NHGRI assists new investigators with Pathway to Independence

The PI award provides two phases of support over four years. In the first phase (K99), young investigators assume postdoctoral assignments that offer a strong foundation for independent research. The second phase (R00) is an independent research position - an important step in an academic career.

"The Pathway to Independence Award is a wonderful way for postdoctoral fellows to launch their careers in academia and open doors for additional funding," said Bettie Graham, Ph.D., director of NHGRI's Division of Extramural Operations. "The K99 provides investigators with an opportunity to learn how to manage a research project. The R00 gives fellows an opportunity to amass preliminary data in order to apply for the R01 grant, which is the traditional NIH investigator-initiated grant. "

A recent modification to the K99/R00 eligibility period, reducing it from five years to four, is designed to open the program to more Ph.D. graduates. The change will encourage more rapid advancement for PI awardees into permanent tenure-track or equivalent faculty positions.

PI Awardees Hosted by NHGRI

Melissa Harris, Ph.D., is a postdoctoral fellow in the Section on Genomics, Development and Disease within NHGRI's Genetic Disease Research Branch. The PI award that supports her position is granted by the National Institute on Aging.

Dr. Harris studies genes and molecular pathways that contribute to healthy adult stem cells, cells that can potentially form many of the different cell types found in the body. Ultimately, she hopes to discover genes and cellular mechanisms that enhance the function of stem cells during a human's lifetime as a way to combat degenerative disease and the adverse effects of aging.

"These studies also tell us about how melanocytes function in adults and can inform us about critical pathways that may be misregulated in melanocyte cancer, or melanoma," said Dr. Harris. Melanocytes are cells that produce the black or dark brown pigment that naturally occurs in the hair or skin. Dr. Harris completed a bachelor's degree in genetics and a Ph.D. in cell and developmental biology at the University of California, Davis.

In addition to research, Dr. Harris is committed to higher education and mentoring. To advance this interest, she took pedagogy courses, classes that deal with the theory and practice of education, offered at NHGRI's Intramural Training Office (ITO). Postdoctoral fellows aren't officially trained in formal teaching techniques, so the ITO training helped prepare her for the administrative side of education.

"Those courses really got me over my fear," Dr. Harris said. "I've always loved teaching students and interacting with students, but planning and setting up a curriculum and lecture feels a little daunting. In those courses, they tell you steps you have to take and, as a result, the idea of teaching became so much more appealing to me."

As Dr. Harris transitions beyond NIH to future faculty positions, she will draw upon what she learned in the program and the support she received from her mentor, William Pavan, Ph.D., head of the Section on Genomics, Development and Disease.

Another PI participant, Stephen Parker, Ph.D., received his award from the National Institute of Diabetes and Digestive and Kidney Disorders, enabling him to become a postdoctoral fellow in NHGRI's Medical Genomics and Metabolic Genetics Branch.

Dr. Parker had attended East Carolina University (ECU) in Greenville, North Carolina, hoping to become a scientist and a soccer phenom. In his junior year, however, new coaches took the soccer team in a different direction, which curbed his athletic aspirations.

"That was probably a good thing because I wasn't focused on my course work as I should have been," said Dr. Parker. "Plus, it gave me an opportunity to dive more into science."

Dr. Parker graduated from ECU with a Bachelor of Science degree in genetics and a Master of Science degree in molecular biology. After a brief stint in industry and at the MIT genome center, he earned a Ph.D. in bioinformatics and systems biology from Boston University.

In 2009, Dr. Parker became a postdoctoral fellow in NHGRI's Genome Technology Branch, where his research focused on diabetes predisposition. Former NHGRI investigator Elliott Margulies, Ph.D., now a researcher at Illumina® in Cambridge, United Kingdom, served as Dr. Parker's original mentor.

"Diabetes is a huge problem in America," Dr. Parker said. "I was curious about how the information is encoded in non-coding regions of the genome, and it looks like that's where most of the diabetes genetic predisposition resides."

