Rare Disease

One in ten Americans has a rare disease, defined as a disease that afflicts fewer than 200,000 people per year in the United States. Because there are close to 7,000 rare diseases, these “orphan” ailments have a significant collective impact. Research aimed at finding the causes and ultimately treatments for these disorders could benefit millions of people. This is especially so given that research on rare diseases often provides insight into more common diseases.

The National Rare Disease Biospecimen Resource (NRDBR)

NDRI is at the forefront of providing researchers with organs, tissues, blood, and DNA or cell lines donated from people with rare diseases. Since 2002, NRDBR has procured over 2,000 tissues representing 101 rare diseases. NDRI recently expanded its rare disease program through the creation of a unique alliance with Voluntary Health Organizations representing several disease categories.

NRDBR offers the following rare disease resources and services for researchers:

Customized Tissue Procurement: NDRI has the most extensive network of organ procurement organizations, eye banks, tissue banks, and hospitals to find rare disease tissues for your research. Specimens from surgical, transplant or research-only donations  from donors with rare diseases can be sent to your lab within hours of acquiring them.

Rare Disease Cell Line, DNA, and Plasma Bank: NDRI's bank of tissues includes over 1,000 rare disease specimens.

Rare Disease Paraffin Collection: NDRI's collection contains 800 paraffin blocks encompassing 30 rare diseases.

LAM Tissue and Blood Repository: Effective March 1, 2007, the LAM (Lymphangioleiomyomatosis) Tissue Repository that was formerly housed at the National Heart, Lung and Blood Institutes of Health is now located at NDRI.

To learn more about NDRI’s rare disease resources, contact raredisease@ndriresource.org.

Alliance with Voluntary Health Organizations

NDRI Rare Disease Research Network

In 2006, NDRI launched the National Rare Disease Partnership (NRDP) of Voluntary Health Organizations (VHOs) that advocate for research into specific rare diseases. Such patient advocacy groups provide important links between patients with rare diseases and researchers of those disorders. Many individuals with rare diseases are more than willing to donate following surgery or after death as a way of furthering research on the rare diseases they have. We are currently creating an online registry of such donors.

Current NRDP members include:

  • ARPKD/CHF Alliance
  • Alpha-1 Foundation
  • CFC International
  • CHARGE Syndrome Foundation
  • Children's Tumor Foundation
  • Cure CMD
  • Cystic Fibrosis Foundation
  • Ehlers Danlos National Foundation (EDNF)
  • Facioscapulohumeral Muscular Dystrophy Society
  • Fanconi Anemia Research Fund, Inc.
  • Foundation for Sarcoidosis Research
  • Foundation for Thymic Cancer Research
  • Granulosa Cell Tumor Foundation
  • HHT Foundation International
  • Hereditary Neuropathy Foundation
  • The Hermansky-Pudlak Syndrome Network
  • Intracranial Hypertension Research Foundation (IHRF)
  • LAM Foundation
  • LAM Treatment Alliance
  • Lymphangiomatosis & Gorham's Disease Alliance
  • National Association Pseudoxanthroma, Inc. (NAPE)
  • Opsoclonus-Myoclonus Support Network
  • Smith-Lemli-Opitz/RSH Foundation
  • The Sturge-Weber Foundation
  • Tarlov Cyst Disease Foundation
  • VHL Family Alliance
  • Wilson Disease Association International

Additional funding support is provided by Cystic Fibrosis Foundation.

Voluntary Health Organizations interested in learning more about the NDRI National Rare Disease Biospecimen Alliance should contact John Lonsdale, Ph.D. at raredisease@ndriresource.org.


View our recent Private Donor Program webinar presentation:

Accelerating Biomedical Research via Private Donation



Examples of Rare Disease Biospecimens Available

  • Amyloidosis
  • ALS
  • Cerebellar Degeneration
  • Charcot-Marie-Tooth
  • Cholecystitis
  • Chromosome 8 Deletion
  • CIDP
  • Cystic Fibrosis
  • Diabetes Insipidus
  • Ehlers-Danlos Syndrome
  • Friedreich’s Ataxia
  • Inclusion Body Myositis
  • LAM
  • Leigh Syndrome
  • Lewy Body Dementia
  • Marfan Syndrome
  • Menkes Disease
  • Myelodysplastic Syndrome
  • Myotonic Dystrophy
  • Osteomalacia
  • Pick’s Disease
  • Polycythemia Vera
  • Reflex Sympathy Dystrophy
  • Restless Leg Syndrome
  • Sandhoff Disease
  • Sarcoidosis
  • Scleroderma, Crest Syndrome
  • Scleroderma, Diffuse
  • Sickle Cell Anemia
  • Spinal Muscular Atrophy
  • Trisomy 18
  • Von Hippel-Lindau Disease
  • Wegeners Granuloma
  • Wolff-Parkinson-White Syndrome
NDRI works with voluntary health organizations to network for specific disease tissues. To collaborate with NDRI, please call 1-800-222-NDRI.

NDRI provides a unique service to investigators all over the world and has become indispensable to many research projects. Its spectacular success exceeds even our most optimistic expectations and is a tribute to the foresight, drive and vision of Lee Ducat its founder.

Arthur Rubenstein, M.B.B.Ch.

For more information about NDRI's Private Donor Program

An NDRI coordinator can be contacted 24/7 at 800-222-NDRI (6374) you can also e-mail us at info@ndriresource.org

View additional contact information »