Gabriell, 26 years old, PA Hi all! My name is Gabriell Snyder. I’m 26 years old and was the first case of PA diagnosed through newborn screening in the state of Massachusetts. My first few years on this earth were
Organic Acidemia Genetic Testing 101 Genetic testing is a powerful tool for understanding inherited disorders. It can help clinicians diagnose a condition or confirm a diagnosis made with other tests. Patients with organic acidemias are often first identified through newborn
Eli, 4.5 years old, GA-1update In the Fall 2024 Newsletter, Mike and Sandra Wagner shared their story about their son, Eli. Diagnosed with GA1 through newborn screening, Eli suffered a metabolic crisis at just 5 months old. By the time
Emerald, GA-1 Update Emerald is a vibrant, determined three-year-old who happens to live with Glutaric acidemia type 1 (GA1), a rare metabolic disorder that requires careful, lifelong management. While her diagnosis shapes the structure of our days, it does not
Rare Disease Day 2026 Saturday, February 28, 2026 was Rare Disease Day. The OAA community shone a light on organic acidemias by showing up in stripes, OAA rare disease day shirts, and smiling faces.
Moderna mRNA clinical trial for PA update An update from Moderna on the clinical trial for an mRNA therapy for propionic acidemia.
OAA Welcomes Two New Board Members The Organic Acidemia Association is welcoming two new board members, Jenni Jaehnke and Steph Mustin. Jenni Jaehnke is the parent of a son with Propionic Acidemia. Having had a liver transplant when he was
Glutaric Aciduria Type 1 Natural History Study Dr. Curtis Coughlin is partnering with a pharmaceutical company to conduct a natural history study of glutaric aciduria type 1 (GA-1). The goal of this study is to better understand this disorder and
Hope to see you in Minnesota in June 2027!More information to come….save the date!
GA-1 Natural History Webinar February 25, 2026 – 12PM MDTZoom link: https://ucdenver.zoom.us/j/98886758263 The Coughlin Lab, in partnership with a pharmaceutical company, is conducting a natural history study of Glutaric Acidemia Type 1 (GA1) to improve our understanding of disease progression,
