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Latest Genodermatoses Stories

2012-09-26 13:11:29

ASCB posts background on basic biology discoveries behind Boston Children's clinical trial reporting significant slowing of rare rapid aging disorder in children 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. A paper published Monday in the Proceedings of...

2012-09-17 14:12:31

A Chinese research team, led by Anhui Medical University and BGI, has found the strong genetic evidences of mevalonate kinase gene (MVK) mutations link to disseminated superficial actinic porokeratosis (DSAP). It is a major step toward discovering the genetic pathogenesis of DSAP, and sheds an eye-opening insight into its further molecular diagnosis and treatment. The latest study was published online in Nature Genetics. DSAP is a rare, non-cancerous, non-contagious skin disorder that...

Could Learning Disabilities In Some Kids Be Prevented With Cancer Drug?
2012-08-29 11:01:08

U-M scientists stop abnormal brain cell growth in mice with neurofibromatosis using experimental tumor drug, make new discoveries in neural stem cells A drug originally developed to stop cancerous tumors may hold the potential to prevent abnormal brain cell growth and learning disabilities in some children, if they can be diagnosed early enough, a new animal study suggests. The surprising finding sets the stage for more research on how anti-tumor medication might be used to protect the...

2012-08-15 23:01:29

Neurofibromatosis advocates Mark Bornfeld, Catriona Miller, and Sheila Heal recently participated in the evaluation of research applications submitted to the Neurofibromatosis Research Program (NFRP) sponsored by the Department of Defense. They were nominated for participation in the program by Advocure NF2. As a consumer reviewer, they are full voting members, along with prominent scientists, at meetings to help determine how the $12.8 million appropriated by Congress for Fiscal Year...

2012-05-10 22:25:22

History, science and discovery come together to help family members C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in 1969. This is what a study in the April issue of The American Journal of Human Genetics reveals. The study was conducted by researchers from the Sainte-Justine University Hospital Research Center and the...


Word of the Day
glogg
  • Scandinavian punch made of claret and aquavit with spices and raisins and orange peel and sugar.
This word comes from the Swedish 'glogg,' which is an alteration of 'glodgat,' mulled (wine).
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