ERN-ITHACA – Birmingham Centre

Lead:  Dr Larissa Kerecuk

West Midlands Regional Clinical Genetics Service

Clinical Genetics Unit Birmingham

Women’s NHS Foundation Trust

Metchley Park Road





Telephone: +44 (0)121 627 2630




The area of expertise of the Birmingham Centre of the ITHACA European Reference Network (ERN) covers all syndromes exhibiting developmental anomalies and/or intellectual disability (ID). About 1/40 newborn has a congenital malformation (261/10000 fetuses and newborn following EuroCAt reports), and 1/40 has ID. Therefore, 3 to 5 % of all human births show or will develop a developmental anomaly, among which at least 25-50% are of genetic or genomic origin. This huge population represents actually the addition of a very large number of individually rare disorders showing an extreme diversity of causes and phenotypes. The scope of expertise of Lille ITHACA Centre includes:

  • Over 5500 dysmorphic and multiple congenital anomalies (MCA) syndromes (listed in the London Dysmorphology Database), among which over 3000 monogenic diseases, all chromosome abnormalities (most of them only detectable through array technologies), multifactorial, sporadic dysmorphological anomalies and embryofetopathies of environmental origin
  • Over 1500 monogenic and hundreds chromosomal forms of ID with or without autism spectrum disorder (ASD).

Service 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

Organization of the ERN ITHACA 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.