Amyotrophic lateral sclerosis (ALS) is the most frequent adult-onset motor neuron disease, and it is pathologically related with frontotemporal dementia (FTD). Genetic studies have identified C9ORF72 as a major genetic cause of ALS/FTD. Further genetic analyses and validation studies have identified some other genes associated with ALS risk, highlighting among them the NUP50 gene, which encodes nuclear pore complex protein Nup50.
Sequencing of a total of 16 individuals from 4 multiplex families representing rare and diverse anorectal malformation (ARM) types, as well as 3 surgically resected tissue specimens, resulted in the identification of a novel paternally inherited heterozygous CDX2 variant [c.722A>G (p.Glu241Gly)].
Results from a study carried out by the COVID-19 Host Genetics Initiative show that rare deleterious variants in the immune-system gene TLR7 make carriers more than five times more likely to have a severe SARS-CoV-2 infection. The TLR7 gene encodes Toll-like receptor 7 protein, which plays a protective role in the immune system by identifying pathogens and activating innate immunity.
Cell cycle-associated protein 1 (CAPRIN1) is an ubiquitously expressed protein, the levels of which are usually high in tissues with an elevated cell turnover; it is also abundant in the brain, where it regulates the transport and translation of synaptic protein mRNA.
Scientists have found a rare genetic variant carried by 1 in 3,000 people, which they say has a larger impact on the risk of developing type 2 diabetes than any other genetic defect identified to date.
Anorexia nervosa, Cynthia Bulik told BioWorld, has a long-term recovery rate of 25% and “the highest fatality rate of any psychiatric illness.” Those dismal statistics hint at the challenging nature of anorexia nervosa, but also at the shortcomings of current treatment options.
