Case report describes complex FBRSL1 variant in infant with developmental and epileptic encephalopathy
Doctors describe a new genetic finding in an infant with severe developmental disorder
A case report describes an infant girl with profound developmental and epileptic encephalopathy (DEE) and multiple congenital abnormalities.
A new genetic change in the FBRSL1 gene causes severe seizures and developmental delays in an infant, expanding what doctors know about this…
RD-Embed framework shows improved rare-disease diagnostic retrieval in computational study
Can a new AI tool help doctors spot rare diseases faster?
A computational study evaluated RD-Embed, a three-stage representation framework, on ten rare-disease datasets.
A new AI tool finds rare disease diagnoses in hospital records more often than other models, offering hope to families stuck in years-long d…
Qualitative study finds knowledge gaps and insurance concerns about prostate cancer genetic testing
What stops men from getting genetic testing for prostate cancer?
A qualitative and survey study of 20 men with prostate cancer, plus patients, carers, and healthcare providers, found generally low knowledg…
Fear of insurance discrimination and low knowledge about genetic testing are stopping many men from getting prostate cancer tests that could…
SPG4 frequency is 33.3% in Central Chinese HSP families with 7 novel SPAST variants identified
Genetic study finds SPAST variants in one-third of Chinese families with hereditary spastic paraplegia
An observational cohort study of 63 unrelated hereditary spastic paraplegia (HSP) families from Central China found SPAST variants in 33.3% …
Genetic testing found SPAST gene changes in one-third of Chinese families with hereditary spastic paraplegia, including seven new variants a…
LOC100130476 rs80213143 variant associated with SLE susceptibility and renal involvement in Chinese Han cohort
Genetic variant linked to lupus susceptibility and kidney involvement in Chinese study
A cohort study in a Chinese Han population found the rs80213143 variant at LOC100130476 was associated with systemic lupus erythematosus sus…
A specific genetic marker found in Chinese patients is strongly linked to lupus and predicts more severe kidney disease.
GWAS identifies 282 insulin resistance loci, links to fat distribution and candidate mediators
Large genetic study identifies hundreds of DNA regions linked to insulin resistance
A multi-trait GWAS and Mendelian Randomization study in up to 1.25 million individuals identified 282 insulin resistance-associated loci, in…
A massive genetic study found 282 DNA regions linked to insulin resistance, revealing how fat storage patterns and specific proteins drive m…
Non-invasive PGT method shows diagnostic concordance with invasive biopsy in monogenic disease families
Could a simple IVF lab test replace invasive embryo biopsies for genetic screening?
A methodological development study of 191 spent culture medium samples from 29 families with rare monogenic disorders found a new niPGT meth…
A new IVF lab test analyzed spent embryo fluid to match invasive biopsy results for rare genetic disorders without changing standard procedu…
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).
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 …