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EUROPEAN MUTANT CELL REPOSITORY FOR GENETIC STUDIES IN HUMANS

Objective

THE SCOPE OF THE PROJECT ENCOMPASSES THE INTEREST OF FAMILIES AFFECTED WITH DISEASES INVOLVING SINGLE MENDELIAN DISORDERS (LIKE DUCHENNE'S MUSCULAR DYATROPHY, NEUROFIBROMATOSIS, POLYPOSIS COLI AND THE COLLAGEN-DISORDERS, E.G. MARFAN'S SYNDROME AND OSTEOGENESIS (IMPERFECTA) IN ALL (EUROPEAN) COUNTRIES. IT WILL BECOME AN ESSENTIAL SOURCE OF INFORMATION FOR PRESENT AND FUTURE RESEARCH, TO BE CONTINUED DURING A PERIOD OF AT LEAST TWO GENERATIONS.
REASONS FOR THIS ARE :

- MANY GENETIC DISORDERS DO NOT GIVE SYMPTOMS BEFORE ADULT AGE;
- IN EVERY SINGLE FAMILY, AS MANY INFORMATIVE SUBJECTS (BOTH AFFECTED AND UNAFFECTED) MUST BE AVAILABLE FOR THE STUDY, FOR INSTANCE IN THE TESTING OF A (PRESYMPTOMATIC) DIAGNOSTIC TEST;
- NEW TECHNOLOGIES (LIKE DNA-PROBES) ARE BEING DEVELOPED AT A RAPID RATE, AND THEIR TESTABILITY GREATLY DEPENDS UPON INFORMATIVE MATERIALS FROM WELL-STUDIED FAMILIES;
- FOR THE TESTING OF ANY DNA, ENZYMATIC OR BIOCHEMICAL MARKER, CELL MATERIAL FROM MULTIPLE GENERATIONS FROM EVERY SINGLE FAMILY (INCLUDING BOTH AFFECTED PROBAND(S) AND UNAFFECTED RELATIVES) IS ESSENTIAL TO ESTABLISH ANY RELEVANT SEGREGATION PATTERN, USEFUL IN CONSTRUCTING AN INFORMATIVE AND RELIABLE DIAGNOSTIC TEST. THE HETEROGENEITY WITHIN MANY GENETIC DISORDERS MAKES IT ESSENTIAL, THAT THESE DATA ARE OBTAINED FROM EVERY SINGLE INDIVIDUAL FAMILY TO BE STUDIED PROSPECTIVELY IN THE FUTURE.

THE ROTTERDAM (NEDERLANDS) GROUP, WITH EXPERIENCE FOR 15 YEARS IN STORAGE AND DISTRIBUTION OF CULTURED HUMAN FIBROBLASTS AND A COLLECTION OF + 3500 CELL STRAINS, WILL EXTEND THESE ACTIVITIES TO LARGER GROUPS OF PATIENTS WITH SINGLE MENDELIAN DISORDERS (LIKE DUCHENNE'S MUSCULAR DYSTROPHY, NEUROFIBROMATOSIS, POLYPOSIS COLI, THE COLLAGEN-DISORDERS, LIKE MARFAN'S SYNDROME AND OSTEOGENESIS IMPERFECTA) AND TOGETHER WITH CELLS FROM AFFECTED AND NON-AFFECTED RELATIVES AND HETEROZYGOTES, COLLECT THESE AS INFORMATIVE SOURCES FOR ANY BIOCHEMICAL AND DNA-STUDIES, TOGETHER WITH RELEVANT COMPUTERIZED FAMILY DATA.

THE COOPERATION IN THIS AREA IN EUROPE AND IN THE NETHERLANDS PROVIDES A FEASIBLE NUCLEUS FOR EXTENDING THIS TYPE OF COLLABORATION AND APPROACH TO OTHER EUROPEAN COUNTRIES AND - CELL BANKS.

Coordinator

ERASMUS UNIVERSITY
Address
Dept. Cell Biology & Genetics P.o. Box 1738
3000 DR Rotterdam
Netherlands

Participants (1)

Centre for Applied Microbiology and Research (CAMR)
United Kingdom
Address
Porton Down
SP4 0JG Salisbury