Tag: Genetic Disorders
More Variants in DCM-Tied Genes in Alcoholic Cardiomyopathy
Combination of TTNtv, excess alcohol consumption linked to worse LVEF in dilated cardiomyopathy
Genes Responsible for Crohn’s, Ulcerative Colitis Identified
Findings could improve efficacy of current treatments, lead to discovery of new drug targets
FDA OKs Marketing of Direct-to-Consumer Genetic Risk Tests
Saliva analysis can indicate higher risk of Parkinson's disease, among others, agency says
Guideline Issued on Molecular Biomarkers for CRC Tissues
21 guideline statements developed, including 8 recommendations, 10 consensus opinions
Triple-Negative Breast Cancer Subtype Chemosensitive
Patients with functionally BRCA-D tumors have notably better survival with standard-of-care chemo
Frequency of Multiple Molecular Diagnoses About 5 Percent
Phenotypic similarity score lower for patients with phenotype resulting from two distinct disorders
CSF RT-QuIC Has High Diagnostic Specificity, Sensitivity for Prions
Diagnostic specificity, sensitivity of 98.5, 92 percent, respectively, in blinded retrospective analysis
Tx Response No Different for Migalastat, Placebo in Fabry’s
Percentage of patients with response at six months doesn't differ with migalastat, placebo treatment
Drug Shows Promise for Genetic Proopiomelanocortin Deficiency
After 10 months of daily treatment, one patient lost 112 lbs; another lost 45 lbs in three months
Next-Generation Sequencing Can ID Rare Diseases in Newborns
Technique, performed in a hospital-based laboratory, offers timely results
