Human Genetics Research

From the inception of the Division of Human Genetics under the leadership of Prof Trefor Jenkins, there has been a strong focus on understanding the genetic underpinnings of Mendelian disorders (i.e. disorders displaying a Mendelian mode of inheritance) in African populations. The Division therefore has vast experience in this field, and it underpins the services (both clinical and diagnostic) that are offered.

Our research and development team has the important task of keeping abreast of the fast-paced field of genetic diagnostics and investigating new technologies that can improve the service the Division delivers. There is currently a significant testing rejuvenation drive, to facilitate the move of historical testing strategies over to next-generation technology.

African populations form the nexus of all our research. To best serve the patients in our clinics and to contextualize genomics research findings, it is essential to fully understand the extent of genomic variation (both pathogenic and normal) in African populations. The Division has a long history of expertise in population genetics, and this interest will continue with a particular focus relevant to disease and diagnostics.

A strong focus on childhood health and morbidity has emerged in parallel to our specialization in Mendelian genomics, which tend to have an early onset in life. In addition to this, a new niche area of research into the role of the microbiome in child development is being developed within the Division, with key aspects of expertise (specifically molecular techniques and bioinformatics analysis) already becoming established.