Latest Genetic disorder Stories

Geneticists unveil workings of 3 genes that control cell development and growthBy working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many disorders such as foetal and childhood growth retardation, abnormal development of body parts and cancer. "As a result of the Human Genome Project, we know the basic identity of essentially...

95 Percent of Rare Diseases Have No Approved Drug Treatments; Treat46le T-shirt Honors Millions of Rare Disease Patients Living With Little Hope NEW YORK, Feb. 28, 2011 /PRNewswire-USNewswire/ -- Wear That You Care(TM). Today is Rare Disease Day and 46NYC (www.46nyc.com) is helping raise awareness for an important cause - this time the drug development crisis facing the rare disease patient community worldwide. The New York-based clothing company has teamed up with the Global Genes Project...

DANA POINT, Calif., Feb. 8, 2011 /PRNewswire/ -- February 28, 2011, is Rare Disease Day, but at the Global Genes Project, it's rare disease awareness day every day of the year. Leading up to Rare Disease Day 2011, the Global Genes Project will be calling attention to the lack of drug treatments available for millions of people suffering from chronic, life-threatening and fatal rare diseases through its 7,000 Bracelets for Hope(TM) and Wear That You Care(TM) awareness campaigns. The 7000...

A new study takes advantage of genetic similarities between mammals and fruit flies by coupling a complex genetic screening technique in humans with functional validation of the results in flies. The new strategy, published by Cell Press on February 3rd in The American Journal of Human Genetics, has the potential to be an effective approach for unraveling genetically complex human disorders and providing valuable insights into human disease.Genome-wide association studies (GWASs) involve...

As scientists continue to crack codes of genetic diseases, http://www.KnowYourGenes.org provides a resource for adults and parents-to-be to help understand what those advances mean. The site includes "Genetic Testing & Pregnancy," "Know Your Family History," "What is Genetic Testing," "Genes 101," and more. New York, NY (PRWEB) January 27, 2011 The Genetic Disease Foundation (GDF) has launched KnowYourGenes.org, a new online resource for...

'RaDiCAL' approach to gene discovery opens doors to better understanding of human diversity and healthVan Den Ende-Gupta syndrome (VDEGS) is an extremely rare genetic disorder that is characterized by distinctive head and facial features, such as unusual eyelids, narrow and beaked noses, flat nasal bridges, jaw deformities, and a turned out lower lip. As part of McGill's "RaDiCAL" project (Rare Disease Consortium for Autosomal Loci), collaborators in Qatar conducted field research...

The majority of rare diseases are hereditary. But despite significant progress in genome research, in most cases their exact cause remains unclear. The discovery of the underlying genetic defect is, however, a prerequisite for their definitive diagnosis and the development of innovative approaches to their treatment. Scientists at the Max Planck Institute for Molecular Genetics and the Institute of Medical Genetics at the Charité Universitätsmedizin - Berlin have succeeded in using a...

Scientists combine new and classic approaches to discover rare disease geneBy inspecting the sequence of all 3 billion "letters" that make up the genome of a single person affected with a rare, inherited disorder, a Johns Hopkins and Duke University team ferreted out the single genetic mutation that accounts for the disease.Reporting their results in the June 17 issue of PLoS Genetics, the team says an altered version of the gene PTPN11 is the cause of metachondromatosis, a disorder...

Combination of genomic approaches leads to breakthroughResearchers have identified a gene mutation that causes a rare form of hearing loss known as auditory neuropathy, according to U-M Medical School scientists.In the study published online today in the Proceedings of the National Academy of Sciences USA, U-M's Marci Lesperance, M.D., and Margit Burmeister, Ph.D. led a team of researchers who examined the DNA of individuals from the same large family afflicted with the disorder.The...

Study shows gene-environment interaction in congenital heart diseaseA pregnant mother's diet may be able to interact with the genes her unborn child inherits and influence the type or severity of birth defect according to research funded by the Wellcome Trust and the British Heart Foundation (BHF). The study, published in the journal Human Molecular Genetics, suggests that mothers who eat a high fat diet before and through pregnancy could be inadvertently putting the health of their offspring...