Medical Research Council (MRC) Human Biochemical Genetics Unit Archive This is a comprehensive record of the work of this Unit. The bulk of the material is the family files relating to genetic conditions, compiled from 1963 to 2000, with full indexes. The archive is arranged as follows: Section A, General, presents material principally of P.J.L. Cook and E.B. Robson that was found in the Galton Laboratory. It is not a systematic survival but illustrates the way in which the Unit functioned and an insight into some other activities of its staff. There is documentation of research topics, including the study of possible linkage between the transferrin locus and the E-1 (serum cholinesterase) locus on chromosome 1, of alpha-1-antitrypsin and the Pi system, of translocation between chromosomes 11 and 16, and of antithrombin III deficiency. Correspondence includes exchanges with colleagues in the MRC Unit in Edinburgh and other research centres in the UK which were referring cases to, or receiving samples from the Unit, or cooperating on particular studies. There is a series of drafts, representing work in progress (see Section C for the voluminous published output of the Unit). The Societies and organisations subsection includes documentation of the Clinical Genetics Society, 1976-1981, and the Human Gene Mapping Committee mapping Chromosome 1, 1977-1979. Both represent P.J.L. Cooks involvement in their work. Additional laboratory material is principally Laboratory typescript data sheets for various investigations listing numbered samples from patients. Section B, Case files, forms the great bulk of this archive. The material consists of the files and indexes from over 5,000 family cases studied by the Human Biochemical Genetics Unit from its establishment at King's College, through its move to University College, to its closure in 2000. The cases were ordered by family, each family being assigned an MRC number. The files were found subdivided between a main sequence and a sequence of Small families (though the run of MRC numbers is a single continuous sequence). There are full indexes offering access to the cases by MRC number, family and chromosomal abnormality, and additional material relating to the K series of cases, undertaken as part of an extensive and long-running survey supported by the British Thoracic and Tuberculosis Association (BTTA, otherwise the British Thoracic Association, BTA) into the genetics of lung and liver conditions associated with alpha-1-antitrypsin deficiency.   The material in the case files is family pedigrees, often very extensive; correspondence with colleagues, family doctors and members of families under study; results of testing of samples; other data, some in the form of computer-generated data; photographs of chromosomes, etc.  It may also include drafts of articles referring to particular families or groups of families.   As well as tracing the growing understanding of particular conditions and linkages, and the advances in techniques (for example, the introduction and then the increasing power of computer technology) over the decades, the material allows for the study of developments in treatment of disease, changes in attitudes to genetic conditions and to some of the ethical implications of testing and diagnosis. There are gaps in the record and some files have been retained by staff of the Galton Laboratory as they are still current.  Much of the information contained in the case files is necessarily confidential and there are significant restrictions on access. Section C, Publications, is the published output of the Unit's staff between 1962 and 2000. In many instances the work presented in the publications is the direct result of a case study or group of studies, to which it refers by MRC number, see, for example, P.J.L. Cook, E.B. Robson, K.E. Buckton et al, 'Segregation of ABO, AK-1 and ACON-s in families with abnormalities of chromosome 9', Ann. Hum. Genet., vol. 41, 1978. In other instances a publication may report on the results of a wider ongoing survey, such as P.J.L. Cook, J.E. Noades, C.G. Lomas et al, 'Exclusion mapping illustrated by the MNSs blood group', Ann. Hum. Genet., vol. 44, 1980, which used data gathered from the 3,600 families that had been tested for MNSs as part of the Unit's general linkage programme since 1964. At the time of the compilation of this catalogue, there was no complete numbered list of publications available but at C.1 is a master list of publications 1962-1984. There is also an index of correspondents. ACKNOWLEDGEMENTS The work in compiling this catalogue was made possible through a grant from the Wellcome Trust Research Resources in Medical History programme. Catalogue compiled by Timothy E. Powell and Simon Coleman, 2010, with thanks to Sue Povey and Peter Harper. 1961-2000