NBS Connect http://nbsconnect.org
has been designed as a resource for those affected by certain disorders included in the newborn screening (NBS) panel. Extensive development of the registry will occur via a phased approach. The registry was launched with NBS-PKU Connect
for Phenylketonuria, then NBS-MSUD Connect
for Maple Syrup Urine Disease. The next phase is now available with. NBS-TYR Connect
for Tyrosinemia. 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 (ACMG)
We encourage patients affected with PKU, MSUD and Tyrosinemia to visit the website at www.nbsconnect.org , register and complete their participant profiles. Participants will have access to disorder specific education materials, information on the latest research and clinical trials, recipes, interactive health tracking systems, “Ask an Expert” tools and more. We hope you will take advantage of the resources provided which will empower you to make more informed healthcare decisions.
This registry will be an asset both for forming connections between consumers and for building a qualitative database for future research.
If you have any questions, please email the project manager Yetsa Osara at firstname.lastname@example.org.