Allison Elizabeth Ashley-Koch

Allison Elizabeth Ashley-Koch

Professor in Medicine

External Address: 
300 N Duke St., Durham, NC 27701
Internal Office Address: 
Duke Box 104775, Durham, NC 27701


One of my major research foci is in the genetic basis of psychiatric and neurological disorders. I am currently involved in studies to dissect the genetic etiology of attention deficit hyperactivity disorder (ADHD), autism, chiari type I malformations, essential tremor, and neural tube defects. Additional research foci include genetic modifiers of sickle cell disease, and genetic contributions to birth outcomes, particularly among African American women.

Education & Training

  • Ph.D., Emory University 1997

Selected Grants

Genetic and Genomics Training Grant awarded by National Institutes of Health (Mentor). 2020 to 2025

NINDS Research Education Programs for Residents and Fellows in Neurosurgery awarded by National Institutes of Health (Mentor). 2009 to 2025

Identifying novel clinical, genetic and proteomic risk factors for sickle cell nephropathy. awarded by National Institutes of Health (Principal Investigator). 2021 to 2023

Trauma and Genomics Modulate Brain Structure across Common Psychiatric Disorders awarded by National Institutes of Health (Co Investigator). 2017 to 2022

RPE Exosomes in Age-related Macular Degeneration awarded by National Institutes of Health (Collaborator). 2021 to 2022

Modeling Sickle Cell Disease phenotypes through supervised learning of patient multi-omic data awarded by National Heart, Lung, and Blood Institute (Principal Investigator). 2020 to 2021

Bioinformatics and Computational Biology Training Program awarded by National Institutes of Health (Mentor). 2005 to 2021

Eyes of Africa: The Genetics of Blindness awarded by University of Ibadan (Investigator). 2017 to 2021

Transfusion Medicine and Hematology awarded by National Institutes of Health (Preceptor). 1975 to 2021

Sharing Comprehensive 'Omics in Sickle Cell Disease Through the NHLBI TOPMed Network awarded by Doris Duke Charitable Foundation, Inc. (Co Investigator). 2019 to 2020


Markunas, C. A., et al. “Genetics of the chiari I and II malformations.” The Chiari Malformations, 2020, pp. 289–97. Scopus, doi:10.1007/978-3-030-44862-2_23. Full Text

Markunas, C. A., et al. “Genetics of the Chiari i and II malformations.” The Chiari Malformations, vol. 9781461463696, 2013, pp. 93–101. Scopus, doi:10.1007/978-1-4614-6369-6_7. Full Text

Barrera, Julio, et al. “Sex dependent glial-specific changes in the chromatin accessibility landscape in late-onset Alzheimer's disease brains.Mol Neurodegener, vol. 16, no. 1, Aug. 2021, p. 58. Pubmed, doi:10.1186/s13024-021-00481-0. Full Text

Liang, Dan, et al. “Cell-type-specific effects of genetic variation on chromatin accessibility during human neuronal differentiation.Nature Neuroscience, vol. 24, no. 7, July 2021, pp. 941–53. Epmc, doi:10.1038/s41593-021-00858-w. Full Text

Hu, Benxia, et al. “Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders.Nat Commun, vol. 12, no. 1, June 2021, p. 3968. Pubmed, doi:10.1038/s41467-021-24243-0. Full Text

Keramati, Ali R., et al. “Genome sequencing unveils a regulatory landscape of platelet reactivity.Nat Commun, vol. 12, no. 1, June 2021, p. 3626. Pubmed, doi:10.1038/s41467-021-23470-9. Full Text

Sofer, Tamar, et al. “Variant-specific inflation factors for assessing population stratification at the phenotypic variance level.Nat Commun, vol. 12, no. 1, June 2021, p. 3506. Pubmed, doi:10.1038/s41467-021-23655-2. Full Text

Ataga, Kenneth I., et al. “Rapid decline in estimated glomerular filtration rate in sickle cell anemia: results of a multicenter pooled analysis.Haematologica, vol. 106, no. 6, June 2021, pp. 1749–53. Pubmed, doi:10.3324/haematol.2020.267419. Full Text

