Patrick Frosk

Patrick-Frosk

Working Group Member

Associate Professor, Pediatrics and Child Health, Biochemistry, and Medical Genetics, Director of Medical Genetics and Genomic Residency Program, University of Manitoba

Clinical Geneticist, Investigator, Children's Hospital Research Institute of Manitoba


NMD4C Involvement: Pillar 3: Clinical Practice Research

Research Interests: Rare monogenic disease, Genetic mapping / gene identification in founder populations, Genomics

ORCiD profile

Biography

Dr. Frosk is a clinician scientist at the University of Manitoba in Canada, whose clinical practice includes a wide range of general and metabolic genetics with particular focus on neuromuscular and neurodegenerative diseases. Dr. Frosk’s research is directed at identification of novel disease genes and finding ways to better utilize next generation sequencing in clinical practice. In addition to research, Dr. Frosk is heavily involved in post-graduate medical education.


Recent Publications

Krutish, A, Kukurudz-Gorowski, R, Borlot, F, Frosk, P, Rockman-Greenberg, C, Mhanni, AA et al.. Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report. Front Genet. 2025.16 1595298 PMID:40458561

Mackley, MP, Richer, J, Guerin, A, Caluseriu, O, Armstrong, L, Blood, KA et al.. Mainstreaming of clinical genetic testing: a conceptual framework. Genet Med. 2025. 101465 PMID:40417744

Ferreira, EO, Del Bigio, MR, Morin, J, Frosk, P. Infant With a Severe Form of GLRX5-Related Atypical Hyperglycinemia Exhibiting Novel Cardiac and Neurologic Disease Manifestations at Autopsy. Pediatr Dev Pathol. 2025. 10935266251335065 PMID:40415601

Boullé, M, Leleu, A, Schacre, S, Banal, C, Boucharlat, A, Renault, S et al.. Generation of IPi002-A/B/C human induced pluripotent stem cell lines from MARCH amniotic fluid cells. Stem Cell Res. 2024.81 103589 PMID:39447316

Le Voyer, T, Maglorius Renkilaraj, MRL, Moriya, K, Pérez Lorenzo, M, Nguyen, T, Gao, L et al.. Inherited human RelB deficiency impairs innate and adaptive immunity to infection. Proc Natl Acad Sci U S A. 2024.121 (37)e2321794121 PMID:39231201

Zaki, N, Miller, NJ, Frosk, P, Sharma, A. [Not Available]. CMAJ. 2024.196 (14)E501-E505 PMID:38621774

Zaki, N, Miller, NJ, Frosk, P, Sharma, A. Hereditary transthyretin amyloidosis presenting with carpal tunnel syndrome. CMAJ. 2024.196 (3)E95-E99 PMID:38286493

de Kock, L, Cuillerier, A, Gillespie, M, Couse, M, Hartley, T, Mears, W et al.. Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach. Am J Med Genet A. 2024.194 (3)e63466 PMID:37949664

Le Voyer, T, Parent, AV, Liu, X, Cederholm, A, Gervais, A, Rosain, J et al.. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency. Nature. 2023.623 (7988)803-813 PMID:37938781

Sleiman, S, Marshall, AE, Dong, X, Mhanni, A, Alidou-D'Anjou, I, Frosk, P et al.. Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. Hum Mol Genet. 2022.31 (4)614-624 PMID:34542157

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