Lurie Children’s Hospital First in Illinois to Be Designated as a Rare Disease Center of Excellence by National Organization for Rare Disorders (NORD)

Ann & Robert H. Lurie Children’s Hospital of Chicago is the first in Illinois to receive designation as a NORD Rare Disease Center of Excellence, becoming one of 40 U.S. academic medical centers selected to be a part of the first-of-it-kind national network of U.S. medical institutions dedicated to diagnosing, treating, and researching all rare diseases. The network is led by the National Organization for Rare Disorders (NORD) and is designed to foster knowledge sharing between rare disease experts across the country to help meet the unmet needs of more than 25 million Americans living with a rare disease. 

Unlike other more common serious diseases like cancer and heart disease, people living with rare diseases face many challenges in finding a diagnosis and accessing quality clinical care. Because patient numbers battling a specific rare disease are so small (fewer than 200,000), physician expertise and research and development funds are sorely lacking. As a result, 95 percent of the more than 7,000 different rare diseases are without treatments. 

“Lurie Children’s is excited to join the NORD network in our pursuit to optimize clinical outcomes and provide comprehensive lifelong care to patients with rare diseases through our partnership with Northwestern Medicine,” said Carlos Prada, MD, Division Head of Genetics, Genomics and Metabolism at Lurie Children’s and Director of the NORD Rare Diseases Center of Excellence. “We know it takes more than medicine to care for children with rare diseases. With compassion and understanding, we help patients access advanced diagnostics and multidisciplinary expertise, as well as offer opportunities to receive the most cutting-edge treatments through participation in clinical trials. We have one of the largest clinical trial units in the country for genetic and rare diseases.”

Dr. Prada is Chair of the Genomics Network and Medical Director of the RARE (Reassess, Analyze, Research, Empower) program at Lurie Children’s, which is a medical home for individuals with a suspected genetic diagnosis despite exhaustive non-diagnostic testing. He also is the Translational Research Director at Lurie Children’s and holds the Valerie and George D. Kennedy Research Professorship in Human Molecular Genetics. His leadership team for the NORD Rare Disease Center of Excellence includes Co-Directors Elizabeth McNally, MD, PhD (Northwestern University), Meredith Harris, MD (Lurie Children’s) and Allison Weisman, CGC (Lurie Children’s). Dr. McNally is an internationally recognized cardiovascular geneticist and Director for the Center for Genetic Medicine at Northwestern. Dr. Harris is a nephrologist at Lurie Children’s with interest in congenital anomalies of the urinary tract. Ms. Weisman is a genetic counselor with expertise in neurofibromatosis, disorders of sex development, fertility preservation, and leader in transitioning from pediatrics to adult care.

NORD has designated qualified world-class academic clinical centers like Lurie Children’s across the U.S. to improve rare disease patient care by connecting rare disease patients to appropriate specialists regardless of disease or geography. These Centers provide a much-needed national infrastructure to help accelerate advancements in rare disease diagnosis, treatment, and research.

Each center was selected by NORD in a competitive application process requiring evidence of staffing with experts across multiple specialties to meet the needs of rare disease patients and significant contributions to rare disease patient education, physician training, and research.

The NORD Rare Disease Centers of Excellence program is formulated to achieve better outcomes for all members of the rare disease community. This collaborative partnership strives to push the rare disease field forward by establishing and implementing new standards of care and innovating around new treatments, therapies, and research. 

“Right now, far too many rare diseases are without an established standard of care. The Rare Disease Centers for Excellence Program will help set that standard – for patients, clinicians, and medical centers alike,” said Ed Neilan, Chief Scientific and Medical Officer of NORD. “We are proud to announce Lurie Children’s as a NORD Rare Disease Center of Excellence and look forward to their many further contributions as we collectively seek to improve health equity, care, and research to support all individuals with rare diseases.”

For more information about the NORD Rare Disease Centers of Excellence Program and the full list of Rare Disease Centers of Excellence, visit https://rarediseases.org/.

Rare Disease Facts and Impact:

1. It’s estimated that 25 – 30 million Americans have a rare disease.

(Source: https://ncats.nih.gov/files/NCATS_RareDiseasesFactSheet.pdf)

2. Half of individuals with a rare disease are children, and of those one in three will die before their fifth birthday.

(Source: https://ncats.nih.gov/files/NCATS_RareDiseasesFactSheet.pdf and https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185816/)

3. Diagnosis can take five years or more and overall medical costs are three to five times higher than non-rare diseases.

(Source: https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01026-w)

4. Patients with rare disease incur nearly half of all healthcare costs in the U.S.

(Source: https://www.aurorahealthcare.org/research-news/patients-with-rare-diseases-incur-nearly-half-of-all-health-care-costs-in-u.s)

About Lurie Children’s

Ann & Robert H. Lurie Children’s Hospital of Chicago is ranked as one of the nation’s top children’s hospitals by U.S. News & World Report. It is the pediatric training ground for Northwestern University Feinberg School of Medicine. The Division of Genetics, Genomics and Metabolism at Lurie Children’s aims to achieve the highest standards in patient care, research and education. The clinical team provides diagnostic, counseling, and treatment services in multiple areas with direct oversite by highly trained specialists who are recognized nationally and internationally for their expertise. Research at Lurie Children’s is conducted through Stanley Manne Children’s Research Institute.

About the National Organization for Rare Disorders (NORD) With a 40-year history of advancing care, treatments and policy, the National Organization for Rare Disorders (NORD) is the leading and longest-standing patient advocacy group for the more than 25 million Americans living with a rare disease. NORD, a 501(c)(3) nonprofit, is dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 330 patient organization members, is committed to improving the health and well-being of people with rare diseases by driving advances in care, research and policy. For more information, please visit https://rarediseases.org/.