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Discovery and research
Published in Peter S. Harper, The Evolution of Medical Genetics, 2019
From a historical viewpoint a valuable account of the work leading to the isolation of the HD gene has been given by Gillian Bates (2005), at that point working with Hans Lehrach in London as part of one of the two British groups in the international HD consortium, and who has also subsequently been responsible for the production of a transgenic mouse model for the disorder. More background information on the international project overall can also be found in the interviews that I was able to make with a number of the key workers, including Gillian Bates herself [57], James Gusella and Marcia McDonald in Boston [82], Michael Conneally [22], Russell Snell [83] and Allan Tobin, scientific director of the Hereditary Disease Foundation [52] during the 10-year span of the project.
Ethical Considerations in Clinical Trials for Rare Genetic Diseases: The Case of Huntington’s Disease
Published in The American Journal of Bioethics, 2023
Adys Mendizabal, Nora L. Jones
There is a historical injustice here in that the genetic mutation associated with HD was discovered 30 years ago after decades of studying the world’s largest HD family and community in the State of Zulia, a marginalized region of Venezuela near Lake Maracaibo. In the late 1960s Milton Wexler, whose wife had been diagnosed with HD and whose daughters were at risk of developing the disease, created the Hereditary Disease Foundation (HDF), an advocacy organization focused on the scientific study of HD with the goal to develop a cure (Wexler 2012). Despite the development of genetic technologies in the 1970s which could have aided in the identification of the gene associated with HD, investigators needed to study large kindreds of patients and families. In 1979 Milton Wexler’s daughter Nancy created the US-Venezuela Collaborative Research Project. Over the next 23 years US and Venezuelan physicians visited Lake Maracaibo where they created family pedigrees, took detailed accounts of clinical history, performed clinical examinations, and obtained blood samples and skin biopsies from individuals with HD. These visits to Venezuela led both to the identification of the genetics of HD and to the development of tools that are still used worldwide for the clinical assessment of patients with HD.