ATXN2 repeat lengths of 30 or more correlate with increased ALS risk and shorter diagnosis times
Genetic markers help doctors identify specific risks for patients with ALS
This meta-analysis of 19 studies and the Project MinE dataset identifies 30 repeats as the lower limit of ATXN2 repeats defining significant…
Researchers found that a specific genetic marker helps identify who is at higher risk for ALS and helps predict how fast the disease may pro…
EZH2, CDK1, and AURKA risk score identifies high risk for biochemical recurrence in prostate cancer
Three specific genes may help predict prostate cancer recurrence
This guideline provides an in silico analysis and experimental validation of a three-gene risk score for prostate cancer. The model demonstr…
A new risk score using three specific genes helps doctors identify which prostate cancer patients are at higher risk for the cancer returnin…
Multidisciplinary management of a CHD7 gene variant associated with favorable long-term outcomes in CHARGE syndrome
A girl with CHARGE syndrome survives despite a rare genetic variant
This case report describes a female patient with CHARGE syndrome and a specific de novo CHD7 mutation. The patient achieved significant impr…
A girl with CHARGE syndrome survived into school age despite having a specific genetic variant that previously led to death in other infants…
GWAS identifies 21 unique genes tied to balance, vertigo, and dizziness
New genetic mapping reveals how the body controls balance
This meta-analysis of GWAS and transcriptomic data from 781,273 individuals (96,517 cases) identifies 21 unique genes associated with dizzin…
Researchers identified 21 unique genes and a specific mechanism that may explain why people experience dizziness and balance issues.
253 autism-associated genes identified via rare coding variation in 62,429 individuals
253 genes linked to autism may also affect other conditions
This meta-analysis of exome sequencing data from over 1.5 million individuals identified 253 autism-associated genes and 497 genes impacting…
A massive genetic study found 253 autism-linked genes, many tied to other brain and body conditions, opening new paths for understanding.
Somatic passenger mutation burden is associated with hematologic malignancy and mortality in large genomic cohorts
Genetic markers linked to blood cancer and higher mortality risk
This meta-analysis of 791,067 whole-genome sequences identifies 81 loci, including 42 novel loci, associated with somatic passenger mutation…
New research identifies specific genetic markers that link a high burden of mutations to blood cancer and increased risk of death.
Genetic cause identified in fewer than half of congenital heart disease cases
Genetic causes identified in fewer than half of heart cases
This narrative review synthesizes current knowledge on the genetic basis of congenital heart diseases, noting that a definitive or candidate…
Identifying the genetic roots of congenital heart disease is difficult, as a clear genetic cause is found in less than half of all cases.
SMARCA4 frameshift mutations cause Coffin-Siris syndrome type 4 with high intellectual disability prevalence
SMARCA4 Mutations Linked to Autism and Intellectual Disabilities
This case report and literature review characterizes a novel SMARCA4 frameshift mutation in patients with Coffin-Siris syndrome type 4. The …
A new mutation in the SMARCA4 gene is linked to Coffin-Siris syndrome type 4, which often involves autism and intellectual disabilities.
Tumor immune microenvironment remodeling in osteosarcoma may influence risk of pathological fractures
Immune Environment Changes Linked to Bone Fracture Risk in Osteosarcoma
This systematic review examines how the tumor immune microenvironment (TIME) impacts bone health and fracture risk in patients with osteosar…
A new look at the immune environment around tumors shows how specific cells may contribute to bone destruction and fracture risks in osteosa…
cfDNA-based NIPT demonstrates high sensitivity and specificity for common fetal trisomies during prenatal screening
Prenatal Blood Test Highly Accurate for Common Trisomies
This systematic review of 20 studies involving more than 67,500 individuals evaluates the diagnostic performance of cfDNA-based NIPT. The an…
A new review finds cell-free DNA prenatal tests are very accurate for Down syndrome, but less so for other conditions.
Printing orientation significantly affects mechanical properties and accuracy of 3D-printed dental prostheses
Printing orientation affects strength and accuracy of 3D dental prostheses
This systematic review of approximately 20 in vitro studies examines how printing orientation impacts the performance of 3D-printed full-cov…
The way a 3D printer positions a dental prosthesis can change its strength and fit, making certain angles better for long-term durability.
Genetic liability for cannabis use is causally linked to increased risk of esophageal and lung cancers
Genetic data reveals link between cannabis use and certain cancers
This meta-analysis using two-sample Mendelian Randomization evaluates the causal link between genetic liability to cannabis use and specific…
New research using genetic markers shows that a person's genetic tendency toward cannabis use may impact risks for lung, esophageal, and pan…