Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis
Researchers aimed to identify rare genetic variations associated with adolescent idiopathic scoliosis (AIS) by examining the DNA of 60 CARTaGENE participants (healthy controls) and individuals from other sources. They found that the FAT3 gene, while not statistically significant on its own, showed an excess of rare genetic changes in AIS patients, and further investigations revealed specific variants within FAT3 that were more common in severe AIS cases compared to milder cases and healthy individuals, suggesting that FAT3 may play a role in the development of AIS.
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population
This study aimed to identify specific genetic mutations associated with increased risk of ovarian cancer. The mutations they discovered were found in many early-onset cases, particularly RAD51D, suggesting their role in hereditary ovarian cancer and the importance of the genes in the development of this disease.
Evaluation of Adiposity and Cognitive Function in Adults
Researchers sought to undercover the association between adipose tissue (amount and distribution) and cognitive scores. Using data from 9,189 participants, they found that higher visceral adipose tissue and body fat percentage correlated with increased vascular brain injuries and cardiovascular risk factors, as well as lower cognitive scores.
Predictors of long-term use of prescription opioids in the community-dwelling population of adults without a cancer diagnosis: a retrospective cohort study
This study aimed to identify risk factors for and predictors of long-term use of prescription opioids in the community-dwelling population of adults without a diagnosis of cancer, to inform practice change at the point of care. It was found that limiting the initial supply to no more than 7 days and limiting doses to 90 MME/day or less are actions that could be undertaken at the point of care to prevent long-term use.
Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer
This study investigated if MRE11A is a true predisposition gene for hereditary breast and ovarian cancer. Investigations suggested that the identified variant is not associated with an increased risk of developing breast or ovarian cancer, and suggests a lack of clinical utility of MRE11A testing in HBOC, at least in the White/Caucasian populations.