Genomic and functional analyses address missing heritability in HDGC-like families lacking CDH1 and CTNNA1 variants
Why Some Stomach Cancer Families Were Missing a Genetic Answer All Along
This cohort study analyzed 19 HDGC-like probands and six additional families to investigate mechanisms of hereditary diffuse gastric cancer …
A new genetic study found missing causes of hereditary stomach cancer in nearly half of families who had previously tested negative.
Computational platform expands genetic screening scope in high-consanguinity Gulf populations
Could a new genetic screening tool prevent thousands of inherited diseases?
A computational platform description and economic modeling study in Saudi Arabia and Gulf Cooperation Council States projects that expanding…
A new screening tool could prevent 2,800 to 4,200 births of children with inherited diseases each year by expanding checks from two to over …
Epigenome-wide study identifies methylation differences in monozygotic and dizygotic twins discordant for nonsyndromic cleft lip with or without cleft palate
Twin study finds DNA marks linked to cleft lip and palate
This epigenome-wide association study examined 32 monozygotic and 22 dizygotic twin pairs discordant for nonsyndromic cleft lip with or with…
A twin study found specific DNA marks linked to cleft lip and palate, pointing to chemical tags that influence how genes work during facial …
Melanoma cell subpopulations identified; EIF5A linked to poor outcomes in observational cohort
New Cell Types Found That Help Fight Melanoma
This observational study analyzed 70,760 cells from 11 samples and clinical specimens from seven patients, alongside the TCGA-SKCM cohort.
Some melanoma cells help your immune system fight the cancer, and a new study identifies seven major cell types linked to better outcomes.
Reni-cel gene therapy shows transfusion independence in small phase 1-2 trial for β-thalassemia
New Gene Edit Stops Blood Transfusions
A single-group phase 1-2 trial in 9 adults with transfusion-dependent β-thalassemia found all participants achieved neutrophil engraftment a…
A new gene edit reactivates natural red blood cell production, potentially ending the need for lifelong transfusions in adults with severe b…
Methodological analysis reveals biases in heritability estimates from ultra-rare variants in UK Biobank data
Tiny DNA Changes May Shape Your Health
This methodological analysis examined 305,813 unrelated European-ancestry individuals in the UK Biobank to assess biases in estimating herit…
Tiny DNA spelling mistakes once thought too rare to matter actually shape your health, but standard math tools often create false signals ab…
Genetic correlation between kidney function and Alzheimer disease is absent in European and African ancestry cohorts
Why Kidneys and the Aging Brain May Share More DNA Than We Knew
This cohort study examined shared genetic architecture between kidney function and Alzheimer disease in European and African ancestry indivi…
Kidney disease patients face higher Alzheimer's risk because specific genes link the two conditions, with the famous APOE gene playing a key…
Mexican cohort study reports allele frequencies for six obesity-associated genetic variants
Your Genes May Explain Why Weight Loss Feels So Hard
A cohort study of 129 individuals from Mexico City measured allele frequencies for six obesity-associated single nucleotide variants.
Six specific obesity-linked genes in a Mexican population help explain why some bodies store fat more easily than others, mapped for the fir…
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…