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Repair gene for xeroderma pigmentosum
1182
In South Africa and
some European countries the law transsexual’s accepts right to marry in his/her new identity and gender. In 1976 the Supreme Court of New Jersey refused a husband’s claim that his marriage to a male-tofemale transsexual was void: "... if sex re-assignment surgery is successful ... we perceive no legal barrier, cognisable social taboo, or reason grounded in public policy to prevent that person’s identification at least for purposes of marriage, to the sex finally indicated." The decision in Corbett may not withstand the wind of change in further applications to the European Court of Human Rights, which acknowledges that this difficult area of medicine and law must be kept under review. a
European Court of Human Rights case 16 (1989) 176/232 (see Times Oct 17, 1990).
Diana Brahams 1.
Armstrong CN, Walton T. Transsexuals and the law. New Law J 1990 (Oct 5): 1384.
Obituary Juda Joannes Groen Professor Groen, a pioneer in several fields of medical research, and probably best known for his identification of the relation between psychological factors and somatic illness, died on June 16, aged 86. After graduation in 1927 from Amsterdam, Groen worked with Dodds and Harrison in London, Snapper in Amsterdam, and finally, in 1934, with Minot and Castle in Boston. By then he had realised the importance of studying "common" conditions, then largely neglected by the scientific community-hence his research into asthma, obesity, peptic ulcer, osteoporosis, hypertension, and nutrition. His work with the ophthahnologist Zeeman, published in 1938, was one of the earliest studies to show that serum cholesterol concentrations are susceptible to changes in diet. The Nazi occupation of Holland brought about Groen’s dismissal from Amsterdam University and restricted his practice to a few patients hiding from the Germans. With plenty of time to take their histories in minute detail, he found a relation between specific emotional conflicts and specific somatic diseases. After the war, a Rockefeller Foundation grant enabled him to continue his work in psychosomatic research, which soon resulted in major pioneering studies. The area with which Groen’s name will always be connected is asthma research. His studies into the mechanism of asthmatic wheezing showed how emotional factors can precipitate an asthmatic attack (Lancet 1957), a finding confirmed by his work on the effectiveness of group psychotherapy for asthmatic patients (7 Psychosom Res 1960). In the early 1970s he was the first to use the group approach in the education of diabetic patients, again with singular success. When head of a department of internal medicine in the Wilhelmina Gasthuis in Amsterdam, Groen, with his colleagues, attracted international attention with their original research studies on such diverse subjects such as the measurement of insulin levels in blood, potassium deficiency in animals, diabetic ketoacidosis, treatment of Addison’s disease with liquorice, the mechanics of ventilation in asthmatic patients, spinal hypertension, and galvanic resistance of the skin in relation to emotion. With his disdain for medical dogma and his original ideas and research results, which were often twenty years ahead of their time, there were the ahnost unavoidable clashes with the medical establishment, so in 1958 Groen left Amsterdam for the chair at the Hadassah University of Jerusalem, where he continued his research into coronary heart disease, the treatment of anorexia nervosa, and the behavioural characteristics of hypertension-prone rats. Recognition followed in the form of fellowships of postgraduate colleges abroad, a Royal decoration in Holland, and awards from scientific societies internationally.
