Tag: Genetic Disorders
Cell-Free DNA Testing IDs Trisomy 21 in Twin Pregnancies
Performance of cfDNA test for trisomy 21 in twin pregnancies is similar to that in singleton pregnancies
Computer-Based Training Studied in Children With Fragile X Syndrome
Similar improvements seen in groups receiving adaptive, nonadaptive cognitive training program
Mavoglurant Improves Visual Attention in Fragile X Syndrome
Increases noted in total absolute looking time, number of fixations to eye region while viewing faces
AI Technology IDs Genetic Diseases by Analyzing Facial Photos
DeepGestalt technology better than doctors at identifying a range of genetic syndromes
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
