About Us

History

Nationwide newborn screening (NBS) was initiated across the U.S. in the 1970’s with only a single metabolic disorder, phenylketonuria (PKU). Now, the American College of Medical Genetics (ACMG) recommends screening for more than 50 disorders in every newborn. Most of the disorders diagnosed by NBS are exceptionally rare.  As a result, patients and the parents of those diagnosed with these disorders can feel isolated and disconnected, as if they are alone in dealing with a disorder.  Furthermore,  medical treatment options and healthcare facilities are lacking for many diagnosed individuals. With this in mind, we envisioned a solution to connect individuals diagnosed through NBS, and to provide information and tools to assist in living with and managing a diagnosis.  That solution, NBS Connect, was launched in 2011 by Emory University after years of planning and grassroots work by professionals, patients, and families.  In addition to serving patients and families, NBS Connect aims to advance our knowledge and improve the lives of those diagnosed with these disorders.

What is NBS Connect?

NBS Connect is a multi-use patient (parent/guardian)-entered data registry.  It was designed with the idea of connecting patients and providing information and tools for living with and managing NBS diagnosed inherited metabolic disorders. In addition, layers of capabilities have also been incorporated for research use.  By collecting data on diagnosis, treatment, symptoms, outcomes, barriers to care, and quality of life, we hope to eliminate gaps in service and improve access to care while establishing best standards of practice for clinical management of disease and connecting families to research opportunities.  

Who We Are

We are parents, patients, doctors, counselors, administrators, nurses, nutritionists, entrepreneurs, university faculty and patient advocates. Our novel approach to improving the lives of individuals is based on the idea that the most effective healthcare strategy requires a varied group of experts and open communication between patients, academia and industry.

NBS Connect Operational Team:

  • Kyle Brown, CEO, Patient Crossroads, CA; Registry developer
  • Rani Singh PhD, RD, LD, Emory University, GA; Grant Principal Investigator (PI)
  • Yetsa Osara, MPH, Emory University, GA; Project Manager (current)
  • Sarah Eichelberger, RD, Emory University, GA; Nutrition Coordinator (previous)
  • Heather Zhou, RD, LD Nutrition Consultant (current)

NBS Connect Organizers and Partners

  • Emory University, Department of Human Genetics
  • Health Resources and Services Administration (HRSA)
  • Patient Crossroads
  • Nutricia (Sponsor 2012, 2013, 2014, 2015, 2016)
  • Perkin Elmer (Sponsor 2013)
  • Vitaflo (Sponsor 2012, 2014, 2015)
  • National PKU Alliance (Sponsor 2012)
  • Rare Disease Therapeutics (Sponsor 2012)
  • Hyperion (Sponsor 2012, 2014, 2015)
  • MSUD Family Support Group (Sponsor 2014, 2015)
  • FOD Support Group (Sponsor 2012)
  • Organic Acidemia Association (Sponsor 2012, 2016)
  • Georgia PKU
  • The Canadian PKU and Allied Disorders

For sponsorship dates, the fiscal year begins on October 1 and ends on September 30 of the following year.

This patient registry could not have been possible without feedback and guidance from several groups including academia, industry and professional organizations. Everyone involved is motivated by common interests, passionate about patient health, and dedicated to unifying resources in the field of inherited metabolic disorders. Most importantly, we owe much gratitude to the tremendous support from patients and families.