Regional motif diversity score in cfDNA predicts pembrolizumab response in head and neck cancer
Can a DNA pattern predict who will heal from head and neck cancer immunotherapy?
A phase II trial in 68 patients with locally advanced, resectable HNSCC found that a regional motif diversity score (rMDS) in cell-free DNA …
A new DNA pattern in blood can reliably predict which head and neck cancer patients will respond to immunotherapy and live longer without th…
Systematic review finds MSTN gene editing in livestock yields multiplicative trait effects with health challenges
Editing a cattle growth gene creates many changes, but also brings hidden health challenges.
A systematic review examining MSTN gene editing in cattle, swine, sheep, poultry, and aquatic species found the intervention produces multip…
Editing a cattle growth gene creates many changes, but also brings hidden health challenges that ripple through the animal's entire biology.
Meta-analysis finds pharmacogenomics-guided prescribing may be cost-effective for psychiatric disorders
Can genetic testing for psychiatric medication save money? The evidence is promising but not yet clear.
A systematic review and meta-analysis of 17 economic studies in adults with psychiatric disorders found 88% of studies favored pharmacogenom…
Genetic testing for psychiatric drugs hints at savings, but mixed study results mean it's not yet clear if the approach truly cuts costs.
Heparin separator residual plasma shows concordance with standard tubes for cfDNA analysis in feasibility study
Study explores using leftover hospital blood plasma for DNA biobanking
A cohort study of healthy volunteers (n=5-6) and viral PCR-positive patients (n=38) found heparin separator plasma showed high concordance w…
Leftover hospital blood tubes can collect DNA just as well as special tubes if processed quickly, offering a new source for genetic research…
Genetic study identifies 375 shared loci between major depression and multisite chronic pain
Genetic study finds shared genetic links between chronic pain and depression
A genetic association study in European-ancestry individuals found a high degree of polygenic overlap between major depressive disorder and …
A new genetic study reveals 375 shared DNA locations linking chronic pain and depression, highlighting two specific genes active in the brai…
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. The framework attained up to…
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…