Key to Triplet Repeat Brain Diseases Open Door For New Way To Understand, Treat Genetic Diseases"
...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 the roles of the proteins producedby Haw River or any of the triplet repeat diseases are, "Our hyp...International Research Team Clones New Skin Cancer Gene
...e hereditary disorder, nevoid basal cell carcinoma syndrome (NBCCS). People with this syndrome often develop thousands of skin cancers and may also have birth defects and childhood brain tumors. ...Florida Researchers Discover Gene For Fatal Childhood Disease
...ders such as lupus. Children born with the syndrome have an inherited immune deficiencythat weakens th..." People and mice who have Chediak-Higashi syndrome are much moresusceptible to cancer, which spreads faster and more widely than in typicalcancer patie...Low-Protein Diet May Reverse Kidney Disease
...nt, but all eventually went on dialysis. Nephrotic syndrome usually is treated with drugs and only modest redu... study with a larger number of patients. Nephrotic syndrome is marked by damage to the glomeruli, the kidney's filtering units. This causes severe loss of prote...Bacterial Protein Structure Hints At Mechanism Of A Class Of Premature Aging Diseases
... for a classof genetic diseases including Werner's syndrome and Cockayne's syndrome, premature aging syndromes; Bloom's syndrome, a type of dwarfism; and somekinds of skin cancer. Understanding of these diseases on the molecular levelis minimal. But since the helicase's job is to help replicate the chromosome...ORNL Mice Helping Researchers Isolate, Identify Causes Of Cancer
...at's simply called "beige" in mice. In people, the syndrome causespartial albinism, an increased susceptibility to infections and apredisposition to non-malignant lymphoma. Beige mice have the same clinicalsymptoms as humans. This similarity in diseases, along with comparative mapping studies, ledJustice and ...NIH Team Discovers Endocrine Tumor Gene
...parent who has MEN1 or some other inherited cancer syndrome passes on a malfunctioning tumor suppressor gene,leaving a child with only one normal copy of the gene. If that single, normal gene mutates because of environmental or other random influences, all the brakes are gone and that cell can grow out of c...Researchers Find Production Point Of Key Protein In Fragile X Syndrome
... While stressing that new treatments for fragile X syndrome won't immediatelyresult from the findings, Greenough said, "The knowledge allows usto focus on a particular aspect of the brain and its development in effortsto better understand the disorder." "It had been known from studies of mice, rats, cats, mo...Photocatalytic Air Cleaning System Promises To Help Allergy Sufferers
... two obvious places for this system. Sick building syndrome will be a thing of the past where this system is used. The photocatalytic system can quickly kill off 100 percent of bacteria in indoor air," said Goswami. The technology is being readied for the market by Universal Air Technology at the Sid ...Peutz-Jeghers Disease Gene Identified: Enzyme Loss Causes Polyps And Cancer
... to Nature on January 8, 1998. Peutz-Jeghers syndrome was first described by Peutz (1921) and Jeghers...ent of malignant neoplasms. Peutz-Jeghers syndrome is inherited in affected families, but can also appear sporadically. The first step to identif...Doublecortin : A Novel Gene Involved In Cortical Development
...ions namedthe X-SCLH/LIS syndrome. The X-SCLH/LIS syndrome was first described by French neuropaediatricians ...vereforms of epilepsy and mental retardation. This syndrome consists of two similarmalformations of the cerebral cortex known as subcortical laminar heterotopia......e thatcarriers of a single mutation in the Wolfram syndrome gene are 26 times morelikely to require hospitalization for depression and/or suicide attempts thanpeople who do not have a mutation in this gene. The authors estimate that 1percent of the population, and 25 percent of the patients hospitalized for s...Emory University Fragile X Group Receives NIH Program Grant
...to further clarify themolecular basis of fragile X syndrome and expand the scope of contemporaryfragile X syndrome research. In recent years there has been a spectacular increase in theunderstanding of the ...Gene For Inherited Syndrome Is Possible New Tumor Suppressor
...r suppressor genes. The disorder is Peutz-Jeghers syndrome (PJS). People who are born with ittypically develop precancerous polyps in theintestines in their teen years or later, and have freckle-like spots on thelips, around the mouth, and on the fingers. These individuals are also at a higher risk for a va...Genetics Of Obesity And Of The Response To Chronic Overfeeding
...ibility to several manifestations of the metabolic syndrome includingcardiovascular disease. Of considerable interest is the role of the genes in the predisposition tobecome obese. Among the lines of evidence for a role of the genes, one mustinclude the human linkage studies. Two genomic scans have been ...Rare Mutation Find May Offer Clues To Treating Osteoporosis
...e Forest University. "Tricho-dento-osseous syndrome is so rare that it probably only affectsa few thou...iatric dentistry at UNC-CH. "Still, ourwork on TDO syndrome is potentially extremely important because it could give usclues about how to treat osteoporosis mor...Human Bone Disorder Reproduced In Mice
...model for a genetic disorder calledMcCune-Albright syndrome (MAS) starting from abnormal, mutant stromal cells. Thedisorder is characterized by scattered areas of weak and deformed bone, patchesof abnormal skin pigmentation, and hormonal irregularities, such as precociouspuberty. MAS is caused by a mutation i......le infertility syndrome. Men with the infertility syndrome haveimmature sperm that are developmentally interrupted at the same stage ofcreation as was observed in defective yeast spores. "This observation sets out a whole paradigm for exploring the humangenetics of infertility in men," says Rene...New Treatment Successful With Hepatitis C
...clude a drop in white blood cell countand flu-like syndrome with aches, pains and fever. Hair loss, anemia, thyroiddisease and severe depression occur less frequently. Amantadine has fewer side effects, including: difficulty in concentration,constipation and rare cardiac symptoms in some elderly patients. A...Mouse Model Of Down Syndrome Offers Glimpse Into Role Of Specific Genes In TheDisorder
.... And researchers have known fordecades that Down syndrome is associated with an extra copy of all or part of... between thecognitive deficits in humans with Down syndrome and the learning, behavioral andstructural abnormalities observed in the genetically engineered mice...