Help and resources are available for people who are currently searching for a diagnosis.
Some simply have not been referred to the correct specialist, while others have a disease that is either unknown to the medical community or does not yet have a known test.
Finding a clinic or diagnostic program that specializes in undiagnosed patients is an important way to connect with specialists who have expertise in diagnosing rare disorders.
The Undiagnosed Diseases Network (UDN)
The Undiagnosed Diseases Network (UDN) is the leading clinical research study in the U.S. for undiagnosed patients . The study, funded by the National Institutes of Health (NIH), bridges the gap between clinical care and research by assembling experts from around the country to collaborate in seeking diagnoses for the most complex undiagnosed diseases.
The UDN comprises 12 clinical sites across the United States including a coordinating center, a sequencing core, a metabolomics core, two model organism screening centers, and a central biorepository.
The Undiagnosed Diseases Program (UDP) at the University of Alabama at Birmingham
Undiagnosed patients in Alabama also have access to the Undiagnosed Diseases Program (UDP) at the University of Alabama at Birmingham (UAB). This leading-edge program addresses the needs of patients with severe chronic medical conditions for whom a diagnosis has not been made despite extensive efforts by the referring physician.
The UDP strives to meet the needs of patients of all ages. The program serves those with rare diseases, those with conditions not previously known to exist, and those with atypical presentations of common diseases.
The UDP is led by a multidisciplinary team of experienced UAB clinicians that includes:
- Bruce R. Korf, MD, PhD
- Martin Rodriguez, MD
- Anna Hurst, MD
The team also includes certified genetic counselor Kirstin Smith, MS, CGC, and certified registered nurse practitioners Tammi Skelton, MSN, CRNP, NP-C, and Kaitlin Callaway, MSN, CRNP, NP-C.
The program benefits from the expertise of clinicians and investigators from UAB Medicine, Children’s of Alabama, and HudsonAlpha Institute for Biotechnology. These experienced professionals work together in using medical expertise and testing, as well as genetic and genomic technologies, to uncover a diagnosis and determine an effective treatment. For an evaluation, patients need a physician referral and must also meet essential criteria.
Smith Family Clinic for Genomic Medicine
The Smith Family Clinic for Genomic Medicine is the first clinic in the world designed to provide diagnoses to patients with undiagnosed diseases by using whole genome sequencing data when other genetic technologies are unable to reach a diagnosis.
Led by Medical Director David Bick, MD, the Clinic is unique in sequencing the whole genome, rather than part of the genome, in the diagnostic process. The Clinic is located on the campus of the HudsonAlpha Institute for Biotechnology in Huntsville.
The Undiagnosed Disease Registry
The National Organization for Rare Disorders (NORD) is the leading patient advocacy organization dedicated to improving the lives of individuals and families living with rare diseases.
NORD has launched the Undiagnosed Rare Disease Registry to support research on rare diseases and how they progress over time. The online registry securely collects and stores data for medical research. The goal of the study is to limit the diagnostic odyssey for people with undiagnosed rare diseases by building a rare disease community. Other goals include collecting relevant demographic and symptom-related data and informing researchers, clinicians, and regulatory agencies.
