Melissa Nel, MBChB, PhD
Melissa Nel, MBChB, PhD, is a senior lecturer and group leader of the Neurogenomics Lab at the University of Cape Town (UCT)’s Neuroscience Institute. Although ALS occurs in Africa, there is limited genetic data on African ALS subjects. To address this gap in scientific knowledge, Dr. Nel received a CReATe Scholars award (2019-2020) to fund her research project investigating the genetic basis of ALS in Africans using whole genome sequencing in partnership with Prof J Heckmann from UCT Neurology, a member of the CReATe Consortium. Her ALS sample is representative of present day South African ancestry groups (indigenous black Africans and admixed individuals with ancient Khoisan, European and South-East Asian ancestral origins) who are genetically distinct from the East and West African black samples in public databases such as the 1000 Genomes Project. Dr Nel’s research uncovered an overall lower frequency of pathogenic ALS variants in Black South Africans, despite an earlier age of disease onset in this group compared to European ALS cases. Dr Nel is currently funded by a Wellcome Trust Career Development award (2023-2031) where she proposes to employ long-read whole genome sequencing technology to harness the diversity of African genomes to drive novel disease gene and pathway discovery for ALS spectrum disorders. Her collaborators include the ALSAfrica-Network (led by Prof J Heckmann), the Computational Biology Division and RefGraph Project at UCT (led by Prof N Mulder) and Prof. Van Blitterswijk who leads the Genomics of ALS and Integrative Analytics Laboratory at Mayo Clinic.
Relevant publications:
Nel M et al. (2022). Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.