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Latest Genetic disorder Stories

2011-02-08 04:00:00

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...

2011-02-03 20:37:48

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...

2011-01-29 00:02:16

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 people who wish to know more about how genetics...

2010-09-30 20:11:38

'RaDiCAL' approach to gene discovery opens doors to better understanding of human diversity and health Van 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 with three...

2010-08-31 12:58:48

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 Charit© Universitätsmedizin - Berlin have succeeded in using...

2010-07-13 02:29:15

Scientists combine new and classic approaches to discover rare disease gene By 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...

2010-07-13 02:27:38

Combination of genomic approaches leads to breakthrough Researchers 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...

2010-07-06 13:53:14

Study shows gene-environment interaction in congenital heart disease A 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...

2010-06-29 07:00:00

Online Knowledge Share Platform to Provide Valuable Information to Rare Disease Community DANA POINT, Calif., June 29 /PRNewswire-USNewswire/ -- Every parent needs a supportive, collaborative network full of information where medical professionals, researchers, patients, parents, advocates and the general public share knowledge about the rare childhood diseases that affect 22.5 million American families. RareSpace is an online knowledge sharing platform designed in partnership with...

2010-06-18 13:47:33

Combining new, whole-genome sequencing technology with classic genetic approaches to understanding inherited diseases, Duke University Medical Center geneticists and colleagues at Johns Hopkins have discovered two gene mutations that cause metachondromatosis, a rare, heritable disorder that leads to bony growths, typically on hands and feet. They did it by sequencing the entire genome of just one individual. Traditionally, rare inherited diseases (sometimes called "Mendelian" diseases,...


Word of the Day
mundungus
  • A stinking tobacco.
  • Offal; waste animal product; organic matter unfit for consumption.
This word comes from the Spanish 'mondongo,' tripe, entrails.