News tagged with rare genetic disorders
Simulated gene therapy
Apr 29, 2009 |
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In a recent issue of The Journal of Chemical Physics, published by the American Institute of Physics (AIP), a group of researchers at the University of California, Berkeley and Los Alamos National Laboratory describe the fi ...
Search results for rare genetic disorders
For the first time, scientists discover causative gene of a rare disorder by exome sequencing
Nov 17, 2009 |
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(PhysOrg.com) -- UW researchers have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a rare disorder. The finding demonstrates the usefulness ...
Molecular anchor links the 2 inheritable diseases Fanconi anemia and Bloom's syndrome
57 minutes ago |
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A new study establishes a molecular link that bridges two rare inherited disorders and explains why these diseases result in genetic instability. The research, published by Cell Press in the December 24th issue of the journal ...
Maternal, paternal genes' tug-of-war may last well into childhood
Jul 28, 2009 |
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(PhysOrg.com) -- An analysis of rare genetic disorders in which children lack some genes from one parent suggests that maternal and paternal genes engage in a subtle tug-of-war well into childhood, and possibly ...
More gene mutations linked to autism risk
Jun 25, 2009 |
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(PhysOrg.com) -- More pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from The Children's Hospital of Philadelphia, the University ...
Duke Studies New Approach in Fetal Transplants for Metabolic Disorders
Oct 13, 2009 |
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(PhysOrg.com) -- Researchers say a new development in cord blood transplants for inherited metabolic disorders may be curative for some babies who are treated while still in the womb.
Researchers surprised by similar structures in Sanfilippo syndrome and Alzheimer's disease
Medicine & Health / Neuroscience
May 04, 2009 |
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Researchers seeking to understand the causes of a rare genetic lysosomal storage disease, Sanfilippo syndrome type B, were surprised to find protein aggregates, known as neurofibrillary tangles, that are usually ...
Tiny, spontaneous gene mutations may boost autism risk
Mar 15, 2007 |
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Tiny gene mutations, each individually rare, pose more risk for autism than had been previously thought, suggests a study funded in part by the National Institute of Mental Health, a component of the National Institutes of ...
Discovery leads to effective treatment of painful skin condition
Nov 24, 2009 |
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Researchers at Huntsman Cancer Institute, in collaboration with a worldwide group of physicians and scientists, have discovered a remarkable treatment for a rare, yet debilitating, skin condition.
Toward reading your own personal 'Book of Life'
Dec 16, 2009 |
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What secrets about your risk for diseases are written in your own personal "Book of Life" -- the 30,000 or so genes that make you you?
Researchers Discover Mutations in Two Genes that Cause Early-Onset Inflammatory Bowel Disease
Nov 05, 2009 |
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(PhysOrg.com) -- An international team including researchers with the National Institutes of Health has discovered that mutations in either of two related genes cause a severe and rare form of inflammatory bowel disease (IBD) ...
List of search results for rare genetic disorders
