The Newborn Screening Connect patient registry (NBS Connect) is a web-based self-report patient registry curated by professionals. This resource is for those affected by certain disorders included in the newborn screening panel. 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 inborn errors of metabolism.

Extensive development of the registry is occurring via a phased approach which began with the launch of NBS-PKU Connect for Phenylketonuria (PKU). We have now concluded beta testing and we are launching the next phase with NBS-MSUD Connect for Maple Syrup Urine Disease (MSUD). We will continue expanding the registry to include other disorders in the NBS panel recommended by the American College of Medical Genetics (ACMG).

NBS Connect brings together patients, families, parent organizations, professionals, and industry in one forum.  Professionals and industry are able to share clinical trial information with patients, professionals have access to de-identified patient survey data, patients and families are able to connect with one another and access useful tools such as recipes and educational resources.

We ask all adult patients and parents or guardians of individuals with PKU or MSUD, to visit the website at, to 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. Patients who take advantage of the resources provided, become empowered to make more informed healthcare decisions.

This registry is an asset both for forming connections between consumers and for building a qualitative database for future research. Interest in this project continues to grow and is currently gaining an international presence.

If you have any questions about the patient registry or require brochures for distribution, please contact Yetsa Osara, MPH at This email address is being protected from spambots. You need JavaScript enabled to view it. or 404-778-0553. Register at today!



In the 2016 survey of the membership of the MSUD Family Support Group, research for improved treatments and potential cure was rated “most important” by 90% of the responding members.

Read More

Cambrooke Foods Hosts Local Event

Cambrooke has been doing cooking demonstrations, social meet ups and educational events for patients, their families and the clinician’s that support them for many years.

Read More

NBS-MSUD Connect: Advancing MSUD Research And More


Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community.

Read More

Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

Read More

20th Annual White Horse Beach Charity Golf Tournament

On July 29, 2017 Charlie O’Rouke and his committee held the 20th Annual White Horse Beach Charity Golf Tournament.

Read More


As our legislators headed home for their August break, Rare Disease Legislative Advocates got busy.

Read More


A Child's Life

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates