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Exploring medical genetics on the web
DISSECTING ROOM
Exploring medical genetics on the web Blazing A Genetic Trail http://www.hhmi.org/GeneticTrail Contact a Family http://www.cafamily.org.uk/index.html Genetic conditions/Rare Conditions Support Groups & Information http://www.kumc.edu/gec/support/groups.html Online Mendelian Inheritance In Man http://www3.ncbi.nlm.nih.gov/omim he importance of genetics in medicine “can hardly be overstated”, says Purnell Choppin, president of the Howard Hughes Medical Institute (HHMI) in his foreword to Blazing A Genetic Trail; a highly readable and well-illustrated genetics tutorial arranged like a book—with table of contents, chapters, and glossary—on the HHMI website. For a quick genetics refresher, click on the Brief Key to Basic Genetics section. From there, try Why So Many Errors in Our DNA, which provides an excellent overview of genes, their proteins, and the mutations responsible for some of the more common genetic disorders. A rationale for the ubiquitous use of mice in genetic studies is also presented, and the visitor is introduced to such colourful-sounding murine models as “stargazer”, “twitcher”, and “shiverer”. The cystic fibrosis section provides insight into the journey from
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gene studies to bedside, and How To Conquer A Genetic Disease teases apart the basic science of the investigative process, as researchers ask “What gene is at fault? What protein does the gene produce? Can the defective protein be fixed or replaced?” Overall, Blazing A Genetic Trail is a cogent, informative, and entertaining read. For up-to-date details on specific genetic disorders, turn to the US National Center for Biotechnology Information’s (NCBI) Online Mendelian Inheritance In Man (OMIM) database, maintained by the Johns Hopkins School of Medicine. OMIM provides a wealth of information—clinical and biochemical features, diagnostic criteria, molecular and population genetics, animal models, inheritance, and gene mapping— on almost every identified genetic syndrome. Pictures, references, and “copious links” to NCBI’s Entrez
The Nobel Chronicles n 1927, Julius Wagner-Jauregg was awarded the Nobel Prize in Physiology or Medicine “for discovering the therapeutic value of malaria for dementia paralytica”. He was born Julius Wagner in Wels, Austria, but in later years the hyphenated “Jauregg” replaced “von”, his father’s title of nobility that was discontinued after World War I. WagnerJauregg studied medicine in Vienna and later, without training, began work as a psychiatrist. About the choice of this specialty he once said “it harmed neither myself nor psychiatry”.
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1714
The Nobel Foundation
1927: Julius WagnerJauregg (1857–1940)
Untreated syphilis often led to the dreaded dementia paralytica, general paralysis of the insane (GPI). In 1887, Wagner-Jauregg noted that when patients with GPI developed fevers from other causes, their mental status improved, sometimes for years. After long contemplation and analyses of the available data, he felt convinced that “fever therapy” might work in neurosyphilis. In 1917, WagnerJauregg saw a patient with a mild case of tertian malaria. He injected that patient’s blood into nine patients with GPI, all of whom developed malaria as predicted. On
database of MEDLINE articles and sequences are also offered. The complete text of the database, as well as gene and morbid maps, can be downloaded free of charge from the site. Another useful website is the Genetic Conditions/Rare Conditions Support Groups & Information directory, maintained by the University of Kansas Medical Center, which presents information on hundreds of genetic conditions and birth defects, as well as contact details of research and support organisations worldwide. Also useful are its links to web resources for locating genetic counsellors and clinical geneticists, and sites for siblings of children with genetic and rare diseases. Links are also provided to the major World Wide Web search engines and to sites that translate documents into other languages. And the website of Contact a Family, a UK-based charity, offers sensitively written material for parents of children with genetic conditions (material can be downloaded free of charge from the site), as well as a patientoriented genetics glossary and a dictionary of useful terms. Details on specific conditions for which UK family support-networks exist are available by subscription.
