday quality of life to see if there is actually a practical benefit. It is hoped that in this way, this tool will lead to more effective treatments.

8 Mar 2012

Doctors identify promising new treatment for hypophosphatasia

Doctors at Washington University School of Medicine in St. Louis, working with Shriners Hospital for Children and other institutions, have identified a promising new treatment for a rare and sometimes life-threatening bone disorder that can affect infants and young children.

8 Mar 2012