Latest News

Establishing Evidence-based Guidelines for Diagnosis and Management of Liver Disease in Protoporphyrias

A group of clinicians from the

Read More

Establishing Evidence-based Guidelines for Diagnosis and Management of Liver Disease in Protoporphyrias

Congenital Disorders of Glycosylation Over Time: What We’re Learning from a Natural History Study

March 22, 2023

Read More

Congenital Disorders of Glycosylation Over Time: What We’re Learning from a Natural History Study

Patient Spotlight: Franklin and List Families Navigate Life with Congenital Disorder of Glycosylation

June 30, 2022

Read More

The Franklin family at a playground, and Dee List wearing a graduation cap

Patient Spotlight: Estopinan Family Advocates for TK2-Related Mitochondrial DNA Depletion Syndrome

May 26, 2022

Read More

The Estopinan family at an outdoor gathering

Patient Spotlight: Billy Anton Balances Management and Lifestyle with Primary Ciliary Dyskinesia

March 29, 2022

Read More

Patient Spotlight: Felipe Polo-Wood Forges Ahead with Myasthenia Gravis

February 25, 2022

Read More

Patient Spotlight: Mitchell Magyar Makes an Impact on Urea Cycle Disorder Research

December 16, 2021

Read More

Mitchell Magyar with his mother and sister, wearing sunglasses and smiling

Patient Spotlight: Fynan Family Fueled by OI Research

November 16, 2021

Read More

Michelle Fynan, PhD, LMHC

Patient Spotlight: Anthony Anzell Fights Hereditary Hemorrhagic Telangiectasia with Endurance and Education

October 19, 2021

Read More

Anthony Anzell, PhD