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Dr Rosemary Ekong
Darwin Building
Gower Street
Tel: 020 7679 4398
  • Senior Research Fellow
  • Genetics, Evolution & Environment
  • Div of Biosciences
  • Faculty of Life Sciences

Prior to leading the global Tuberous Sclerosis Complex (TSC) Variation Databases I held post-doctoral and Senior Research positions at Brunel University and UCL. My research has involved generating resources for human genome mapping, developing DNA mapping techniques, identifying human genes and human genetic variations in health and disease.

I worked on the positional cloning of the TSC1 gene in Professor Sue Povey’s group at the MRC Human Biochemical Genetics Unit (1994-2000) and was involved in the international consortium that identified the TSC1 gene. Together with colleagues in Paris, I developed the molecular combing technique (Science. 1997. 277:1518-23) which aided contig orientation and determination of chromosomal rearrangements. I also developed a genomic microarray (Hum Mutat. 2004. 24:76-85) which led to my evaluation of the genomic microarray for the North East Thames Regional Cytogenetics Service (now North East Thames Regional Genetics Service) based at Great Ormond Street Hospital, and its subsequent integration into their service at the time.

I undertook secondments with HUGO Gene Nomenclature Committee (2007) and then, as Research Manager of The Centre for Genetic Anthropology (2007-2012). I oversaw projects on drug metabolising enzymes, the Cytochrome P450 (CYP) genes, in defined ethnic populations, to discover genetic differences and investigate the relevance of such genetic differences to drug treatment. I also oversaw work in Ethiopia that contributed to the generation of the African Genome (Nature. 2015. 517: 327–332) and instructed collaborators on the establishment of a biobank in Addis Ababa.

Through my work on human genetic variations, gene databases and ethical sharing of variant data, I chaired an international working group of the Human Variome Project and produced practical guidelines for database curators to aid ethical data management (Ekong and Vihinen, Hum Mutat. 2019. 40:1634-1640). I serve on various councils and committees concerned with standards for documenting and sharing human genetic data, including the HVP Gene/Disease Specific Database Advisory Council, the Human Genome Variation Society (HGVS) Council, and the Global Variome Oversight Committee for databases. I am also a Senior Editor of Annals of Human Genetics.

Research Themes
Research Summary

Research background: Human Molecular and Population Genetics

Recent research - Tuberous Sclerosis Complex (TSC), where I now lead the TSC Variation Database project, and focus on genomic and genetic variation in human disease phenotypes. TSC affects in 1:10,000 people, and the increasing size of the benign tumours in many organs (e.g. heart, kidneys, lungs, skin, brain, eyes) causes significant health problems such as intractable epilepsy, severe learning disability, cardiac arrhythmia, skin lesions, kidney and lung damage. I was part of an international consortium that identified the TSC1 gene (van Slegtenhorst et al. Science. 1997. 277(5327):805-8)

The serious health problems caused by TSC, and variability in severity of the disease phenotype, made it necessary to distinguish disease-causing variants from variants that do not cause disease.

I started curating the TSC1 and TSC2 Variation Databases (www.lovd.nl/TSC1 and www.lovd.nl/TSC2) in 2005 with Professor Povey. As at 31 December 2018, there were >11,000 variant records in both databases, representing >4,000 different variants from TSC1 and TSC2, collated from all over the world. These global databases, which attempt to record and classify all known variants identified in the two TSC genes, are invaluable to diagnostic labs and clinicians in patient-related matters, as well as researchers in addressing clinical and basic science questions. Information gained from collating variants into one resource gave new insights previously undocumented about the TSC2 gene (Ekong et al, Hum Mutat. 2016. 37:364-70). Classification of TSC variants by functional assessment (Hoogeveen-Westerveld et al, 2013. Hum Mutat. 34:167-75) is in collaboration with Dr. Mark Nellist (Erasmus MC, Rotterdam).

Other research interest is on the genetics of Sickle Cell Disease in Nigeria, and is in collaboration with Professor Obiageli Nnodu (University of Abuja)

Teaching Summary

 Research lecture on the BSc BIOL1005: Introduction to Genetics course

Academic Background
1991 PhD Doctor of Philosophy – Medical Parasitology London School of Hygiene and Tropical Medicine
1984 MSc Master of Science – Medical Parasitology London School of Hygiene and Tropical Medicine
1982 BSc Hons Bachelor of Science (Honours) – Zoology and Parasitology University of Calabar
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