2022 Young Investigator Draft
About Young Investigator Draft
The Young Investigator Draft is the result of Uplifting Athletes’ ongoing commitment to cultivate resources that accelerate scientific advancements for rare disease treatments and potential cures while facilitating the next generation of rare disease researchers.
Young Investigator Draft grants fund research that is collaborative and translational in order to positively impact treatments and potential cures for the entire Rare Disease Community.
Uplifting Athletes has provided more than $300,000 in funding to rare disease researchers through its first three Young Investigator Drafts.
Underrepresented Researchers in Medicine Initiative
The 2021 Young Investigator Draft will mark the first Draft to highlight Uplifting Athletes’ recently introduced Underrepresented Researchers in Medicine (URM) initiative. URM aims to provide opportunities for rare disease researchers from diverse backgrounds, and to celebrate and fund their work through the Draft. Uplifting Athletes aspires to lead the change in representation in medicine and medical research, and help rare disease patients from all walks of life feel represented and inspired by the Young Investigator Draft honorees.
2021 Young Investigator Draft Class
- Dr. Adele Mossa Icahn School of Medicine at Mount Sinai
DDX3X Foundation View StoryDr. Adele Mossa Icahn School of Medicine at Mount Sinai
Dr. Mossa, Ph.D. is a postdoctoral research fellow in the De Rubeis lab at the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai. She has worked on mouse models for rare neurodevelopmental disorders since her undergraduate studies. She joined the De Rubeis lab in July 2020 and is studying the mechanisms of DDX3X syndrome, a rare neurodevelopmental condition affecting predominantly females. Her goal is to lay the groundwork for the development of novel therapeutics for DDX3X syndrome. Prior to joining De Rubeis lab, Dr. Mossa studied mouse models of two rare neurodevelopmental disorders. While in these labs, she discovered fundamental mechanisms underlying two rare diseases and targeted them with pharmacological agents, thus laying the groundwork for new therapeutic avenues.
- Dr. Neha Nagpal Boston Children’s Hospital
Team Telomere View StoryDr. Neha Nagpal Boston Children’s Hospital
Dr. Nagpal received her Ph.D. in Biochemical Engineering and Biotechnology from the Indian Institute of Technology Delhi, India. She joined the Agarwal lab at Boston Children’s Hospital in 2016 where she has been developing small molecule strategies to modulate human telomerase in the rare degenerative disease, dyskeratosis congenita (DC). Her work in the past few years has discovered novel chemicals that have the potential to restore telomere maintenance in stem cells derived from patients with DC. Dr. Nagpal is driven to improve the drug-like properties of these molecules to develop the first systemic treatments for DC, pulmonary fibrosis, and other rare telomere biology diseases.
- Dr. Peter M.J. Quinn Columbia University
Cure Retinal Blindness Foundation View StoryDr. Peter M.J. Quinn Columbia University
Cure Retinal Blindness Foundation
Dr. Quinn, Ph.D. began his scientific career at The University of Manchester and continued his development in the Novel Therapies Division of Manchester-based biotech Epistem. He subsequently undertook a Masters in Molecular Medicine at Brunel University where he fostered a deep enthusiasm for research. After beginning his doctoral studies at Leiden University, Dr. Quinn applied his passion for research to an entirely new domain—he began investigating the pathobiology of inherited retinal dystrophies (IRDs). Following the receipt of his Doctorate, Dr. Quinn joined Drs. Stephen H. Tsang and Irene H. Maumenee’s team at Columbia University in order to continue developing his IRD research. He is developing novel gene-editing and gene-augmentation strategies, in addition to repurposing prior FDA approved drugs. Dr. Quinn plans to begin his own independent academic career as a Principal Investigator, developing novel therapies and elucidating molecular mechanisms of IRDs.
- Dr. Qinglan Ling University of Texas Southwestern
Cure SURF 1 Foundation View StoryDr. Qinglan Ling University of Texas Southwestern
Cure SURF 1 Foundation
Dr. Ling has a keen interest in using cutting-edge genetic tools to develop treatment strategies for human diseases. She earned her Ph.D. in pharmacology from the University of Houston in 2018 where she published three peer-reviewed papers as the first author and received a Future Faculty Fellowship in 2015. Dr. Ling is currently a postdoctoral researcher in the laboratory of Dr. Steven Gray at the University of Texas Southwestern Medical Center. As a postdoc, she has been leading preclinical studies to establish an AAV-based gene therapy strategy for SURF1-related Leigh syndrome, a rare and devastating mitochondrial disease that typically presents in infancy and has no current treatment options. As this work moves into clinical trials, Dr. Ling’s future research endeavors include developing novel gene therapy strategies for mitochondrial diseases and other neurodegenerative diseases using mitochondria as a target.
