Medical Genetics Research

The Bloom Syndrome Registry at Weill Cornell Medicine is a cooperative clinical and investigational effort involving medical professionals with experience caring for Bloom syndrome patients and the community of those affected by Bloom syndrome (including families). Our goal is to characterize Bloom syndrome natural history, maintain a database of clinical information, and obtain samples from affected persons to study the cellular basis of Bloom Syndrome traits.

We compile the collective information about this rare condition, because any single physician or even large medical center is likely to encounter no more than one person with Bloom syndrome. As a clinical repository, we strive to serve those with Bloom syndrome and their families, provide knowledge about the condition, and use this knowledge  to improve outcomes. 

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Participate in the Bloom Syndrome Registry

Please contact us to provide the registry with your information.  

Office: (646) 962-2205 

Parents, guardians and healthcare providers may submit the following:

  • Clinical case history
  • The laboratory testing that confirms the diagnosis
  • Contact information to follow the clinical progress of the affected person, including growth, general health, and health problems.

We encourage interested parties to contact us with any questions or concerns regarding potential involvement or addition to the registry.

Informed consent must be provided by persons who participate in the registry. Bloom Syndrome Registry consent forms are approved by the Institutional Review Board of Weill Cornell Medical College.

Bloom Syndrome Registry Publications

  • German, J.: Bloom’s Syndrome. I. Genetical and Clinical Observations in the First Twenty-Seven Patients. Amer. J. Hum. Genet. 21:196-227, 1969.
  • Cunniff, C., Bassetti, J. A., Ellis, N. A.: Bloom Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition. Mol Syndromol 2017;8:4-23.
  • Chaganti, R. S. K., Schonberg, S., German, J.: A Manyfold Increase in Sister Chromatid Exchanges in Bloom’s Syndrome Lymphocytes. Proc. Natl. Acad. Sci.USA 71:4508-4512, 1974.
  • Passarge, E.: Bloom’s Syndrome: The German Experience. Ann. Génét. 34:179-197, 1991.
  • German, J.: Bloom Syndrome: A Mendelian Prototype of Somatic Mutational Disease. Medicine 72:393-406, 1993.
  • Ellis, N.A., Groden, J., Ye, T.Z., Straughen, J., Lennon, D.J., Ciocci, S., Proytcheva, M., German, J.: The Bloom’s Syndrome Gene Product is Homologous to RecQ Helicases. Cell 83:655-666, 1995.
  • German, J., Ellis, N. A., Proytcheva, M.: Bloom’s Syndrome. XIX. Cytogenetic and Population Evidence for Genetic Heterogeneity. Clin. Genet. 49:223-231, 1996.
  • German, J.: Bloom’s Syndrome. XX. The First 100 Cancers. Cancer Genet. Cytogenet. 93:101-107, 1997.
  • Sanz, M.M., Proytcheva, M., Ellis, N. A., Holloman, W. K., German, J.: BLM, the Bloom’s Syndrome Protein Varies During the Cell Cycle in its Amount, Distribution, and Co-Localization with Other Nuclear Proteins. Cytogenet. Cell Genet. 91:217-223, 2000.
  • German, J., Ellis, N. A.: Bloom Syndrome. In The Metabolic and Molecular Bases of Inherited Disease, 8th Edition (eds. Schriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D.), McGraw-Hill, Inc., N.Y., pp. 733-752, 2001.
  • German, J., Ellis, N. A.: Bloom Syndrome. In The Genetic Basis of Human Cancer, 2nd Edition (eds. Vogelstein, B. and Kinzler, K. W.), McGraw-Hill, N. Y., pp. 267-288, 2002.
  • German, J., Sanz, M., Ciocci, S., Ye, T. Z., Ellis, N. A.: Syndrome-Causing Mutations of BLM in Persons in the Bloom’s Syndrome Registry. Hum. Mutation Online, 1-11, 2007; Hum. Mutation 28:743-753, 2007.
  • Sanz M.M., German J., Cunniff C. Bloom's Syndrome. 2006 Mar 22 [Updated 2016]. In: Pagon R.A., Adam M.P., Ardinger H.H., et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 

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