Research Team Finds Gene Causing Two Types Of Muscular Dystrophy
...tarted working on what we thought was a very rare, orphan disease and foundthat our work also applied to a more abundant form. It appears that 5 to 10percent of cases of muscular dystrophy may result from mutations in this gene." He adds that identifying the gene will help improve diagnosis of theseparticu...Scientists Discover Function For Type III TGF-Beta Receptor
... function for it," Barnett said. "It'sremained an orphan in that regard." The newly defined role for the Type III TGF-beta receptor in AV cushiontransformation during heart development sparks questions about how this receptorsends signals. "Our data suggest that the Type III TGF-beta receptor does more tha...Discovery Of A Molecule That Controls Bile Acids May Lead To New Cholesterol Drugs
... Their finding -- that the receptor FXR (farnesoid orphan receptor) isintegral to maintaining the balance of...called oxysterols. These substances activate liver orphan receptor(LXR) to speed up the breakdown of cholesterol for conversion to bile acids andsteroid hormo......s have been treated with M-Vax, which has received orphan drug status in the U.S. M-Vax is expected to become commercially available to patients in Australia in 2000. The AC Vaccine technology is also being evaluated in a Phase 2 trial in ovarian cancer and in Japan for use in the treatment of breast canc...AVAX Technologies' AC Vaccine™ improves relapse-free survival
...s have been treated with M-Vax, which has received orphan drug status in the U.S. M-Vax is expected to become commercially available to patients in Australia in 2000. The AC Vaccine technology is also being evaluated in a Phase 2 trial in ovarian cancer and in Japan for use in the treatment of breast canc......ients have been treated with M-Vax, which received orphan drug status in the U.S. in February 1999. It is expected to become commercially available to patients in Australia by mid-2000.......events having been found. M-Vax™ has received orphan drug status in the U.S., and is expected to become commercially available to patients in Australia in mid-2000. The AC Vaccine technology is also being evaluated in a multi-center Phase 2 trial in ovarian cancer (O-Vax™), a Phase 1/2 equivalent ...Scripps chemist wins national award for neurodegenerative disease research
... strike fewer than 100,000 people are often called orphan diseases ones too rare for pharmaceutical compani...enough progress to get people interested in it, an orphan disease may or may not remain as such, Kelly said. One type of rare disorder his team studies is fam...UT Southwestern researcher receives $15 million grant from Japan Science and Technology Corp.
... greatly enhance our efforts in the hunt for these orphan receptor ligands," said Yanagisawa. Because the grant comes from the Japanese government, part of the research must be conducted in that country. Research will be done both on the UT Southwestern campus and in a new lab in Tokyo, supervised by Dr. T...Circadian influence in plants more widespread than previously thought
...ays McClung. "It's also possible that we picked up orphan circadian elements that aren't actually regulating anything."...Drug developed for rare disease may help millions more as treatment for cancer, autoimmune diseases
...val by the U.S. Food and Drug Administration as an orphan drug for treating Wilson's disease. Meanwhile, patients have come to UMHS from all over the world to receive treatment through the clinical trials protocol. While the Wilson's treatment began to achieve success in the early 1990s, research at U-M and...OHSU scientists uncover key protein for Fanconi anemia, cancer susceptibility
...d more people discover that it is not just a rare, orphan disease. The PHF9 project "shows there may be an even more fundamental connection not only to cancer-causing processes, but to human aging processes generally." "It shows that the research discipline intersects with new material in very unexpected wa...Enzyme discovery sheds light on causes of rare disease, cancer
.... "This is the kind of discovery that takes a rare orphan disease and puts it in the mainstream of important science that affects the lives of millions of people." In addition to NIA, researchers at the Baylor College of Medicine in Houston, the Oregon Health & Science University in Portland, and the Free U...Newly identified gene linked to brain development
...e showed that mutations in GPR56, which encodes an orphan G protein-coupled receptor [GPCR], were responsible for BFPP," explains Piao. GPR56 is expressed in the neural stem cells produced in the cerebral cortex, and plays an especially important role in the frontal portions of the cortex. Walsh's laborato...Gene discovered for Cornelia de Lange syndrome, a disabling genetic disease
...igations of other genetic conditions, particularly orphan diseases: rare, poorly understood disorders. The lead researchers, Ian D. Krantz, M.D., of Childrens Hospital, and Laird G. Jackson, M.D., of Drexel University College of Medicine, together maintain the worlds largest database of patients with Corne......of genes called the retinoic acid receptor-related orphan receptor-a (Rora) cycled and had the ability to co...and do not bind to retinoic acid. (They are called orphan receptors because it is not known what activates them). The Flick of a Switch Rora is a gene t...IBD (Crohn's/ulcerative colitis) conference adds 18 speakers; APS meeting starts Thursday
...rs, IBD has gone from a somewhat invisible, almost orphan disease to one where almost everyone you talk with knows someone" with either Crohn's Disease or ulcerative colitis, the two constituent diseases of IBD, Grisham added. Formerly thought of as predominantly a white American and Eur...New study indicates arsenic could be suitable as first-line treatment in type of leukaemia
...re type of leukaemia. It is already licensed as an orphan drug (the term for drugs intended to treat rare conditions) for patients who have relapsed after initial therapy for acute promyeloctytic leukaemia (APL). But now, a research team led by Dr. Ardeshir Ghavamzadeh and Dr. Kamran Alimoghaddam at Tehran ...