A "genomic-first" approach to screening for rare genetic disorders—identifying specific genetic variants and then studying ...
Attached to nearly every human cell is an antenna-like structure known as the primary cilium, which senses the cell's ...
Since the 1960s, Texas has screened newborns for a variety of rare diseases — like sickle cell anemia and cystic fibrosis.
AZoLifeSciences on MSN
Genomic-First Approach Offers Potential for Earlier Diagnosis of Rare Disorders
A "genomic-first" approach to screening for rare genetic disorders -identifying specific genetic variants and then studying associated traits and symptoms - can identify these conditions earlier and ...
News-Medical.Net on MSN
Errors in EPG5 gene implicated in rare infant condition and adult neurodegenerative diseases
Errors in a gene known to cause a serious neurodevelopmental condition in infants are also linked to the development of Parkinson's disease in adolescence and adulthood, according to new research.
New research links EPG5 gene errors to childhood brain disease and Parkinson's, revealing insights for therapy development.
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