- Dr. Sarah Sheppard Children’s Hospital of Philadelphia
LGD Alliance View StoryDr. Sarah Sheppard Children’s Hospital of Philadelphia
Dr. Sheppard is an Attending Physician in the Division of Human Genetics and a postdoctoral fellow in the Center for Applied Genomics under the mentorship of Dr. Hakon Hakonarson at the Children’s Hospital of Philadelphia (CHOP). She completed her undergraduate degree at the Massachusetts Institute of Technology, then attained her MD, Ph.D. at the University of Massachusetts Medical School and completed her combined pediatrics and medical genetics residency at CHOP. She is currently completing a master of science in translational research at the University of Pennsylvania. Her translational research focuses on the genetics and potential tailored therapeutics of vascular anomalies. Her accolades include the Children’s Hospital of Philadelphia Distinguished Research Trainee Award (2019) and the Association for Clinical and Translational Sciences Outstanding Postdoctoral Trainee Award (2020).
- Dr. Timothy Hines The Jackson Laboratory
Charcot-Marie-Tooth Association View StoryDr. Timothy Hines The Jackson Laboratory
After completing his undergraduate work at Appalachian State University in 2012, Dr. Hines went to the University of South Carolina where in 2018 he completed his PhD in Biological Sciences. While at South Carolina, Dr. Hines received the Presidential Fellowship, the Sloan Minority Ph.D. Fellowship from the Alfred P. Sloan Foundation, and the Kathryn Hinnant-Johnson Memorial Fellowship for research in the field of genetics. Currently, Dr. Hines is a postdoc at The Jackson Laboratory in Bar Harbor, Maine where he studies the cellular and biochemical mechanisms underlying the rare disorder Charcot-Marie-Tooth disease (CMT), an inherited peripheral neuropathy that causes loss of sensory and motor function. Part of Dr. Hines’ current project was recently funded by NINDS through a Research Supplement to Promote Diversity in Health-Related Research. He is excited to continue growing his expertise in axon biology and to help find treatments for rare diseases.
- Dr. Ukpong Eyo University of Virginia
SLC6A1 Connect View StoryDr. Ukpong Eyo University of Virginia
Dr. Eyo was born in Nigeria and grew up in several different countries. He immigrated to the United States in 2003 to pursue undergraduate studies at Northwest Missouri State University. He then went on to graduate school at the University of Iowa. Following his Ph.D studies, Dr. Eyo joined the lab of Dr. Long-Jun Wu, first at Rutgers University in New Jersey, then at Mayo Clinic in Minnesota to study microglial-neuronal communications. In August 2018, Dr. Eyo started his independent lab in the Department of Neuroscience and the Center for Brain Immunology and Glia (BIG) at the University of Virginia to continue his research on microglia with a focus on the developing brain. Away from the lab, Dr. Eyo enjoys time with his blessed family including his wife, two sons, and daughter.
Hall of Fame
Past Draft Classes
- Dr. Alberto Japp University of Pennsylvania | Rare Autoimmune Disorders
Dr. Japp is a native of Brazil and was fascinated by chemistry and biology at a young age. That love of science led him to chase his dream by leaving his home country after graduating from Universidade Federal do Rio de Janeiro (UFRJ). He moved to Berlin, Germany and received his Master’s degree in Molecular Medicine from Charite and acquired his PhD from Humboldt University of Berlin. His current research is focused on autoimmune disorders and how the body fights infections. This research is also powerful in the fight against cancer.
- Dr. Brian Sworder Stanford University | Rare Blood Disorders
A huge fan of the Los Angeles Dodgers and Los Angeles Lakers, Dr. Sworder is a graduate of UCLA and the Boston University School of Medicine. He is driven by the patients he works with as a clinician on a daily basis and the puzzle of figuring out the science based on what he learns from those patients. It’s why he’s a researcher and a clinician. The same year Dr. Sworder received his grant to focus on research rooted in Lymphoma, he was also part of the team that treated Stanford linebacker and rare disease patient Ryan Beecher - a finalist for the Uplifting Athletes Rare Disease Champion Award.
