For most metabolic disorders, care is a partnership. Our team may work with a family from the newborn stage into adulthood. If a child’s care plan involves something as basic as food, it means a diagnosis will impact daily life, birthday parties, school, college and more. When doctors and the family are on the same team, we find ways to say, 'Maybe try this,' rather than, 'You can't have that.'

About

Biography

My father, who was a primary care internist, inspired me to become a doctor. I like children and the people who care for them, which is why I chose my current focus.

As a clinical and biochemical geneticist, I take care of families, children and adults with a known or suspected genetic condition. Biochemical genetics focuses on inborn errors of metabolism. These conditions are genetic changes that impact how our bodies use food and energy, transport chemicals into and out of cells and dispose of waste products.

My field involves a lot of chemistry, which is why I like it.

I am a leader in developing newborn screening processes for early diagnosis and management of genetic conditions. This screening is often the first contact a family has with the Cincinnati Children’s Hospital Medical Center genetic/metabolic team.

For most metabolic disorders, care is a partnership. Our team may work with a family from the newborn stage into adulthood. If a child’s care plan involves something as basic as food, it means a diagnosis will impact daily life, birthday parties, school, college and more. When doctors and the family are on the same team, we find ways to say, "Maybe try this," rather than, "You can't have that."

In my research, my team collaborates with other researchers and our industry to evaluate new ways to offer care to our families.

I’m honored to have served as the chair of the Ohio Newborn Screening Advisory Council for more than 10 years. This council includes individuals from multiple disciplines and family members. The council helps the Ohio Director of Health make decisions about what should be included in newborn screenings.

With my free time, I like to do crossword and logic puzzles. I sing in a choir and play the pipe organ and piano. I also like to sew quilts, clothing, face masks and things we can use in the clinic.

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Insurance Information

Cincinnati Children's strives to accept a wide variety of health plans. Please contact your health insurance carrier to verify coverage for your specific benefit plan.

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Publications

Participant choices for return of genomic results in the eMERGE Network. Hoell, C; Wynn, J; Rasmussen, LV; Marsolo, K; Aufox, SA; Chung, WK; Connolly, JJ; Freimuth, RR; Kochan, D; Hakonarson, H; et al. Genetics in Medicine. 2020; 22:1821-1829.

Tertiary Pediatric Academic Institution's Experience With Intraoperative Neuromonitoring for Nonspinal Surgery in Children With Mucopolysaccharidosis, Based on a Novel Evidence-Based Care Algorithm. Kandil, AI; Pettit, CS; Berry, LN; Busso, VO; Careskey, M; Chesnut, E; Buck, DW; Leslie, ND; Tamai, J; McAuliffe, JJ; et al. Anesthesia and Analgesia. 2020; 130:1678-1684.

A comparison of clinical outcomes and transplant complications/morbidity with early (<4 months of age) versus late (~ 1 yr of age) hematopoietic stem cell transplant in sibling pairs with a diagnosis of MPS I (Hurler syndrome). Wehmeyer, C; Mack, A; Bailey, L; Leslie, N; Prada, C. Molecular Genetics and Metabolism. 2020; 129.

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Kishnani, PS; Gibson, JB; Gambello, MJ; Hillman, R; Stockton, DW; Kronn, D; Leslie, ND; Pena, LD M; Tanpaiboon, P; Day, JW; et al. Genetics in Medicine. 2019; 21:2543-2551.

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry. Reuser, AJ J; van der Ploeg, AT; Chien, YH; Llerena, J; Abbott, MA; Clemens, PR; Kimonis, VE; Leslie, N; Maruti, SS; Sanson, BJ; et al. Human Mutation. 2019; 40:2146-2164.

Front Cover, Volume 40, Issue 11. Reuser, AJ J; Chien, Y; Llerena, J; Abbott, M; Clemens, PR; Kimonis, VE; Leslie, N; Maruti, SS; Sanson, B; Araujo, R; et al. Human Mutation. 2019; 40:i-i.

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13. Russell, BE; Whaley, KG; Bove, KE; Labilloy, A; Lombardo, RC; Hopkin, RJ; Leslie, ND; Prada, C; Assouline, Z; Barcia, G; et al. Hepatology. 2019; 70:1066-1070.

EMPOWERS: A phase 1/2 clinical trial of SB-318 ZFN-mediated in vivo human genome editing for treatment of MPS I (Hurler syndrome). Harmatz, P; Lau, HA; Heldermon, C; Leslie, N; Foo, CW P; Vaidya, SA; Whitley, CB. Molecular Genetics and Metabolism. 2019; 126.

Acquired ornithine transcarbamylase deficiency in pediatric and adolescent patients with fibrolamellar hepatocellular carcinoma. Bartlett, AL; Leslie, ND; Gupta, A; Geller, JI. Pediatric Blood and Cancer. 2018; 65.

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. Hahn, SH; Kronn, D; Leslie, ND; Pena, LD M; Tanpaiboon, P; Gambello, MJ; Gibson, JB; Hillman, R; Stockton, DW; Day, JW; et al. Genetics in Medicine. 2018; 20:1284-1294.

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