1st September 2009

Senior Sanger Institute Investigator awarded Carter medal

Professor Leena Peltonen is recognised for outstanding contribution to clinical genetics

Professor Leena Peltonen is recognised for outstanding contribution to clinical genetics.

Professor Leena Peltonen is recognised for outstanding contribution to clinical genetics.

Professor Leena Peltonen, Head of Human Genetics at the Wellcome Trust Sanger Institute and a leading molecular geneticist, has been awarded the prestigious Carter medal by the Clinical Genetics Society. The honour recognises her outstanding contribution to clinical genetics.

In the course of her prolific career, Leena has published some 520 original research articles. Her work has centred around the use genetically isolated populations to identify genes that predispose carriers to a diversity of common human diseases. However, looking beyond genetic association alone, Leena's teams have explored molecular mechanisms leading to cellular and tissue consequences in patients and her research has led to advances in clinical diagnostics.

Each year, the Carter medal is awarded to commemorate Cedric Carter, clinical geneticist and founder of the Clinical Genetics Society. The Society aims to "bring together doctors and other professionals involved in the care of individuals and families with genetic disorders." Previous recipients of the medal include Sydney Brenner, Alec Jeffreys, and Kay Davies.

"I feel deeply honoured to receive this award, the list of earlier recipients makes you really humble," says Leena. "I am passionate about realising the clinical relevance of genetic science and am thrilled to be honoured by an institution that nurtures this deeply important relationship. I am convinced that the work we are doing now will underpin the development of therapeutics in the future. We have already seen that genetic discoveries have been fundamental in the development of diagnostic tests and carrier screening."

Initially, Leena's research focussed on monogenic diseases - those caused by mutations in single genes. She has successfully mapped over 20 diseases including early dementia and autoimmune disease and numerous early lethal syndromes including Meckel syndrome. Since, Leena has gone on to pioneer the use of population isolates to investigate polygenic diseases, caused by the interaction of several genes. This has led to published associations for several complex human diseases including multiple sclerosis, Schizophrenia, bipolar disease, obesity and heart disease.

" I am passionate about realising the clinical relevance of genetic science and am thrilled to be honoured by an institution that nurtures this deeply important relationship. "

Professor Leena Peltonen

Geographically isolated groups often have restricted diversity: in part, because of their relatively homogeneous genetic backgrounds and, in part, because of shared environmental exposure. Using isolated cohorts accelerates the process of finding those specific genes that are the cause of human diseases, whether independently or in concert with others. In 2007 Leena brought her expertise in the use of isolated populations in the hunt for genes contributing to human disease to the Sanger Institute, where she took up a post as Head of Human Genetics.

"Leena's contribution to understanding the genetics of human disease has been a lifelong commitment and is simply outstanding," says Professor Allan Bradley, Director of the Wellcome Trust Sanger Institute. "Leena is an inspirational figure - she immerses herself in the genetics community, working to build and maintain networks of collaborations, particularly in Europe. Her contribution to the field has been enormous."

At the Sanger Institute, Leena's group aims to translate the vast amount of data, which can now be acquired though genome-wide association studies across populations, into genetic information that will have direct clinical relevance in the future. Leena's group coordinates the European Network for the Genetic and Genomic Epidemiology project, which will characterise genetic and environmental predisposition to cardiovascular and metabolic disease. Leena also plays a leading role in the Wellcome Trust Case Control Consortium, an assembly of 50 research groups, which has, to date, identified approaching 100 variants affecting susceptibility for some of the most common genetic diseases of humans.

Leena gained her MD and PhD from the University of Oolu in Finland. After completing her postdoctoral fellowship in the USA, she returned to Finland where she established genetic research at the Finnish National Public Health Institute and held several posts.

Leena's influence as a global figure in human genetics is far-reaching and she has held several prominent positions. She was the founding Chair of the Department of Human Genetics at UCLA in 1998-2002 and president of HUGO in 2005-2007. She has also served as a member of the UNESCO Bioethics Committee, and since 2006 she has been a Foreign Associate Member of the National Academies USA, Institute of Medicine (IOM).

Alongside her position at the Sanger Institute, Leena maintains a part-time affiliation as Research Director at the Institute for Molecular Medicine, Finland (FIMM) and has a visiting professorship at the Broad Institute.

As winner of the Carter medal, Leena has been invited to present the Carter Lecture at the 2009 British Society for Human Genetics Annual conference, which takes place this week. Founded in 1996, the British Society for Human Genetics (BSHG) provides a forum for UK professionals involved in Genetics. The BSHG annual conference covers recent advances in human genetics research and its applications in the clinic, and is attended by hundreds of clinical geneticists, scientists and genetic counsellors.

Notes to Editors


The Clinical Genetics Society (CGS) was set up in 1970 to bring together doctors and other professionals involved in the care of individuals and families with genetic disorders, with the following aims:

  1. to advance and promote the science and practice of Clinical Genetics
  2. to bring together workers who have a common interest in Clinical Genetics
  3. to understand, prevent, cure and alleviate conditions with a genetic aetiology
  4. to publish and disseminate reports, statements, and research findings

Since its creation, the CGS membership has increased steadily to over 400 members from around the world but principally in the UK. The aims have broadened, and now include:

  1. promoting and facilitating education for the genetics community, other health care professionals, those outwith the profession, and the wider public
  2. encouraging high standards of training for professionals within Clinical Genetics
  3. facilitating research into basic human genetics and genetic disorders
  4. maintaining excellent links with patient groups
  5. continuing constructive dialogue with government and other politicians on genetics-related issues

Professor Cedric Carter

Professor Cedric Carter was director of the Medical Research Council's Clinical Genetics Unit at the Institute of Child Health, London until his retirement in 1982. He died in 1984 at the age of 67. It was Cedric Carter who started the Clinical Genetics Society in 1970 and as its first president guided it in the early years. On his retirement the Society honoured his contribution to clinical genetics by establishing The Carter Lecture, the first of which was given in 1984.




The Wellcome Trust Sanger Institute

The Wellcome Trust Sanger Institute, which receives the majority of its funding from the Wellcome Trust, was founded in 1992. The Institute is responsible for the completion of the sequence of approximately one-third of the human genome as well as genomes of model organisms and more than 90 pathogen genomes. In October 2006, new funding was awarded by the Wellcome Trust to exploit the wealth of genome data now available to answer important questions about health and disease.

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The Wellcome Trust is a global charitable foundation dedicated to achieving extraordinary improvements in human and animal health. We support the brightest minds in biomedical research and the medical humanities. Our breadth of support includes public engagement, education and the application of research to improve health. We are independent of both political and commercial interests.

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