From Mendel to Medical Genetics

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F17%3A10373526" target="_blank" >RIV/00216208:11130/17:10373526 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/17:10373526

Výsledek na webu

<a href="https://doi.org/10.1038/ejhg.2017.157" target="_blank" >https://doi.org/10.1038/ejhg.2017.157</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/ejhg.2017.157" target="_blank" >10.1038/ejhg.2017.157</a>

Jazyk výsledku

angličtina

Název v původním jazyce

From Mendel to Medical Genetics

Popis výsledku v původním jazyce

Only a few years after the rediscovery of Mendel&apos;s laws of inheritance in 1900, the first human genetic disorders and variants were described.1, 2 Although these disorders were considered to be rare exceptions, the number of disorders to follow a Mendelian pattern of inheritance increased slowly. Victor McKusick, in his first volume of Mendelian Inheritance in Man published in 1966, listed 1486 entries, mainly phenotypes, whereas the current online catalogues contain over 8000 entries, with more than 5000 with a known molecular basis. The discovery of DNA as a carrier of the genetic code, its double helix structure and the rapidly developing possibility of the clinical use of chromosome- and DNA analyses made expertise in medical genetics (MG) valuable in health-care services and a subspecialty started to grow, mainly in gynaecology, neurology, paediatrics and laboratory medicine. With the birth of the European Union (EU), a need for collaboration between established specialities emerged and the Union of European Medical Specialists (UEMS)6 was founded in the same year that the Treaty of Rome7 was signed. UEMS is an association of national medical professional organisations which focus on the harmonisation of training and education of medical doctors within and across all medical specialties. A number of specialities were soon mutually recognised in the member states as equivalent in training, leading to a national speciality licence being mutually recognised in all member states. At this time, MG was not recognised in any European country. In this article, which includes the results of a recent survey, we describe the development of MG as a specialty in all European countries - not only within the EU itself - and the process undertaken in order to acquire its de iure recognition in the EU.

Název v anglickém jazyce

From Mendel to Medical Genetics

Popis výsledku anglicky

Only a few years after the rediscovery of Mendel&apos;s laws of inheritance in 1900, the first human genetic disorders and variants were described.1, 2 Although these disorders were considered to be rare exceptions, the number of disorders to follow a Mendelian pattern of inheritance increased slowly. Victor McKusick, in his first volume of Mendelian Inheritance in Man published in 1966, listed 1486 entries, mainly phenotypes, whereas the current online catalogues contain over 8000 entries, with more than 5000 with a known molecular basis. The discovery of DNA as a carrier of the genetic code, its double helix structure and the rapidly developing possibility of the clinical use of chromosome- and DNA analyses made expertise in medical genetics (MG) valuable in health-care services and a subspecialty started to grow, mainly in gynaecology, neurology, paediatrics and laboratory medicine. With the birth of the European Union (EU), a need for collaboration between established specialities emerged and the Union of European Medical Specialists (UEMS)6 was founded in the same year that the Treaty of Rome7 was signed. UEMS is an association of national medical professional organisations which focus on the harmonisation of training and education of medical doctors within and across all medical specialties. A number of specialities were soon mutually recognised in the member states as equivalent in training, leading to a national speciality licence being mutually recognised in all member states. At this time, MG was not recognised in any European country. In this article, which includes the results of a recent survey, we describe the development of MG as a specialty in all European countries - not only within the EU itself - and the process undertaken in order to acquire its de iure recognition in the EU.

Druh

O - Ostatní výsledky

CEP obor

—

OECD FORD obor

10600 - Biological sciences

Projekt

<a href="/cs/project/LM2015091" target="_blank" >LM2015091: Národní centrum lékařské genomiky</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2017

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů