Try our beta test site
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...

Biological Significance of the Bloom's Syndrome Protein

This study has been completed.
Information provided by:
National Center for Research Resources (NCRR) Identifier:
First received: July 11, 2001
Last updated: June 23, 2005
Last verified: December 2003
Since 1960, persons with the very rare disorder Bloom's syndrome (BS) have been followed clinically, documenting clinical matters as obtained from their doctors. This has been a worldwide search for cases, though a few in the New York City area are seen (personally, by us) perhaps once every 2-3 years. BS is a rare genetically-determined disorder described in NYC in 1954. The clinical courses of the 169 persons diagnosed BS by 1991 are followed in a program referred to as the Bloom's Syndrome Registry. BS is the prototype of the "chromosome-breakage syndromes." BS cells mutate at a greater rate than any other, and the consequence is the greatest known predisposition to cancers of the types that affect the general human population. We are defining the clinical syndrome and at the same time are studying cells from affected families in the experimental laboratory. BS is a model for learning about cancer. Our contact with families lets us know of cancers arising, but blood, and sometimes tiny biopsies of skin, is taken if available so that (a) the chromosomes can be studied and (b) the gene mutations can be defined in molecular terms.

Bloom Syndrome

Study Type: Observational
Study Design: Observational Model: Defined Population
Observational Model: Natural History
Time Perspective: Longitudinal
Time Perspective: Retrospective/Prospective
Official Title: Biological Significance of the Bloom's Syndrome Protein

Resource links provided by NLM:

Further study details as provided by National Center for Research Resources (NCRR):

Detailed Description:

Although an occasional person with BS will be admitted to the hospital for special study (endocrine evaluation mainly)--two in the last 25 years--the Registry does not develop a doctor/patient relationship with affected persons. They have their own doctors. We gather information about the affected persons and publish reports. We also publish reports of experiments carried out in the research laboratory using BS cells. Because we are a central repository for information on BS, families or their physicians find contact with us beneficial, and we provide them with information requested. Sometimes pregnancies at risk occur, and we have on occasion made cytogenic (chromosome) analysis of cultured cells of amniotic fluid (the cultures being initiated elsewhere and sent to us for cytogenetic study).

Although the accessioning of new cases to the Registry was closed in 1991, 4-5 new patients are referred to us each year, and their clinical courses also are being followed. To date, the 169 officially registered and 36 additional cases are under our surveillance.


Ages Eligible for Study:   2 Years to 55 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  1. families include those ascertained by physician referral and those families already accessioned to The Bloom's Syndrome Registry
  2. the family has at least one affected member with BS
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00021437

United States, New York
New York Hospital-Cornell Medical Center
New York, New York, United States, 10021
Sponsors and Collaborators
National Center for Research Resources (NCRR)
  More Information Identifier: NCT00021437     History of Changes
Other Study ID Numbers: NCRR-M01RR06020-0060
Study First Received: July 11, 2001
Last Updated: June 23, 2005

Keywords provided by National Center for Research Resources (NCRR):
Bloom syndrome protein

Additional relevant MeSH terms:
Bloom Syndrome
Pathologic Processes
Abnormalities, Multiple
Congenital Abnormalities
DNA Repair-Deficiency Disorders
Metabolic Diseases processed this record on April 24, 2017