Groen was a gifted teacher, whose lectures were gems of clarity and logic and always closed with hints about where the challenge lay. His intellectual curiosity was not restricted to medical science. He was a Spinoza scholar. He was also fascinated by Napoleon, whose medical history and whose physicians he studied. And around his much loved cottage in the woodlands of central Holland, he experimented in ecological forestry, his revolutionary ideas here drawing the attention of many experts. His most important bequest to the medical world could thus be said to be his conviction that tunnel vision is a scientist’s worst vice. M. Frenkel H. E. Pelser
Noticeboard Repair
gene
for xeroderma pigmentosum
Xeroderma pigmentosum (XP) is one of a group of rare inherited disorders that are associated with a greatly increased risk of cancer. In XP a defect in the enzymes that repair DNA damaged by ultraviolet (UV) light leads to multiple skin cancers. Because cells from XP patients readily mutate when exposed to known carcinogens in culture, the disorder has provided geneticists and oncologists with an invaluable model for examining the role of DNA damage and mutagenesis in the pathogenesis of cancer. Moreover, the observed association between DNA damage and mutation led to the suggestion that most if not all mutagens are carcinogenic and formed the basis of the test devised by Ames for measuring mutagenesis in Salmonella as a means of assessing the carcinogenic potential of chemicals. The isolation and sequencing of a human repair gene that complements the defective DNA in one form of xp1 is an important contribution to the understanding of genetic defences against cancer. Xeroderma pigmentosum displays considerable genetic heterogeneity. Last year Tanaka et al reported the cloning of a mouse gene, XPAC, that confers protection against UV light when transfected into cells from patients with XP group A, the commonest and most serious form of the disease. Last week, in Nature,1 they described the identification of a human XPAC gene which, like its murine counterpart, has no effect on cell lines from other forms of XP. The group A correcting gene is located on the long arm of chromosome 9 (9q34.1). 1. Tanaka K, Miura N, Satokata I, et al. Analysis of a human DNA excision repair gene involved in group A xerodermapigmentosumandcontainingazinc-fingerdomain. Nature 1990; 348: 73-76.
Resources for
community care
According to Caring for People, the Government white-paper published in the autumn of 1989 on the provision of community care for the mentally handicapped and the mentally ill, there will be no specific (ring-fenced) community care grant. How to ensure adequate resources for implementing the community care policy thus one of the main concerns of the House of Commons Social Services Committee as it examined the implications of the white-paper.! Since resources will come from various budgets spread across different Government departments, the committee recommends that an interdepartmental ministerial committee be established to oversee community care policy and to monitor the adequacy of resources for implementing that policy. The Social Services Committee found that although the number of patients in mental hospitals and units has fallen, the actual cost per resident inpatient has risen-ie, savings are not being made at the same rate as people are being discharged into the communityso provision has to be made for what is in effect double expenditure. With the depressed property market and the variability in value of hospital sites, the committee is doubtful about the Government proposal that health authorities enter into agreements with developers to build community facilities in return for all or part of the vacated hospital site. The committee expresses greater approval for the loans scheme, whereby 50 million was made available over was
In South Africa and
some European countries the law transsexual’s accepts right to marry in his/her new identity and gender. In 1976 the Supreme Court of New Jersey refused a husband’s claim that his marriage to a male-tofemale transsexual was void: "... if sex re-assignment surgery is successful ... we perceive no legal barrier, cognisable social taboo, or reason grounded in public policy to prevent that person’s identification at least for purposes of marriage, to the sex finally indicated." The decision in Corbett may not withstand the wind of change in further applications to the European Court of Human Rights, which acknowledges that this difficult area of medicine and law must be kept under review. a
European Court of Human Rights case 16 (1989) 176/232 (see Times Oct 17, 1990).
Diana Brahams 1.
Armstrong CN, Walton T. Transsexuals and the law. New Law J 1990 (Oct 5): 1384.
Obituary Juda Joannes Groen Professor Groen, a pioneer in several fields of medical research, and probably best known for his identification of the relation between psychological factors and somatic illness, died on June 16, aged 86. After graduation in 1927 from Amsterdam, Groen worked with Dodds and Harrison in London, Snapper in Amsterdam, and finally, in 1934, with Minot and Castle in Boston. By then he had realised the importance of studying "common" conditions, then largely neglected by the scientific community-hence his research into asthma, obesity, peptic ulcer, osteoporosis, hypertension, and nutrition. His work with the ophthahnologist Zeeman, published in 1938, was one of the earliest studies to show that serum cholesterol concentrations are susceptible to changes in diet. The Nazi occupation of Holland brought about Groen’s dismissal from Amsterdam University and restricted his practice to a few patients hiding from the Germans. With plenty of time to take their histories in minute detail, he found a relation between specific emotional conflicts and specific somatic diseases. After the war, a Rockefeller Foundation grant enabled him to continue his work in psychosomatic research, which soon resulted in major pioneering studies. The area with which Groen’s name will always be connected is asthma research. His studies into the mechanism of asthmatic wheezing showed how emotional factors can precipitate an asthmatic attack (Lancet 1957), a finding confirmed by his work on the effectiveness of group psychotherapy for asthmatic patients (7 Psychosom Res 1960). In the early 1970s he was the first to use the group approach in the education of diabetic patients, again with singular success. When head of a department of internal medicine in the Wilhelmina Gasthuis in Amsterdam, Groen, with his colleagues, attracted international attention with their original research studies on such diverse subjects such as the measurement of insulin levels in blood, potassium deficiency in animals, diabetic ketoacidosis, treatment of Addison’s disease with liquorice, the mechanics of ventilation in asthmatic patients, spinal hypertension, and galvanic resistance of the skin in relation to emotion. With his disdain for medical dogma and his original ideas and research results, which were often twenty years ahead of their time, there were the ahnost unavoidable clashes with the medical establishment, so in 1958 Groen left Amsterdam for the chair at the Hadassah University of Jerusalem, where he continued his research into coronary heart disease, the treatment of anorexia nervosa, and the behavioural characteristics of hypertension-prone rats. Recognition followed in the form of fellowships of postgraduate colleges abroad, a Royal decoration in Holland, and awards from scientific societies internationally.
