NHGRI Researchers Use New Sequencing Strategies To Discover Rare Inherited Illness Rapidly Strategy Could Benefit Gene Discovery for Thousands of Rare Diseases

A team of researchers from the National Human Genome Research Institute (NHGRI) has demonstrated a new technical strategy that promises to rapidly determine the genetic cause for very rare inherited illnesses. Relying on inexpensive, high-speed sequencing and a newly developed ability to capture pieces of the genome that encode genes, the team diagnosed an extremely rare X chromosome-linked cleft palate syndrome known to affect just two families.