Congenital and Genetic Disorders Research

Human genetic and genomic research is a diverse and rapidly evolving field. Rare genetic disorders are understudied in Kenya; a diagnosis of rare genetic disorders in families offers relief as it brings to an end a diagnosis odyssey and better understanding of the condition. Precision medicine offers individuals improved outcomes through personalized treatment and management; research in precision medicine employing genomic analysis uses next generation sequencing in predictive diagnosis of non-communicable diseases that have a genetic predisposition.

Mortality rates from infectious diseases such as malaria remain high in sub-Saharan Africa and are becoming an increasing challenge with a rise in pathogen resistance to current therapies. Finding new approaches for combating these diseases is therefore critically important. Investigating the genetic determinants of variation in disease susceptibility is one way to uncover new pathways underlying disease pathogenesis, thereby informing novel therapies.

Learn about the Human Genetics and Genomics Society of Kenya https://hgg.or.ke/

Project Title

Characterization of Haplotypes Representing the diversity of Kenyan Population for the development of full mitochondrial Genome Reference Database
Mapping the HLA Diversity for the Kenyan Population Using Next Generation Sequencing Approaches for Donor Repository
Genetic architecture of epilepsy and psychotic disorders
Evaluating the impact of the Dantu blood group variant on malaria and bacteraemia in Kenyan children
Investigating the mechanisms that support the protective effect of Dantu blood group variant
Genetic epidemiology and management of sickle cell disease
Clinical trials of treatments in sickle cell disease
A Case-Control Genetic (Open Array Genotyping and Whole Exome Sequence) analysis of pre-eclamptic and normotensive pregnancies in women in Kenya.
A Pilot study in pre-eclamptic cohort design and genomic analysis workflow.
  1. Charting a landmark-driven path forward for population genetics and ancient DNA research in Africa,” The American Journal of Human Genetics. 2024 Jul 11;111(7):1243-1251. doi: 10.1016/j.ajhg.2024.05.019.
  2. Relation between the Dantu blood group variant and bacteraemia in Kenyan children: a population-based case control study. J Infect Dis. 2024 Jul 9:jiae339. doi: 10.1093/infdis/jiae339. Epub ahead of print. PMID: 38979599.
  3. Dantu Blood Group Erythrocytes Form Large Plasmodium falciparum Rosettes Less Commonly. Am J Trop Med Hyg. Epub Jan 30:tpmd230347. doi: 10.4269/ajtmh.23-0347.
  4. The Dantu blood group prevents parasite growth in vivo: Evidence from a controlled human malaria infection study. Elife 2023; 12:e83874. doi: 10.7554/eLife.83874. Pubmed PMID: 37310872.
  5. Non-O ABO blood group genotypes differ in their associations with Plasmodium falciparum rosetting and severe malaria. PLoS Genet 2023 Sep 14;19(9):e1010910. doi:10.1371/journal.pgen.1010910
  6. Substantial misdiagnosis of severe malaria in African children. 2022 Sep 10;400(10355):807. doi: 10.1016/S0140-6736(22)01600-2
  7. Sickle cell anaemia and severe Plasmodium falciparum malaria: a secondary analysis of the Transfusion and Treatment of African Children Trial (TRACT). Lancet Child Adolesc Health 2022;6:606-13. doi: 10.1016/S2352-4642(22)00153-5.
  8. Improving the diagnosis of severe malaria in African children using platelet counts and plasma PfHRP2 concentrations. Sci Transl Med. 2022 Jul 20;14(654):eabn5040. doi: 10.1126/scitranslmed.abn5040
  9. Prevalence of all epilepsies in urban informal settlements in Nairobi, Kenya: a two-stage population-based studyLancet Glob Health. 2024 Aug;12(8):e1323-e1330. doi: 10.1016/S2214-109X(24)00217-1.
  10. Neurological impairment and disability in children in rural Kenya. Dev Med Child Neurol 2022 Mar;64(3):347-356. doi: 10.1111/dmcn.15059.
  11. Measuring psychological distress using the K10 in Kenya. J Affect Disorder2022 Apr 15:303:155-160. doi: 10.1016/j.jad.2022.02.012.
  12. Validation of the Fatty Liver Index for identifying non-alcoholic fatty liver disease in a Kenyan population. Journal of Tropical Medicine and International Health2023; 1-9. org/10.1111/tmi.13927

Dr. Sophie Uyoga

Congenital and Genetic Diseases Group lead


Sophie is a Principal Research Scientist at the Centre for Geographic Medicine Research, Coast (CGMRC). She trained as a biochemist then specialized in immunology and later obtained a PhD in severe malaria epidemiology from the University of Heidelberg.

