Renata Laxova (July 15, 1931 – November 30, 2020) was a Czech American pediatric geneticist and a professor of genetics at the Departments of Pediatrics and Medical Genetics, Waisman Center,

University of Wisconsin–Madison The University of Wisconsin–Madison (University of Wisconsin, Wisconsin, UW, UW–Madison, or simply Madison) is a public land-grant research university in Madison, Wisconsin, United States. It was founded in 1848 when Wisconsin achieved st ...

. She was the discoverer of the Neu-Laxová syndrome, a rare congenital abnormality involving multiple organs, with autosomal recessive inheritance.

Biography

She was born and educated in

Brno Brno ( , ; ) is a Statutory city (Czech Republic), city in the South Moravian Region of the Czech Republic. Located at the confluence of the Svitava (river), Svitava and Svratka (river), Svratka rivers, Brno has about 403,000 inhabitants, making ...

Czechoslovakia Czechoslovakia ( ; Czech language, Czech and , ''Česko-Slovensko'') was a landlocked country in Central Europe, created in 1918, when it declared its independence from Austria-Hungary. In 1938, after the Munich Agreement, the Sudetenland beca ...

, and survived

The Holocaust The Holocaust (), known in Hebrew language, Hebrew as the (), was the genocide of History of the Jews in Europe, European Jews during World War II. From 1941 to 1945, Nazi Germany and Collaboration with Nazi Germany and Fascist Italy ...

by inclusion in the

Kindertransport The ''Kindertransport'' (German for "children's transport") was an organised rescue effort of children from Nazi Nazism (), formally named National Socialism (NS; , ), is the far-right politics, far-right Totalitarianism, total ...

, and spent the war years in England. She returned to Czechoslovakia after the war, received a medical degree and training as a pediatrician there. Her Doctoral thesis from the University of Brno was ''Genetika isoamylas: Studie nového lidského polymorfismu.'' (in English: "Genetics of

Isoamylase Isoamylase (, ''debranching enzyme'', ''glycogen α-1,6-glucanohydrolase'') is an enzyme with systematic name ''glycogen 6-α-D-glucanohydrolase''. It catalyses the hydrolysis of (1→6)-α-D-glucosidic branch linkages in glycogen, amylopectin an ...

s: Study of the New Human Polymorphism") in 1967. After the

invasion of Czechoslovakia On 20–21 August 1968, the Czechoslovak Socialist Republic was jointly invaded by four fellow Warsaw Pact countries: the Soviet Union, the Polish People's Republic, the People's Republic of Bulgaria, and the Hungarian People's Republic. The in ...

in August 1968, she escaped a second time to England, where she worked with

Lionel Penrose Lionel Sharples Penrose, FRS (11 June 1898 – 12 May 1972) was an English psychiatrist, medical geneticist, paediatrician, mathematician and chess theorist, who carried out pioneering work on the genetics Genetics is the study of ...

at the Kennedy-Galton Centre for Medical and Community Genetics in London on mental retardation. She was appointed to the faculty at the University of Wisconsin-Madison in 1975, where she worked in its research center for human developmental disabilities, the Waisman Center, on prenatal diagnosis and genetics counseling. She became professor emeritus in 2003.

Publications

Laxova was the author of 64 peer-reviewed papers, as shown in

Scopus Scopus is a scientific abstract and citation database, launched by the academic publisher Elsevier as a competitor to older Web of Science in 2004. The ensuing competition between the two databases has been characterized as "intense" and is c ...

. Her most cited are: *"Diagnostic criteria for Walker-Warburg syndrome" by Dobyns, W.B., Pagon, R.A., Armstrong, D., Curry, C.J.R., Greenberg, F., Grix, A., Holmes, L.B., Laxova, R., Michels, V.V., Robinow, M., Zimmerman, R.L. '' American Journal of Medical Genetics'' Volume 32, Issue 2, 1989, Pages 195–210. Cited 207 times *"The critical region of the human Xq" by Therman, E., Laxova, R., Susman, B. ''Human Genetics'' Volume 85, Issue 5, 1990, Pages 455-461 cited 85 times *"Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism" by Lee, S.-T., Nicholls, R.D., Bundey, S., Laxova, R., Musarella, M., Spritz, R.A. ''New England Journal of Medicine'' Volume 330, Issue 8, February 24, 1994, Pages 529–534, cited 80 times.

References

{{DEFAULTSORT:Laxova, Renata 1931 births 2020 deaths University of Wisconsin–Madison faculty Kindertransport refugees Masaryk University alumni American geneticists Czech Jews Czechoslovak emigrants to the United States American women non-fiction writers Czechoslovak expatriates in the United Kingdom American women academics 21st-century American women