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Dr. Noemi Roy

Locum Consultant Haematologist

University of Oxford
Department of Haematology, Churchill Hospital, Old Rd, Headington OX3 7LE, UK OX3 7LE Oxford • United Kingdom
My work centres on molecular diagnostics for Rare Inherited Anaemias. We have developed a next-generation sequencing diagnostic test (approved by UKGTN) which screens simultaneously for mutations in genes causing Congenital Dyserythropoietic Anaemia (CDA), Diamond-Blackfan Anaemia (DBA), Sideroblastic Anaemia, Schwachman-Diamond Syndrome (SBDS), and red cell enzyme and membrane disorders. If no mutations are found on the panel, or if novel mutations previously undescribed are found, we offer the patient the opportunity to join a research study. This may involve whole genome sequencing to look for novel genes causing congenital anaemias. We also work on CDA-1, studying the role of codanin in erythropoiesis.

Scientific publications

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Co-funded by the Health Programme of the European Union.