News

As of 3/25/2020 this year’s 2020 International SSADH Conference planned for July has been postponed, due to the evolving public health emergency. The safety of attendees is our top priority and always comes first. We sincerely apologize for any inconvenience this may cause and look forward to hosting the conference…

We are pleased to announce that we have opened sites in Barcelona, Spain and Oslo and Gottingen, Germany for patients to participate in the SSADH Natural History Study. Patients willing to participate in the SSADH Natural History Study from Spain should get in touch with Dr. Natalia Juliá (Neurologist) who…

We want to thank all those who participated in the 21st Annual Chip for Charity golf outing. Those of you who were able to join us know that we didn’t have our usual great weather, and even though it was misty, foggy and rather chilly, it didn’t keep anyone away.

Gamma-Hydroxybutyrate Content in Dried Bloodspots Facilitates Newborn Detection of Succinic Semialdehyde Dehydrogenase Deficiency. Further, development of a first-tier screening method for SSADHD employing metabolites currently measured (amino acids, acylcarnitines, creatine, guanidino species) is under study. Madalyn Brown, PhDUniversity of Washington State

Washington, DC, July 19, 2019—The National Organization for Rare Disorders (NORD)®, the leading independent nonprofit organization representing the over 25 million Americans with rare diseases, announces the appointment of four new members to its Board of Directors, effective immediately. Joining the Board of Directors are Kay Holcombe, Neil Horikoshi, Phillip…

We have the maximum number of patients that we need to visit Boston Children’s Hospital for the Natural History Study.  We are now working on getting families to register for the international portion of the Natural History Study.  That side of the study is less involved.  We are working with…