Bio

2019
 
Postdoctoral fellowship, Broad Institute of MIT and Harvard, Massachusetts General Hospital, and Boston Children’s Hospital (Advisors: Drs. Jose Florez and Joel Hirschhorn)
2016
 
Ph.D. Human Medical Genetics and Genomics, University of Colorado Denver, Anschutz Medical Campus (Advisor: Dr. Richard Spritz)
2010
B.S. Cellular Biology and Molecular Genetics, University of Maryland

Research Highlights

  • 26 Peer-reviewed publications (4 additional submitted or under review)
  • Continual early career funding (Harvard T32 postdoctoral fellowship, American Diabetes Association postdoctoral fellowship, NIDDK K99/R00 Pathway to Independence Award)
  • Downloadable CV at the bottom of the page

 

Undergraduate Training: Molecular Biology

After completing a four-year biotechnology program at a technology magnet high school, I received my bachelor’s degree with academic honors in Cellular Biology and Molecular Genetics from the University of Maryland in 2010 while working as a research associate in KPL’s R&D department (now SeraCare, an antibody and immunochemical company). Academically, I took every opportunity to focus my studies on human genetics, including a human genetics discussion course where I first learned about genome-wide association studies (GWAS). I was intrigued by the seemingly simple concept of comparing genomes across groups of individuals to identify genetic variants statistically associated with any given trait. This method was ground-breaking in the field of genetics at the time, and as an undergraduate with primarily wet-lab experience, I began to shift my research interests into statistical genetics.

Graduate Training: Genetics of Facial Shape

I received my Ph.D. in 2016 at the University of Colorado Denver, Anschutz Medical Campus in the Human Medical Genetics and Genomics Program under the mentorship of the program director, Dr. Richard Spritz. At this stage I put aside bench work and delved into statistical and computational genetics, complementing my biology background with a formal education in statistics. The primary goal of my dissertation was to better understand the genetic architecture of normal human facial variation in children and adolescents from Tanzania. Similar to phenotypes derived from diet questionnaires (my current focus), facial shape is amazingly complex and can be defined in many ways by analyzing highly correlated variables both individually and together. Using landmarking and phenotyping methods we developed for 3D facial images, I discovered novel loci influencing distinct measures of facial shape and uncovered genetic relationships between facial shape, body size, and growth. This work has important implications for normal and abnormal development and the future of facial prediction in forensics.

Postdoctoral Training: Genetics of Diabetic Kidney Disease

In 2016, I joined the labs of Drs. Jose Florez and Joel Hirschhorn at The Broad Institute of MIT and Harvard, Massachusetts General Hospital, and Boston Children’s Hospital as a Harvard and MGH T32 postdoctoral fellow to translate my skills in quantitative genetics to disease biology. I am a lead analyst in the ‘GEnetics of Nephropathy – an International Effort’ (GENIE) consortium whose goal is to characterize the genetic determinants of diabetic kidney disease (DKD) using large-scale genomics, epigenomics, expression data, and cell and animal models. In 2019, we discovered 16 novel genome-wide significant loci associated with DKD in over 19K individuals from 17 cohorts all with type 1 diabetes. The lead signal was a common missense variant on the exome chip in the collagen type IV alpha 3 chain (COL4A3) gene, encoding a major structural component of the kidney’s glomerular basement membrane. The protective effect of the minor allele was stronger in both males and individuals with higher levels of hyperglycemia and was also associated with thinner glomerular basement membrane thickness (membrane thickening is a hallmark of disease). The discovery of COL4A3 as a promising candidate gene, whose mechanistic role in diabetic kidney disease is now being pursued in several research groups both within and outside of GENIE, is a perfect example of the power of GWAS and inter-disciplinary team science to pull together expertise and resources for potential clinical impact.

Independent Investigation: Genetics of Dietary Intake

In 2018, I combined my interests and training in statistical genetics, phenotyping complex normal variation, and metabolic disease with coursework in nutritional epidemiology at the Harvard T.H. Chan School of Public Health to focus on nutrigenomics with inherently noisy diet questionnaire data. Under the scientific premise that almost all human traits are influenced by genetic variation, I received an American Diabetes Association postdoctoral fellowship to conduct the largest genomic analysis of dietary intake using 170 data-driven dietary habits in UK Biobank, including principal component dietary patterns and novel food comparisons. I found that most dietary habits had significant, albeit modest, heritability, and using GWAS I discovered 814 associations encompassing loci with both direct (e.g. olfactory receptors and metabolic enzymes) and indirect (e.g. those also associated with socio-economic status and body mass index) effects on diet, for which 205 were previously unreported for any trait and 136 were specific to dietary patterns. This work lays the foundation for my NIDDK K99/R00 Pathway to Independence Award to use genetics as a common human reference to harmonize heterogeneous dietary phenotypes across diverse cohorts.

 

joannecole_cv_2021dec26_online.pdf178 KB