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…
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 …
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…
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.
Nearly half of Russian FSHD patients first notice shoulder blade weakness, while others start with facial symptoms or a classic childhood fo…