Dr Katherine Schon

I am an assistant professor in the Department of Genomic Medicine and an honorary consultant clinical geneticist. My research focusses on the genetics of neurological disorders, especially mitochondrial disorders. I completed my PhD on mitochondrial disease in 2023, supervised by Professor Patrick Chinnery and Professor Rita Horvath in the Department of Clinical Neurosciences.  

My research on the molecular diagnosis of mitochondrial disorders has focused on the 100,000 genomes project. In families with ‘suspected mitochondrial disorders’, I found a high proportion of non-mitochondrial disorders, highlighting the significant clinical overlap between mitochondrial disorders and other genetic disorders. This helps guide our testing strategy. We are now looking at mitochondrial DNA disorders across the rare disease cohort, and at integrating RNA sequencing and long read sequencing approaches.  

I am working with the National Disease Registration Service to use routinely collected healthcare data to learn more about the natural history of mitochondrial disorders. I am also committed to clinical research and am part of the medical team for several clinical trials / experimental medicine studies. 

As a clinical geneticist, the DECIPHER database is a crucial resource for variant interpretation and sharing of clinical and genetic information for diagnosis and discovery. I am working with the DECIPHER team, bringing a clinical perspective and ensuring that cutting edge tools are integrated in a safe and clinically meaningful way. Finally, I am the clinical geneticist for a joint clinic with paediatric neurology for children with Congenital Insensitivity to Pain from around the UK.  

Project/study information

Improving the diagnosis of mitochondrial disorders in the 100,000 genomes project and National Genomic Research Library 

International Centre for Genomic Medicine in Neuromuscular Disorders 

NIHR BioResource RNA phenotyping study and long read sequencing study.  

MitoCAMB Cambridge Clinical Mitochondrial Research Group 

LifeArc Centre for Rare Mitochondrial Diseases. 

DECIPHER