- Dr. Elizabeth Harrington Columbia University | Rare Genetics Disorders
Dr. Harrington was always interested in science and medicine and as a student-athlete who played soccer at the University of Redlands, she figured sports medicine would be her calling. But after cutting her teeth at the National Institute of Health (NIH) as a researcher, Dr. Harrington knew she wanted research to be part of her professional portfolio.
- Dr. Eugene Hwang Children’s National Medical Center Washington D.C. | Rare Cancers
During his third year of medical school at Duke, Dr. Hwang was drawn to children and he knew his future would include pediatric medicine. He had discovered his passion and purpose. As a clinician/researcher in pediatric neuro-oncology, his research focuses on coming up with ways to create translational findings that the FDA will allow when it comes to pediatric brain cancers.
- Dr. Shana McCormack Children’s Hospital of Philadelphia | Rare Genetics Disorders
Dr. McCormack was an NCAA rowing Champion during her undergraduate years at Harvard who went on to obtain degrees from Harvard Medical School, Massachusetts Institute of Technology and the University of Pennsylvania. Her translational research program has two main areas of focus involving individuals with metabolic disorders and brain disorders associated with excessive weight gain. Dr. McCormack has always been fascinated by the research side of her job, but in the end, helping patients and their families is what drives her.
- Dr. Brenda Gallie Hospital For Sick Children (Toronto) | Collaborative Leadership Award
For nearly five decades Dr. Gallie has been a pioneer and research ambassador for children with retinoblastoma. For her work, she was appointed to the Order of Ontario 2006 and Order of Canada 2014 in recognition of her more than 40 years or research in retinoblastoma. Her tireless pursuit of finding solutions for children diagnosed with retinoblastoma is inspiring. Dr. Gallie’s impact on the rare disease is global and with the help of new technology and continued advances through research she continues to raise the bar and break new ground in the search to find a cure.
- Dr. Aimee Layton Columbia University | Rare Genetics Disorders
Dr. Layton’s research focuses on using exercise to improve patient outcomes and to predict how a patient will respond to certain interventions. Driven to work in a lab by her intrigue for science, Dr. Layton learned early in her career she needed interaction with patients to intertwine her passion and purpose professionally. And, provided the opportunity by her mentor Dr. Bob Garofano, the University of Massachusetts and Columbia University graduate is filling a dual role in the lab as a researcher and using that science to impact patients directly.
- Dr. Angela Waanders Children’s Hospital of Philadelphia | Rare Cancers
Dr. Waanders is a physician-scientist involved in clinical care and research on childhood brain and spinal cord tumors. She serves as the Executive Board Chair for CBTTC, and as the Director of Clinical Research for the Center for Data Driven Discovery in Biomedicine (D3b) at the Children’s Hospital of Philadelphia. Her most recent work launched a national initiative to routinely collect post-mortem brain-tumor tissue, including whole brain and spinal cord.
- Dr. David Fajgenbaum University of Pennsylvania | Rare Autoimmune Disorders
Castleman Disease Collaborative Network
Dr. Fajgenbaum is a rare disease patient who nearly died during medical school. He suffers from Castleman Disease. The former college quarterback is a graduate of Georgetown, Oxford University and the University of Pennsylvania. He discovered a drug in his lab and began testing it on himself and is enjoying a more than five-year remission. The recently published author is at the center of the effort to cure his disease through a research network he founded - Castleman Disease Collaborative Network.
- Dr. Emily Lowry Columbia University | Rare Muscular and Neurological Disorders
Fascinated with neuroscience since the eighth grade when her parents strongly encouraged her to attend summer school for accelerated students and she picked a neuroscience class. Dr. Lowry is a graduate of Barnard College and Rockefeller University and is a researcher at Columbia University with a focus on ALS. The combination of studying the drugs used on patients and how the patients respond to those treatments scientifically drives the native of Northern California. Her love of science, a passion for creativity and compassion for people suffering drives Dr. Lowry.
- Dr. Alessia Stornetta University of Minnesota | Rare Blood Disorders
Dr. Stornetta grew up in Ticino, the Italian-speaking region of Southern Switzerland, and she obtained all her degrees from the Swiss Federal Institute of Technology (ETH) in Zurich. Drawn to the lab by her love of science and the reality that cancer is the largest killer worldwide, Dr. Stornetta’s research is focused on the impact outside agents have on the oral cavity and what natural molecules produced by the body also have on the oral cavity of patients with rare blood disorders.
