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McCallion Lab Studies the Genetics of Disease

McCallion Lab Studies the Genetics of Disease

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The Researcher

Name: Andrew (Andy) McCallion, Ph.D.
Title: Associate Professor of Molecular and Comparative Pathobiology
Years at Johns Hopkins: 14 years on faculty

The Research

Interests and Goals:

  • Seeks to understand how defects in the genomic instructions that control when and where important genes are active result in neurological and cardiovascular diseases.
  • Integrating cutting edge genomic tools and computational artificial intelligence to study the basis of disorders such as Parkinson’s disease, addiction, schizophrenia, epilepsy and common structural heart anomalies.
  • Long-term goal is to use these approaches in contributing to improved diagnostic, prognostic and ultimately therapeutic strategies in patient care.

Main Grants:

  • Funding from the NIH, National Institute of Neurological Disease and Stroke to study the way in which neuronal gene control is encrypted in the human genome — particularly in understanding Parkinson’s disease risk.
  • Funding from the NIH, National Institute of Mental Health supporting efforts to better understand the functional consequences of mutations predicted to influence neuropsychiatric disease such as schizophrenia.
  • Funding from a private foundation to support studies of cardiovascular disease/defect genetics — developing zebrafish models to study gene function in the adult zebrafish heart.

Highlights of Zebrafish Research:

  • Pioneered a novel strategy for studying human gene control regions using zebrafish and made systems available worldwide. Early work highlighted the value of zebrafish as a model system to study human genetic control.
  • Using zebrafish, demonstrated the critical role and effect of mutations within a range of human control elements in modulating risk of common human disorders, including structural heart defects, schizophrenia, congenital intestinal neuronal absence (Hirschsprung disease) and skin cancers.
  • Lab played a founding role in the FINZ (Functional Investigation in Zebrafish) center in the Johns Hopkins University School of Medicine. McCallion, along with Dr. Mumm, co-directs this facility on behalf of the Institute of Genetic Medicine. The aim of the center is to develop and implement novel strategies for functional investigation in zebrafish and to help school of medicine colleagues make informed use of these technologies.

Recent Advancements:

Developed a pipeline to study heart defects in adult zebrafish. Established both high resolution cardiac ultrasound and EKG for standard phenotyping in adult zebrafish. Use genome editing to establish a wide array of mutations in candidate genes implicated in disease. This pipeline is now yielding significant insights and serves as a model for functional genetic dissection of human disease.

 
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