Biological Significance of the Bloom’s Syndrome Protein

Brief Title

Biological Significance of the Bloom's Syndrome Protein

Official Title

Biological Significance of the Bloom's Syndrome Protein

Brief Summary

      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.
    

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.
    


Study Type

Observational




Condition

Bloom Syndrome



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information







Eligibility Criteria

        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
      

Gender

All

Ages

2 Years - 55 Years

Accepts Healthy Volunteers

No

Contacts

, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT00021437

Organization ID

NCRR-M01RR06020-0060



Study Sponsor

National Center for Research Resources (NCRR)


Study Sponsor

, , 


Verification Date

December 2003