Heather Howley

Director, Precision Health Analytics

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Heather is the Director of Precision Health Analytics, working with the Lochmüller and Boycott Labs to expand their research programs. She collaborated with Hanns to establish his research program in Canada, securing $6M in funding within his first year in Ottawa and $8M since 2018. She continues to advise these teams on funding avenues and research synergies, and collaborates their teams to improve grantsmanship, secure funding, and publish high-impact manuscripts.

Heather completed her Masters in cellular and molecular medicine at the University of Ottawa, and additional graduate training in laboratory science, epidemiology, and biostatistics. She is a health research professional specializing in academic writing and research development, with 25 years of experience spanning laboratory, clinical, and policy settings. She has been with CHEO Research Institute since 2016, most recently as the Manager of Research Development for the Office of Research Services. There she collaborated with scientists across the Institute to secure more than $45M in grant funding and donor proposals.

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Recent publications

Dulude, C, Sutherland, S, Vanderhout, S, King, WJ, Zuijdwijk, C, Major, N et al.. A pediatric virtual care evaluation framework and its evolution using consensus methods. BMC Pediatr. 2023.23 (1)402 PMID:37592246

Huang, T, Bellai-Dussault, K, Meng, L, Hull, D, Howley, H, Reszel, J et al.. First and second trimester maternal serum markers for prenatal aneuploidy screening: An update on the adjustment factors for race, smoking, and insulin dependent diabetes mellitus. Clin Biochem. 2023.118 110596 PMID:37295638

Carter, MT, Srour, M, Au, PB, Buhas, D, Dyack, S, Eaton, A et al.. Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG). J Med Genet. 2023.60 (6)523-532 PMID:36822643

Bellai-Dussault, K, Meng, L, Howley, H, Reszel, J, Huang, T, Lanes, A et al.. Cytogenetic outcomes following a failed cell-free DNA screen: a population-based retrospective cohort study of 35,146 singleton pregnancies. Am J Obstet Gynecol. 2023.229 (2)168.e1-168.e8 PMID:36627072

Boycott, KM, Hartley, T, Kernohan, KD, Dyment, DA, Howley, H, Innes, AM et al.. Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery. Am J Hum Genet. 2022.109 (11)1947-1959 PMID:36332610

Dougan, SD, Okun, N, Bellai-Dussault, K, Meng, L, Howley, HE, Huang, T et al.. Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada. CMAJ. 2021.193 (30)E1156-E1163 PMID:34344770

Hartley, T, Lemire, G, Kernohan, KD, Howley, HE, Adams, DR, Boycott, KM et al.. New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases. Annu Rev Genomics Hum Genet. 2020.21 351-372 PMID:32283948

Boycott, KM, Campeau, PM, Howley, HE, Pavlidis, P, Rogic, S, Oriel, C et al.. The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms. Am J Hum Genet. 2020.106 (2)143-152 PMID:32032513

Allanson, J, Smith, A, Forzano, F, Lin, AE, Raas-Rothschild, A, Howley, HE et al.. Nablus syndrome: Easy to diagnose yet difficult to solve. Am J Med Genet C Semin Med Genet. 2018.178 (4)447-457 PMID:30580486

Marshall, DA, Benchimol, EI, MacKenzie, A, Duque, DR, MacDonald, KV, Hartley, T et al.. Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases. Genet Med. 2019.21 (5)1049-1057 PMID:30245512

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