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The article reports on the study of Leen Abu-Safieh and colleagues which found homozygous mutation in a single gene in the families affected with Bardet-Biedl syndrome (BBS) and cryptic splicing mutations can be neglected by DNA sequencing approaches.

The article presents various research related to genetics. A research revealed that truncating SYNGAP1 mutations is not commonly associated with a broader spectrum of neurological or behavioral phenotypes. Meanwhile, it is discovered that there is a correlation between energy-conversion strategies and environmental variables such as temperature gradient. A study showed that there is a very low diversity for the melanistic K genotype in forest wolves.

The article highlights several research developments regarding genetics in the U.S. Researcher Kaoru Imai and colleagues have reported the outline of a network in the pre-gastrula C. intestinalis embryo. A new pituitary adenoma predisposition phenotype associated with germline loss-of-function mutations in acute intermittent porphyria, encoding the aryl hydrocardon receptor interacting protein has been reported.

The article features developments related to the study of nature genetics. According to the American College of Medical Genetics report, approximately 1 in 800 babies is born with a severe or potentially lethal inborn error of metabolism or other genetic condition that is readily detectable and treatable. National and Ethnic Mutation Databases Web site compile mutation frequency data on inherited disorders in specific populations.

The article presents information on several symposiums on genetics. On December 8, Rockefeller University hosted the Genomic Medicine Discussion Group, the latest in a series of symposia sponsored by the New York Academy of Sciences. The topic for the occasion was "Genetic Studies in Special Populations. Researcher Harry Ostrer introduced the meeting by defining a special population as one with a small, discrete group of founders who migrated and have undergone an extended period of endogamy. Ostrer also described his work on the genetic profiling of Ashkenazi Jews, including recently published findings on the estimated timing of founder mutations in the Jewish diaspora. At an AACR meeting on Chromosomes, Chromatin and Cancer Epigenetics from November 10-14, 2004, in Waikoloa, Hawaii, organizers Peter Jones and Rudolph Jaenisch assembled a program that ranged from silencing of fission yeast centromeres to ongoing clinical trials with histone deacetylase inhibitors.

The article presents information on various scientific research conducted. Researchers report that hereditary early-onset Parkinson disease in three consanguineous Spanish and Italian families was linked to mutations in the protein kinase domain of the gene PINK1. This PTEN-induced protein kinase has a mitochondrial targeting motif and was localized to the mitochondria. The wild-type protein, but not the mutant, protected transfected cells against the decrease in mitochondrial membrane potential and against apoptosis induced by treatment with the proteasome inhibitor MG-132.

Presents an update on the nature genetics. Description of dominant spotting mutation in the mouse by Jackson Laboratories; Launch of expO project for transcription in thousands of clinically annotated tumors and hundreds of normal tissue samples by the non-profit International Genome Consortium; Ban on the cultivation of genetically modified crops in Mendocino County in Northern California.