David Fitzpatrick

David Fitzpatrick is Professor of Medical and Developmental Genetics at The University of Edinburgh’s Institute of Genetics & Molecular Medicine (IGMM).

Crucial in the treatment of children with developmental disorders is access to appropriate genetic testing. We work with colleagues across the UK to improve access to such clinical analysis.

The DDD project has recruited 14,000 families from the UK and Ireland with one or more affected individual with an undiagnosed severe or extreme developmental disorder. The most common genetic mechanism for such disorders has proven to be de novo mutations in which the affected individual has a genetic change that is not present in either parent. The pedigree on the right illustrated a pattern seen in de novo mutations.

As a Paediatric Geneticist, I see many children with severe intellectual disability, a significant proportion of whom also have autism or autistic spectrum disorders.

My research work can be divided into two main strands or themes.

The first studies children who are born with severe eye malformations, particularly missing eyes – known as anophthalmia and microphthalmia – small eyes or coloboma.

These children commonly have associated neurodevelopmental problems such as intellectual disability and autism. Our work in this area has led to a change in clinical diagnostic practice throughout the world.

The other main focus of research is to ensure that each affected family has access to the appropriate genetic testing to ensure that their child receives an accurate and specific molecular diagnosis.

To this end, I am the main curator of the UK-wide Deciphering Developmental Disorders (DDD) project, which catalogues the genes known to be associated with such disorders.

This project is a large-scale, family-based sequencing study that identifies new genetic causes of severe and extreme developmental conditions.

The ultimate aim of this research project is to identify treatment strategies that will improve the health and wellbeing of affected children and their families.

Email: david.fitzpatrick@igmm.ed.ac.uk

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