Groen was a gifted teacher, whose lectures were gems of clarity and logic and always closed with hints about where the challenge lay. His intellectual curiosity was not restricted to medical science. He was a Spinoza scholar. He was also fascinated by Napoleon, whose medical history and whose physicians he studied. And around his much loved cottage in the woodlands of central Holland, he experimented in ecological forestry, his revolutionary ideas here drawing the attention of many experts. His most important bequest to the medical world could thus be said to be his conviction that tunnel vision is a scientist’s worst vice. M. Frenkel H. E. Pelser
Noticeboard Repair
gene
for xeroderma pigmentosum
Xeroderma pigmentosum (XP) is one of a group of rare inherited disorders that are associated with a greatly increased risk of cancer. In XP a defect in the enzymes that repair DNA damaged by ultraviolet (UV) light leads to multiple skin cancers. Because cells from XP patients readily mutate when exposed to known carcinogens in culture, the disorder has provided geneticists and oncologists with an invaluable model for examining the role of DNA damage and mutagenesis in the pathogenesis of cancer. Moreover, the observed association between DNA damage and mutation led to the suggestion that most if not all mutagens are carcinogenic and formed the basis of the test devised by Ames for measuring mutagenesis in Salmonella as a means of assessing the carcinogenic potential of chemicals. The isolation and sequencing of a human repair gene that complements the defective DNA in one form of xp1 is an important contribution to the understanding of genetic defences against cancer. Xeroderma pigmentosum displays considerable genetic heterogeneity. Last year Tanaka et al reported the cloning of a mouse gene, XPAC, that confers protection against UV light when transfected into cells from patients with XP group A, the commonest and most serious form of the disease. Last week, in Nature,1 they described the identification of a human XPAC gene which, like its murine counterpart, has no effect on cell lines from other forms of XP. The group A correcting gene is located on the long arm of chromosome 9 (9q34.1). 1. Tanaka K, Miura N, Satokata I, et al. Analysis of a human DNA excision repair gene involved in group A xerodermapigmentosumandcontainingazinc-fingerdomain. Nature 1990; 348: 73-76.
Resources for
community care
According to Caring for People, the Government white-paper published in the autumn of 1989 on the provision of community care for the mentally handicapped and the mentally ill, there will be no specific (ring-fenced) community care grant. How to ensure adequate resources for implementing the community care policy thus one of the main concerns of the House of Commons Social Services Committee as it examined the implications of the white-paper.! Since resources will come from various budgets spread across different Government departments, the committee recommends that an interdepartmental ministerial committee be established to oversee community care policy and to monitor the adequacy of resources for implementing that policy. The Social Services Committee found that although the number of patients in mental hospitals and units has fallen, the actual cost per resident inpatient has risen-ie, savings are not being made at the same rate as people are being discharged into the communityso provision has to be made for what is in effect double expenditure. With the depressed property market and the variability in value of hospital sites, the committee is doubtful about the Government proposal that health authorities enter into agreements with developers to build community facilities in return for all or part of the vacated hospital site. The committee expresses greater approval for the loans scheme, whereby 50 million was made available over was