Marilynn Larkin [email protected]
follow-up, three were “cured”, three improved slightly, two were unchanged, and one died of malaria. Encouraged by these results, WagnerJauregg continued “malaria therapy” for GPI and reported 83% remission. After initial reluctance, other experts followed suit. Thousands of patients were treated worldwide, and until the advent of penicillin, fever therapy remained the mainstay for GPI. The only psychiatrist to receive a Nobel Prize, Wagner-Jauregg remains a controversial figure, but we must regard his work in the context of the prevailing science. Neurosyphilis was dreadful and incurable, and “desperate maladies justify desperate remedies” was the notion prevalent then. Wagner-Jauregg regarded mental illnesses as biological entities for which he sought “physical” cures. In this regard, his views—though not his remedies—seem contemporary. Tonse N K Raju University of Illinois, Chicago, IL, USA
THE LANCET • Vol 352 • November 21, 1998
Exploring medical genetics on the web Blazing A Genetic Trail http://www.hhmi.org/GeneticTrail Contact a Family http://www.cafamily.org.uk/index.html Genetic conditions/Rare Conditions Support Groups & Information http://www.kumc.edu/gec/support/groups.html Online Mendelian Inheritance In Man http://www3.ncbi.nlm.nih.gov/omim he importance of genetics in medicine “can hardly be overstated”, says Purnell Choppin, president of the Howard Hughes Medical Institute (HHMI) in his foreword to Blazing A Genetic Trail; a highly readable and well-illustrated genetics tutorial arranged like a book—with table of contents, chapters, and glossary—on the HHMI website. For a quick genetics refresher, click on the Brief Key to Basic Genetics section. From there, try Why So Many Errors in Our DNA, which provides an excellent overview of genes, their proteins, and the mutations responsible for some of the more common genetic disorders. A rationale for the ubiquitous use of mice in genetic studies is also presented, and the visitor is introduced to such colourful-sounding murine models as “stargazer”, “twitcher”, and “shiverer”. The cystic fibrosis section provides insight into the journey from
T
gene studies to bedside, and How To Conquer A Genetic Disease teases apart the basic science of the investigative process, as researchers ask “What gene is at fault? What protein does the gene produce? Can the defective protein be fixed or replaced?” Overall, Blazing A Genetic Trail is a cogent, informative, and entertaining read. For up-to-date details on specific genetic disorders, turn to the US National Center for Biotechnology Information’s (NCBI) Online Mendelian Inheritance In Man (OMIM) database, maintained by the Johns Hopkins School of Medicine. OMIM provides a wealth of information—clinical and biochemical features, diagnostic criteria, molecular and population genetics, animal models, inheritance, and gene mapping— on almost every identified genetic syndrome. Pictures, references, and “copious links” to NCBI’s Entrez
The Nobel Chronicles n 1927, Julius Wagner-Jauregg was awarded the Nobel Prize in Physiology or Medicine “for discovering the therapeutic value of malaria for dementia paralytica”. He was born Julius Wagner in Wels, Austria, but in later years the hyphenated “Jauregg” replaced “von”, his father’s title of nobility that was discontinued after World War I. WagnerJauregg studied medicine in Vienna and later, without training, began work as a psychiatrist. About the choice of this specialty he once said “it harmed neither myself nor psychiatry”.
I
1714
The Nobel Foundation
1927: Julius WagnerJauregg (1857–1940)
Untreated syphilis often led to the dreaded dementia paralytica, general paralysis of the insane (GPI). In 1887, Wagner-Jauregg noted that when patients with GPI developed fevers from other causes, their mental status improved, sometimes for years. After long contemplation and analyses of the available data, he felt convinced that “fever therapy” might work in neurosyphilis. In 1917, WagnerJauregg saw a patient with a mild case of tertian malaria. He injected that patient’s blood into nine patients with GPI, all of whom developed malaria as predicted. On
database of MEDLINE articles and sequences are also offered. The complete text of the database, as well as gene and morbid maps, can be downloaded free of charge from the site. Another useful website is the Genetic Conditions/Rare Conditions Support Groups & Information directory, maintained by the University of Kansas Medical Center, which presents information on hundreds of genetic conditions and birth defects, as well as contact details of research and support organisations worldwide. Also useful are its links to web resources for locating genetic counsellors and clinical geneticists, and sites for siblings of children with genetic and rare diseases. Links are also provided to the major World Wide Web search engines and to sites that translate documents into other languages. And the website of Contact a Family, a UK-based charity, offers sensitively written material for parents of children with genetic conditions (material can be downloaded free of charge from the site), as well as a patientoriented genetics glossary and a dictionary of useful terms. Details on specific conditions for which UK family support-networks exist are available by subscription.
Marilynn Larkin [email protected]
follow-up, three were “cured”, three improved slightly, two were unchanged, and one died of malaria. Encouraged by these results, WagnerJauregg continued “malaria therapy” for GPI and reported 83% remission. After initial reluctance, other experts followed suit. Thousands of patients were treated worldwide, and until the advent of penicillin, fever therapy remained the mainstay for GPI. The only psychiatrist to receive a Nobel Prize, Wagner-Jauregg remains a controversial figure, but we must regard his work in the context of the prevailing science. Neurosyphilis was dreadful and incurable, and “desperate maladies justify desperate remedies” was the notion prevalent then. Wagner-Jauregg regarded mental illnesses as biological entities for which he sought “physical” cures. In this regard, his views—though not his remedies—seem contemporary. Tonse N K Raju University of Illinois, Chicago, IL, USA
THE LANCET • Vol 352 • November 21, 1998