Latest News

Phelan-McDermid Syndrome Over Time: What We’re Learning from a Natural History Study

To learn more about Phelan-McDermid syndrome, the Developmental Synaptopathies Consortium is conducting a natural history study, “Mapping the Genotype, Phenotype, and Natural History of PMS.”

Patient Advocate Spotlight: Kristen Hutchinson Spytek Accelerates Awareness and Research in Congenital Cytomegalovirus

October 18, 2022

Patient Advocate Spotlight: Erica Barnes Fights for Children with Metachromatic Leukodystrophy and Other Rare Diseases

August 30, 2022

Patient Advocate Spotlight: Kristin Anthony Brings Expertise in PTEN Hamartoma Tumor Syndrome Advocacy to New Role as Chair of RDCRN Patient Groups

August 5, 2022

Patient Advocate Spotlight: Andrea Miller Creates Global Connections for Congenital Disorders of Glycosylation

July 7, 2022

Andrea and her daughter, Bianca, celebrating World CDG Awareness Day

Patient Advocate Spotlight: Mark Rudolph Supports and Connects the Dystonia Community

May 17, 2022

Patient Advocate Spotlight: Connie Lee Creates Connections for Cerebral Cavernous Malformation Research

October 26, 2021

Patient Advocate Spotlight: Kristen Wheeden Steps into Lead Role for RDCRN Patient Groups

August 2, 2021

Kristen Wheeden and her son, Brady, standing on their porch

Consortium Spotlight: New Consortium Targets Congenital and Perinatal Infections

January 26, 2021