Five research groups collaborated to analyze 150,000 people’s genetics, including patients with autism spectrum disorder (ASD), developmental delay, and schizophrenia. They identified 72 genes very strongly linked to ASD and 250 other genes strongly linked to ASD.
ACMG argued that the effectiveness of telegenetics during the coronavirus pandemic has been sufficiently verified and that telegenetics services should be expanded. And ACMG has published considerations for expanding telegenetics for policymakers. Telegenetics is a form of telemedicine, which is a genetics-related telemedicine service provided to patients by a health care provider or genetic counselor.
In the Philippines, legislation to support rare diseases was passed in 2016. However, at a recent rare disease policy improvement discussion, Professor Victorio Andres Manhit argued that this system has not been fully implemented and that more support is needed. Sonny Angara, chairman of the Senate Finance Committee, said the budget was insufficient and offered incentives to strengthen public-private partnerships.
Researchers at the Wellcome Sanger Institute and the Broad Institute of MIT and Harvard have identified variants in 10 genes that increase susceptibility to Crohn's disease. They compared the exome sequences of 30,000 patients with Crohn's disease to the exome sequences of 80,000 people who did not have Crohn's disease.
Researchers in Taiwan have released the rare skin disease database (RSDB) for repurposing research for rare skin disease treatments. Researchers collected genetic information, therapeutic information, and phenotypic information related to 891 rare skin diseases from multiple databases.