People in Pennsylvania living with a rare disease, such as aromatic L-amino acid decarboxylase (AADC) deficiency, face a long…
Articles by Patricia Inácio, PhD
Engineers and healthcare providers at the University of Illinois are joining efforts to accelerate the diagnosis of rare diseases such…
Ambry Genetics announced a new genetic test designed to speed the diagnosis of rare genetic conditions such as…
Genedx said changes to its whole genome sequencing (WGS) services will allow for faster diagnoses for patients with rare…
GeneDx is teaming up with Epic Aura to make its genetic sequencing techniques widely available for newborns in…
TeleRare Health has launched a video-based virtual clinic exclusively for people in the U.S. who…
PTC Therapeutics has submitted its application seeking the approval of Upstaza (eladocagene exuparvovec) — a one-time gene therapy to correct the…
The patient-centered healthcare data generation company PicnicHealth has acquired AllStripes, a platform that’s focused on gathering…
Measuring 3-O-methyldopa (3-OMD) levels in the dried blood spots used in newborn screening programs could help in diagnosing aromatic…
People in East Asia have a higher frequency of variants in the DDC gene — the cause of aromatic l-amino…