news archive genetic news - October 13, 2006

October 13, 2006

your information resource in human molecular genetics

-	Detecting Disease-Causing Mutations in the Human Genome by Haplotype Matching The authors describe a new strategy for detecting mutations that is based on comparing affected haplotypes with closely matched control sequences from healthy individuals, rather than with the human reference genome.
-	PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy The study findings highlight a role of phospholipase in neurodegenerative disorders.
-	A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome Abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth.
-	Systems Biology Tackles The Mechanisms Of Cancer Potential novel targets for anti-cancer therapy are revealed.
-	Itching And Scratching Dust mites produce an allergen that disrupts the skin's ability to act as a barrier to other allergens and environmental irritants.
-	Recommendations Help Identify Patients Suitable For NSAID Treatment Recommendations should help physicians to identify quickly whether or not a patient is suitable for treatment with nonsteroidal anti-inflammatory drugs (NSAIDs).
-	Focus On Childhood Developmental Disorders A special focus issue on childhood developmental disorders, including specific language impairment and dyslexia, autism, and the mental retardation syndrome fragile X, is presented.
-	New Strategy For Controlling Inflammation A previously unknown method of terminating immune responses is reported.
-	New Breast Cancer Susceptibility Gene Identified Women with mutations in a gene called BRIP1 have twice the normal risk of breast cancer.
-	One Step Toward More Efficient Cloning A one-step somatic cell nuclear transfer procedure using a differentiated cell as a nuclear donor is reported for the first time.
-	Controlling The Insulin-Degrading Enzyme May Relieve Alzheimer's Disease The structure of an enzyme that degrades insulin and amyloid-beta suggests a possible way to design drugs that combat the abnormal levels of these proteins in sufferers of diabetes or Alzheimer's disease.
-	Drug Target For Obesity? A molecule that makes mammals feel full up has been identified.