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Pediatric Rheumatology
Comprehensive Rare Disease Care
We provide comprehensive clinical care, innovative trials, and family support to accelerate treatments and improve the lives of those with rare genetic conditions. The Rare Disease Therapeutics Program brings together expert care, access to innovative therapies, and meaningful family support. As a NORD Rare Disease Center of Excellence, we provide care coordination, connect patients with emerging treatments and clinical trials, and foster collaborations that drive new discoveries in rare disease research.
NORD Center of Excellence
Reimagining the Future of Rare Disease Care & Research
At the U-M Medical School, we believe every child with a rare disease deserves the best possible care and support. Our forward-thinking and dedicated division members are proud to be a NORD Rare Disease Center of Excellence institution. This prestigious title sets us apart as the only institution in Michigan, joining the ranks of 40 other academic medical centers across the United States.
Together, NORD’s Rare Disease Centers of Excellence care for thousands of rare disease patients and are at the cutting edge of some of the biggest medical and scientific breakthroughs.
As a member of this collaborative network, we are uniquely positioned to diagnose, treat, and conduct cutting-edge research on rare diseases. It is our hope that through this network we can shorten time to diagnosis, improve quality and access to care and accelerate research projects to develop new treatments and more clinical trials.
Our dedicated team is committed to working with eligible parents to ensure they have access to the latest treatments and therapies. Together, we strive to make a meaningful difference in the lives of those affected by rare diseases.
The NORD community includes patients, family members, clinicians, and researchers united by a single purpose -- solve the greatest challenges and unmet needs in rare disease patient care, treatment, and research.
Rare Disease Therapeutics Program
The Rare Disease Therapeutics Program was created in 2023 with the goal of creating a destination program for the evaluation and initiation of emerging therapies for patients with rare genetic diseases, providing care coordination for enrolled patients and developing clinical research questions revolving around emerging therapeutics.
Therapies & Clinical Trials
New Therapies:
- Vosoritide for achondroplasia
- Trofinetide for Rett syndrome
Clinical Trials:
Make an Impact
When answers are hard to find, families turn to Michigan Medicine. Despite world-class genetics programs and thousands of patient visits each year, many children and adults still face years of testing without a diagnosis. A confirmed diagnosis can change everything—ending the diagnostic odyssey, guiding care, opening access to therapies and trials, and connecting families to a community.
The Michigan Medicine Undiagnosed Disease Clinic (UDC) will be the first and only program of its kind in Michigan, serving both pediatric and adult patients across the state and Upper Midwest.
Your Impact
Support for the UDC will help make this clinic a true lifeline for families across Michigan and beyond by:
- Expanding access for rural and underserved patients
- Funding cutting-edge diagnostics like RNA-seq, long-read sequencing, and metabolomics
- Supporting nurse/genetic counselor coordinators and AI-enabled record review
- Launching functional genomics and N-of-1 therapy evaluations
- Building a statewide education and referral network
Together, we can end diagnostic odysseys, bring answers to families, and accelerate discoveries that benefit the entire rare disease community.
Featured News & Stories
A rare genetic condition with an even rarer treatment
