Current status and future directions of amyotrophic lateral sclerosis research in Africa: a perspective

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Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with a global burden. Despite significant strides in ALS research, challenges facing ALS research in Africa are substantial. This paper discusses the current status and future directions of ALS research in Africa. Challenges and opportunities for ALS research in the region are highlighted, including limited funding and resources, the need for collaboration, and capacity building. Emerging technologies in ALS research in Africa are described, including telemedicine, neuroimaging, and genetic studies. Priorities for future ALS research in Africa are identified, including epidemiological studies, developing culturally appropriate diagnostic and management tools, and clinical trials of emerging treatments. Addressing these priorities will be critical to advancing ALS research and improving patient outcomes in Africa.

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Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale … (2015)

The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants. 1 In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next generation sequencing. By adopting and leveraging next generation sequencing, clinical laboratories are now performing an ever increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes and epigenetic assays for genetic disorders. By virtue of increased complexity, this paradigm shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context, the ACMG convened a workgroup in 2013 comprised of representatives from the ACMG, the Association for Molecular Pathology (AMP) and the College of American Pathologists (CAP) to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP and CAP stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories including genotyping, single genes, panels, exomes and genomes. This report recommends the use of specific standard terminology: ‘pathogenic’, ‘likely pathogenic’, ‘uncertain significance’, ‘likely benign’, and ‘benign’ to describe variants identified in Mendelian disorders. Moreover, this recommendation describes a process for classification of variants into these five categories based on criteria using typical types of variant evidence (e.g. population data, computational data, functional data, segregation data, etc.). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a CLIA-approved laboratory with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or equivalent.

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Challenges and Opportunities in Global Mental Health: a Research-to-Practice Perspective.

Milton Wainberg, Pamela Scorza, James Shultz … (2017)

Globally, the majority of those who need mental health care worldwide lack access to high-quality mental health services. Stigma, human resource shortages, fragmented service delivery models, and lack of research capacity for implementation and policy change contribute to the current mental health treatment gap. In this review, we describe how health systems in low- and middle-income countries (LMICs) are addressing the mental health gap and further identify challenges and priority areas for future research.

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A comprehensive review of amyotrophic lateral sclerosis

Sara Zarei, Karen Carr, Luz Gonzalez-Reiley … (2015)

Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disease affecting motor neurons with an incidence of about 1/100,000. Most ALS cases are sporadic, but 5–10% of the cases are familial ALS. Both sporadic and familial ALS (FALS) are associated with degeneration of cortical and spinal motor neurons. The etiology of ALS remains unknown. However, mutations of superoxide dismutase 1 have been known as the most common cause of FALS. In this study, we provide a comprehensive review of ALS. We cover all aspects of the disease including epidemiology, comorbidities, environmental risk factor, molecular mechanism, genetic factors, symptoms, diagnostic, treatment, and even the available supplement and management of ALS. This will provide the reader with an advantage of receiving a broad range of information about the disease.

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Author and article information

Contributors

Nicholas Aderinto

Opeyemi Muili AbdulBasit

Oluwatosin Afolayan

Mubarak Mustapha Jolayemi

Journal

Journal ID (nlm-ta): Ann Med Surg (Lond)

Journal ID (iso-abbrev): Ann Med Surg (Lond)

Journal ID (publisher-id): MS9

Title: Annals of Medicine and Surgery

Publisher: Lippincott Williams & Wilkins (Hagerstown, MD )

ISSN (Electronic): 2049-0801

Publication date Collection: June 2023

Publication date (Electronic): 10 May 2023

Volume: 85

Issue: 6

Pages: 3204-3208

Affiliations

[a ]Department of Medicine and Surgery, Ladoke Akintola University of Technology, Ogbomoso

[b ]Faculty of Basic Medical Sciences, University of Ilorin, Ilorin, Nigeria

Author notes

[* ]Corresponding author. Address: Ladoke Akintola University of Technology Ogbomoso 210252, Nigeria. Tel.: +2348167724987. E-mail address: Nicholasoluwaseyi6@ 123456gmail.com (N. Aderinto).

Article

Publisher ID: AMSU-D-23-00752 Accession ID: 00153

DOI: 10.1097/MS9.0000000000000814

PMC ID: 10289691

SO-VID: 15053320-a698-499b-9a80-7d99f385aa73

License:

This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0/

History

Date received : 4 April 2023

Date accepted : 28 April 2023

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Keywords: africa,amyotrophic lateral sclerosis,neurodegenerative disease,research

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Keywords: africa, amyotrophic lateral sclerosis, neurodegenerative disease, research

Current status and future directions of amyotrophic lateral sclerosis research in Africa: a perspective

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Most cited references 23

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Challenges and Opportunities in Global Mental Health: a Research-to-Practice Perspective.

A comprehensive review of amyotrophic lateral sclerosis

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