Wegermann, Kara, et al. “Sex and Menopause Modify the Effect of Single Nucleotide Polymorphism Genotypes on Fibrosis in NAFLD.Hepatol Commun, vol. 5, no. 4, Apr. 2021, pp. 598–607. Pubmed, doi:10.1002/hep4.1668. Full Text

Sadler, Brooke, et al. “Rare and de novo coding variants in chromodomain genes in Chiari I malformation.Am J Hum Genet, vol. 108, no. 3, Mar. 2021, pp. 530–31. Pubmed, doi:10.1016/j.ajhg.2021.01.014. Full Text

Brummett, Beverly H., et al. “Correction to: 5-HTTLPR and Gender Moderate Changes in Negative Affect Responses to Tryptophan Infusion.Behav Genet, vol. 51, no. 2, Mar. 2021, p. 163. Pubmed, doi:10.1007/s10519-020-10030-y. Full Text

Brummett, Beverly H., et al. “Correction to: Effects of Environmental Stress and Gender on Associations among Symptoms of Depression and the Serotonin Transporter Gene Linked Polymorphic Region (5-HTTLPR).Behav Genet, vol. 51, no. 2, Mar. 2021, p. 162. Pubmed, doi:10.1007/s10519-020-10029-5. Full Text


Wen, Fayuan, et al. “Genome Wide Association Analysis of Iron Overload in the Trans-Omics for Precision Medicine (TOPMed) Sickle Cell Disease Cohorts.” Blood, vol. 136, no. Supplement 1, American Society of Hematology, 2020, pp. 52–52. Crossref, doi:10.1182/blood-2020-142809. Full Text


Kachroo, Priyadarshini, et al. “Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma.Chest, vol. 156, no. 6, 2019, pp. 1068–79. Pubmed, doi:10.1016/j.chest.2019.08.2202. Full Text

Bundy, Joseph L., et al. “RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes.Plos One, vol. 14, no. 6, 2019, p. e0217042. Pubmed, doi:10.1371/journal.pone.0217042. Full Text

Gelineau-Van Waes, J., et al. “Fumonisin B1 (FB1) and Fingolimod (FTY720): Tortilla Toxin and Oral Therapeutic Target Sphingolipid Pathways during Neural Tube Closure.” Birth Defects Research, vol. 110, no. 9, WILEY, 2018, pp. 730–730.

Smith, Alicia, et al. “Meta-Analysis of DNA Methylation and PTSD in the Psychiatric Genomics Consortium PTSD Epigenetics Workgroup.” Neuropsychopharmacology, vol. 42, NATURE PUBLISHING GROUP, 2017, pp. S120–21.

Grotegut, Chad A., et al. “Single nucleotide polymorphisms in the oxytocin receptor and GRK6 are associated with oxytocin dosing requirements and labor outcomes.” American Journal of Obstetrics and Gynecology, vol. 216, no. 1, MOSBY-ELSEVIER, 2017, pp. S19–S19.

Jacob, Seethal A., et al. “Thrombospondin-1 Polymorphisms Are Associated with Chronic Kidney Disease in Sickle Cell Anemia.” Blood, vol. 128, no. 22, American Society of Hematology, 2016, pp. 2491–2491. Crossref, doi:10.1182/blood.v128.22.2491.2491. Full Text

Xu, Julia Z., et al. “Factors Related to the Progression of Sickle Cell Disease Nephropathy.” Blood, vol. 128, no. 22, American Society of Hematology, 2016, pp. 9–9. Crossref, doi:10.1182/blood.v128.22.9.9. Full Text

Anderson, Blair R., et al. “GWAS Meta-Analysis of Glomerular Filtration Rate in Three Cohorts of Sickle Cell Disease Patients and In Vivo Functional Analysis Reveals Potential Nephropathy Candidate Genes.” Blood, vol. 128, no. 22, American Society of Hematology, 2016, pp. 269–269. Crossref, doi:10.1182/blood.v128.22.269.269. Full Text


Aung, Tin, et al. “Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.Nat Genet, vol. 47, no. 6, June 2015, p. 689. Pubmed, doi:10.1038/ng0615-689c. Full Text