Pumpa Newsletter
PUMPA NEWSLETTER
NOVEMBER 2010
OBITUARY
Dr H. Anne Simmonds, co-founder of PUMPA and pioneer in the field of inborn errors of purine and pyrimidine metabolism. December 6, 1927 - April 2, 2010
Dr Anne Simmonds was the founder and director of the Purine Research Laboratory at Guy’s Hospital and was internationally known through more than 400 peer-reviewed articles and chapters in text books concerning the metabolism of the purine and pyrimidine nucleotides (usually known as components of nucleic acids) by enzymes in all tissues of the body, particularly the kidney and the immune system.
Anne played a pivotal role in setting up the Purine Metabolic Patients’ Association (PUMPA), a charity dedicated to providing information and support for patients with genetic disorders of purine and pyrimidine metabolism, and for encouraging research into these disorders. She was a founding member of the European Society for the Study of Purine and Pyrimidine Metabolism in Man (ESSPPM) with the objective of providing low-cost meetings to attract and educate young investigators in this important field. In 1998 she obtained a grant from the EU to establish a network of laboratories to diagnose and study purine and pyrimidine disorders, and as a result of her work and encouragement, most countries in the EU now have at least one such laboratory.
Anne was born and raised on a remote farm in the North Island of New Zealand, and educated by correspondence school. She had to go to another town to complete her high school education. At Auckland University she obtained an MSc in organic chemistry, and then qualified in clinical laboratory sciences at Waikato Hospital. She gained postgraduate experience in hospital laboratories in
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Europe and North America and also fulfilled her ambition to travel the world. During her return overland to New Zealand, she spent several months as an assistant with John Allegro’s group excavating in the Dead Sea area: in 1963 she took up a post in the renal unit of an Auckland hospital.
This provided her with her first introduction to the pyrimidines and purines and their nucleotides and, as everyone in the field knows, the rest is history. “It all began when I was asked to help Dr David Becroft, head of the Princess Mary Children’s Hospital, to investigate a baby boy, half-Maori and half-Irish, who was failing to thrive, had an untreatable anaemia, and was passing unidentifiable crystals. My job was to identify the crystals. This child is the longest survivor with the rare pyrimidine disorder, hereditary orotic aciduria.” He was treated simply by dietary uridine, which replaced the missing metabolite and allowed him to thrive.
Anne moved to Britain and continued to investigate the effects of allopurinol on patients with gout and renal disease: during the course of these studies at the Wellcome Foundation she developed sensitive methods for the separation and identification of purine and pyrimidine metabolites for which she was awarded her PhD from London University.
In 1970, she was invited to set up the Purine Research Laboratory at Guy’s Hospital to study purine metabolism in gout and renal failure. The laboratory soon became an international diagnostic centre where many of the first cases of specific genetic defects involving purines and pyrimidines in Britain and in many other countries were diagnosed. She worked tirelessly to improve the career structure and working conditions for non-clinical scientists in clinical departments. One very important outcome of this effort was the formation of the Association of Researchers in Medicine and Science (ARMS), with the aim of defining and improving the career structure for basic scientists and clinicians in clinical research. As a result of extensive lobbying by Simmonds, the Purine Research Laboratory became NHS-funded in 1990. It moved to St. Thomas’ Hospital following the merger of Guy’s, King’s and St Thomas’ Hospitals as constituents of King’s College London. She continued to work in the lab, collaborating with researchers in many aspects of purine and pyrimidine metabolism, until her retirement in May 2008.
PUMPA’S SEVENTEENTH ANNUAL GENERAL MEETING
PUMPA’s 17th AGM was held on the 14th November 2009, in the Histopathology Seminar Room, St Thomas’ Hospital. The Chairman presented the Trustees’ annual report covering the events of the year, and welcomed Dr Elizabeth Carrey as a new committee member. All current committee members agreed to remain in their current posts. The committee for the following year is as follows
Chairman:Professor David Perrett (acting)
Hon. Treasurer:Malcolm Reid
Hon. Secretary:Dr Bridget Bax (acting)
Committee:Trish Bullen
Dr Elizabeth Carrey
Dr Lynette Fairbanks
Nik Hoexter
Margot Lucas
Dr Mary McBride.
The AGM was followed by lunch and a seminar with the title, ‘Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) - a recently recognised disease’ The seminar began with a presentation by Dr Murray Bain on the relevance of this disorder to PUMPA. Dr Lynette Fairbanks then talked about the diagnosis of MNGIE in the laboratory. Dr Bridget Bax of St. George’s University of London made a presentation entitled ‘The road to treatment - the story so far’, and this was followed by a case presentation by Dr Nicholas Moran from Kings College Hospital, London. This was followed by Jan and Peter Robinson who very kindly gave up their time to talk about their family experience in caring for their daughter Rosie who was diagnosed with MNGIE at the age of 21 and who sadly died a year later from this disease.
RESEARCH GRANT TO SUPORT CLINICAL TRIAL APPLICATIONS
Research scientist Dr Bridget Bax from St. George’s University of London recently received an award from the Medical Research Council to conduct regulatory studies and develop a manufacturing pathway for an enzyme replacement therapy for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). This rare pyrimidine disorder is caused by an absence of the enzyme thymidine phosphorylase and results in severe gastrointestinal dysmotility, loss of sensation and severe muscle weakness. There is currently no recognised treatment or cure for this disorder. Data from these studies will support clinical trial applications to the regulatory bodies in Europe and the USA.
Dr H. Anne Simmonds Commemorative lecture
PUMPA is delighted to announce that Dr Vanna Micheli of the University of Siena, and an old friend of Anne's has agreed to give a H. Anne Simmonds Commemorative lecture at the 14th International Symposium on Purine and Pyrimidine Metabolism in Man, which is to be held in Tokyo, Japan, 18-21 February 2011.
DONATIONS
PUMPA would like to say a big “thank you” for all the generous donations received in memory of Dr Anne Simmonds. Your support is very much appreciated by the Association.
18th AGM and SEMINAR
Due to difficulties in arranging a date suitable for all our invited speakers, the committee has decided to postpone PUMPA’s 18th AGM and seminar to the spring of 2011. The seminar will focus on Purines and Personalised Medicine. Further details will be announced in our next newsletter.
IMPROVING DIAGNOSIS OF LESCH-NYHAN DISEASE (LND)
Members will remember that PUMPA’s Medical Patron, Dr Gillian McCarthy, was awarded a two year grant by PUMPA to assist in carrying out a survey to establish the number of childhood cases of LND in the UK. PUMPA was delighted to receive the following communication from Dr McCarthy:
“I am very pleased that my paper entitled' A population study of Lesch-Nyhan disease in the UK' has been accepted for publication in Developmental Medicine and Child Neurology. It is published online at the moment so access is limited at present. It has taken five years to complete and I was supported and encouraged by Anne Simmonds and Lynette Fairbanks along the way. PUMPA also supported the study financially, thanks to them. I am very pleased that Dr Hyder A Jinnah has written a short commentary supporting the paper and the challenge of rare diseases.”
Details of Dr McCarthy’s publication are as follows: 'A population study of Lesch-Nyhan disease in the UK' Gillian T McCarthy, Elizabeth M Green, Oluwafemi Ogunbona, H Anne Simmonds, Lynette Fairbanks, Terry Pountney, Elizabeth Bryant. Developmental Medicine and Child Neurology. Accepted for publication July 2010.
MEMBERSHIP
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Please contact the secretary (address below) if you have changed your address or if you would to contribute any items of news to the next Newsletter or PUMPA’s website. Photographs welcome too!
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