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 collaborative basic bench research in order to positively impact treatments and potential cures for the entire Rare Disease Community.
Uplifting Athletes has provided more than $620,000 in funding to 34 rare disease researchers through its first five Young Investigator Drafts.
Underrepresented Researchers in Medicine Initiative
In May of 2020, conversations began with industry partners about ways that life sciences can promote diversity, equity, and inclusion in medicine and medical research. The vision and purpose of the URM initiative is to engage with rare disease researchers from underrepresented backgrounds and leverage the mechanism of the Young Investigator Draft to fund and celebrate underrepresented researchers.
2023 Young Investigator Draft Class
Alex Felix
University of Pennsylvania
STXBP1 Foundation View Story
Alex Felix
University of Pennsylvania
STXBP1 FoundationDr. Felix was born and raised in Tarragona, Spain - a port city in northeastern Spain’s Catalonia region. From 2016 to 2021 he performed his doctoral studies at the University of Barcelona under the guidance of Dr. Carlos Ciudad and Dr. Veronica Noe, where Dr. Felix developed therapeutic oligonucleotides for gene silencing applications in cancer, as well as gene correction approaches for rare genetic diseases. After receiving his PhD, Dr. Felix’s interest to work on RNA therapies for rare disorders in a more translational and clinically relevant context prompted him to move to the United States and join the laboratory of Dr. Benjamin Prosser at the University of Pennsylvania as a postdoctoral researcher. He is part of a team that is actively working together to develop and translate novel therapeutic strategies for rare neurodevelopmental disorders, including STXBP1 and SYNGAP1 encephalopathies. Away from the lab, Dr. Felix enjoys hiking, movies, rap music, and video games.
Anna Stepanova
Brain and Mind Research Institute, Weill Cornell Medical College
The Friedreich’s Ataxia Research Alliance View Story
Anna Stepanova
Brain and Mind Research Institute, Weill Cornell Medical College
The Friedreich’s Ataxia Research AllianceDr. Stepanova studied at Lomonosov Moscow State University, received her PhD in Physiology from the Koltzov Institute of Developmental Biology, Moscow, Russia and was a postdoctoral research scientist in Neonatology at the Columbia University Medical Center. Currently Dr. Stepanova is the Research Associate in Neuroscience at Weill Cornell Medical College in New York. Her research focuses on uncovering the elusive link between mitochondria, calcium communication, and heart cells' well-being in patients with Friedreich’s ataxia (FA) to identify novel therapies for cardiomyopathy in FA. She volunteers at one of the biggest public speaking clubs in the New York area, Columbia University Toastmasters Club, and serves as an Area Director at Toastmasters District 46. She helps others master storytelling and fortify leadership through communication and connections. When Dr. Stepanova isn’t at the bench or busy with Toastmasters, you can spot her in a dance studio or Central Park, where she prepares for bike rides like the Bike-A-Thon or rideATAXIA. She enjoys baking and reading memoirs or psychology books.
Christopher Sande
University of Pennsylvania
Team Telomere View Story
Christopher Sande
University of Pennsylvania
Team TelomereDr. Sande graduated from the University of Iowa Medical Center in 2019 and is a resident physician in Anatomic and Clinical Pathology at the Hospital of the University of Pennsylvania. His clinical focus is on pediatric pathology and hematopathology with a special interest in tumor predisposition syndromes. As such, his research is primarily centered in the development and application of diagnostic tools to investigate disease pathophysiology and improve care for patients. He also enjoys teaching trainees and students of all ages, encouraging them to pursue a career in pathology whenever possible. A "former" musician, he enjoys spending his free time making music with his husband, creating various fermented concoctions, and using pen and paper to write long letters to old friends.
Jithma Prasad Abeykoon
Mayo Clinic, MN
ECD Global Alliance View Story
Jithma Prasad Abeykoon
Mayo Clinic, MN
ECD Global AllianceDr. Abeykoon migrated to the United State from Sri Lanka for his higher education, where he obtained his medical education from the University of Kansas and graduated at the top of his class. He is a hematologist and medical oncologist at the department of hematology, Mayo Clinic, MN and currently holds the position of Assistant Professor of Medicine and Oncology and focuses on clinical and translational research in malignant hematology and conducting translational and basic science research in rare hematologic malignancies such as non-Hodgkin lymphoma and Erdheim-Chester disease. Dr. Abeykoon’s passion for his patients led him to receive the Attitude, Commitment, and Excellence in Medicine award all three years during his residency. His ambition is to contribute to science and investigate new treatment strategies in rare hematologic malignancies, with the ultimate goal of becoming an independently funded clinician investigator in translational science, while delivering passionate care to patients.
