Holly A. Feser Stessman, PhD
Associate Professor
Pharmacology & Neuroscience
Contact
School of Medicine
Pharmacology and Neuroscience
CRISS III - Criss 3 - 575
Holly A. Feser Stessman, PhD
Associate Professor
Pharmacology & Neuroscience
Specifically, the laboratory is interested in the gene KMT5B which is highly expressed in the developing brain and may regulate the expression of many other autism-linked genes. Using mice as a model system, we hope to better understand (1) how KMT5B regulates gene expression in the brain over developmental time, (2) if KMT5B impacts tissues other than the brain, and (3) if there are novel drug targets that may stop disease progression and improve patient quality of life.
Check out our recent work: Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Collaborative Research
The Stessman Lab maintains active collaborations with faculty in the Department of Obstetrics and Gynecology who are interested in how inherited genetic variation contributes to a risk for developing cancer. Current studies in the laboratory hope to understand how Lynch Syndrome-associated variants of undetermined significance (VUSs) increase these risks. Dr. Stessman also manages the Creighton University Biorepository and Tissue Processing Core Facility (formerly the Hereditary Cancer Center).
Research Area(s)
- Autism genetics
- Rare genetic forms of autism (KMT5B-linked autism)
- Mouse modeling of autism biology
- Intellectual disability/developmental delay
- Neuroendocrine regulation in autism
- Human genetics/genomics
- Functional genomics
- Women's Cancers (Endometrial and Ovarian Cancer)
- Biorepository of Lynch Legacy Samples
Teaching Interests
- Human genetics
Research Focus
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.Department
Pharmacology and Neuroscience
Position
Associate Professor
Books
- Methods in Molecular Biology
Cantsilieris Stuart, Targeted capture and high-throughput sequencing using molecular inversion probes (MIPs) [Book Chapter] 2017
Articles
- Cheng Hanyin, Erratum 2020
- Küry Sébastien, Erratum 2017
- Stessman Holly A., A genotype-first approach to defining the subtypes of a complex disease 2014
Publications
- Biological psychiatry (1969)
Gawande Dinesh Y., GluN2D subunit in parvalbumin interneurons regulates prefrontal cortex feed-forward inhibitory circuit and molecular networks relevant to schizophrenia 2023 - Science advances
Sheppard Sarah E, Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
9:10, p. eade1463 - eade1463 2023 - Frontiers in Genetics
Hulen Jason, KMT5B is required for early motor development
13 2022 - Frontiers in Microbiology
Siedlik Jacob A., Epidemiologic and Genomic Analysis of the Severe Acute Respiratory Syndrome Coronavirus 2 Epidemic in the Nebraska Region of the United States, March 2020–2021
13 2022 - Autism Research
Wickramasekara Rochelle N., Differential effects by sex with Kmt5b loss
14:8, p. 1554 - 1571 2021 - Reports
Wickramasekara Rochelle N., Schizophrenic Psychosis Symptoms in a Background of Mild-To-Moderate Carnitine Palmitoyltransferase II Deficiency: A Case Report
3:4, p. 31 - 31 2020 - Cancer Research
Duncan Ravyn M., ATF3 coordinates antitumor synergy between epigenetic drugs and protein disulfide isomerase inhibitors
80:16, p. 3279 - 3291 2020 - Journal of Interprofessional Education and Practice
Pope Kayla, Clinician, caregiver and patient perspectives of the continuum of care for autism
19 2020 - Journal of cancer research and therapeutic oncology
Su Feng, Bovine HDL and Dual Domain HDL-Mimetic Peptides Inhibit Tumor Development in Mice
8:1, p. 101 - 101 2020 - Human Molecular Genetics
Cheng Hanyin, Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
28:17, p. 2900 - 2919 2019 - American journal of human genetics
Cogné Benjamin, Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
104:3, p. 530 - 541 2019 - Biology
Wickramasekara Rochelle N., Histone 4 lysine 20 methylation
8:1 2019 - Biological Psychiatry
Van Dijck Anke, Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
85:4, p. 287 - 297 2019 - Nature genetics
Coe Bradley P., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
51:1, p. 106 - 116 2019 - American journal of human genetics
Cheng Hanyin, Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
102:5, p. 985 - 994 2018 - American journal of human genetics
Küry Sébastien, De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
101:5, p. 768 - 788 2017 - Nature Neuroscience
Geisheker Madeleine R., Hotspots of Missense Mutation Identify Neurodevelopmental Disorder Genes and Functional Domains
20:8, p. 1043 - + 2017 - Nature genetics
