How to Participate

Please contact us before sending samples.

The Registry now welcomes inquiries from clinicians who believe they have identified patients with either classical features of the Werner Syndrome or a case with atypical features. We particularly welcome cases for which members of nuclear pedigrees are available for genetic analysis. Please contact Junko Oshima, Ph.D., F.A.C.M.G.

We invite physicians with patients exhibiting symptoms of either typical or atypical cases of Werner syndrome to contact the International Registry of Werner Syndrome for a molecular diagnosis. Those with eligible cases will be asked to send blood samples and tissue samples to the Registry for enrollment in our ongoing research on Werner syndrome and other aging conditions. We do not accept submissions from commercial laboratories at this time. The goals of the Registry are to:

1. Provide a molecular diagnosis of the Werner Syndrome for referring physicians around the world
    
2. Discover previously undescribed mutations at the WRN locus
    
3. Discover forms of mutations that are characteristic of particular ethnic groups or geographical clusters so as to expedite the molecular diagnosis by our laboratory and by other laboratories around the world
    
4. Discover the genetic basis of novel forms of segmental progeroid syndromes, including different varieties of "Atypical Werner Syndrome"
    
5. Maintain and expand banks of DNA and cryopreserved cells and cell lines from patients and members of pedigrees as a means of enhancing the robustness of the diagnosis of Werner syndrome and other disorders, providing information for genetic counseling, and providing material for research by this laboratory and laboratories around the world.

In order to achieve these goals, it is essential that the referring physicians provide complete clinical and laboratory information via our Registry forms, submit peripheral blood and, when feasible, small skin biopsies. When no WRN mutations are identified, we request biological samples from family members of the nuclear pedigree (parents and siblings, when available) for further genetic studies to identify new loci responsible for "Atypical Werner Syndrome".

We are a CLIA certified laboratory and issue a formal written report on the Werner gene sequence and protein analysis free of charge. Ninety percent of individuals with a clinical diagnosis of Werner Syndrome have detectable mutations by this method. The remaining 10% of cases do not have a discernable change at this locus. In a few of these atypical cases, mutations in the LMNA gene have been discovered.

We establish permanent cell lines for DNA extraction and genetic and physiological studies to better understand the Werner syndrome and related disorders. Our project includes a repository that shares unidentified samples with other researchers working in this field.

The instructions for sending blood and tissue as well as consent forms are available below. Please contact us before sending samples. We recommend that samples are sent early in the week so they arrive before the weekend. We will pay for the cost of shipping and can provide blood drawing tubes and tissue media upon request.

Medical Information Forms:

• Registry Intake Form
• Blood Sample Collection Instructions
• Tissue Sample Collection Instructions
• Sample Letter to Referring Physician
• The Belmont Report
• Material Transfer Agreement (for researchers)

Consent Forms: