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.

XJB-5-131 compound suppresses symptoms of Huntington's in mice

There's new hope in the fight against Huntington's disease. A group of researchers that includes scientists from the U.S. Department of Energy's Lawrence Berkeley National Laboratory (Berkeley Lab) have designed a compound that suppresses symptoms of the devastating disease in mice.

2 Nov 2012

Nitisinone treatment effectively prevents tyrosinemia in children

A consortium of Quebec researchers coordinated by the Medical Genetics Service of the Sainte-Justine UHC has just published the findings of a 25-year study on the treatment of tyrosinemia, a life-threatening liver disease of genetic origin, which is screened at birth in the province of Quebec, where it is much more frequent than anywhere else in the world.

1 Nov 2012

Chemists' innovation may be a better model for disease diagnostic kits

When someone develops liver cancer, the disease introduces a very subtle difference to their bloodstream, increasing the concentration of a particular molecule by just 10 parts per billion.

29 Oct 2012

UCI, Brown work advances quest for novel treatments for inherited disorder

UC Irvine and Brown University researchers have created a new fruit fly model of inherited epilepsy that's providing insights into the mechanisms underlying temperature-dependent seizures while establishing a platform from which to develop therapies for these disorders.

20 Oct 2012

New video on how to handle Malignant Hyperthermia crisis now available from MHAUS

New video on how to handle a Malignant Hyperthermia crisis is now available from the Malignant Hyperthermia Association of the United States.

20 Oct 2012

Maryland scientists create stem cell model for Gaucher disease

A new method of using adult stem cells as a model for the hereditary condition Gaucher disease could help accelerate the discovery of new, more effective therapies for this and other conditions such as Parkinson's, according to new research from the University of Maryland School of Medicine.

16 Oct 2012

RMND1 gene mutations responsible for severe neurodegenerative disorders

Scientists at the Montreal Neurological Institute and Hospital - The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.

10 Oct 2012

FDA clears Fenwal's new plasma products

Fenwal Inc., a global leader specializing in separation technologies for blood and cell collection and therapy, announced today it has received clearance from the U.S. Food and Drug Administration for two new indications for collection of plasma products on the Fenwal Alyx and Amicus systems.

8 Oct 2012

New understanding about functionality of CFTR protein

CFTR is an important protein that, when mutated, causes the life-threatening genetic disease cystic fibrosis. A study in The Journal of General Physiology (JGP) details how an accidental discovery has provided new understanding about CFTR functionality.

27 Sep 2012

Lonafarnib clinical trial for progeria has scientific roots in basic biology discoveries

The good news widely reported this morning of positive results from a clinical drug trial at Boston Children's Hospital for the previously "untreatable" rapid aging disorder in children known as progeria has its scientific roots in basic biology discoveries made in recent years.

26 Sep 2012

Lonafarnib proves effective for children with progeria

Results of the first-ever clinical drug trial for children with Progeria, a rare, fatal "rapid-aging" disease, demonstrate the efficacy of a farnesyltransferase inhibitor (FTI), a drug originally developed to treat cancer. The clinical trial results, completed only six years after scientists identified the cause of Progeria, included significant improvements in weight gain, bone structure and, most importantly, the cardiovascular system, according to The Progeria Research Foundation (PRF) and Boston Children's Hospital.

25 Sep 2012

Greenhouse-grown corn seeds could help treat lysosomal storage disease

The seeds of greenhouse-grown corn could hold the key to treating a rare, life-threatening childhood genetic disease, according to researchers from Simon Fraser University.

24 Sep 2012

New mouse models can help scientists study MCT8 deficiency

New mouse models can help scientists study MCT8 deficiency, an inherited genetic disorder affecting children, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.

21 Sep 2012

Study finds drug may aid some autism patients

An experimental drug can improve sociability in patients with fragile X syndrome and may be helpful as a treatment for autism, according to the authors of a new study.

21 Sep 2012

First Edition: September 20, 2012

Today's headlines include reports that the health law's penalty for not obtaining health insurance could hit as many as 6 million people.

21 Sep 2012

BGI Tech achieves whole exome sequencing analysis of total degraded DNA from FFPE samples

BGI Tech Solutions Co., Ltd., a subsidiary company of BGI, announced today that they have achieved whole exome sequencing analysis of total degraded DNA as low as 200 ng from formalin fixed paraffin embedded (FFPE) samples.

19 Sep 2012

Vitamin E may prevent cancer in patients with Cowden Syndrome

Cleveland Clinic researchers have discovered that vitamin E may prevent cancer in patients with an under-recognized genetic disorder.

18 Sep 2012

APS conference to explore potential mechanisms behind health benefits of exercise

The effects of physical inactivity are, literally, hazardous to your health. Although the detrimental effects of being inactive are generally thought to be associated with childhood obesity and Type 2 diabetes, they have a significant impact on other illnesses. Physical inactivity contributed at least 25 percent to the prevalence of hip fractures, osteoporosis, coronary heart disease, and colon cancer according to recent data released by the U.S. Department of Health and Human Services.

12 Sep 2012

Endocrine Society issues practice guideline for diagnosis and treatment of hypertriglyceridemia

The Endocrine Society today issued a Clinical Practice Guideline (CPG) for the diagnosis and treatment of hypertriglyceridemia. Triglycerides are a type of fat found in the blood and are associated with cardiovascular risk. The CPG, entitled "Evaluation and Treatment of Hypertriglyceridemia: An Endocrine Society Clinical Practice Guideline" appears in the September 2012 issue of the Journal of Clinical Endocrinology and Metabolism (JCEM), a publication of The Endocrine Society.

10 Sep 2012