Kelly Crowe
Xavier University
Neuromuscular Disease Foundation View Story
Kelly Crowe
Xavier University
Neuromuscular Disease FoundationDr. Crowe received her PhD in Molecular Cellular, and Developmental Biology from Ohio State after obtaining her MS in Biology from Missouri State University. She currently is an assistant professor in the Department of Biology at Xavier University in Cincinnati. Her laboratory group focuses on utilizing in-vitro models to develop biomarkers for assessment of gene therapy in GNE myopathy, a disease of progressive muscle wasting. She took over in 2021 as the Associate Director of North Central Region for Sigma Xi, the scientific research honor society and last year received the Sigma Xi Linda H. Mantel Next Generation Women’s Leadership Award, recognizing outstanding service and leadership potential of an early career researcher/scholar. Dr. Crowe is also passionate about engaging in science outreach to the community with the goal of promoting public understanding of scientific research.
Melanie Mumau
University of Pennsylvania
Castleman Disease Collaborative Network View Story
Melanie Mumau
University of Pennsylvania
Castleman Disease Collaborative NetworkDr. Mumau earned her PhD in Microbiology & Immunology from Columbia University before working as a research post-doctoral fellow at the University of Pennsylvania focused on how the immune system regulates the development of different types of blood cells. She currently is a Senior Research Investigator at the Center for Cytokine Storm Treatment & Laboratory (CSTL) at the University of Pennsylvania, and oversees all research related to the translational laboratory. Dr. Mumau is currently working on understanding the mechanisms that drive cytokine storms in Castleman disease, a rare disorder, and developing new treatments for patients. Utilizing patient samples, her research includes developing in-vitro models of Castleman disease to better understand hyperinflammation and to test novel therapeutics. When she’s not in the laboratory, Dr. Mumau enjoys playing soccer, skiing, and making pizza.
Nishanthi Mathiyalagan
Brigham and Women’s Hospital/Harvard Medical School
TANGO2 Research Foundation View Story
Nishanthi Mathiyalagan
Brigham and Women’s Hospital/Harvard Medical School
TANGO2 Research FoundationDr. Mathiyalagan recently joined the lab of Dr. Vandana Gupta, Brigham and Women’s Hospital and Harvard Medical School to investigate the mechanisms underlying genetic neuromuscular diseases. She completed her PhD in developmental genetics at La Trobe University, Australia after getting her Master of Science from University of Madras in Chennai, India in 2017. Dr. Mathiyalagan did her undergraduate work also in Chennai, India at Stella Maris College where she obtained a BS in advanced zoology and biotechnology. Through this work, Dr. Mathiyalagan aims to identify novel therapeutic approaches for the treatment of neuromuscular diseases.
Riley E. Perszyk
Emory University
GRIN2B Foundation View Story
Riley E. Perszyk
Emory University
GRIN2B FoundationDr. Perszyk is doing a collaborative post-doctoral position between Georgia Institute of Technology and Emory University working with Dr. Craig Forest, where he combined his undergraduate and graduate fields of study to work on developing a novel automated patch-clamp electrophysiology system. This system augments traditional electrophysiology rigs to allow for unattended operation, thereby reducing the burden on the experimenter and accelerating data collection. Dr. Perszyk received his BS with highest honors in Mechanical Engineering from Georgia Institute of Technology. He completed his PhD in Pharmacology from Emory University and began studying NMDA receptors. His goals are to determine the fundamental differences in receptor function caused by genetic variants in the GRIN2B gene, which are a component of NMDA receptors, and lead to numerous neurological disorder
Steven Baker
University of Utah
Association for Creatine Deficiencies View Story
Steven Baker
University of Utah
Association for Creatine DeficienciesDr. Baker is a clinical pathologist specializing in transfusion medicine and hemostasis. He completed his MD and PhD training in the combined MSTP at Baylor College of Medicine where his studies focused on Rett syndrome, a rare pediatric neurological disorder. He performed a residency in clinical pathology at Stanford before his instructorship/postdoctoral fellowship and clinical fellowship training in transfusion medicine, also at Stanford. He joined the faculty of the University of Utah Department of Pathology as an Assistant Professor in 2021 and serves as the Associate Medical Director of Transfusion Medicine and is actively involved in the basic science laboratory exploring the metabolism of creatine and the mechanisms of aging. When not in the hospital or laboratory Dr. Baker enjoys hiking, lifting weights in the gym, and spending time with family.
Zain Awamleh
The Hospital for Sick Children
TBRS Community View Story
Zain Awamleh
The Hospital for Sick Children
TBRS CommunityDr. Awamleh is a Postdoctoral Research Fellow at The Hospital for Sick Children in Toronto, Canada. She earned her doctoral degree in biochemistry and developmental biology from Western University in Ontario, Canada in 2019 after receiving her Honors Bachelor’s degree from Western in 2013. Her doctoral research focused on epigenetics of the human placenta associated with maternal and fetal diseases of pregnancy. In late 2019, Dr. Awamleh joined the Department of Genetics and Genome Biology at The Hospital for Sick Children where she is conducting her research under the mentorship of Dr. Rosanna Weksberg, MD PhD with a focus on epigenetics in rare neurodevelopmental syndromes. Away from the lab, Dr. Awamleh enjoys hiking and being outdoors, finds solace in nature and often seeks it.
