StemCells Therapy

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Vitamin B12 (VitB12 or cobalamin) is an essential cofactor in several metabolic pathways. Clinically, VitB12 deficiency is associated with pernicious anemia, neurodegenerative disorder, cardiovascular disease and gastrointestinal disease. Although previous genome-wide association studies (GWAS) identified several genes, including FUT2, CUBN, TCN1 and MUT, that may influence VitB12 levels in European populations, common genetic determinants of [...]

Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a functional deficiency of arylsulfatase A (ASA). Previous studies in ASA-knockout mice suggested enzyme replacement therapy (ERT) to be a promising treatment option. The mild phenotype of ASA-knockout mice did, however, not allow to examine therapeutic responses of the severe neurological symptoms that dominate MLD. [...]

Inherited hearing loss in mice has contributed substantially to our understanding of inner-ear function. We identified a new allele at the Myo7a locus, Myo7ash1–8J; genomic characterization indicated that Myo7ash1–8J arose from complex deletion encompassing exons 38–40 and 42–46. Homozygous mutant mice had no detectable auditory brainstem response, displayed highly disorganized hair-cell stereocilia and had no [...]

Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. Using human, Drosophila and mouse models, we show that the proteins encoded by SMARCAL1 orthologs localize to transcriptionally active chromatin and modulate gene expression. We [...]

Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder caused by mutations in the dystrophin gene that result in the absence of functional protein. Antisense-mediated exon skipping is one of the most promising approaches for the treatment of DMD and recent clinical trials have demonstrated encouraging results. However, antisense oligonucleotide-mediated exon skipping for DMD still [...]

LOS ANGELES–(BUSINESS WIRE)– Response Genetics Inc. (Nasdaq:RGDX – News), (the Company), a company focused on the development and sale of molecular diagnostic tests for cancer, today announced its consolidated financial results for the first quarter ended March 31, 2012. Total revenues for the quarter ended March 31, 2012 were $4.0 million, compared to $5.9 million for the quarter ended March 31, 2011 was largely as a result of the expected decrease in pharmaceutical client revenue

SAN JOSE, Calif., May 7, 2012 /PRNewswire/ –Ariosa Diagnostics, a molecular diagnostics company, today announced that the Harmony Prenatal Test will be available in the United States and Canada through Laboratory Corporation of America Holdings (LabCorp) and Integrated Genetics, a member of LabCorp’s Specialty Testing Group. Harmony represents an innovative non-invasive test for detection of common fetal trisomies utilizing a directed approach to analyze cell-free DNA (cfDNA) in maternal blood

Public release date: 8-May-2012 [ | E-mail | Share ] Contact: Mary Jane Gore mary.gore@duke.edu 919-660-1309 Duke University Medical Center DURHAM, N.C. — Advanced high-speed gene-sequencing has been used in the clinical setting to find diagnoses for seven children out of a dozen who were experiencing developmental delays and congenital abnormalities for mysterious reasons.

BOTHELL, Wash.–(BUSINESS WIRE)– Seattle Genetics, Inc. (Nasdaq:SGEN – News) today reported financial results for the first quarter ended March 31, 2012. The company also highlighted the ADCETRIS (brentuximab vedotin) product launch, ongoing and planned clinical development activities and upcoming milestones

Two scientists at Rockefeller University who have helped elucidate the pathways involved in the regulation and expression of genes have been awarded the 2012 Albany Medical Center Prize in Medicine and Biomedical Research. The 2012 Albany Medical Center Prize in Medicine and Biomedical Research is being shared by James E. Darnell Jr, MD, and Robert G.

CAMBRIDGE, Mass. & BOTHELL, Wash.–(BUSINESS WIRE)– Millennium: The Takeda Oncology Company, a wholly owned subsidiary of Takeda Pharmaceutical Company Limited (TSE:4502) and Seattle Genetics, Inc.

For just the second time in history, a UAB faculty member has been elected to the prestigious National Academy of Sciences. Louise Chow — professor of biochemistry and molecular genetics, and a senior scientist in the University of Alabama at Birmingham’s Comprehensive Cancer Center — was one of 105 people picked this year for their distinguished and continuing achievements in original research. Chow received her FedExed letter of invitation from the academy on Wednesday

BIRMINGHAM, Ala.

(CBS News) Love meat? Hate meat? The reason for your answer may come down to genes.

Do you pass when it comes to pork? If you do, the reason you dont like the taste of bacon or ham may lie in your genes.

LOS ANGELES–(BUSINESS WIRE)– Response Genetics, Inc. (Nasdaq:RGDX – News),a company focused on the development and commercialization of molecular diagnostic tests for cancer, will announce its first quarter financial results and an operational update in a press release to be issued before the market opens on Thursday, May 10, 2012

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(RTTNews.com) – Molecular diagnostic company Myriad Genetics Inc. (MYGN) Tuesday reported third-quarter net income of $29.6 million or $0.34 per share, compared to $28 million or $0.31 per share last year. Analysts polled by Thomson Reuters expected earnings of $0.32 per share for the quarter

SAN JOSE, Calif., May 1, 2012 /PRNewswire/ –Ariosa Diagnostics, Inc., a molecular diagnostics company, is pleased to announce that Thomas J. Musci, M.D. will lead the clinical development and medical affairs of the company