monogenic disease
PreventionGenetics Nabs FDA Approval for Obesity Drug Companion Diagnostic
The test detects variants in the POMC, PCSK1, and LEPR genes to identify individuals eligible for treatment with Rhythm Pharmaceuticals' recently approved Imcivree.
Preimplantation Genetic Testing Could be Informed by Whole-Genome Reconstruction, Study Shows
Researchers demonstrated the potential for reconstructing variant patterns across the genomes of sibling embryos, using the data to estimate polygenic and monogenic disease risk.
Sequencing of Newborns Does Not Create Negative Psychosocial Effect on Families, Study Finds
The researchers also found that there was no lasting psychosocial harm among families who received a monogenic disease risk finding for their infant.
The Gene Curation Coalition, led by the Broad Institute, is serving as a clearinghouse of sorts for curated datasets on Mendelian disorders.
The panel also said that if any nation does decide to allow germline genome editing, its use should be limi