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!
OAA community members take on the NORD research summit Several members of the OAA community attended this year’s NORD summit in Washington, DC Oct 19-21. Irfan Patel and his son Yusuf helped recruit volunteers for the RareAction Network, a NORD-led
Meet your new OAA Research Program Manager I’m Haley Stubbs, the new Research Program Manager for OAA. Here are some things to know about me! I earned my PhD from Vanderbilt University in biochemistry and structural biology. I am also
We’ll be in touch soon!