Senior Investigator Profile

TitleProfessor
First NameEamonn
SurnameMaher
Award StatusTerm 1
Current PostProfessor and Honorary Consultant
DepartmentMedical Genetics
Telephone44 1223746715
Emailerm1000@medschl.cam.ac.uk
InstitutionUniversity of Cambridge
NHS TrustCambridge University Hospitals NHS Foundation Trust
Region NameEast of England
Primary Research FieldGenetics & Heredity
Secondary Research FieldGenetics & Heredity
BiographyMuch of my research has been based on the study of patients and families with rare diseases and covers topics such as identifying novel genes and the links between genetic variations and disease complications. Identifying the genetic basis of rare diseases such as von Hippel-Lindau disease, Beckwith-Wiedemann syndrome and others has provided insights into basic cellular processes that can, in some cases, then enable the development of novel therapies. More immediately the implementation of improved genetic testing in the NHS has enabled improved management of families with hereditary tumour (e.g. kidney cancer and phaeochromocytoma) syndromes.
 

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