She has great interest in understanding the development and management of anemia in the African setting. Another area of interest is the epidemiology of sickle cell anemia (SCA) that is quite prevalent in the Coastal and Western counties of Kenya. Her research over the last 20 years has shown how management of the disease through regular check-ups and prevention of illnesses through prophylaxis and vaccination in their childhood enables individuals living with sickle cell anemia to have better survival rates.

Blood transfusion is one of the key management strategies for management of anemia and acute crises in people living with sickle cell anemia. Her current research focuses on understanding the transfusion needs of children with sickle cell anemia (SCA) and the need for better transfusion strategies to prevent the development of alloimmunization.

Dr. Lydia Kaduka


Dr. Kaduka is a Principal Research Scientist at the Centre for Public Health Research, Kenya Medical Research Institute. Her formal doctoral training is in Medical Biochemistry, and she pursued post-doctoral training in Healthcare Management. Her work has largely focused on cardiovascular diseases and health systems research, and has published widely on inequalities in health, nutrition and cardiovascular epidemiology. She has served as PI/Co-PI/Co-investigator on numerous projects, and led research teams, mentored young investigators, and provided scientific direction in her line of work.

She has contributed to policy and practice development. She serves on various global and national committees such as the UK NIHR Global Health Research Groups Committee, the Kenya National CVD Technical Working Group, the Kenya Commission for University Education Review Panel and various advisory boards. She is the immediate Chair of the Kenya MOH CVD research, monitoring and evaluation committee. She has contributed to the development of various policies including the Kenya National Research for Health Framework 2030, the Kenya National NCD strategic plan 2025/26 and the Kenya National Guidelines for the Management of cardiovascular diseases 2024.

Dr. Symon Kariuki


Symon is based at the Centre for Geographic Medicine Research, Coast (CGMRC). He is a brain and mental health researcher with an interest in the epidemiology of these disorders including underlying genetic architecture. He led a multisite study that sought to examine the underlying genetic causes of psychotic disorders across multiple countries. He qualified from the University of Nairobi, followed by postdoctoral trainings in Kings College London and university of Oxford. He chairs the national epilepsy committee, and Research advocacy taskforce of the international league against epilepsy (ILAE). He has published widely in peer review journals and his work can be found in https://www.researchgate.net/profile/Symon-Kariuki

Prof. Wallace Bulimo


Professor Wallace Dimbuson Bulimo is a distinguished Kenyan molecular virologist and epidemiologist currently serving as the Principal Research Scientist at the Centre for Virus Research and Deputy Director of the Department of Epidemiology, Statistics, and Informatics at the Kenya Medical Research Institute (KEMRI). Prof. Bulimo has a diverse educational background, holding a B.Sc. in Biochemistry/Chemistry and an M.Sc. in Biochemistry from the University of Nairobi, followed by a Ph.D. in Molecular Virology from the University of Hertfordshire, UK. He completed his postdoctoral training in Immunopathology at the Institute for Animal Health, Compton, Berkshire, UK.

Throughout his career, Prof. Bulimo has made significant contributions to virology, particularly in the surveillance and research of acute respiratory infections. He has established and coordinated extensive surveillance networks across East and Central Africa and led numerous groundbreaking research projects in collaboration with international organizations, including the U.S. Army Medical Research Directorate and the CDC.

His expertise spans a wide range of fields, including molecular mechanisms of immunity, bioinformatics, synthetic biology, biodefense, and vaccine research. He has pioneered several initiatives in biodefense and biorisk management, contributing to the development of Kenya’s national biorisk management curriculum. Additionally, Prof. Bulimo has supervised numerous graduate students, shaping the next generation of researchers in molecular biology, virology, and epidemiology.

Prof. Bulimo’s leadership roles extend to his efforts in developing the Doctor of Philosophy (PhD) program in Population Health Biosurveillance and Epidemiology at KEMRI and the Department of Epidemiology Statistics and Informatics (DESI). His work has been recognized both locally and internationally, notably receiving KEMRI’s Global Excellence Award in Medical Research in 2020.

