In Review: Rare and Neglected Diseases Symposium 2022

Author: Addy Bali

April 11th, 2022: Neurometabolic disorder, Non Ketotic Hyperglycinemia (NKH).


April 11th marked the second session of the 2022 Rare Disease Symposia series. It was an inspiring blend of patient perspectives and expectations as well as exciting research advances in the rare neurometabolic disorder Non Ketotic Hyperglycinemia (NKH). The patients were eager to learn about the new possible therapies that are being researched and the researchers were motivated to pursue research upon hearing patient needs. Dr. Rebecca Wingert, Elizabeth and Michael Gallagher Associate Professor, chaired and moderated all sessions.


There were two Patient Leadership Panels of important stakeholders in NKH.   They comprised of Patrick and Michelle Sarb (ND-NKH), Kristin Archibald (NKH Crusaders), Chancee Culp (Lucas John Foundation), Heidi Leslie (Brodyn’s Friends), Joe Urban, Amanda Almany (Nora Jane Foundation), Tom Swoboda (John Thomas Foundation), Mary Fitzpatrick (Fighting for Fiona and Friends), Morgan Schmitz Cynthia Graham and Ed Thigpen. Pat Sarb spoke about his grandson’s diagnosis with NKH caused him to persuade Dr. Kasturi Haldar, Director CRND, to start NKH research at the University of Notre Dame. The panelists spoke about the importance of their relationships and support for NKH research at Notre Dame. They also discussed the immense support they provide for newly diagnosed patients.  This was especially important in the context of impact of COVID-19 on patients and their families. All the panelists agreed on the burden of extra precautions needed to protect their children/grandchildren with NKH, but they nonetheless keep working hard to raise support for NKH research.


There were three research panels that respectively focused on NKH research in zebrafish, mice and clinical studies Dr. Rebecca Wingert presented her labs findings on effect of NKH disease in the kidneys as well as the brain of zebra fish.  Their studies show for the first time that increased glycine (a major consequence of genetic defects that lead to NKH) have detrimental effects on the development of the brain and the kidney, showing the power of the zebrafish model to make important new discoveries.  Alejandro Lopez Ramirez (graduate student), Caroline Bickerton (senior undergraduate), and Adviti Bali (senior undergraduate), from the Haldar lab spoke on their findings in mouse models of NKH. They presented the first ever and exciting studies on liver disease in NKH as well as successes with gene therapy in treating both metabolic and neurological NKH.  Dr. Johan Van Hove, Professor, University of Colorado and a clinician specialist in NKH spoke on his studies on tracking glycine, serine, and threonine metabolism in NKH patients that could help to improve diagnoses of severe and attenuated disease, that remains a challenge in NKH.


Thanks to all of the presenters, panelists, and audience members for helping to make the NKH session at the 2022 Notre Dame Rare and Neglected Diseases Symposium a tremendous success!


*The Bumblebee is the mascot of the NKH community!  According to the laws of aerodynamics, bumblebees are not designed to fly. Their bodies are too heavy for their little wings. And yet, they fly. They don’t know that they are not meant to fly so they just keep on keeping on. Because of this, the NKH. community has adopted the bumble bee as one of their own, a little reminder to keep on keeping on. Every NKH parent is told their babies aren’t meant to live, and yet they do.