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Latest Medical genetics Stories

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....

2012-06-14 10:23:12

Lines in US registry will help studies on Huntington's disease, hemophilia & more ANN ARBOR, Mich., June 14, 2012 /PRNewswire-USNewswire/ -- Six new human embryonic stem cell lines derived at the University of Michigan have just been placed on the U.S. National Institutes of Health's registry, making the cells available for federally-funded research. U-M now has a total of eight cell lines on the registry, including five that carry genetic mutations for serious diseases such as the...

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....

2012-05-30 06:25:51

BETHESDA, Md., May 30, 2012 /PRNewswire-USNewswire/ -- After a career that spanned nearly half a century, Dr. David L. Rimoin, founding president of ACMG and in many ways the founder of one of the most fast-paced specialties in modern clinical medicine, passed away on Sunday May 27, 2012 in Los Angeles of pancreatic cancer, which had only been diagnosed a few days before. Dr. Rimoin was a giant in the field of medical genetics. He leaves not only an enduring legacy but also a...

2012-05-30 06:25:43

Remembered for Four Decades of Volunteer Service to Maternal and Infant Health WHITE PLAINS, N.Y., May 30, 2012 /PRNewswire-USNewswire/ -- David Rimoin, M.D., Ph.D., a researcher and geneticist who gave a lifetime of service to the March of Dimes, died May 27th from pancreatic cancer. He was 75. Dr. Rimoin served on numerous scientific advisory committees for the organization, most recently as a member of the Transdisciplinary Research Advisory Committee. "We have lost a leader and...

2012-05-29 10:24:04

--Children's Hospital of Philadelphia Researchers Shed Light on Genetic Disorders Tied to Cohesin Protein Malfunction-- PHILADELPHIA, May 29, 2012 /PRNewswire-USNewswire/ -- Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt...

2012-05-29 12:37:29

Children's Hospital of Philadelphia researchers shed light on genetic disorders tied to cohesin protein malfunction Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt cohesin, causing a recently recognized class of diseases called...