Stessman Holly A.F., Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
49:4, p. 515 - 526 2017 - Nature Ecology and Evolution
Dennis Megan Y., The evolution and population diversity of human-specific segmental duplications
1:3 2017 - American journal of human genetics
Küry Sébastien, De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
100:2, p. 352 - 363 2017 - Autism Research and Treatment
Luhrs Kyleen, Associations between familial rates of psychiatric disorders and de novo genetic mutations in autism
2017, p. 1 - 9 2017 - European neuropsychopharmacology
Wang Tianyun, M11 - DE NOVO GENIC MUTATIONS AMONG A CHINESE AUTISM SPECTRUM DISORDER COHORT
27, p. S373 - S373 2017 - Nucleic Acids Research
Turner Tychele N., NAR Breakthrough Article denovo-db
45:D1, p. D804 - D811 2017 - Journal of Neurodevelopmental Disorders
Hudac Caitlin M., Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism
9:1 2017 - Nature Communications
Wang Tianyun, De novo genic mutations among a Chinese autism spectrum disorder cohort
7 2016 - Nature
Nuttle Xander, Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
536:7615, p. 205 - 209 2016 - Frontiers in Genetics
Mitra Amit K., Fine-mapping of 18q21.1 locus identifies single nucleotide polymorphisms associated with nonsyndromic cleft lip with or without cleft palate
7:MAY 2016 - Leukemia
Mitra A. K., Single-cell analysis of targeted transcriptome predicts drug sensitivity of single cells within human myeloma tumors
30:5, p. 1094 - 1102 2016 - American journal of human genetics
Stessman Holly A.F., Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
98:3, p. 541 - 552 2016 - Genome Medicine
Stessman Holly A.F., Molecular subtyping and improved treatment of neurodevelopmental disease
8:1 2016 - American journal of human genetics
Turner Tychele N., Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
98:1, p. 58 - 74 2016 - Neurology
Chen Dong Hui, ADCY5-related dyskinesia
85:23, p. 2026 - 2035 2015 - Nature genetics
Krumm Niklas, Excess of rare, inherited truncating mutations in autism
47:6, p. 582 - 588 2015 - Stessman H. A.F., High-throughput drug screening identifies compounds and molecular strategies for targeting proteasome inhibitor-resistant multiple myeloma 2014
- Journal of Cancer
Fall Deanna J., Utilization of translational bioinformatics to identify novel biomarkers of bortezomib resistance in multiple myeloma
5:9, p. 720 - 727 2014 - Stessman Holly A.F., Stabilization of activation induced cytidine deaminase by bortezomib does not confer increased drug target mutation frequency 2014
- Blood
Van Ness Brian, Strategies To Identify Effective Treatments For Proteasome Inhibitor Resistant Multiple Myeloma
122:21, p. 278 - 278 2013 - Stessman H. A.F., Reduced CXCR4 expression is associated with extramedullary disease in a mouse model of myeloma and predicts poor survival in multiple myeloma patients treated with bortezomib 2013
- Molecular Cancer Therapeutics
Stessman Holly A.F., Profiling bortezomib resistance identifies secondary therapies in a mouse myeloma model
12:6, p. 1140 - 1150 2013 - PloS one
Stessman Holly A.F., Bortezomib resistance can be reversed by induced expression of plasma cell maturation markers in a mouse in vitro model of multiple myeloma.
8:10 2013
Presentations
- KMT5B is required for early motor development 2022
- Kmt5b is highly expressed in the developing brain and may regulate other known autism risk genes and processes 2021
- Characterization of KMT5B Haploinsufficiency in Mice Recapitulates Neurodevelopmental Disorder Phenotypes 2021
- "Behavioral and transcriptional analyses of Kmt5b haploinsufficient mice recapitulate human neurodevelopmental disorder phenotypes." Poster presentation. ASHG Annual Meeting, virtual due to COVID-19. 2020
- "Loss of Kmt5b results in structural changes at the skeletal muscle neuromuscular junction." Poster presentation. INSAR Annual Meeting, virtual due to COVID-19. 2020
- "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. 2019
- "Disruptive KMT5B variation alters growth and adhesion properties in an in vitro model." Abstract for poster presentation. ASHG Annual Meeting, Houston, TX. 2019
- "Disruptive KMT5B variation alters growth and adhesion properties in an in vitro model." SFARI Annual Fall Retreat, NY, NY. 2019
- "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
State
Identifying High-Risk Genetic Variation in Familial Breast & Ovarian Cancer
Other
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)
Consulting
- PCORI Engagement/Educational Project (EAIN-3885)
Consultant
Children’s Mercy Kansas City - Zohreh Talebizadeh, PhD (PI)
2017 - 2019