When Dr. Margulies left NHGRI, Dr. Parker transitioned to the laboratory of Francis Collins, M.D., Ph.D., NIH director and head of the Molecular Genetics Section of NHGRI's Medical Genomics and Metabolic Genetics Branch.

"It was a perfect fit," said Dr. Parker. "Dr. Collins was a remarkable mentor despite a demanding schedule. He found time to talk to me not only about science, but about my career. We are still in touch through emails and phone calls."

Dr. Parker has transitioned into the R00 phase - the second component - of his PI award. He is an assistant professor in the Department of Computational Medicine and Bioinformatics, as well as the Department of Human Genetics, at the University of Michigan.

"I like mentoring the next generation of scientists," said Dr. Parker. "I can bring them into the labs and show them how exciting and rewarding it can be." He is preparing to open the Parker Lab, which is focused on generating mechanistic knowledge about how disease predisposition is encoded in the non-coding portion of the genome, with a focus on Type 2 diabetes. He is looking forward to integrating his twin passions: science and teaching.

This past fall, Dr. Parker was named one of five winners of the American Diabetes Association' Pathway to Stop Diabetes awards.

NHGRI-Funded PI Awardees

In addition to the intramural recipients, the NHGRI Extramural Research Program issued Pathway to Independence awards to outstanding, early-career researchers around the country. Their academic institutions and current research projects are listed.

• Sharon Aviran, Ph.D., University of California at Davis, Methods for RNA Structural Analysis Using Computation and Structure Mapping Experiments
• Alan P. Boyle, Ph.D., University of Michigan, Ann Arbor, Global Discovery and Validation of Functional Regulatory Elements
• James Bentley Brown, Ph.D., University of California, Lawrence Berkeley National Laboratory, Berkeley, Nonparametric Methods for Functional and Translational Genomics
• Christopher Cassa, Ph.D., Brigham and Women's Hospital, Boston, Clinical Prioritization of Reported Disease Variants in Asymptomatic Individuals
• Barbara Elizabeth Engelhardt, Ph.D., Duke University, Durham, North Carolina, Statistical Models to Investigate Long-Distance QTL Transcription Regulation
• Audrey Q. Fu, Ph.D., University of Chicago, Causal Inference of Gene Regulatory Networks with Application to Breast Cancer
• Nils Gehlenborg, Ph.D., Harvard Medical School, Boston, Visualization Of (EPI) Genomic Data For Discovery Of Disease-Associated Variants
• Jason Gertz, Ph.D., University of Utah, Salt Lake City, Impact of Enhancer Sequence and Interacting Factors on Estrogen Receptor-Mediated
• Michael Milner Hoffman, Ph.D., University of Washington, Seattle, Pattern Discovery for Comparative Epigenomics
• Matthew Nicholson McCall, Ph.D., University of Rochester, Rochester, New York, Statistical Methods for Estimation of Gene Regulatory Networks
• George Ioannou Mias, Ph.D., Michigan State University, East Lansing, Integrative Dynamic Omics Profiling: A First Step Towards Personalized Medicine
• Marsha Mabry Michie, Ph.D., University of California at San Francisco, Mapping An ELSI-Integrated Translation Pathway with Cell-Free Fetal DNA Testing
• Robert B. Scharpf, Ph.D., Johns Hopkins University, Baltimore, Statistical Methods for Assessing Copy Number Variation in SNP Arrays
• Jennifer Kristin Wagner, Ph.D., University of Pennsylvania, Philadelphia, Multidisciplinary Study of Race Appearance Ancestry Discrimination and Prejudice
• Shuang Wang, Ph.D., University of California at San Diego, Protecting the Privacy of Genomes in Research Studies
• Hao Wu, Ph.D., Children's Hospital Corporation, Boston, Genomic and Functional Analysis of Active DNA Demethlyation in Mammalian Cells
• Jinchuan Xing, Ph.D., Rutgers University, New Brunswick, New Jersey, High-Throughput Mobile Element Genotyping Using Next-Generation Sequencing
• Joon-Ho Yu, Ph.D., University of Washington, Seattle, Returning Exome and Whole Genome Results to Underserved Minority Populations