StorageSiteUCL Special Collections
Reference Number HBGU
TitleMedical Research Council (MRC) Human Biochemical Genetics Unit Archive
DescriptionThis 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.


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.
Extent3,333 folders, 20 boxes, 1 bundle
AdminHistoryThe Human Biochemical Genetics Unit was established by Professor Harry Harris at King's College London in 1962 to investigate the extent of genetic variation in healthy humans using family and population studies and simple screening techniques. It was one in a network of Medical Research Council genetic research units in the UK. In 1965, on Harris's appointment as Galton Professor at University College London, he moved the Unit to UCL with him. He remained as Honorary Director of the Unit to his departure for the USA in 1976. E.B. Robson then took over the Galton Chair (to 1994) and D.A. Hopkinson was made Director of the Unit (to 2000 when the Unit closed). Through the application of protein polymorphisms and blood groups in linkage analysis, with samples from thousands of families and tens of thousands of individuals, staff of the Unit identified over 30 new enzyme polymorphisms and made important contributions to linkage studies. Many studies were on rare polymorphisms not associated with any clinical syndrome and entirely harmless to the carrier but valuable for linkage studies.

There was a wide variety of research collaborations involved in the Unit's work.  The Unit liaised particularly closely with two other Medical Research Council Units, the MRC Blood Group Research Unit at the Lister Institute, then at UCL, and the MRC Clinical Effects of Radiation Unit (later the Clinical and Population Cytogenetics Unit). The Blood Group Research Unit succeeded the Serum Unit set up in 1935 under R.A. Fisher at the Galton Laboratory. In 1946 the Unit was reconstituted at the Lister Institute for Preventive Medicine as the Blood Group Research Unit, under the directorship of R.R. Race (R.A. Sanger from 1973, P. Tippett from 1983). The Unit acquired an international reputation in the field of haematology, extending its work in 1965 to the applications of the blood group systems to the problems of human genetics. The Clinical Effects of Radiation Unit was established at Edinburgh in 1956 under the directorship of Professor W.M. Court-Brown. The Unit was initially looking for evidence of genetic change in radiation-induced neoplasms in man but the development of techniques for chromosome analysis led to a change in the emphasis of the work, and the unit evolved into the MRC Clinical and Population Cytogenetics Unit in 1967. In 1969 Professor John Evans became Director of the Unit, with the remit of monitoring chromosomal variation on a large scale in different subpopulations. Other institutions with which there was a close association included P.E. Polanis Paediatric Research Unit at Guys Hospital, London.

Studies on particular conditions were undertaken in cooperation with many individuals and bodies. For example, with the British Thoracic and Tuberculosis Association into the genetics of lung and liver conditions associated with alpha-1-antitrypsin deficiency; with G.B. Winter of the Eastman Dental Hospital, London, on dentinogenesis imperfecta; with B.B. Anderson on Italian thalassaemia families; with Professor J.H. Edwards and J. Insley at the Institute of Child Health, Birmingham (and with Edwards later in Oxford) on schizophrenia; and with Professor P.S. Harper in Cardiff on myotonic dystrophy. Other studies well-represented in the archive include a population genetics study of the inhabitants of the island of Barra, and linkage studies on the Scianna blood group.
Overseas collaborations were also numerous.  They include work on icthyosis in Israeli families with A. Adam of the Tel Hasomer Government Hospital, Tel Aviv, Israel, in the mid 1960s (indicated in the catalogue entries as 'Adam ...'); studies of Finnish families with A. de la Chapelle at the Folkhlsan Institute of Genetics, Helsinki, Finland, and later, in the mid-1970s, with the Department of Medical Genetics, University of Helsinki; with Halla Hauksdttir at the University of Iceland Department of Pathology; with Professor E. Hackel of the University of Michigan Department of Natural Science; with J.A. Sachs on leprosy in South India; and the study of colour blindness in Sardinian Protan and Deutan families.
CustodialHistoryThe archive was housed in the Galton Laboratory at University College London where the Unit was based following the move of Professor Harry Harris to UCL in 1965. It remained in the Laboratory after the closure of the Unit in 2000, safeguarded under the supervision of Professor Sue Povey. It was passed for cataloguing to the Wellcome Genetics Archives Project at Cardiff University in February 2010 and returned to UCL in January 2011.
AccessConditionsThis archive is not currently available for consultation.
Many records in this archive contain a significant amount of sensitive personal data including medical information of named individuals and their families. In accordance with current legislation these sections are restricted or closed. It may be possible to view records that do not contain personal data, please enquire for further details.
FindingAidsA full catalogue is available but the collection is not yet available due to its content.. Please contact Special Collections for further information
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