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Latest MECP2 Stories

2014-05-05 12:28:37

VANCOUVER, British Columbia, May 5, 2014 /PRNewswire-USNewswire/ -- A pediatric neurologist whose breakthrough research identified genetic mutations that cause Rett syndrome and many other neurological disorders will receive the 2014 March of Dimes Prize in Developmental Biology today. Huda Y. Zoghbi, M.D., director of the Jan and Dan Duncan Neurological Institute at Texas Children's Hospital, an investigator with the Howard Hughes Medical Institute, and a professor in the...

2014-04-30 09:46:46

In research published today in Molecular Psychiatry, a multinational team of scientists presents new evidence supporting the theory that in at least some cases of schizophrenia, autism and intellectual disability (ID), malfunctions in some of the same genes are contributing to pathology. The team, the product of an ongoing collaboration between Professors W. Richard McCombie of Cold Spring Harbor Laboratory (CSHL) and Aiden Corvin of Trinity College, Dublin, studied a type of gene...

2014-02-07 13:10:42

Report investigators in The Journal of Molecular Diagnostics Despite the identification of gene mutations in methyl CpG binding protein 2 (MECP2) being linked to Rett syndrome (RS), research has been hindered by the lack of commercially available reference materials. Through collaboration between the Centers for Disease Control and Prevention (CDC) and members of the clinical-laboratory and non-profit–research communities, 35 DNA samples containing many common RS genetic variants have...

2014-01-28 23:02:41

Continuing to expand the depth and breadth of high-impact research, the Rett Syndrome Research Trust (RSRT) awarded a record $7.2 million to new scientific explorations in 2013. Since RSRT’s inception five years ago, the organization has committed almost $20 million to novel research and basic science to decode and defeat Rett Syndrome. Trumbull, CT (PRWEB) January 28, 2014 Continuing to expand the depth and breadth of high-impact research, the Rett Syndrome Research Trust (RSRT)...

2014-01-28 12:29:40

-- Bird identified DNA regions where genes are activated, a fundamental contribution in the field of epigenetics, which studies how environmental factors influence diseases such as cancer MADRID, Jan. 28, 2014 /PRNewswire/ -- The sixth annual BBVA Foundation Frontiers of Knowledge Award in the Biomedicine category goes to British biochemist Adrian Bird, "for his discoveries in the field of epigenetics." Bird's achievements includes mapping DNA regions where genes are activated by...

2013-09-26 13:11:00

Sometimes, when the DNA in a cell is copied during cell division, there is a mistake. A large portion of the genetic material could be duplicated or deleted. In each instance, there is often a greatly enhanced potential for serious genetic disease. Such changes are known as copy number variation (CNV) referring to the numbers of copies of a gene. Instead of ‘letters of the DNA alphabet’ being changed or missing, whole sentences, entire paragraphs or even pages/volumes of the encyclopedia...

2013-08-21 13:02:26

The concept behind gene therapy is simple: deliver a healthy gene to compensate for one that is mutated. New research published today in the Journal of Neuroscience suggests this approach may eventually be a feasible option to treat Rett Syndrome, the most disabling of the autism spectrum disorders. Gail Mandel, Ph.D., a Howard Hughes Investigator at Oregon Health and Sciences University, led the study. The Rett Syndrome Research Trust, with generous support from the Rett Syndrome Research...

2013-07-29 16:35:29

Statins, a class of cholesterol-lowering drugs found in millions of medicine cabinets, may help treat Rett Syndrome, according to a study published today in Nature Genetics. The Rett Syndrome Research Trust (RSRT) funded this work with generous support from the Rett Syndrome Research Trust UK and Rett Syndrome Research & Treatment Foundation. Rett Syndrome is a neurological disorder that affects girls. A seemingly typical toddler begins to miss developmental milestones. A regression...

2013-07-02 23:26:17

Panel Discussion with Institute of Medicine President, Leading Rett Scientist, Filmmaker and Disease Advocate Washington, D.C. (PRWEB) July 02, 2013 Rett Syndrome, a woman’s disease most women have never heard of, will be the focus of a documentary film screening and panel discussion. The award-winning film RETT: THERE IS HOPE, which showcases the struggles of families living with Rett Syndrome, an autism spectrum disorder that strikes toddler girls, will hold its Washington, D.C....


Word of the Day
mallemaroking
  • Nautical, the visiting and carousing of sailors in the Greenland ships.
This word is apparently from a confusion of two similar Dutch words: 'mallemerok,' a foolish woman, and 'mallemok,' a name for some persons among the crew of a whaling vessel.