![Miles Thompson, PhD](https://www.cecentral.com/uploads/faculty/156384-857183660.jpg) |
Biosketch
Miles Thompson completed his Ph.D. in Pharmacology from the University of Toronto in 2003. His thesis presented the analysis that identified the role for mutations of the cysteinyl leukotriene 1 and 2 in genetic forms of atopic asthma world-wide. As a post-doctoral fellow, Miles worked with Dr. David E. Cole, Department of Laboratory Medicine and Pathobiology on the Ontario New Born Screening Program. This work resulted in the identification of the first known Ontario case of the syndrome reported by Mabry et al., (1970), Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits (J Pediatr. 77:74-85) – OMIM 239300. As a result, Miles was able to show that a proportion of these patients respond to pyridoxine (vitamin B6). This case study lead to the publication of Thompson et al., (2010), Hyperphosphatasia with seizures neurologic deficit and characteristic Facial features: five new cases of Mabry syndrome (Am J Med Genetics. 152A:1661-9) – the first publication to use the term Mabry syndrome. As a result of this work, Dr. Thompson was able to forge collaborations in the USA (Pater Robinson), France (Dr. Arnold Munnich), The Netherlands (Dr. Han Brunner) and Germany (Dr. Peter Krawitz) that resulted in the identification of four of the genes causing this recessive glycophosphatidylinositol (GPI) anchor deficiency (PIGV, PIGO, PGAP2 & PGAP3). In total, at least six genes are now known to result in the Mabry syndrome spectrum. While at UCSD in 2018, Miles assisted in the identification of a novel developmental disability resulting from recessive inheritance of PIGS mutations (Am J Hum Genet. 103:602-611). In collaboration with faculty at the University of Kentucky in 2019, Dr. Thompson and Dr. Mabry identified the recessive inheritance of a mutation in the PGAP2 gene in the two surviving members that Dr. Mabry described in 1970. This work, notable in being the first longitudinal follow-up of Mabry syndrome patients, examines the natural history of features of the disorder including hyperphosphatasia (and alterations in the abundance of other GPI-anchor proteins (GPI-AP) as measured by flow-cytometry), developmental disability, bone abnormalities such as brachytelephalangy, seizures and the putative storage material originally identified in biopsy material.
Affiliation
- Assistant Project Scientist
Department of Pediatrics
UCSD School of Medicine
La Jolla, California
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