"Building the Road to a Cure"

News — rare disease


Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder

Atypical RTT is diagnosed when a child shows some but not all the phenotypes of classic RTT, along with additional supporting criteria. Our team has characterized HNRNPH2-related neurodevelopmental disorder (HNRNPH2-RNDD) in 33 individuals . We sought to further characterize RTT clinical features in this group of individuals by using caregiver report. Based on the survey results, 12 individuals could meet the diagnostic clinical criteria for atypical RTT Syndrome. In summary, individuals with HNRNPH2-RNDD exhibit clinical characteristics that overlap with those of RTT, and therefore, HNRNPH2-RNDD, should be considered on the differential diagnosis list with this clinical picture.

YBRP in Pharmacy Times: The Journey of Commitment to Ultra-Rare Disease Patients

YBRP gets a shout out in this great article by Chris Adams of Cydan, one of the amazing speakers at the 2019 Family Meeting.  The article discusses the important role of parent led organizations and how the biotech and pharmaceutical industries can impact rare disease communities just like ours. (originally published August 2019)