The thickness of the retinal nerve fiber layer, or RNFL — a light-sensitive tissue layer of the eye — correlates with the levels of the amino acid phenylalanine and with ... Read more
Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient ... Read more
Genetic sequencing alone is not sufficient for newborn screening of metabolic disorders such as phenylketonuria, a new study indicates. The study, “The role of exome sequencing in newborn screening ... Read more
The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. ... Read more
When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the ... Read more
The National Organization for Rare Disorders (NORD) has awarded 19 grants to nonprofit organizations, including the National PKU Alliance, as part of its COVID-19 Rapid Response Leadership Series program. The grants are intended ... Read more
Long-term treatment with Palynziq (pegvaliase-pqpz) led to a sustained reduction of blood phenylalanine levels in adults with phenylketonuria (PKU) for more than two years, an analysis of three clinical trials has ... Read more
The enzyme substitution therapy Palynziq (pegvaliase-pqpz) lowered blood phenylalanine levels in most adults with phenylketonuria (PKU) treated at the PAL Clinic of Boston Children’s Hospital, a study reported. Side effects were ... Read more
The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease ... Read more
Women with phenylketonuria (PKU) can deliver healthy babies if they maintain an appropriate diet that keeps blood phenylalanine levels in normal range prior to and throughout pregnancy, a study from ... Read more
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