EDUCATION

Undergraduate Degree

  • Dalhousie University , 1999 , Halifax, Novia Scotia , Canada

Graduate Degree

  • Dalhousie University , 2001 , Halifax, Nova Scotia , Canada

Medical School

  • Dalhousie University , 2005 , Halifax, Nova Scotia , Canada

Residency

  • University of Ottawa, Children's Hospital of Eastern Ontario , 2010 , Ottawa, Ontario , Canada

Fellowship

  • University of Toronto, Hospital for Sick Children , 2012 , Toronto, Ontario , Canada

PROFESSIONAL HISTORY

Dr. Al-Hertani is a Clinical Geneticist and a Medical Biochemical Geneticist with expertise and interest in inborn errors of metabolism (IEMs) and targeted therapeutics for these IEMs. Following a five-year residency in Clinical Genetics at the University of Ottawa in Ottawa, Canada and a two-year Medical Biochemical Genetics fellowship at the University of Toronto and the Hospital for Sick Children (SickKids) in Toronto, Canada, she joined the Faculty at McGill University and the Montreal Children’s Hospital in 2012 as an Assistant Professor and an Attending in Genetics and Metabolism, following both Pediatric and Adult patients. Subsequently. in 2014, she accepted a position at the Faculty at Cummings School of Medicine, University of Calgary and the Alberta Children's Hospital with a clinical focus on neurometabolic disorders. Dr. Al-Hertani is now an Attending in Genetics and Metabolism at the Boston Children's Hospital and is the Director of the Boston Children's Hospital Lysosomal Storage disease (BoLD) program.

PUBLICATIONS

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  1. Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data. Am J Hematol. 2021 Feb 19. View abstract
  2. Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. Can J Neurol Sci. 2019 11; 46(6):717-726. View abstract
  3. Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation. JIMD Rep. 2019 Sep; 49(1):21-29. View abstract
  4. Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum. Mol Genet Metab Rep. 2019 Sep; 20:100483. View abstract
  5. D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene. Mol Genet Metab Rep. 2019 Sep; 20:100482. View abstract
  6. Infantile Presentation of Leber Hereditary Optic Neuropathy "Plus" Disease. J Neuroophthalmol. 2019 06; 39(2):249-252. View abstract
  7. Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease. Mol Genet Metab Rep. 2019 Sep; 20:100476. View abstract
  8. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. Am J Hum Genet. 2019 05 02; 104(5):815-834. View abstract
  9. An Unusual Case of Infantile Spasms Due to a Pathogenic Variant in the MECP2 Gene. J Pediatr Neurol. 2019. View abstract
  10. Identification of a de novo case of COL5A1-related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care. Clin Case Rep. 2018 Nov; 6(11):2256-2261. View abstract
  11. Engagement of Canadian Patients with Rare Diseases and Their Families in the Lifecycle of Therapy: A Qualitative Study. Patient. 2018 06; 11(3):353-359. View abstract
  12. A checklist for managed access programmes for reimbursement co-designed by Canadian patients and caregivers. Health Expect. 2018 12; 21(6):973-980. View abstract
  13. Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review. Orphanet J Rare Dis. 2017 12 22; 12(1):188. View abstract
  14. ALG9-CDG: New clinical case and review of the literature. Mol Genet Metab Rep. 2017 Dec; 13:55-63. View abstract
  15. Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment. JIMD Rep. 2018; 39:89-96. View abstract
  16. Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency. J Med Genet. 2017 04; 54(4):241-247. View abstract
  17. Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Orphanet J Rare Dis. 2016 Jan 25; 11:8. View abstract
  18. Supernumerary Carpal Bones in Larsen Syndrome: A Review of the Literature and Case Study. Plastic Surgery Case Studies. 2015. View abstract
  19. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):35-43. View abstract
  20. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. JIMD Rep. 2014; 15:1-11. View abstract
  21. Severe craniosynostosis in an infant with deletion 22q11.2 syndrome. . 2013 Jan; 161A(1):153-7. View abstract
  22. Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism. . 2012 Jun; 158A(6):1452-4. View abstract
  23. Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication. . 2011 Apr; 155A(4):885-91. View abstract
  24. Human newborn polymorphonuclear neutrophils exhibit decreased levels of MyD88 and attenuated p38 phosphorylation in response to lipopolysaccharide. Clin Invest Med. 2007; 30(2):E44-53. View abstract
  25. The emergency department as an asthma surveillance tool at the community level: a decline in the burden of pediatric asthma in halifax, Canada. J Asthma. 2005 Oct; 42(8):679-82. View abstract
  26. Role of MyD88 in diminished tumor necrosis factor alpha production by newborn mononuclear cells in response to lipopolysaccharide. Infect Immun. 2004 Mar; 72(3):1223-9. View abstract
  27. Lipopolysaccharide-binding protein- and CD14-dependent activation of mitogen-activated protein kinase p38 by lipopolysaccharide in human neutrophils is associated with priming of respiratory burst. Infect Immun. 2002 Aug; 70(8):4068-74. View abstract
  28. The effect of partial vs. full hydroxyapatite coating on periprosthetic bone quality around the canine madreporic femoral stem. J Biomed Mater Res. 2000 Sep; 53(5):518-24. View abstract