A photo of Brittany Simpson.

Assistant Professor, UC Department of Pediatrics

513-636-4760

Board Certified

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"Our job is to look at the whole picture. When I see a patient, I want to ensure that care is personalized based on their particular genetic condition."

My Biography & Research

Biography

Each day I wake up, check my email, and look at a photograph of my 9-year-old self at my brother's second birthday party. The party's theme was "When I Grow Up." Without hesitation, I looked at my mother and told her I needed a stethoscope. Medicine has fascinated me ever since — from its explanations of the human body’s inner workings to the ability to help a family through uncertain and foreign times.  

Although I knew at that birthday party I wanted to pursue medicine, my hands-on experience has clarified that my place is in Medical Genetics. I had not realized doctors could be geneticists when I started medical school. However, through a lecture in biochemistry, I learned that underlying molecular processes can be seen firsthand in patients with inborn metabolism errors. When I realized that a geneticist could be a caregiver, counselor, teacher, and scientist in their patients' lives, I knew I was on the right career path. 

As a clinical geneticist, I diagnose the following conditions:

  • Epigenetic syndromes management with a focus on:
    • Rubinstein Taybi Syndrome
    • Menke-Hennekam Syndrome
    • Kabuki Syndrome
    • CHARGE Syndrome
    • KAT6A Syndrome
  • Neurofibromatosis type 1
  • Neurofibromatosis type 2
  • Schwannomatosis
  • Immunogenetics
  • Phenotypic variability
  • Eye Genetics Conditions
  • General Genetic conditions

My philosophy of care is a very holistic approach, which is how geneticists see the world. Our job is to look at the whole picture. When I see a patient, I strive to discover the underlying  diagnosis to ensure care is personalized based on their particular genetic condition. Following diagnosis, I follow my patients to monitor for known complications and provide recommendations for disease-specific management.  

We provide care for patients suspected of a genetic disease and those with birth defects and developmental delays. We follow our patients throughout their lifespan, knowing that care changes over time in certain syndromes. 

In my research, our Epigenetic Syndromes Clinic is conducting research studies designed to understand the natural history of these syndromes better and identify targets for outcome and treatment research. At this time, we are working on collaborative projects that better clinically characterize children and adults with epigenetic syndromes, including disease pathophysiology as well as improving management and treatment for these conditions. We have ongoing work with our translational and basic science partners utilizing induced pluripotent stem cell (iPSC) lines. 

I also see patients within the Neurofibromatosis Program, where we specialize in multidisciplinary care as well as a plethora of research studies for interested individuals. Through our research, we strive to impact outcomes for patients and bring even more drugs to the market following the first approved medication for Neurofibromatosis Type 1 in 2020. 

During my free time, I love to hike, camp, eat delicious food and garden. I also love marine biology and would have become a mermaid if that were possible.

Clinical Interests

Epigenetic syndromes including those listed above as well as others; Neurofibromatosis type 1; Neurofibromatosis type 2; Schwannomatosis; immunogenetics; phenotypic variability

Research Interests

Epigenetic syndromes – disease pathophysiology as well as improving management and treatment for these conditions; prognostic factors related to genetic syndromes; characterization and outcomes in CHARGE syndrome; natural history and skeletal impacts of Neurofibromatosis type 1

Academic Affiliation

Assistant Professor, UC Department of Pediatrics

Clinical Divisions

Human Genetics

Research Divisions

Human Genetics

My Locations

My Education

BA: University of Mississippi, Oxford, MS.

MD: University of Mississippi Medical Center, Jackson, MS.

Predoctoral Fellowship: National Institutes of Health, National Institute on Aging.

Residency: Pediatrics and Medical Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.

My Publications

CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia. Simpson, BN; Khattar, D; Saal, H; Prada, CE; Choo, D; Marcheschi, L; Wiley, S; Hopkin, RJ. European Journal of Medical Genetics. 2021; 64.

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel. Arjunan, A; Bellerose, H; Torres, R; Ben-Shachar, R; Hoffman, JD; Angle, B; Slotnick, RN; Simpson, BN; Lewis, AM; Magoulas, PL; et al. Prenatal Diagnosis. 2020; 40:1246-1257.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. Accogli, A; Calabretta, S; St-Onge, J; Boudrahem-Addour, N; Dionne-Laporte, A; Joset, P; Azzarello-Burri, S; Rauch, A; Krier, J; Fieg, E; et al. American Journal of Human Genetics. 2019; 105:854-868.

Blood metabolite markers of cognitive performance and brain function in aging. Simpson, BN; Kim, M; Chuang, Y; Beason-Held, L; Kitner-Triolo, M; Kraut, M; Lirette, ST; Windham, BG; Griswold, ME; Legido-Quigley, C; et al. Journal of Cerebral Blood Flow and Metabolism. 2016; 36:1212-1223.

Blood metabolite markers of preclinical Alzheimer's disease in two longitudinally followed cohorts of older individuals. Casanova, R; Varma, S; Simpson, B; Kim, M; An, Y; Saldana, S; Riveros, C; Moscato, P; Griswold, M; Sonntag, D; et al. Alzheimer's and Dementia. 2016; 12:815-822.

PLASMA PHOSPHATIDYLCHOLINES ARE ASSOCIATED WITH ALZHEIMER'S DISEASE AS WELL AS BRAIN FUNCTION AND COGNITIVE PERFORMANCE DURING AGING. Thambisetty, M; Simpson, B; Min, K; Chuang, Y; Beason-Held, LL; Kitner-Triolo, M; Kraut, M; Lirette, S; Windham, BG; Griswold, M; et al. Alzheimer's and Dementia. 2016; 12:p165-p166.