Key to Triplet Repeat Brain Diseases Open Door For New Way To Understand, Treat Genetic Diseases"
...me (alsoknown as DRPLA), an inherited neurological disorder that affects residentsof a rural North Carolina community. The scientists found that the syndrome was like Huntington's disease inthat it was attributed to genes that acquire excess CAG nucleotide sequences. Although the scientists do not know what...Researchers Pinpoint Site For Petit Mal Seizures In Brain
...e findings may lead to more specific drugs for the disorder with fewer side effects, said Dr. David Hosford, assistant professor of neurology at Duke and the Durham Veterans Affairs Medical Center. Petit mal or "absence" seizures affect 100,000 children in the United States and account for one-fifth of all c...Duke Researchers Find Second Gene Linked To Blood Vessel Disorder
...rchers have linked asecond gene to a rare bleeding disorder -- a discovery that offers insightinto how blood v...ditary hemorrhagic telangiectasia(HHT), a bleeding disorder that strikes 1 in 40,000 people. Geneticist DougMarchuk, postdoctoral researcher David Johnson, the ...Low-Protein Diet May Reverse Kidney Disease
...treatment for nephrotic syndrome, a chronic kidney disorder that often leads to kidney failure. Scientists hav...ds are slightly modified forms of amino acids. The disorder gradually disappeared during the next three to 15 months in five participants, who started the study...Component In Soy Products May Be Substitute For Estrogen Treatment
...a key location for assessingosteoporosis, a common disorder of aging women that is marked by a progressiveloss of bone tissue because of a loss of bone calcium and protein. The group that consumed the isolated soy proteins, regardless of isoflavonecontent, saw the greatest improvement in blood cholesterol pr...Cholesterol Anchor Helps Signaling Proteins Direct Development
...mith-Lemli-Opitz syndrome, a serious developmental disorder that strikes approximately one in every 9,000 babies. The disorder disables the body's ability to make cholesterol, producing multiple serious birth defects. The othe...Researchers Find Genetic Clues To Intestinal Disease
...udy is the first to show genetic anticipation in a disorder caused by multiple genes, according to Bayless. The Hopkins team speculated that the disease, which is probably caused by mutations in several yet unidentified genes, may be made worse when there are numerous copies of these mutations, called a tripl...Two Long-sought Diabetes Gene Found
...icagos Howard Hughes Medical Institute, traced the disorder to mutations of two similar genes one on chromosome 12 and one on chromosome 20 that regulate the activity of other genes. "Both of these are known genes but neither one was considered likely to play a role in diabetes," said Bell. Both genes turned...Blood Test Can Identify Some Children With Strep-Related Behavioral Disorders
...try,this offers a very rare opportunity to catch a disorder early and to treat itaggressively," she said. Swedo urges doctors who examine children exhibiting anabrupt onset of OCD or tic symptoms to check the young people for strep, and ifstrep is present to treat it with penicillin. In some cases, OCD or tic...NIH Team Discovers Endocrine Tumor Gene
...at is what happens in MEN1, an inherited endocrine disorder that causes simultaneous, multiple tumors of the parathyroid and pituitary glands and of islet cells in the pancreas. Parathyroid and pituitary tumors are almost always benign, but abnormal hormone secretion by these tumors is an important cause of ...Duke Study Shows Early Marrow Transplant Key To 'Bubble Boy' Disease Cure
...lived short lives in sterile rooms. Children witha disorder known as "bubble boy" disease were born without an...s that more than 90 percentof babies born with the disorder can be given a healthy immune system ifthey receive a bone marrow transplant within three months of ...Children With AD/HD Have Significant Functional Disabilities Related to Attention Deficit
...en diagnosed with attention deficit/ hyperactivity disorder (AD/HD) have as much functional disability as chil...s month, children diagnosed with attention deficit disorder who routinely have been receiving federal Supplementary Security Income funds must demonstrate they ...Second Gene Responsible For Tuberous Sclerosis Complex Identified
...iscomplex (TSC), a relatively common developmental disorder characterized by anumber of abnormalities, includi...,which are firm, potato-like nodules that give the disorder its name and are madeup partly of abnormal neuronal cells and glial cells, the brain's connectivetis...Female Adolescents Need Calcium During 'Window Of Opportunity'
...f bone material and minerals as a person ages is a disorder called osteoporosis. This condition can cause bones to become thin and weak, resulting in a greater chance of fractures and other injuries. In severe cases, osteoporosis also can cause a person's shoulders to round and the upper back to deform, resul......kingif there is a test to predict their risk for a disorder and whetherthey really want to have the test done. In a case profiled in the book, for example,a woman called Sophie Baldwin (fictitious name used to protecther privacy) has a family history of breast cancer. Almost everyfemale relative had died of ...Vitamin C Deficit Linked To Skin Disease
...iciency of vitamin C may play a role in a complex disorder calledporphyria cutanea tarda, or PCT, according t...iciency of vitamin C is a contributing cause ofthe disorder or one of its effects. PCT is the most common form of porphyria, a group of disorders that causesch...MGH-Led Team Finds Gene For Crippling Neurologic Disorder
...nset dystonia, a crippling, inherited neurological disorder that begins in childhood. The discovery, announce...m whether childrenwith dystonia symptoms have this disorder rather than other diseases -- likecerebral palsy or early-onset Parkinson's disease -- that can appe...... veterans do not suffer from post-traumatic stress disorder or other psychological problems (published in the August 1997 Archives of Clinical Neuropsychology ). The $3 million will allow UT Southwestern researchers, assisted by the Defense Department and North Carolina-based Research Triangle Institute, to ......hed light on theopposing relationship between that disorder and epilepsy, according to JaniceStevens, M.D., and Duane Denney, M.D. of the Departments of Neurology andPsychiatry at Oregon Health Sciences University. Their work focuses on the drug clozapine, one of the more useful newdrugs used for tre......mosome 2 (1). "This is an important advance for a disorder that affects millions ofAmericans," says Zach W. Hall, Ph.D., Director of the National Institute ofNeurological Disorders and Stroke. "It will lead the way to discovery of thegene, which should help us better understand the basis for this disablingc...