Systematic review finds first FDA-approved CRISPR therapy and broader clinical trial exploration
First CRISPR gene therapy approved for blood disorders, with broader research underway
A systematic review of clinical trials registered at clinicaltrials.gov found the first CRISPR-Cas9 therapy obtained FDA approval in late 20…
The first CRISPR gene therapy is approved for sickle-cell anemia and β-thalassemia, with ongoing trials exploring its use for cancer and inf…
FRMPD4 gene variants associated with prelingual hearing loss in two families, cross-species studies show
Genetic study links FRMPD4 gene variants to early-onset hearing loss in families
A genetic analysis of two unrelated families identified maternally inherited FRMPD4 variants in three males with prelingual, symmetrical sen…
A rare gene variant linked to intellectual disability also causes early hearing loss in families without other neurological issues, based on…
Novel TGFBR2 variant E431K disrupts TGF-beta signalling in Loeys-Dietz syndrome case
What does a single genetic change reveal about a rare heart condition?
A case report of a patient with syndromic aortopathy characterized a novel TGFBR2 kinase domain variant (E431K). AI-driven modelling and in …
A single new DNA change in a patient's heart gene confirmed a rare disorder by disrupting a vital cellular communication system that control…
Case report identifies PQBP1 variant in Chinese boy with Renpenning syndrome features
What does a rare genetic change reveal about a boy's developmental challenges?
A case report and literature review describes a 4-year-7-month-old Chinese male with severe developmental delay, microcephaly, and other fea…
A rare genetic change in a Chinese boy explains his developmental delays, small head, and a surprising birth defect called anal atresia.
HLA-Resolve workflow validated for high-resolution HLA typing in 32 diverse samples
Researchers validate new method for detailed genetic typing in immune system genes
A methodological validation study of the HLA-Resolve workflow in 32 geographically diverse samples demonstrated performance validation again…
A new lab method called HLA-Resolve delivers accurate genetic typing for immune system genes using a cost-effective approach that overcomes …
GWAS meta-analysis finds female-specific adiposity genetics linked to endometrial cancer risk
Why does body fat affect women's cancer risk differently than men's?
A genome-wide association study meta-analysis of genetic data from 2 million people identified a fourfold larger female-specific genetic com…
A massive genetic study of 2 million people reveals that the link between body fat and endometrial cancer is uniquely female. Researchers fo…
Review examines reference gene selection methods for qRT-PCR normalization in cancer research
Review examines gene analysis methods for cancer research and precision medicine
A systematic review describes the progression of traditional and advanced reference gene selection methods for qRT-PCR normalization and the…
Accurate cancer research depends on picking the right reference genes, and new tools now help scientists choose them for better precision me…
Genetic factor in BCAA metabolism linked to type 2 diabetes and coronary artery disease risk
Genetic study finds link between amino acid metabolism and diabetes, heart disease
Genomic structural equation modeling in European and East Asian populations (n=42,826) identified a genetic factor influencing branched-chai…
A new genetic study links how your body processes protein building blocks to higher risks of type 2 diabetes and heart disease beyond weight…
Genetic prevalence estimates for 22 autosomal recessive conditions show wide carrier frequency range
How common are rare genetic conditions? New tool gives clearer estimates.
A population data analysis using the Genome Aggregation Database (gnomAD) estimated conservative carrier frequencies for 22 autosomal recess…
A new tool shows carrier chances for rare genetic conditions range from 1 in 164 to 1 in nearly 12,000 people, but these numbers shift as ge…
Early age onset predicts MACE in pediatric cardiomyopathy patients with TTN variants
Study finds early age of onset predicts heart events in children with TTN gene cardiomyopathy
A retrospective observational cohort study of 53 pediatric patients with cardiomyopathy and TTN variants found early age-onset disease predi…
Children with TTN gene heart disease who develop symptoms before age six face higher risks of major heart events like failure or severe rhyt…
Combined tumor markers and CT imaging show high sensitivity for solitary pulmonary nodule malignancy
Study finds combining blood tests and CT scans may help assess lung nodule cancer risk
A retrospective cohort study of 110 patients with solitary pulmonary nodules found that combining serum tumor markers (CEA, NSE, CA-125, CYF…
Combining blood tests and CT scans correctly identified 96.9% of cancerous lung nodules, outperforming either test alone in spotting maligna…
Prime editing therapy shows early neutrophil activity in two patients with p47-deficient CGD
Early trial shows gene editing therapy may restore immune function in two patients with rare disease
A Phase 1 trial in two participants with p47-deficient chronic granulomatous disease (CGD) found that autologous CD34+ cell therapy using pr…
Two patients with a rare immune disorder regained the ability to fight infections after receiving a new gene editing therapy that fixed thei…