Much of Dr. Ashley-Koch's work focuses on disorders of a neurological or psychiatric nature. She is examining the genetic, epigenetic and environmental contributions to neural tube defects (NTDs), including one of the largest studies of anencephaly world-wide. She is part of a large international collaboration to study the genetic causes of spina bifida. Another research interest is the genetic etiology of Chiari type I malformation (CMI), with or without syringomyelia. The CMI team is using cranial morphology measurements with genetic and genomic profiles to identify clinically and genetically homogeneous subsets of CMI patients. Dr. Ashley-Koch is also involved in the genetic dissection of several psychiatric genetic conditions, including depression, post-traumatic stress disorder and suicidal behaviors, particularly among our Veteran population.

A long-standing interest has been the identification of genetic modifiers for sickle cell disease (SCD). Despite the commonality of the sickle cell mutation, there is a wide range of clinical severity in the disease presentation and Dr. Ashley-Koch and her collaborators have worked for many years to understand this variability in presentation using multiple ‘omic technologies.

Dr. Ashley-Koch’s lab takes a variety of molecular approaches to dissect these conditions, including next generation sequencing technologies, single cell sequencing technologies, epigenetic methods, metabolomics, proteomics and genome-wide SNP analyses. Analytically, her lab uses integrative ‘omic analyses to better understand biological mechanisms.

NHLBI Trans-Omics for Precision Medicine Whole Genome Sequencing Program

Dr. Ashley-Koch and her long-time collaborator, Dr. Marilyn Telen, have contributed their “Outcome Modifying Genes in Sickle Cell Disease” (OMG-SCD) cohort to NHLBI’s TOPMed program. OMG-SCD is a cohort of adult sickle cell disease patients that were collected for the purpose of identifying genetic modifiers of SCD.

Dr. Ashley-Koch serves on the Executive Committee for TOPMed.

TOPMed Publications:

• Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
• Clonal hematopoiesis in sickle cell disease
• Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Psychiatric Genomics Consortium for PTSD

Dr. Ashley-Koch is an active member of the Psychiatric Genomics Consortium. 

Psychiatric Genomics Consortium for PTSD papers:

• Traumatic stress and accelerated DNA methylation age: A meta-analysis
• Genomic Approaches to Posttraumatic Stress Disorder: The Psychiatric Genomic Consortium Initiative
• Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability
• Epigenome-wide association of PTSD from heterogeneous cohorts with a common multi-site analysis pipeline

Million Veteran Program

Dr. Ashley-Koch and colleagues are studying the genetic contributions to suicidal behaviors in Veterans.

MVP papers:

• A genome-wide association study of suicide attempts in the million veterans program identifies evidence of pan-ancestry and ancestry-specific risk loci
• Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

RESEARCH STUDIES

• Anencephaly
• Chiari Type 1 Malformation
• Neural Tube Defects (NTD)
• Sickle Cell Disease (SCD)

NEWS ARTICLES

Genetic Determination of Cortex Structure