Dan E. Arking, Ph.D.

Professor
McKusick-Nathans Institute of Genetic Medicine and Department of Medicine, Division of Cardiology
Phone: (410) 502-4867
Fax: (410) 614-8600
arking@jhmi.edu

Education:

Doctor of Philosophy in Human Genetics from Johns Hopkins University School of Medicine – 2001
Bachelor of Science in Cell, Molecular Biology, & Genetics from the University of Maryland, College Park – 1995

Research Interests:

Genetics of complex disease
Cardiovascular disease and sudden cardiac death
Autism
Mitochondrial DNA quality and quantity
Development and implementation of novel GWAS analytical tools

Recognition and Leadership Roles:

Member, The American Society for Human Genetics
Scientific Advisory Board Member, Association for Eradication of Heart Attack (AEHA)
Member, Simons Foundation Autism Research Initiative Review Board
Member, Simons Foundation Autism Research Gene Advisory Board

Stephanie Battle, Ph.D.

Postdoctoral Fellow
sbattl10@jhmi.edu

Education:

Doctor of Philosophy in Department of Genome Sciences from University of Washington – 2017
Bachelor of Science in Biochemistry and Molecular Biology from University of Maryland, Baltimore County – 2010

Research Focus:
My research focuses on understanding the functional relevance of mitochondrial heteroplasmy and its association to human health and disease.

ThuyVy Duong

Human Genetics Graduate Student
vduong4@jhmi.edu

Education:

Bachelor of Science in Biological Sciences from University of Maryland, Baltimore County – 2014

Research Focus:
My work focuses on understanding the genetic architecture of sudden cardiac death (SCD). I am working on examining gene regulatory networks underlying cardiac conduction traits known to be associated with SCD as well as using zebrafish models to elucidate the role of several SCD candidate genes.

Stephanie Yang

Human Genetics Graduate Student
syang93@jhmi.edu
Personal website

Education:

Bachelor of Arts in Chemistry from Bryn Mawr College – 2015

Research Focus:
My work in the lab focuses on understanding the relationships between mitochondrial DNA copy number and nuclear gene expression.

Vamsee Pillalamarri

Human Genetics Graduate Student
vpillal1@jhmi.edu
Google Scholar Profile
Pubmed

Education:

Master of Science in Computational Biology from Carnegie Mellon University – 2009
Bachelor of Science in Computational Biology, Computer Science from Carnegie Mellon University – 2009

Research Focus:
My work in the lab focuses on autism spectrum disorder, related neurodevelopmental and neuropsychiatric disorders, and other complex human disease phenotypes such as coronary artery disease. Broadly, I’m interested in a richer understanding of the genotype to phenotype spectrum in complex traits and disease. How do common genetic variants coalesce and contribute to phenotypic variation? What is the interplay between genotype and phenotype in driving disease risk for specific subpopulations of individuals? What can we learn from understanding the differences between genotype and phenotype with respect to predicting risk for complex disease? To this end, I aim to elucidate the functional role of common, polygenic variation discovered through GWAS of CAD and NPD/NDD by integrating different omics datasets that measure molecular phenotypes including ChIP-Seq, ATAC-Seq, and RNA-Seq, along with polygenic risk scores that capture genotypic risk for these disorders.

Jiaqi Xie

Human Genetics Graduate Student
jxie33@jhmi.edu

Education:

Bachelor of Science in Biological Engineering from MIT – 2016

Research Focus:
My work on the lab focuses on using a multi-omics approach to look for associations with mitochondrial copy number.

Wen Shi

Biomedical Engineering MSE student
wshi3@jhmi.edu

Education:

Bioengineering, University of Washington – 2018

Research Focus:
I am currently working on genetic fine-mapping on SNPs identified from GWAS to mtDNA-CN.

Charles Newcomb

Research Specialist, Lab Manager
cnewcom7@jhmi.edu

Education:

Bachelor of Science in Biological Sciences from the University of Maryland, Baltimore County – 2015
Associate of Science in Biology from Harford Community College – 2013

Research Focus: Lab manager

Caleb Mirabal

Research Technician
cmiraba1@jhmi.edu

Education:

Bachelor of Science in Biochemistry, University of New Mexico – 2017

Research Focus:
My research in the lab focuses on the relationship between mitochondrial DNA copy number, heteroplasmy, and health.

Noah Fine

Undergraduate Laboratory Aide
nfine1@jh.edu

Education:

University of Maryland (Expected 2022)

Research Focus:
My work in the lab involves assisting researchers on the technical side, building software to enable more effective data analysis. On occasion, I’ll analyze some electrocardiograms using the software.

Former Lab Members:

Alishka Garg, M.S.

WAS: Biotechnology MS Student
NOW: Bioinformatics Analyst at GreenLight Biosciences

Christina Castellani, Ph.D.

WAS: Postdoctoral Fellow
NOW: Assistant Professor, Department of Pathology and Laboratory Medicine, Schulich School of Medicine & Dentistry, Western University