||Last Updated: Nov 17th, 2006 - 22:35:04
Williams Syndrome, the brain and music
Children with Williams syndrome, a rare genetic disorder, just love music and will spend hours listening to or making music. Despite averaging an IQ score of 60, many possess a great memory for songs, an uncanny sense of rhythm, and the kind of auditory acuity, than can discern differences between different vacuum cleaner brands.
Oct 5, 2006, 00:58
Exploring genetics of congenital malformations
New research published in the August issue of the Journal of Cell Biology explains for the first time why congenital heart defects so often occur with limb deformities. In their research into the molecular mechanisms that control embryonic limb and heart development, Northwestern University researcher Hans-Georg Simon and his laboratory group recently identified a new protein, LMP4, which binds and regulates activity of the Tbx4 and Tbx5 transcription factors. Tbx5 and Tbx4 proteins play a key role in limb and heart formation in virtually all vertebrates, from fish to birds to mice to humans.
Aug 19, 2006, 21:42
FDA Approves Idursulfase As First Treatment for Hunter Syndrome
The Food and Drug Administration (FDA) approved Elaprase (idursulfase), the first product for the treatment of Hunter syndrome (Mucopolysaccharidosis II, or MPS II), a rare inherited disease which can lead to premature death. Elaprase is a new molecular entity, which is an active ingredient never before marketed in the United States.
Aug 2, 2006, 12:30
PARP1 inhibitors can protect Huntington's disease affected cells from damage
An enzyme known to be critical for the repair of damaged cells and the maintenance of cellular energy may be a useful target for new strategies to treat Huntington's disease (HD) and other disorders characterized by low cellular energy levels. In the August issue of Chemistry & Biology, a research team from the MassGeneral Institute for Neurodegenerative Disease (MIND) describes their discovery of a novel inhibitor of Poly (ADP-ribose) polymerase (PARP1) and their findings that PARP1 inhibitors can protect HD-affected cells from damage in laboratory assays.
Jul 30, 2006, 02:41
Gene therapy protects neurons in Huntington's disease
Researchers at Rush University Medical Center, Chicago, and Ceregene Inc., San Diego, have successfully used gene therapy to preserve motor function and stop the anatomic, cellular changes that occur in the brains of mice with Huntington's disease (HD). This is the first study to demonstrate that, using this delivery method, symptom onset might be prevented in HD mice with this treatment.
Jun 30, 2006, 03:02
Huntingtin cleavage is caused by caspase-6
Researchers at the University of British Columbia's Centre for Molecular Medicine and Therapeutics (CMMT) have provided ground-breaking evidence for a cure for Huntington disease in a mouse offering hope that this disease can be relieved in humans.
Jun 17, 2006, 20:10
The risk of transmission of genetic disorders through donor's sperm
As medical technology continues to advance, fertility procedures such as in-vitro fertilization and donor insemination are becoming more commonplace. However, a study in the May issue of The Journal of Pediatrics warns that, even after thorough screenings of sperm donors, genetic disorders can be transmitted to the conceived children.
May 19, 2006, 19:25
Liver transplants provide metabolic cure for maple syrup urine disease
Liver transplants cured the metabolic symptoms of 11 patients with a rare but devastating genetic condition known as Maple Syrup Urine Disease (MSUD), according to a study by researchers from Children's Hospital of Pittsburgh and the Clinic for Special Children.
Apr 11, 2006, 22:28
Spinocerebellar ataxia type 5 (SCA5) gene pinpointed
Researchers at the University of Minnesota Medical School have discovered the gene responsible for a type of ataxia, an incurable degenerative brain disease affecting movement and coordination.
Jan 23, 2006, 16:12
Scientists probe connection between regulatory DNA and disease
Through the Human Genome Project, the HapMap Project and other efforts, we are beginning to identify genes that are modified in some diseases. More difficult to measure and identify are the regulatory regions in DNA – the 'managers' of genes – that control gene activity and might be important in causing disease.
Dec 17, 2005, 15:34
Farnesyl Transferase Inhibitors in Hutchinson-Gilford progeria syndrome
Johns Hopkins scientists have discovered that a drug currently being tested against cancers might help children with a rare, fatal condition called Hutchinson-Gilford progeria syndrome, which causes rapid, premature aging.
Children with progeria appear normal until they're 6 months to a year old, but then begin developing symptoms normally associated with old age -- wrinkled skin, hair loss, brittle bones and atherosclerosis, which usually causes their deaths by about age 13. There's no known treatment.
Sep 28, 2005, 13:20
Clioquinol, an antibiotic shows new promise for Huntington's Disease
Clioquinol, an antibiotic that was banned for internal use in the United States in 1971 but is still used in topical applications, appears to block the genetic action of Huntington's disease in mice and in cell culture, according to a study reported by San Francisco VA Medical Center (SFVAMC) researchers.
Sep 12, 2005, 18:14
Anti-cancer drugs might work in aging disease
Working together, scientists at the National Institutes of Health and the University of North Carolina at Chapel Hill have developed a promising new strategy for treating a form of progeria. That rare but deadly and heartbreaking genetic disease causes children to age remarkably fast and die almost always before they complete their teens.
Aug 30, 2005, 19:45
Lamin research project provides clues about premature aging
A step towards understanding cell mutations that cause a variety of human diseases, particularly in children -- including that which brings about premature aging and early death -- has been taken by researchers at the Hebrew University of Jerusalem Silberman Institute of Life Sciences and the John Hopkins University School of Medicine.
Aug 30, 2005, 19:42
Drug prevents cell abnormality leading to progeria
Genetic disease causes accelerated aging, death in children
Aug 30, 2005, 19:39
Farnesyltransferase inhibitors (FTIs) might be useful in Hutchinson-Gilford Progeria Syndrome
In a surprising development, a research team led by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has found that a class of experimental anti-cancer drugs also shows promise in laboratory studies for treating a fatal genetic disorder that causes premature aging.
Aug 30, 2005, 19:33
Lorenzo's oil (LO) reduced the risk of developing severe X-linked adrenoleukodystrophy (ALD)
Treatment of boys with X-linked adrenoleukodystrophy (ALD) with Lorenzo's oil (LO) reduced their risk of developing the severe debilitating form of the disease, according to a study in the July issue of the Archives of Neurology, one of the JAMA/Archives journals.
Jul 12, 2005, 12:26
Understanding the interaction of Fragile X mental retardation protein and kissing complex RNAs
Fragile X syndrome is the most common inherited form of mental retardation, affecting approximately 1 in 3600 males and 1 in 4000-6000 females.
Apr 18, 2005, 04:57
Roberts Gene ESCO2 Discovered to be behind "PSEUDOTHALIDOMIDE" Syndrome
A team of scientists from Colombia, the United States and elsewhere has successfully completed a 15-year-plus search for the genetic problems behind the very rare Roberts syndrome, whose physical manifestations often include cleft lip and palate and shortened limbs that resemble those of babies whose mothers took thalidomide during pregnancy.
Apr 12, 2005, 13:02
Potential therapeutic target for Huntington's disease
Researchers studying yeast cells have identified a metabolic enzyme as a potential therapeutic target for treating Huntington's disease, a fatal inherited neurodegenerative disorder for which there is currently no effective treatment.
Apr 7, 2005, 18:14
Putting a finger on shortened digits
Brachydactyly is a group of inherited disorders of the hands that are characterized by shortened fingers and abnormal joint formation.
Apr 3, 2005, 13:44