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Latest Medical genetics Stories

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....

Fetal Genome Mapped Through Maternal-Paternal DNA
2012-06-07 10:34:23

Scientists have successfully sequenced the genome of a fetus after taking a blood sample from a woman who was 18 weeks pregnant, and a swab of saliva from the father -- a move that could play a significant role in the screening of rare disorders before the child is even born. The research, published in the journal Science Translational Medicine, is not the first study to have shown a fetal genome can be glimpsed with a sample of the mother´s blood, but does offer a more accurate...

2012-06-01 23:03:46

World-renowned Professionals Connect with Families July 6 — 10th in Orlando to Discuss Cutting-edge Trends & Treatments Matawan, NJ (PRWEB) June 01, 2012 The International 22q11.2 Foundation Inc., an organization dedicated to improving the quality of life for people affected by chromosome 22q11.2 abnormalities through family and professional partnerships, is acting as the lead sponsor for The 8th Biennial International 22q11.2DS Conference in Orlando, FL,USA from July 6 -10th....


Word of the Day
omadhaun
  • A fool; a simpleton: a term of abuse common in Ireland and to a less extent in the Gaelic-speaking parts of Scotland.
This word is partly Irish in origin.