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Latest Medical genetics Stories

2012-07-30 12:49:50

Alternating hemiplegia of childhood (AHC) is a very rare disorder that causes paralysis that freezes one side of the body and then the other in devastating bouts that arise at unpredictable intervals. Seizures, learning disabilities and difficulty walking are common among patients with this diagnosis. Researchers at Duke University Medical Center have now discovered that mutations in one gene cause the disease in the majority of patients with a diagnosis of AHC, and because of the root...

European Agency Recommends Gene Therapy Approval
2012-07-21 08:56:42

redOrbit Staff & Wire Reports - Your Universe Online A European Union agency for the evaluation of medicinal products is recommending the approval of a gene therapy treatment for a rare disease, which would be the first time a treatment of this kind has received the regulatory go-ahead for use in the West, according to various reports published Friday. A statement released by the European Medicines Agency (EMA) Committee for Medicinal Products for Human Use (CHMP) officially...

Susceptibility Genes Can Be Revealed From Exome Sequencing Of Health Condition Extremes
2012-07-09 10:55:33

DNA from cystic fibrosis patients with and without chronic infections points to unsuspected mutation Comparing the DNA from patients at the best and worst extremes of a health condition can reveal genes for resistance and susceptibility. This approach discovered rare variations in the DCTN4 gene among cystic fibrosis patients most prone to early, chronic airway infections. The DCTN4 gene codes for dynactin 4. This protein is a component of a molecular motor that moves trouble-making...

2012-06-28 12:58:38

In a genome-wide association (GWA) study, researchers from Boston University Schools of Medicine (BUSM) and Public Health (BUSPH) have identified several genes which influence degeneration of the hippocampus, the part of the brain most associated with Alzheimer disease (AD). The study, which currently appears online as a Rapid Communication in the Annals of Neurology, demonstrates the efficacy of endophenotypes for broadening the understanding of the genetic basis of and pathways leading to...

2012-06-27 17:43:19

An international team led by human genetic researchers at the University of British Columbia and Vancouver Coastal Health has identified the latest gene associated with typical late-onset Lewy body Parkinson's disease (PD), with the help of a Canadian Mennonite family of Dutch-German-Russian ancestry. Twelve of the 57 members of the Saskatchewan family who participated in the study had previously been diagnosed with PD. UBC Medical Genetics Prof. Matthew Farrer, who led the research,...

Zebrafish Used In Autism Research
2012-06-20 06:10:52

Connie K. Ho for redOrbit.com Apes and humans are thought to be intertwined in evolutionary theory, but how about fish and humans? A new study utilized zebrafish in a study regarding human brain disorders. In particular, Massachusetts Institute of Technology (MIT) researchers recently revealed that they took a fresh approach to understanding the roles of genes linked to autism and demonstrated how zebrafish could be utilized in examining the genes that contribute to human brain disorders....


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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