Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.

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  1. Researchers identify gene variant in Proteus syndrome A team of researchers has identified the genetic mutation that causes Proteus syndrome, a rare disorder in which tissue and bone grows massively out of proportion. The discovery, which has implications for potential drug therapies and even cancer, appears in the July 27, 2011, early online edition of the New England Journal of Medicine. The […]...
  2. Cells’ energy factories linked to damaging inflammation Scientists have discovered that molecules called reactive oxygen species (ROS) produced by the energy factories, or mitochondria, in cells, may play a role in a rare inherited disorder in which uncontrolled inflammation damages the body’s tissues. Their research in human and mouse cells suggests that blocking these molecules could reduce inflammation in TNF receptor-associated periodic […]...
  3. Researchers complete whole-exome sequencing of skin cancer A team led by researchers at the National Institutes of Health is the first to systematically survey the landscape of the melanoma genome, the DNA code of the deadliest form of skin cancer. The researchers have made surprising new discoveries using whole-exome sequencing, an approach that decodes the 1-2 percent of the genome that contains […]...
  4. NHGRI funds development of revolutionary DNA sequencing technologies Researchers today received more than $14 million in grants to develop DNA sequencing technologies that will rapidly sequence a person’s genome for $1000 or less. The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, awarded the grants to enable the everyday use of DNA sequencing technologies by biomedical researchers and […]...
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  7. How Medicare Coverage Can Help – Gene Mutations Linked to Early-Onset Inflammatory Bowel Disease An international team has discovered that mutations in either of 2 related genes cause a severe and rare form of inflammatory bowel disease in young children. The discovery allowed the researchers to successfully treat one of the study patients with a bone marrow transplant....
  8. Researchers Identify Gene Mutations Underlying Risk for Most Common Form of Parkinson’s Disease Parkinson's disease, which affects about 1.5 million Americans, is a progressive neurologic disorder caused by the degeneration of nerve cells in the portion of the brain that controls movement....
  9. Gene Associated with Rare Adrenal Disorder Appears To Trigger Cell Death, According to NIH Study A gene implicated in Carney complex, a rare disorder of the adrenal glands, appears to function as a molecular switch to limit cell growth and division, according to a study by researchers at the National Institutes of Health and other institutions....
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  11. Medicare, Very low birthweight Down syndrome infants at high risk for heart, lung disorders Very low birthweight Down syndrome infants are at higher risk for disorders of the heart and lungs than are very low birthweight infants who do not have a chromosomal variation, according to a study by a National Institutes of Health research network....
  12. Medicare, NIH researchers identify genetic elements influencing the risk of type 2 diabetes Medicare, NIH researchers identify genetic elements influencing the risk of type 2 diabetes: A team led by researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, has captured the most comprehensive snapshot to date of DNA regions that regulate genes in human pancreatic islet cells, a subset of […]...
  13. Medicare Card: Gene Linked to Alzheimer’s Disease Plays Key Role in Cell Survival Scientists have discovered that a gene linked to Alzheimer’s disease may play a beneficial role in cell survival by enabling neurons to clear away toxic proteins. A study funded by the National Institute on Aging (NIA), part of the National Institutes of Health, shows the presenilin 1 (PS1) gene is essential to the function of […]...
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  15. Medicare: Same Genes Suspected in Both Depression and Bipolar Illness Researchers, for the first time, have pinpointed a genetic hotspot that confers risk for both bipolar disorder and depression. People with either of these mood disorders were significantly more likely to have risk versions of genes at this site than healthy controls...