His contributions have led to numerous publications in peer-reviewed journals, and he remains actively involved in shaping the future of health research through his participation in various scientific committees and as a key advisor in epidemiology and bioinformatics. Prof. Bulimo continues to be a key figure in both national and international health research, driving innovation in the fight against infectious diseases.

Eva Aluvaala


Eva Aluvaala studied Molecular Biology and Biochemistry at the University of Nairobi completed her Bachelor’s degree in 2005 and MSc in 2011. She is currently completing her PhD thesis. She has worked in the Forensic Genetics industry for 14 years, 2 years in a private forensic laboratory Biotech Forensics and 12 Years in KEMRI, where she established the Human Identification lab that has since become a leading laboratory in the provision of DNA testing services in the country.

She has experience in Disaster victim identification; notably she led the lab team in the identification of fallen soldiers following the El-Ade attack in Somali in 2016 and most recently the hillside Endarasha fire tragedy. She is an experienced trainer and has developed training curriculum on Forensic serology and DNA testing as well as Next Generation Sequencing. She has provided consultancy services for the establishment of 2 government laboratories the, Department of Criminal Investigations(DCI) in Kenya and the bureau of forensics in Puntland.

Eva is also keen on human genetics and genomics research. She is currently developing a human mitogenome reference database for the Kenyan population; the database is inclusive of all ethnolinguistic groups from the diverse geographical regions. From this research she has gained vast experience in human population genetics and would like to continue to play a role in generating genomic data for the African population that will ultimately bridge disparities in health care provision, particularly in precision medicine.

She is a founder member and the Chair of the Human Genetics and Genomics Society of Kenya, a non-profit organization that is dedicated to advancing the understanding of human genetics and genomics.

Dr. Silvia Kariuki


Silvia Kariuki is a senior research scientist in the Genetic Epidemiology Group at the Centre for Geographic Medicine Research, Coast (CGMRC). She is broadly interested in the genetic architecture of complex traits, specifically identifying genetic factors associated with disease susceptibility. Her doctoral thesis work at the University of Chicago involved endophenotype mapping to identify novel genetic polymorphisms associated with complex traits such as systemic lupus erythematosus (SLE) and vitamin D response in the immune system.

Silvia’s research work at the CGMRC involves functional validation of host genetic variants that confer substantial protection against severe malaria. She has specifically focused on the functional validation of the Dantu blood group variant, a rare complex structural genetic variant in the glycophorin gene cluster that confers strongly protective effects against severe malaria. Recent in vitro studies showed that the Dantu variant confers its protective effects against Plasmodium falciparum parasite invasion by impacting red blood cell membrane tension, establishing a clear link between red blood cell membrane tension and P. falciparum invasion efficiency. This protective effect was also demonstrated in vivo, where Dantu protects against early, non-clinical malaria infections in a controlled human malaria infection study. She has also shown that Dantu also confers its protective effect by impacting pathological host-parasite adhesion interactions, where it impairs rosetting, the binding of uninfected red blood cells to P. falciparum-infected red blood cells, due to altered expression of rosetting receptors and reduced mean corpuscular volume (MCV) in Dantu red blood cells.

Dr. Lucy Chite


Dr. Lucy Chite is a Clinical Research Scientist at KEMRI Headquarters, Centre for Clinical Research. She completed her bachelor’s in pharmacy in 2015 and is currently a second-year student at KEMRI Graduate School pursuing an MSc in Molecular Medicine.

Pharmacoepidemiology, Bioinformatics and pharmacogenomics are at the core of precision medicine, hence her enthusiasm to get on board early enough. She is working on a biomarker protocol using next generation sequencing; A Case-Control Genetic (Open Array Genotyping and Whole Exome Sequence -WES) analysis of pre-eclamptic and normotensive pregnancies in women in Kenya. A Pilot study in pre-eclamptic cohort design and genomic analysis workflow. Results from this project will go along away in enhancing predictive diagnosis of pre-eclampsia in women who are considered high risk.

Additionally, she also plays a role in the implementation of pre-clinical and clinical research projects, pharmacy care, treatment, and provision of specialized care for study participants, assisting in carrying out fieldwork and carrying out pre-clinical and clinical experimental procedures, providing pharmacy services and corporate social responsibilities.