Research area:

Genetics and Genomics

Host Organisation & country:

University of Rwanda, Rwanda

Summary

Genetic and environmental risk factors causing many cases of neurodevelopmental disorders in Africa are generally unknown. Neurodevelopmental disorders occur when complex genetic and environmental factors combine to change brain development. In children, these disorders are usually characterized by impairment in intellectual functioning, reading ability, social skills, memory, attention or focus skills.

Dr Uwineza’s research will use advanced genetic laboratory technics to identity changes in patients’ DNA associated with neurodevelopmental disorders, autism spectrum disorders and microcephaly.

Grantee Description

Dr Annette Uwineza is a Senior Lecturer in the Department of Clinical Biology at School of Medicine and Pharmacy of the College of Medicine and Pharmacy at the University of Rwanda. She obtained her PhD in Medical Sciences (Human Genetics) from the University of Liege (Belgium) in 2015 and her doctoral work focused on identifying the genetic aetiologies of intellectual disability in Rwandan patients.

Dr Uwineza’s long aspiration is develop and expand genetic testing in Rwanda population to allow affected families getting genetic diagnosis required to get information about long-term needs, and future family planning.

Project: Genomic and Environmental factors of neurodevelopmental disorders in Rwandan Children

The goal of this project is to identify genomic and environmental factors associated with neurodevelopmental disorders by perfoming whole exome sequencing in affected children, genome wide association studies in patients with Autism Spectrum Disorders, then to investigate the infectious and genomic etiology of microcephaly in Rwandan newborns. Our project’s results will alert regional public health stakeholders who may use the information to implement or reinforce existing measures of prevention of microcephaly.

In addition, this project will also allow to develop appropriate assessment tool that suits Rwandan and African system to gather relevant information on various risk factors associated with neurodevelopmental disorders.