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Developmental Disorders
  • Genetics of Perrault Syndrome
  • RAS-MAPK
  • HumGenDis
  • Renal
  • BINGO
  • Brain Development
  • COG
  • Craniofacial malformations
  • IDFOW
  • Di George Syndrome
  • IMAGINE
  • ISO
  • LymRes
  • STAARS
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NEWS & EVENTS

  • 24th March 2020

    Coronavirus (COVID-19) advice for patients with rare genetic disorders

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  • 11th February 2020

    Rare Disease Day – 29th February, 2020

    Read More

  • 21st October 2019

    Strategy Vlog: Genomics

    Read More

Tweets by NWGLH

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

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Running late for an appointment? 0161 701 0254
Other enquiries: 0161 276 6506
Paediatric Metabolic disorders: 0161 701 2137 (9am-5pm, Mon-Fri)
0161 276 1234 (out of hours)
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