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). One of the NTD projects is examining the potential connection between fumonisin exposure and the occurrence of NTDs in Guatemala. She also co-directs the largest genetic study of anencephaly world-wide. Another interest is the genetic etiology of Chiari type I malformation (CMI), with or without syringomyelia, a condition often misdiagnosed because of the clinical presentation. The CMI team is using cranial morphology measurements and gene expression profiles to help identify clinically and genetically homogeneous subsets of CMI patients. Dr. Ashley-Koch is involved in the genetic dissection of several psychiatric genetic conditions, including autism, ADHD, bipolar disorder, depression and post-traumatic stress disorder.
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 her group is identifying the genetic risk factors for these complications. Her group utilizes in vivo zebrafish models to evaluate the functional significance of genetic risk factors for SCD nephropathy.
Dr. Ashley-Koch’s lab takes a variety of molecular approaches to dissect these diseases, including next generation sequencing technologies, epigenetic methods, genomewide SNP analyses and candidate gene mutation analysis. Dr. Ashley-Koch is also interested in statistical methods development to reduce dimensionality and to identify underlying substructure in genetic data sets.
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 and the Publications Committee for TOPMed.
Recent TOPMed Publications:
The PsychENCODE Project
Dr. Ashley-Koch collaborates with colleagues Dr. Greg Crawford, Greg Wray and Tim Reddy at Duke and Dr. Pat Sullivan at UNC to identify non-coding genomic variation that may contribute to risk for schizophrenia.
Recent PsychENCODE Publications:
Psychiatric Genomics Consortium for PTSD
Dr. Ashley-Koch is an active member of the Psychiatric Genomics Consortium. Along with her colleague, Dr. Mike Hauser, Dr. Ashley-Koch co-leads the Gene Expression Working Group for PTSD.
Recent Psychiatric Genomics Consortium for PTSD papers: