ERN- ITHACA – Birmingham Centre


The West Midlands Regional Genetics Service based in Birmingham Women’s Hospital cares for the largest population served by a single Clinical Genetics department in the United Kingdom (over 5.3 million, including a substantial ethnic minority population). The service is part of a comprehensive genetics service with excellent regional cytogenetic, molecular genetic, metabolic disease, inherited haemostatic disorder and screening services all of which work closely together. The size and nature of the population and the close relationship with the regional genetics service and university departments, offer excellent opportunities for clinical research and service development. Birmingham Children’s Hospital is a tertiary referral centre providing general and specialist paediatric care for children and young people in the West Midlands and the UK.

Organisation of the ITHCA ERN- Birmingham Centre

Birmingham Women’s and Children’s NHS Foundation Trust, made up of Birmingham Women’s Hospital and Birmingham Children’s Hospital, is the home of the West Midlands Regional Genetics Service and will also see the first Rare Disease Centre for Children in the UK opening in early 2018. The Birmingham centre is closely linked to the Rare Disease Centre at University Hospital of Birmingham and is integral to the West Midlands Genomic Medicine Centre. There is also very close collaboration with the University of Birmingham. The expertise in the field of rare disease is longstanding both as a centre for clinical service and research going back over 60 years.

Services to patients

The Birmingham centre offers a comprehensive general and specialist clinics for children, adult and pregnant women:

  • General genetics clinic at >20 different centres in the West Midlands
  • >25 Specialist clinics e.g. Bardet- Biedel syndrome, Alstrom Syndrome, Wolfram syndrome
  • Joint Multidisciplinary Specialist Clinics including Craniofacial, Neurometabolic, Fetal Medicine, Skeletal Dysplasia, Neurogenetics, Ophthalmic genetics, von Hippel Lindau, Arthrogryposis
  • Prenatal Diagnosis, Non-invasive prenatal diagnosis/testing, Preimplantation Genetic Diagnosis
  • The largest diagnostic genetics laboratory in the UK offering genetic and genomic investigations including arrays and NGS as well as full support of classic medical laboratories, medical imaging, electrophysiology and a regional fetal pathology service.

Further information

Lead:  Dr Larissa Kerecuk

West Midlands Regional Clinical Genetics Service

Clinical Genetics Unit

Birmingham Women’s NHS Foundation Trust

Metchley Park Road, Edgbaston



Tel:        0121 335 8024