A5026960479- Genomics and Rare Diseases
- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Genetics, Bioinformatics, and Biomedical Research
- Mitochondrial Function and Pathology
- Neurological diseases and metabolism
- Genetics and Neurodevelopmental Disorders
- Ion Channels and Receptors
- Glycogen Storage Diseases and Myoclonus
- BRCA gene mutations in cancer
- Epilepsy research and treatment
- Biotechnology and Related Fields
- Neurological disorders and treatments
- Ion channel regulation and function
- Cerebral Venous Sinus Thrombosis
- Muscle Physiology and Disorders
- Amyotrophic Lateral Sclerosis Research
- DNA Repair Mechanisms
- Parkinson's Disease Mechanisms and Treatments
- Pharmaceutical Economics and Policy
- Toxin Mechanisms and Immunotoxins
- Global Health and Surgery
- Cardiomyopathy and Myosin Studies
- RNA Research and Splicing
Université des Sciences, des Techniques et des Technologies de Bamako
2018-2025
University of Bamako
2015-2025
National Institutes of Health
2009-2024
National Institute of Neurological Disorders and Stroke
2012-2024
Mali-Folkecenter
2015-2024
National Research Centre
2020
University College London
2009-2012
National Human Genome Research Institute
2012
Great Ormond Street Hospital
2009
Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, a renal salt-losing tubulopathy normotensive hypokalemic metabolic alkalosis. We investigated the genetic basis of this autosomal recessive disease, which we call EAST syndrome (the presence epilepsy, tubulopathy).
Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date. Recently, dominant mutations in the transient receptor potential vanilloid 4 gene were found be associated with three distinct neuromuscular phenotypes: hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy congenital distal atrophy. Transient encodes cation channel previously implicated several types dominantly inherited bone dysplasia...
We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed homozygous missense variant (c.187G>C; p.Ala63Pro) C19orf12, gene recently implicated neurodegeneration with brain iron accumulation (NBIA). The same mutation was subsequently also found Brazilian family features NBIA, and we identified another NBIA patient three-nucleotide deletion (c.197_199del; p.Gly66del). Haplotype...
The rich and diverse genomics of African populations is significantly underrepresented in reference disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data reaching a diagnostic more difficult Africa for diaspora. It increases chances false positives with variants being misclassified as pathogenic due to their novelty or rarity. We can increase genomic by (1) making consent sharing aggregate frequency an essential component research toolkit; (2)...
Background: There is exponential growth in the interest and implementation of genomics research Africa. This has been facilitated by Human Hereditary Health Africa (H3Africa) initiative, which aims to promote a contemporary approach study environmental determinants common diseases African populations.Objective: The purpose this article describe important challenges affecting Africa.Methods: observations, recommendations presented were obtained through discussions scientists at...
Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the low- medium-income ones. Hence, undiagnosed RD (URD) account for significant portion burden.In October 2020, Developing Nations Working Group Undiagnosed Diseases Network International (DNWG-UDNI) launched survey among its members, belonging 20 countries across...
Abstract Background Our recent studies have shown headache disorders to be very common in the central and western sub-Saharan countries of Benin Cameroon. Here we report nearby Mali, a strife-torn country that differs topographically, culturally, politically economically. The purposes were estimate headache-attributed burden need for care. Methods We used cluster-random sampling seven Mali’s eleven regions obtain nationally representative sample. During unannounced household visits by...
Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features lack clear diagnostic label. Although the Diseases Network International (UDNI) definition of URDs is not universally accepted, it widely recognized. We surveyed UDNI members participants from other countries to explore challenges posed by identify possible solutions. Participation survey was completely voluntary. The...
Background Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there currently up 9,000 different that have been recognized, new discovered every month. Although very few people affected each uncommon disease individually, millions of thought be globally when these conditions considered. Therefore, RDs represent an important public health concern. crucial for clinical care, early...
Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases infancy and early childhood in North America, Europe, Asia. SMA usually caused by deletions survival motor neuron 1 (SMN1) gene. A closely related gene, SMN2, modifies disease severity. carriers have only copy SMN1 are relatively (1 30-50) populations European Asian descent. SMN numbers carrier frequencies not been reliably estimated Malians other sub-Saharan Africans.We used a quantitative polymerase chain...
Key Clinical Message Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case Mali, caused by novel de novo variant RUNX2 gene. Abstract autosomal dominant characterized an aplastic/hypoplastic clavicles, patent sutures fontanels, dental abnormalities variety of other changes. gene causing severe phenotype CCD Malian girl.
Mutations in over 50 genes have been associated with Charcot-Marie-Tooth (CMT) disease. As new continue to be discovered, the task of sequencing each them individually traditional techniques becomes increasingly burdensome. In addition, these approaches disadvantages that may
Abstract Sickle cell disease (SCD) is one of the most common monogenic diseases in humans with multiple phenotypic expressions that can manifest as both acute and chronic complications. Although described more than a century ago, challenges comprehensive management collaborative research on this are compounded by complex molecular clinical phenotypes SCD, environmental psychosocial factors, limited therapeutic options ambiguous terminology. This terminology has hampered integration...
A recurring concern in genomics research is the possibility that it could lead to stigma for participants, their families and population groups they belong to. Little evidence exists explain how when this ought be a Africa whilst there growing international drawing into question direct link between genetics. In paper, we interrogate practical instances from African where was identified as an attempt nuance refine accounts of should considered ethical issue. The paper describes examples...
Sporadic thyrotoxic periodic paralysis (TPP) is a rare muscle disorder that manifests with abrupt weakness and hypokalemia associated hyperthyroidism. It mostly reported in the Asian population, Caucasians. Only few cases have been people black ancestry. Here, we report case of revealing Graves' disease young Malian. A 17-year-old man was admitted Neurology clinic rapid proximal tetraplegia started after strenuous physical activities at school. Clinical examination confirmed weakness. In...
We sought to identify a causative mutation in previously reported kindred with parental consanguinity and 5 of 10 siblings adult-onset autoimmune myasthenia gravis.We performed genome-wide homozygosity mapping, sequenced all known genes the one region extended homozygosity. Quantitative allele-specific reverse transcriptase PCR (RT-PCR) were on candidate gene determine RNA expression level affected controls relative abundance wild-type mutant alleles heterozygote.A shared at chromosome...
Abstract Hereditary spastic paraplegias ( HSP s) are well‐characterized disorders but rarely reported in Africa. We evaluated a Malian family which three individuals had and distal muscle atrophy sensory loss. panel testing identified novel heterozygous missense mutation KIF 5A (c.1086G>C, p.Lys362Asn) that segregated with the disease SPG 10). Lys362 is highly conserved across species Lys362Asn predicted to be damaging. This study shows s present sub‐Saharan Africa, although likely...