Developmental Disorders

(Manchester led studies)

Genetics of Perraults Syndrome – hearing loss and ovarian insufficiency

HumGenDis – Molecular Pathology of Human Genetic Disease/ Clinical & Genetic Features of Condition

RAS-MAPK – Understanding the disorders of the RAS-MAPK pathway

Renal – Investigation of the genetic basis of renal tract abnormalities

 

(Externally led studies)

BINGO – Neuroanatomical, cognitive and behavioural phenotypes in intellectual disability of genetic origin

Brain Development – Genetic disorders of growth, development and the brain

COG – Childhood Overgrowth Study

Craniofacial Malformations – Genetic basis of craniofacial malformations

Di George Syndrome – A study of movement disorders in adults with 22q11 deletion syndrome

HumGenDis – Molecular Pathology Of Human Genetic Disease

IDFOW – Imprinting Disorders in Humans

IMAGINE – Intellectual Disability and Mental Health

ISO – Genetic and Physiological Investigation of Patients with Rare Segmental Overgrowth Disorders, Lipoblastomas or Hemihypertrophy

Lymres – Analysis of genes and their functions in patients with primary lymphoedema

STAARS – Study of Adults and Adolescents with Russell Silver syndrome in the UK