Disorders of the Human Brain: Genetics and Function

Summary

The brain is a highly complex structure frequently perturbed in human health, resulting in a wide variety of neurological disorders. To gain new insights into brain development and neurological disease, our starting point is the identification of genes for recessively inherited neurological disorders. Through further study of these genes function we aim to further define their biological function and understand the disease mechanisms of common, complex trait, neurological and immunological disorders.

Current Funding

• MRC Senior Clinical Fellowship
• MRC Human Genetics Unit
• MRCT Development Gap Fund
• Lister Institute Prize Fellowship
  

Lab Members

Current lab members involved in this work are:

• Dr Louise Bicknell
  Postdoctoral researcher
• Dr Martin Reijns
  Postdoctoral researcher
• Andrea Leitch
  Senior research technician
• Carol-Anne Martin
  PhD student
• Rachel Rigby
  PhD student
• Rachel White
  MRCT: small molecule screen
• Katy Astell
  PhD student

Themes

• Disorders of Human Brain Size:
  Primary Microcephaly
  Primordial Dwarfism
  

• Autoimmune Disease of the Brain
  Aicardi Goutieres Syndrome
  

Other Links

Research Study Information
Laboratory Publications

Purpose

The overall aim of this programme is to gain mechanistic biological insights from the identification of human disease genes, and the study of the proteins they encode in cells and in model organisms.

Collaborations

Disorders of Brain Size

• Professor Penny Jeggo and Dr Mark
  O Driscoll
  MRC Genome Damage and Stability Centre, Brighton.
• Professor David Strutt and Professor Phil Ingham
  MRC Developmental Genetics Centre, Sheffield.
• Dr. Paola Vagnerelli and Professor Bill Earnshaw
  ICMB, Edinburgh
• Dr Gareth Sullivan and Professor Siddharthan Chandran, Edinburgh.
• Dr Mike Bober, Dr Carol Wise
  the Potentials Foundation, Walking with Giants Foundation
• Dr Ernie Bongers (Meier Gorlin syndrome)
  Nijmegen, the Netherlands

AGS

• Professor Steve Anderton and Dr Andrew MacDonald
  Institute of Immunology and Infection Research, Edinburgh.
• Dr Doryen Bubeck and Professor Yvonne Jones
  Division of Structural Biology, Oxford.
• Dr Bob Crouch
  NICHD, NIH, Bethesda, USA.
• Professor John Fazakerely
  Roslin Institute, Edinburgh.
• Dr David Brownstein
  Univeristy of Edinburgh.