Curtis Coughlin, PhD, MBe, MS

Associate Professor, Pediatrics-Clinical Genetics and Metabolism


FacultyPhoto
Graduate Schools
  • MS, Arcadia University (2001)
  • MBe, University of Pennsylvania (2010)
  • PhD, University of Colorado Health Sciences Center (2021)
Undergraduate School
  • BS, Geneva College (PA) (1999)
Department
Pediatrics-Clinical Genetics and Metabolism

Professional Titles

  • Healthcare Ethics Consultant

Recognitions

  • Emmanuel Shapira Award, Society for Inherited Metabolic Disorders (SIMD) (2015)
    Awarded for the best research paper published in Molecular Genetics and Metabolism by a member of the SIMD

Research Interests

My clinical research is focused on bioethical issues including the intersection of genetics, privacy, and decision-making and pediatric ethical issues such as parental authority and equitable access to medical interventions. My basic science research is primary focused on inborn errors of metabolism. My laboratory uses animal and cellular models of glutaric aciduria type I (GA I) and pyridoxine-dependent epilepsy (PDE). We partner with clinicians, scientist and families to investigate the role of biochemistry, current treatment paradigms, and clinical outcomes.

Publications

  • Khalil Y, Footitt E, Vootukuri R, Wempe MF, Coughlin CR 2nd, Batzios S, Wilson MP, Kožich V, Clayton PT, Mills PB. Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency. J Inherit Metab Dis. 2025 Jan;48(1):e12783. PubMed PMID: 39038845
  • Jacoby E, Quan D, Todd E, Shortt J, Smith H, Rafaels N, Crooks K. Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region. Muscle Nerve. 2024 Dec 10. [Epub ahead of print] PubMed PMID: 39655870
  • Zielonka M, Kölker S, Garbade SF, Gleich F, Nagamani SCS, Gropman AL, Druck AC, Ramdhouni N, Göde L, Hoffmann GF, Posset R. Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108566. PubMed PMID: 39299137
  • Sen K, Izem R, Long Y, Jiang J, Konczal LL, McCarter RJ, Gropman AL, Bedoyan JK. Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database. Mol Genet Genomic Med. 2024 Apr;12(4):e2443. PubMed PMID: 38634223
  • Posset R, Garbade SF, Gleich F, Nagamani SCS, Gropman AL, Epp F, Ramdhouni N, Druck AC, Hoffmann GF, Kölker S, Zielonka M. Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders. Mol Genet Metab. 2024 Mar;141(3):108112. PubMed PMID: 38301530

Professional Memberships

  • National Society of Genetic Counselors, Member
  • American Board of Genetic Counselors, Diplomate
  • Society for Inherited Metabolic Disorders, Memeber
  • American Society for Bioethics + Humanities, Member
  • Society for the Study of Inborn Errors of Metabolism, Member

Practice Locations

Children's Hospital Colorado Anschutz Medical Campus
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Hospital Affiliation
  • Children's Hospital Colorado

Center Affiliations

Specialty Information

Specialties
  • Certified Genetic Counselor (CGC), Board Certification (2002)
  • Healthcare Ethics Consultant - Certified (HEC-C), Board Certification (2020)
Public Speaking
Yes
Genetics and Ethics, Inborn Errors in Metabolism, Pyridoxine-dependent epilepsy