Decrease in sedentary lifestyle associated with longer telomere length
1. Reduced time spent sitting by elderly individuals was significantly associated with telomere lengthening in blood cells. 2. Increases in...
Genetics
Reports of high-impact genetics studies by medical professionals
Transfusion therapy linked with reduced neurovascular disease in sickle cell anemia
1. In children with sickle cell anemia and silent infarcts, the incidence of recurrent infarcts was significantly lower in the...
Exome sequencing potentially valuable in diagnosing familial cerebellar ataxias
1. Clinical exome sequencing (CES) is a method of analyzing the protein-encoding genes of an entire genome. 2. CES may...
Marked decline in cystic fibrosis-related mortality over 10 years
1. From 2000 to 2010, adjusted mortality for cystic fibrosis (CF) patients dropped by 17% (1.8% per year). 2. Median...
PALB2 mutations shown to be important risk factor for breast cancer
1. Women with PALB2 mutations were 4 to 9 times more likely to be diagnosed with breast cancer when compared...
Proposed need for regulation of direct-to-consumer genetic testing
1. Direct to consumer genetic tests have increased in popularity due to technology, access, and affordable cost, and present both...
Genetic and non-genetic risk factors associated with pediatric celiac disease [TEDDY study]
1. Children with the HLA haplotype DR3-DQ2 were at a higher risk for developing celiac disease autoimmunity and celiac disease...
Whole exome sequencing effective at identifying mitochondrial pathogenic mutations
1. The genomic basis of mitochondrial disease is often abstruse and multifactorial. 2. Whole-exome sequencing was able to pinpoint previously...
Genetic and environmental factors linked with sagging eyelids
1. Age, male sex, lighter skin color, and high BMI were found to be risk factors for sagging eyelids. 2....
Genetic variant linked to poor patient survival following lung transplantation
Image: PD 1. A specific TT-genotype variant that encodes the immunoglobulin gamma (IgG) receptor was associated with increased patient mortality...