Aizeddin A Mhanni
Aizeddin A Mhanni is an expert in Genetics at Children's Hospital Research Institute of Manitoba (Canada). Aizeddin A Mhanni has authored 71 publications, the most recent in 2025. SLR score: 164 (community average: 125). How the SLR is computed.
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Genetics
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Short Biography
A. Mhanni, MD, FRCPC, FCCMG, FACMG, PhD
Dr. Aizeddin (Aziz) Mhanni is a Professor in the Department of Pediatrics and Child Health, and the Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, and a Clinician Scientist at the Children’s Hospital Research Institute of Manitoba (CHRIM).
He is a Fellow of the Royal College of Physicians and Surgeons of Canada (FRCPC), the Canadian College of Medical Geneticists and Genomics (FCCMG), and the American College of Medical Genetics and Genomics (FACMG).
Dr. Mhanni is a nationally recognized physician-scientist and Medical Geneticist whose clinical and academic work is focused on advancing the diagnosis, understanding, and treatment of inborn errors of metabolism and other rare genetic disorders. His research program bridges clinical medicine, genomics, and translational science, with a particular emphasis on bringing advances in genetic and metabolic medicine from the bedside, to the laboratory, and back to the bedside and ultimately improving outcomes for children and families affected by rare disease.
A central focus of Dr. Mhanni’s academic and clinical leadership is advancing equitable and culturally responsive genomic and metabolic health care for underrepresented and underserved populations, including Indigenous communities. Through sustained clinical, research, and collaborative initiatives, he has contributed to improving the recognition and diagnosis of inherited metabolic disorders in populations that have historically been underrepresented in genomic medicine and to developing innovative models of care that address geographic, systemic, and health-equity barriers. His work seeks not only to identify disease, but to translate genomic knowledge into meaningful improvements in prevention, diagnosis, treatment, and long-term health outcomes.
Dr. Mhanni has also contributed internationally to the development of medical genetics and metabolic medicine. During an academic leave in the United Arab Emirates in 2018–2019, he worked with local colleagues and health-care institutions to advance approaches to the diagnosis and management of inherited metabolic and genetic disorders and to support the development of specialty education and training programs.
His leadership extends beyond his institutional roles to the national metabolic medicine community. Dr. Mhanni currently serves as President of the Canadian Association of Centers for the Management of Hereditary Metabolic Diseases (the Garrod Association), where he provides national leadership in advancing standards of care, collaboration, education, and innovation in the management of inherited metabolic diseases across Canada.
Through his clinical practice, research, education, and leadership, Dr. Mhanni is committed to building the next generation of precision medicine for rare disease, integrating clinical expertise, genomics, metabolic science, and health-system innovation to deliver more timely, equitable, and effective care for patients and families.
Organizations
Career arc: 1998 - 2026
Number : 71
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Latest Publications
5 most recent indexed articles
Source: Pubmed
| Title | Journal | Year | Citations |
|---|---|---|---|
| Correspondence on "Mainstreaming of clinical genetic testing: a conceptual framework" by Mackley et al. PMID 41143754 — research design, genetic testing, mainstreaming, education | Genet Med | 2025 | 0 |
| Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study. PMID 40901071 — blood, mixed function oxygenases, cohort studies, phenylalanine, metabolism, inborn errors, phenylalanine hydroxylase, diagnosis, therapeutics, phenylketonurias, child | JIMD Rep | 2025 | 0 |
| Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report. PMID 40458561 — genes, dementia, phenotype, alpha-thalassemia, cognitive dysfunction, thalassemia, chromosomes | Front Genet | 2025 | 0 |
| Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement. PMID 39443985 — research design, mucopolysaccharidoses, growth, rare diseases, drug-related side effects and adverse reactions, growth and development, child | Orphanet J Rare Dis | 2024 | 1 |
| A novel variant associated with isolated congenital cataracts. PMID 36781206 — genes, genomics, muscles, phenotype, muscle weakness, metabolomics, cataract | Cold Spring Harb Mol Case Stud | 2023 | 2 |
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