Amyotrophic Lateral Sclerosis Inherited Neuromuscular Disorders H3Africa Rare Disease Working Group ClinGen ALS Gene Curation Expert Panel ICGNMD DS-I Africa CReATe Consortium ASBCBio/NIH Codeathon 2025 HiFi Solves EMEA Consortium

Amyotrophic Lateral Sclerosis

  • Nel M*, Agenbag G*, Henning F, Cross HM, Esterhuizen A, Heckmann JM (2019). C9orf72 repeat expansions in South Africans with ALS. Journal of the Neurological Sciences. doi:10.1016/j.jns.2019.04.026. *shared first authorship.

     

  • Nel M, Mavundla T, Gultig K, Botha G, Mulder N, Benatar M, Wuu J, Cooley A, Myers J, Rampersaud E, Wu G, Heckmann JM (2021). Repeat expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans. IBRO Neuroscience Reports. doi: 10.1016/j.ibneur.2021.02.002.

     

  • Nel M, Mahungu AC, Monnakgotla N, Botha G, Mulder N, Wu G, Rampersaud E, van Blitterswijk M, Wuu J, Cooley A, Myers J, Rademakers R, Taylor JP, Benatar M, Heckmann JM (2022). Revealing the mutational spectrum in Southern Africans with Amyotrophic Lateral Sclerosis. Neurology Genetics. doi: 10.1212/NXG.0000000000000654.

     

  • Kinghorn E, Uren C, Möller M, Heckmann J, Swart Y, Nel M (2025). Ancestral origin of amyotrophic lateral sclerosis pathogenic variants in South Africa. Wellcome Open Research. 10.12688/wellcomeopenres.24788.1.

     

  • Heckmann J, Floudiotis N, Makanjuola A, Ogunniyi A, Mochan A, Mongwe R, Sokhi D, Nel M (2025). Motor Neuron Disease in Africa: a critical re-appraisal of the literature. Nature Reviews Neurology. (invited review, submitted).

     

Inherited Neuromuscular Disorders

  • Mahungu AC, Monnakgotla N, Nel M, Heckmann JM (2022). A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans. Orphanet Journal of Rare Diseases. doi: 10.1186/s13023-022-02280-2.

     

  • Mahungu AC, Steyn E, Floudiotis N, Wilson L, Vandrovcova J, Reilly MM, Record CJ, Benatar M, Wu G, Raga S, Wilmshurst JM, Naidu K, Hanna M, Nel M*, Heckmann JM* (2023). The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia. Frontiers in Neurology. doi: 10.3389/fneur.2023.1239725. *shared senior authorship.

     

H3Africa Rare Disease Working Group

  • Lumaka A, Carstens N, Devriendt K, Krause A, Kulohoma B, Kumuthini J, Mubungu G, Mukisa J, Nel M, Olanrewaju TO, Lombard Z, Landouré G (2022). Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group. Orphanet Journal of Rare Diseases. doi: 10.1186/s13023-022-02391-w.

     

Clinical Genome Resource (ClinGen) Amyotrophic Lateral Sclerosis Spectrum Disorders Gene Curation Expert Panel

  • Dilliott A, Al Nasser A, Elnageeb M, Fifita J, Henden L, Keseler I, Lenz S, Marriott H, McCann E, Mesaros M, Opie-Martin S, Owens E, Palus B, Ross J, Wang Z, White H, Al-Chalabi A, Andersen P, Benatar M, Blair I, Cooper-Knock J, Drury L, Harrington E, Heckmann J, Landers J, Moreno C, Nel M, Rampersaud E, Roggenbuck J, Rouleau G, Traynor B, Van Blitterswijk M, Van Rheenen W, Veldink J, Weishaupt J, Harms M, Farhan S (2022). On behalf of the Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel. Clinical testing panels for ALS: global distribution, consistency, and challenges. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. doi: 10.1101/2022.09.27.22280431.

     

International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD)

  • The ICGNMD Consortium (2023). Neuromuscular disease genetics in underrepresented populations: increasing data diversity. Brain. doi: 10.1093/brain/awad254.

     

  • Nagy S, Pagnamenta AT, Cali E, Braakman HMH, Wijntjes J, Kusters B, Gotkine M, Elpeleg O, Meiner V, Lenberg J, Wigby K, Friedman J, Perry LD, Rossor AM, Meszarosova AH, Thomasova D, Jacob S, O'Driscoll M, De Simone L, Grange DK, Sommerville R, Firoozfar Z, Alavi S, Mazaheri M, Parmar JM, Lamont PJ, Pini V, Sarkozy A, Muntoni F, Ravenscroft G, Jones E, O'Rourke D, Nel M, Heckmann JM, Kvalsund M, Kapapa MM, Wa-Somwe S, Bearden DR, Çakar A, Childs A, Horvath R, Reilly MM, Houlden H, Maroofian R (2024). Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations. Brain Communications. doi: 10.1093/braincomms/fcae377.

     

Harnessing Data Science for Health Discovery and Innovation in Africa (DS-I Africa) research grant: Genome-wide characterization of complex variants and their phenotypic effects in African populations

  • Lujumba I, Adam Y, Ziaei JH, Isewon I, Monnakgotla N, Li Y, Onyido B, Fredrick K, Adegoke F, Emmanuel J, Adeyemi J, Ibitoye O, Owusu-Ansah S, Akanle MB, Joseph H, Nsubuga M, Galiwango R, Okitwi M, Magdalene N, Walter O, Mngadi Z, Adebiyi M, Oyelade J, Nel M, Jjingo D, Gymrek M, Adebiyi E (2025). A practical guide to identifying associations between tandem repeats and complex human traits using consensus genotypes from multiple tools. Nature Protocols. doi: 10.1038/s41596-025-01231-y.

     

Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium

  • Wu G, Chen W, Wuu J, Jain A, Myers J, Cordts I, Rampersaud E, Heckmann JM, Nel M, Granit V, Statland J, Swenson A, Ravits J, McMillan CT, Elman L, Caress J, Burns T, Pioro EP, Trivedi J, Katz J, Jackson C, Maiser S, Walk D, So Y, McCauley JL, Baker MC, Taylor JP, Zuchner S, Rademakers R, Van Blitterswijk M, Benatar M (2025). Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases. Translational Neurodegeneration (accepted).

     

African Society for Bioinformatics and Computational Biology/National Institutes of Health Office of Data Science Strategy virtual omics-focused codeathon 2025

  • Coetzer, KC, Zemzem F, Akurut E, GA Wiafe, OI Awe (2025). RareInsight simplifies the communication of genetic results for rare disease patients. Scientific Reports. doi: 10.1186/s13023-022-02280-2.

     

HiFi Solves EMEA Consortium

  • Bart van der Sanden , Christian Betz , Katharina Herzog , Esther Schamschula , Katharina Wimmer , Inga Vater , Saranya Balachandran , Xiao Chen , Jordi Corominas Galbany , Raoul Timmermans , Ronny Derks , HiFi Solves EMEA Consortium , Malte Spielmann , Michael A. Eberle , Christian Gilissen , Lisenka E.L.M.Vissers , Johannes Zschocke , Hanno J. Bolz and Alexander Hoischen (2025). HiFi sequencing accurately identifies clinically relevant variants in paralogous genes. medRxiv. doi: 10.1101/2025.10.29.25339045.