We all know about Gregor Mendel and his famous experiments with peas. However, did you know that a number of medical genetics principles were not given by Mendel, but by Dr Victor Mckusick? Read on to learn more about his contributions in the field, and how he came to be known as the Father of Medical Genetics.
Timeline: 1921-2008
Place of study:
- Tufts University, Massachusetts
- Johns Hopkins University School of Medicine, Baltimore
Contributions to the field of medicine:
- Dr Victor Mckusick is known as the Father of Medical Genetics owing to his extensive contribution in the field of genetic medicine.
- Starting out with cardiology and the Marfan syndrome, Victor formed a keen interest in the genetic basis of diseases. He founded the Division of Medical Genetics at John Hopkins, introducing genetics into mainstream clinical medicine. This became the first cytogenetics laboratory in a large general hospital.
- He illustrated a number of genetic principles through his studies in isolated populations, including the founder effect(when a new colony emerges from a subset of a larger population).
- Some of his pioneering observations include: G6PD and colour vision are closely linked on the X chromosome; Duffy blood group is located on chromosome 1.
- One of his most important contributions was the role he played in the founding of the Human Genome Project. He was an early proponent in the mapping of the human genome. According to Victor, mapping the human genome could ‘unravel the mysteries of birth defects and genetic diseases.’
Publications:
- Dr Victor published his first book on clinical and genetic aspects of heritable disorders of connective tissue, titled Heritable Disorders of Connective Tissue, in 1956.
- In 1966 he published the first edition of Mendelian Inheritance of Man, the book which has long been considered the bible of human genetics, which Victor later computerised. Its printout became one of the first computer-generated medical texts!
Awards and Achievements:
Dr Victor Mckusick was the recipient of numerous awards including:
- John Phillips Award of the American College of Physicians for contributions in internal medicine (1972)
- James Murray Luck Award from the National Academy of Sciences (1982)
- Sanremo International Prize for Genetic Research (1983).
- American Association of Physicians’ George M. Kober Medal (1990).
Dr Victor Mckusick was indeed ahead of his time and his contributions to biochemical, molecular and population genetics have significantly advanced the field of medical genetics and paved a way for advanced medical fields such as pharmacogenetics.
REFERENCES:
1. Victor A. McKusick Accessed from https://www.nature.com/articles/ng0908-1037.pdf Accessed on 22nd March 2021.
2. Victor A. Mckusick, M.D., “Father Of Medical Genetics,” 1921-2008. Accessed from https://www.hopkinsmedicine.org/news/media/releases/victor_a_mckusick_md_father_of_medical_genetics_1921_2008 Accessed on 22nd March 2021.
3. NHGRI Pays Tribute to a Giant of Medical Genetics Accessed from https://www.genome.gov/27527148/nhgri-pays-tribute-to-a-giant-of-medical-genetics Accessed on 22 March 2021.
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