Abstrakt
The Czech human geneticist Eva Seemanová in Prague celebrated her 80th birthday on April 3, 2019. From 1971 to approx. 2016 Eva Seemanová enriched the field of medical genetics through numerous clinical genetic contributions not only in the Czech Republic, the former Czechoslovakia, but above all also internationally.
There are special relationships with the GfH through her collaboration with numerous colleagues in Germany. The basis is formed by 260 scientific papers in Czech and around 180 papers in international journals with peer review and a high impact factor.
Eva Seemanová is a co-author in three scientific books. The systematic clinical and genetic analysis of genetic diseases is their domain.
In parallel with the methodological development in molecular genetics and cytogenetics, E.S. In addition to new medical genetic findings, they also contributed significantly to their molecular basis.
The Nijmegen Breakage Syndrome (NBS) plays a central role in their scientific activities. It recorded almost all Czech individuals and carried out systematic follow-up checks, mapping the gene to 8q21, identifying mutations in nibrin as the cause, identifying a 657del5 mutation in NBS in Slavic populations and their clinical variability.
The basic clinical data obtained led to the knowledge that a telomerase catalytic subunit is involved in NBS. Further contributions to the NBS concern radiation-induced DNA damage and increased cancer risk in heterozygotes as well as the clinical manifestation spectrum of NBS.
In 2016, she asked the question of increased reproductive fitness in heterozygotes for the Slavic founding mutation 657del5. A systematic study of children from incest connections attracted international attention early in their careers.
This was followed by contributions to numerous malformation syndromes such as Noonan syndrome, LEOPARD syndrome, mutations in SmithLemli-Opitz syndrome in European populations, Holt-Oram and TAR syndromes and their mutations. Eva Seemanová contributed to understanding the manifestations and causes of a number of other diseases, such as Generalized lipodystrophy, Berardinelli-Seip lipodystrophy, Rubinstein-Taybi syndrome, polycystic kidney disease in nephronophthisis 11, SALL1 mutations in Townes-Brocks syndrome, fragile X chromosome, PAX3 gene structure in relation to Waardenburg syndrome and Splotch in the mouse, allele mutation, Mulib gene mutation, gene mutation of alkaptonuria in Central Europe, screening for hyperphenylalalinemia and other diseases and problems.
Several contributions have been made to the spectrum of manifestations of microdeletions. Many other international and all Czech works were not considered here.
Almost all of these publications are original works based on broad international cooperation. Prof.
MUDr. Eva Seemanová was born on April 3, 1939 in Louny near Prague.
She studied medicine at the Charles University in Prague from 1956 to 1962, followed by training in pediatrics from 1962 to 1968 at the University Children's Hospital in Prague. In 1969 she took over the management of the genetic outpatient clinic at Charles University in Motol-Prague.
She completed her habilitation as a lecturer in 1990. She completed her training with stays abroad in Berlin (1987 and 1997), New York (1991), Helena, Montana / USA (1991), Rotterdam (1991) and Essen (1994).
Eva Seemanová is an honorary member of numerous international scientific societies. From 1990 to 1995 she managed the Czech Society for Medical Genetics.
From 1991 to 2009 she was a member of the International Council for the Congress Organization Medical Genetics. After completing her own practice in medical genetics from 1994 to 2004 in Plaňany near Prague, she retired in 2016.
Eva Seemanová was married to the microbiologist MUDr. Jiří Seeman, DrSc.
From this marriage two sons (Pavel and Tomáš) and a daughter (Jana) emerged. Both sons are also active in scientific medicine (neurogenetics and pediatric nephrology) in Prague.