JAK1 loss-of-function variants linked to Epidermodysplasia verruciformis and cutaneous HPV susceptibility
Why Losing One Gene Causes Skin Cancer
A genetic analysis with functional assays in four unrelated pedigrees with Epidermodysplasia verruciformis identified novel JAK1 variants as…
A specific genetic glitch stops your immune system from fighting off the viruses that cause common skin cancers.
Case report links biallelic WDR91 variants to impaired endosomal maturation and autophagy in neurodevelopmental disorder
Scientists Link a New Gene to a Severe Childhood Brain Disorder — and Explain Why
A case report with functional analyses in a child with severe neurodevelopmental disorder found that compound heterozygous WDR91 variants (p…
A child with severe brain development issues now has an answer: a broken gene called WDR91 stops brain cells from cleaning themselves proper…
Meta-analysis of GEO datasets identifies specific gene expression alterations in aflatoxin-associated intrahepatic cholangiocarcinoma.
Could aflatoxin exposure change specific genes in liver cancer, and what does that mean for prevention?
This meta-analysis examined genomic data from five Gene Expression Omnibus datasets to identify expression patterns in aflatoxin-induced int…
Liver cancer linked to aflatoxin exposure changes six specific genes, revealing new genetic pathways that could help doctors find early warn…
Social risk factors show larger effect sizes than polygenic risk scores for bipolar disorder in cohort study
What matters more for bipolar disorder: your genes or your life experiences?
A cohort study of 115,275 participants from the All of Us Research Program found that six social risk factors had larger effect sizes than p…
Social factors like stress and childhood trauma are more strongly linked to bipolar disorder than genetic risk, with high social burden some…
Population study links PALB2 variants to increased cancer risk and mortality in two large cohorts
Large study finds PALB2 gene variant linked to higher cancer risk and mortality
A case-control study of over 636,000 adults from UK Biobank and Geisinger MyCode cohorts found heterozygous PALB2 pathogenic/likely pathogen…
A common gene variant called PALB2 is linked to higher odds of breast, pancreatic, and other cancers plus reduced survival compared to peopl…
Multivariate GWAS identifies 248 loci for internalizing disorder and 591 for major depressive disorder in millions of participants.
Millions of people studied to find genetic links to anxiety and depression.
This multivariate and multi-ancestry genome-wide association study analyzed millions of ancestrally diverse participants to investigate the …
A massive study of millions of people reveals that anxiety, depression, and PTSD share a common genetic foundation while also having unique …
Russian FSHD registry shows moderate inverse correlation between D4Z4 repeats and clinical severity
What does FSHD look like in Russia? A registry study maps the disease.
An observational cohort study of 470 patients in the Russian FSHD Patient Registry found genetic confirmation in 76% of participants. The an…
Nearly half of Russian FSHD patients first notice shoulder blade weakness, while others start with facial symptoms or a classic childhood fo…
Pilot nationwide carrier screening in Singapore identifies 0.9% of couples at increased risk
Singapore pilot program screens couples for genetic disease risk, finds 0.9% at higher risk
A pilot implementation study of a nationwide reproductive carrier screening program in Singapore, using a 112-gene panel, found 0.9% of 456 …
Singapore's new genetic screening program found 0.9% of couples carry risks for recessive diseases, sparking interest and support for expand…
DNM1-related disorder shows phenotypic homogeneity and variant clustering in 95 individuals.
Study maps genetic patterns in rare DNM1-related epilepsy disorder
This cohort study evaluated the genotypic and phenotypic landscape of DNM1-related disorder in 95 individuals. Results indicate that disease…
Specific gene errors cause uniform symptoms in rare epilepsy, linking distinct signs to genetic spots and offering clearer paths for future …
TBC1D7 CCG expansions identified as new genetic cause in oculopharyngodistal myopathy families
What causes a rare muscle disease? Scientists find a new genetic clue.
A cohort study of three unrelated families with oculopharyngodistal myopathy identified heterozygous CCG expansions (87-134 repeats) in TBC1…
A rare muscle disease affecting eyes and limbs has a new genetic cause linked to a specific DNA repeat found in three families.
Database analysis finds ancestry-based disparities in variant classification for monogenic diabetes genes
Do genetic databases leave some people with more uncertainty about diabetes risk?
An observational cohort analysis of 14,691 variants from gnomAD v4.0 for 17 monogenic diabetes genes found only 29.7% had any ClinVar classi…
A new look at genetic databases shows that for most non-European groups, uncertain diabetes risk results are significantly lower than for Eu…
Phenotype database PAVS shows utility for gene prioritization in rare disease cases
New database helps prioritize genes for rare disease diagnosis in Saudi Arabian patients
An observational database evaluation study assessed PAVS, a curated database integrating phenotype-associated variants from Saudi Arabian ra…
A new database called PAVS helps doctors prioritize genes for rare diseases in Saudi patients by combining genetic data with detailed sympto…