NBS Patient Registry-NBSConnect
We would like to encourage all individuals and their families affected with PKU and MSUD to join the newborn screening patient registry at nbsconnect.org.
The Newborn Screening Connect patient registry (NBS Connect) is a project of the Southeast Regional Collaborative (SERC), partially funded by the Health Resources and Services Administration (HRSA). NBS Connect is a web based, self-reported patient registry curated by professionals. The registry has been developed by national experts in the field of NBS disorders at the Department of Human Genetics at Emory University, and serves as a support network for parents, guardians, and individuals with inherited metabolic disorders.
Extensive development of the registry is occurring via a phased approach, which began with the launch of NBS-PKU Connect for Phenylketonuria, the next phase is now available with NBS-MSUD Connect for Maple Syrup Urine Disease. Expansion of the registry will continue to include other disorders in the recommended uniform screening panel (RUSP), endorsed by the American College of Medical Genetics.
NBS Connect brings together patients, families, parent organizations, and professionals in one forum. Medical and research professionals who register, gain access to a qualitative de-identified database for future research, and are able to share clinical trial information with patients. Participating families are able to connect with one another and access useful tools such as low protein recipes, interactive health tracking tools, educational resources, professional support, and much more. More information on this resource can be accessed here.
Register at nbsconnect.org today!