Holly A. Stessman, PhD
School of Medicine
- Human genetics
- Molecular biology
- Autism spectrum disorder
- Tissue culture
- Intellectual disability
- Animal model systems
- Pharmacology and Neuroscience
- Assistant Professor
Dr. Stessman received her Bachelor of Science degree from Clarke University in Dubuque, IA with a double major in Biology and Biochemistry. She received her graduate degree under the mentorship of Dr. Brian Van Ness at the University of Minnesota-Twin Cities and continued on to do a post doc in Dr. Evan Eichler's group at the University of Washington in Seattle, WA in Genome Sciences. Dr. Stessman joined the faculty at Creighton University in 2016 where she leads a research group identifying and functionally characterizing genetic variation that contributes to complex disease biology with the goal of finding new drug targets that may stop disease progression and improve patient quality of life.
- Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability., American Journal of Human Genetics, 104(3), 530-541, 2019
- Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease., Biology, 8(1), 2019
- Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP., Biological Psychiatry, 85(4), 287-297, 2019
- Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nature Genetics, 51(1), 106-116, 2019
- Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies., American Journal of Human Genetics, 102(5), 985-994, 2018
- Associations between familial rates of psychiatric disorders and de novo genetic mutations in autism., Autism Research and Treatment, 2017
- De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability., American Journal of Human Genetics, 101(5), 768-88, 2017
- Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains., Nature Neuroscience, 20(8), 1043-51, 2017
- Exploring the heterogeneity of neural social indices for genetically-distinct etiologies of autism., Journal of Neurodevelopmental Disorders, 9, 24, 2017
- De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder., American Journal of Human Genetics, 100(4), 689, 2017
- Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases., Nature Genetics, 49(4), 515-26, 2017
- The evolution and population diversity of human-specific segmental duplication., Nature Ecology and Evolution, 1(3), 69, 2017
- Targeted capture and high-throughput sequencing using molecular inversion probes (MIPs)., Methods in Molecular Biology, 1492, 95-106, 2017
"Schizophrenic Psychosis Symptoms on a Background of Mild to Moderate Carnitine Palmitoyltransferase II Deficiency: A Case Report." Abstract for poster presentation. SFN Annual Meeting, Chicago, IL.
- "Disruptive KMT5B variation alters growth and adhesion properties in an in vitro model." Abstract for poster presentation. ASHG Annual Meeting, Houston, TX.
- "Disruptive KMT5B variation alters growth and adhesion properties in an in vitro model." SFARI Annual Fall Retreat, NY, NY.
- "In vitro characterization of growth changes associated with ASD-linked genes." Oral presentation. SFARI Trainees Retreat, NY, NY., 2019
- Local AALAS (American Association for Laboratory Animal Sciences) branch: Spring Meeting. Title: Deciphering the role of KMT5B in neurodevelopment, 2019
- Finding my passion: One scientist's story. Invited speaker for the 17th Summer Research Institute (SRI) Colloquium, Creighton University., 2017
- Creighton Psychiatry Grand Rounds -- Making Bench-to-Bedside Work: Success Stories in Autism. Co-presentation with Dr. Jen Gerdts (University of Washington), 2017
- The Identification of Novel Autism Risk Genes and Their Associated Phenotypes Using a Genotype-First Approach. Invited speaker for the 2017 INBRE Scholars Program, Creighton University., 2017
- Speaker panel: Building a phenotype: Discoveries of genetically distinct subtypes of ASD. “Targeted sequencing identifies 90 neurodevelopmental disorder risk genes with autism and developmental disability biases.” Abstract for platform presentation. IMFAR/INSAR Annual Meeting, San Francisco, CA., 2017
Research and Scholarship Interests
- The focus of the Stessman laboratory is to identify and functionally characterize genetic “drivers” of complex human diseases to find new drug targets that may stop disease progression and improve patient quality of life. Specifically we focus on genetic diversity in two disease systems, autism spectrum disorder and cancer. As a functional genomics laboratory, we utilize a diverse array of tools, including next-generation sequencing technologies, mouse modeling, human cell line modeling, CRISPR genome-engineering, high-throughput small-molecule screening, and classical molecular and cell biology approaches. Computational resources also play a central role in multiple aspects of our research.
Current Research Projects
- The major objective of our current work is to determine the functional relevance of disease-associated mutations that we have identified in autistic patients moving beyond genetic subtypes to understand the biology of the disease. Using CRISPR/Cas9 genome engineering technology, we are modeling two classes of mutations in human cell lines: (1) early truncating mutations (a model of haploinsufficiency) and (2) specific mutations that have been observed in patients. By modeling these types of mutations in human induced pluripotent stem cells (iPSCs), we can observe what effects these variants have on neural precursors and during neuronal differentiation which can be studied in the cell culture dish.
Grant Funding Received
- Identifying High-Risk Genetic Variation in Familial Breast & Ovarian Cancer
- Beyond BRCA: Identifying High-Risk Genetic Variation in Hereditary Breast Cancer
- In Vitro Modeling of Genetic Subtypes of Autism
- The Molecular Biology of Neurosensory Systems: Deciphering the Role of KMT5B in Motor Delay (NIGMS: COBRE; PI: Shelley Smith, UNMC)
- The Dr. George F. Haddix President’s Faculty Research Fund, Creighton University (Role: Co-I), Capturing the Gaps in Patients with Autism Through Collaborative Care (03/01/18 – 02/28/19)
- The Dr. George F. Haddix President’s Faculty Research Fund, Creighton University (Role: Co-I), Investigation of Carnitine Palmitoyltransderase II Deficiency and CPTII Function in Neurodevelopment
- PCORI Engagement/Educational Project (EAIN-3885), 2017