- Dr. Phillip “Jay” Storm Children’s Hospital of Philadelphia | Collaborative Leadership Award
Dr. Storm is the chief of The Division of Neurosurgery at CHOP, specializing in pediatric brain tumors. The graduate of Wake Forest and Johns Hopkins University has specialized in using his skills as a clinician and a researcher to seek out bold and collaborative new treatments for brain tumors in children. Dr. Storm partners with the Children’s Hospital Research Institute as a leader in pediatric genetic research. Together they are working to develop new treatments that one day will help thousands of children with brain tumors.
- Dr. Joshua Brandstadter University of Pennsylvania
Dr. Brandstadter is a physician-scientist and third-year hematology/oncology fellow at the University of Pennsylvania. He completed a combined MD/Ph.D. at Duke University, MSc at the University of Oxford, and an internal medicine residency at the University of Pennsylvania. His research is focused on uncovering the role of cells that form the walls of the lymph node and spleen (“stroma”) in causing Castleman Disease, a rare disease with no known cause.
- Dr. Cheng Cheng University of California, Irvine
Dr. Cheng’s goal is to become an independent research investigator running a laboratory applying basic science to therapeutic discoveries in the field of neurodevelopmental and neuromuscular disorders. Dr. Cheng received her BA from Knox College where she double majored in Biology and Chemistry and obtained her PhD from Washington University. The current project Dr. Cheng is conducting at the Kimonis laboratory at the University of California-Irvine has significance in gaining insights for therapeutic discoveries for neuromuscular diseases. She is gaining experience in translational research in drug discovery by working with not only research scientists, but also clinicians, patients, pharmaceutical companies and patient advocacy groups.
- Dr. Kathryn Hixson University of North Carolina, Chapel Hill
Dr. Hixson received her B.S. in Neuroscience from Brigham Young University. After graduating cum laude, she sought to understand mechanisms important to subsequent disease treatment by joining the Graduate Program in Neuroscience at Boston University School of Medicine. As a Ph.D. student, Kathryn joined the Lab of Translational Epilepsy and received her Ph.D. in Neuroscience with a specialization in Pharmacology. Dr. Hixson joined the University of North Carolina (UNC) Catalyst for Rare Diseases in July 2019 and is accelerating research and drug discovery in rare disease by performing cutting-edge open science, creating research tools to be shared by all, and uniting the vast number of researchers involved in rare disease research.
- Dr. Abhishek Mangaonkar Mayo Clinic, Rochester Minnesota
Dr. Mangaonkar is a Blood and Marrow Transplant Fellow at the Mayo Clinic in Rochester, Minnesota. He did his undergraduate and graduate work at Grant Medical College and did his residency at the Medical College of Georgia at Augusta University. Early in his fellowship, Dr. Mangaonkar developed an interest to study clinical characteristics, natural history and biology of myeloid neoplasms. In the last two years, he has been involved with the bone marrow failure precision genomics clinic, which is a unique collaboration between clinicians, geneticists, molecular biologists, and bioinformaticians. Dr. Mangaonkar intends to prospectively assess clonal hematopoiesis in patients with short telomere syndromes and provide evidenced-based follow-up and testing guidelines.
- Dr. Jonathan Whittamore University of Florida
Dr. Whittamore began his scientific training with a Bachelor’s degree in zoology, followed by a Master’s in marine biology. Eager to pursue his enthusiasm for research, he was encouraged to embark upon a Ph.D. joining Dr. Rod Wilson’s comparative and integrative physiology laboratory at the University of Exeter. Furthermore, to broaden his knowledge and expertise, aspiring to become an independent investigator and channel his efforts into biomedical research, he was recruited by Dr. Marguerite Hatch at the University of Florida. It is here where Dr. Whittamore was introduced to oxalate transport and the pathophysiology of associated disease states including the rare group of disorders – the Primary Hyperoxalurias.
- Dr. Benjamin Chan Yale University
Dr. Chan and Dr. Turner were selected for the 2020 Uplifting Athletes’ Young Investigator Draft Collaborative Leadership Award in partnership with Emily’s Entourage. Emily’s Entourage accelerates research and drug development for nonsense mutations of Cystic Fibrosis. By providing critical leadership and coordination, Emily’s Entourage drives high-impact research, cultivates multi-stakeholder collaboration, and facilitates information exchange to speed breakthroughs.