Peter Lees Pearson

Peter Lees Pearson

Peter Pearson completed his BSc with honours at the University of Liverpool, UK in 1962, followed by a PhD in genetics at the University of Durham, UK in 1965 involving a cytogenetic investigation of a polyploid plant species. This was in the early days of human cytogenetics and following his PhD, he immediately turned his attention to medical research and studying human chromosomes at the University of Oxford under the auspices of the British Medical Research Council. With a lot of hard work and a small amount of luck Dr Pearson succeeded in making fundamental contributions to human chromosome analysis, and developed and published new analytical methods in high impact journals and was a signatory to the Paris nomenclature on human chromosome identification in 1971, 1973. In 1972 he moved to the Medical School at Leiden in the Netherlands and established a new clinical cytogenetics group and subsequently became heavily involved in human gene mapping using somatic cell hybrids and later in situ hybridisation. In this period he also helped establish the integrated genetic health care system in the Netherlands, which still remains a model today of how genetic services can be offered to the entire population without fear or favour. Also in this respect, in the late 1980s Dr Pearson was chairman of the Dutch National committee that designed and implemented the computer system for tracking genetic disease distribution and health care in the Netherlands. In the early 1980s he established the neuro-muscular research group at Leiden, which 30 years later still continues to thrive under the guidance of several, now very eminent scientists originally appointed by Dr. Pearson. For 6 years, from 1981 to 87, Dr Pearson was the vice-chairman of the Dutch Medical Research Foundation and the Dutch representative for medical research in the European Community and chairman of the European Union Genome Committee. In 1989, he relinquished his position as head of the Dept of Human Genetics in Leiden and transferred to Johns Hopkins, Baltimore to head up the Human Genome Database as part of the Human Genome Project, where he remained for 6 years before returning the Netherlands in 1995 to establish a new department of Human Genetics in the medical school at the University of Utrecht. A constant research theme during this period was his involvement in the genetics of human female reproduction and the search for genes determining age at menopause. He retired in 2004 and moved to Brazil with his wife and daughter where he is once again working in academia at the University of Sao Paulo. There, he is co-director of the National Institute for Stem Cell Research in Genetic Diseases at USP and actively involved in introducing English into all post-graduate activities, this later being essential to make Brazilian graduates competitive on the international stage. He is author or co-author of over 300 international publications, is a foreign member of the Dutch Academy of Sciences and has won several awards, including only 1 of 4 to have ever been honoured with life membership of the Dutch Human Genetics Society. Also, he is the only person in the Netherlands to have ever been accredited to perform both Cytogenetic and Molecular Genetic Diagnosis. Arguably his greatest notoriety involves not his science, but his boat building skills.


Research profile
Dr Pearson’s current research profile differs significantly from that in earlier periods in that the activities are much more reflective of personal interest and less dependent on the mental and physical contributions of graduate students and other support staff. He now devotes more time to developing and testing theories on topics including: the contribution of grandmothers to grandchild survival and consequences for selection of female fertility profiles; the practical advantages of association analyses being performed within families rather than populations; the contribution of the FMR1 premutation to ovarian ageing in families and populations; correcting for generation differences within families for disease penetrance in genetic risk and linkage distance estimations. Most of these topics involve computer modelling to derive optimal solutions. Since his involvement in helping acquire funding and setting up the National Institute for Stem Cell Research in Genetic Disease, Dr Pearson has increasingly become more intrigued in the problems of ageing and longevity of stem cells and of how this profile may impact the long term longevity and health of human beings, and to what extent the stability of the stem cell genome, including CNVs, can influence stem cell aging and differentiation. A research student is working with him on this subject.


Diagnostic and counselling activities



10 favorite articles selected from ~ 450 peer reviewed articles, book chapters and edited books. 15180 citations. H-index is 64 in Google Scholar. Citation scores for favorite articles in brackets.

1. Reeders, S.T., Breuning, M.H., Davies, K.E., Nicholls, R.D., Jarman, A.P., Higgs, D.R., Pearson, P.L. and Weatherall, D.J. (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature, 317, 542-544. (711)

2. te Velde, E.R. and Pearson, P.L. (2002) The variability of female reproductive ageing. Human reproduction update, 8, 141-154. (538)

3. Den Dunnen, J., Grootscholten, P., Bakker, E., Blonden, L., Ginjaar, H., Wapenaar, M., Van Paassen, H., Van Broeckhoven, C., Pearson, P. and Van Ommen, G. (1989) Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. American journal of human genetics, 45, 835. (494)

4. Pearson, P.L., Bobrow, M. and Vosa, C.G. (1970) Technique for identifying Y chromosomes in human interphase nuclei Nature, 226,78-80. (483)

5. Bobrow, M., Madan, K. and Pearson, P. (1972) Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9. Nature, 238, 122-124. (243)

6. Bakker, S., Meulen, E.v.d., Buitelaar, J., Sandkuijl, L., Pauls, D., Monsuur, A., Slot, R.v.t., Minderaa, R., Gunning, W. and Pearson, P. (2003) A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q. The American Journal of Human Genetics, 72, 1251-1260. (242)

7. Bakker, E., Goor, N., Wrogemann, K., Kunkel, L., Fenton, W., Majoor-Krakauer, D., Jahoda, M., Ommen, G.v., Hofker, M. and Pearson, P.L. (1985) Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. The Lancet, 325, 655-658. (157)

8. Den Dunnen, J., Bakker, E., Breteler, E.K., Pearson, P. and Van Ommen, G. (1987) Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature, 329, 640-642. (177)

9. Bakker, E., Van Broeckhoven, C., Bonten, E., Van de Vooren, M., Veenema, H., Van Hul, W., Van Ommen, G., Vandenberghe, A. and Pearson, P. (1987) Germline mosaicism and Duchenne muscular dystrophy mutations. Nature, 329, 554-556. (157)

10. Pearson, P. and Bobrow, M. (1970) Definitive evidence for the short arm of the Y chromosome associating with the X chromosome during meiosis in the human male. Nature, 226, 959-961. (140)