Limitations of Genealogy in Evaluating Familial Diseases

The multiple occurrence of a specific disease in a family tree might at first sight be suggestive of genetic inheritance or, at least, association with some factor which has been constant across generations.  This is not, however, a foregone conclusion.  Moreover, it is possible to have a strong propensity for genetic disease which does not even show up in the family tree.  In this presentation, I will use examples, primarily from disorders detectable in the prenatal period, to illustrate how different genetic disorders might appear in the family tree.  The examples will include Mendelian disorders (recessive, dominant and X-linked genes), those due to inter-generational changes (fragile genes) and multi-factorial disorders which have a mixture of both genetic and non-genetic components. 

Howard Cuckle, Emeritus Professor, Reproductive Epidemiology, University of Leeds

Prof. Cuckle is an international authority on screening, particularly in the antenatal period. His principal research technique is the linked biological and data bank.

He is associated with the Perinatal Quality Foundation which runs the largest NT education and quality review program in the USA.

He was Professor of Reproductive Epidemiology, University of Leeds, UK. from 1991 and visiting Associate Professor, Obstetrics and Gynecology, Tel Aviv University,  Adjunct Professor, Obstetrics and Gynecology, Columbia University Medical Center, New York, USA;

He is a member of various national and international scientific committees, and editorial boards, and he was formerly President of the International Society for Prenatal Diagnosis

He has 520 publications in books and medical journals, to his name. In addition, genealogy has been a personal interest for more than 30 years.

This lecture was part of the Heshvan Event, November 2022

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