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Past Draft Classes
2019
Dr. Alberto Japp University of Pennsylvania | Rare Autoimmune Disorders
Castleman Disease Collaborative Network 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
Leukemia Lymphoma Society 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
Project ALS 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. She graduated from the Stanford School of Medicine and her clinical research efforts at Columbia as a genetics counselor and researcher have led to the launch the “ALS Families Project”, which helps individuals with a family history of ALS determine their risk of developing the disease.
Dr. Eugene Hwang Children’s National Medical Center Washington D.C. | Rare Cancers
ABC2 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
Friedrich's Ataxia Research Alliance 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
Out of Sight Faith Foundation 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.
2018
Dr. Aimee Layton Columbia University | Rare Genetics Disorders
Boomer Esiason Foundation 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
ABC2 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. This allows us to collect tissue longitudinally from time of diagnosis, progression/recurrence, and at time of death.
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. His work is nationally recognized and the drug he discovered is in clinical trial phase.
Dr. Emily Lowry Columbia University | Rare Muscular and Neurological Disorders
Project ALS 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
Kidz1stFund 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. Her work in the lab focuses on improved strategies and advancement of therapies for patients.
Dr. Phillip “Jay” Storm Children’s Hospital of Philadelphia | Collaborative Leadership Award
ABC2 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.
2020
Dr. Joshua Brandstadter University of Pennsylvania
Castleman Disease Collaborative Network 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
Cure VCP 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
Malan Syndrome Foundation 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
Team Telomere 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
Oxalosis & Hyperoxaluria Foundation 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
Emily's Entourage 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.
2021
Dr. Ukpong Eyo University of Virginia
SLC6A1 Connect 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.
Dr. Timothy Hines The Jackson Laboratory
Charcot-Marie-Tooth Association 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...
Dr. 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...
Dr. Adele Mossa Icahn School of Medicine at Mount Sinai
DDX3X Foundation 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...
Dr. Neha Nagpal Boston Children’s Hospital
Team Telomere 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 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...
Dr. Sarah Sheppard Children’s Hospital of Philadelphia
LGD Alliance 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...
2022
Dr. Wu Chen Baylor College of Medicine
STXBP1 Foundation Dr. Chen was born and raised in China. From 2008 to 2012 he pursued his research interest under the guidance of Dr. Alan Chiu at Louisiana Tech University. After Dr. Chen received his PhD, he worked with Dr. William Stacey at the University of Michigan in the Department of Neurology. It was during this time that Dr. Chen grew a strong desire to study epilepsy in transgenic mouse models. This propelled him to join Dr. Mingshan Xue’s group at the Baylor College of Medicine for his second postdoc training.
Dr. Karine Doiron CHU Sainte-Justine Research Center, Université de Montréal
TBRS Community Dr. Doiron, Ph.D., is a postdoctoral research fellow in Dr. Serge McGraw’s lab at the Research Center of the Sainte-Justine University Hospital in Montreal. She joined the McGraw lab in September 2019 and is studying developmental epigenetics. Dr. Doiron has established a patient-derived induced pluripotent stem cells and implemented neural differentiation protocols to study the impact of functional heterozygous DNMT3A mutations during brain cell development. Dr. Doiron’s goal is to lay the groundwork for the development of novel therapeutic interventions in Tatton-Brown-Rahman Syndrome research.
Dr. Michael Gonzalez University of Pennsylvania
Castleman Disease Collaborative Network Dr. Gonzalez is the Associate Director of Basic and Translational Research at the Center for Cytokine Storm Treatment and Laboratory (CSTL). He obtained his PhD in Immunology and Infectious Diseases from Washington State University and was a postdoctoral fellow at the Center for Applied Genomics at the Children’s Hospital of Philadelphia (CHOP). In addition to his research role, Dr. Gonzalez also teaches courses at La Salle University and works with a number of volunteer organizations that are focused on increasing diversity in STEM fields. When he isn’t digging into large datasets at CSTL or teaching, Dr. Gonzalez enjoys lifting weights, spending time with his dog Bailey, and reading horror novels.
Dr. Gaurav Goyal University of Alabama at Birmingham
ECD Global Alliance Dr. Goyal was born and raised in a small town in India. He obtained his medical school diploma from Smt. N.H.L. Municipal Medical College in Ahmedabad, India in 2011. He then moved to the United States to complete a residency in Internal Medicine from Creighton University Medical Center in Omaha, Nebraska in 2016. During his residency, Dr. Goyal developed a special interest in hematology-oncology and went on to pursue a fellowship in the same from Mayo Clinic, Rochester, Minnesota from 2016-2019. It was during this fellowship that he developed a unique focus in a rare group of blood diseases called histiocytic disorders, including Erdheim-Chester disease. When he is not working on curing histiocytosis, Dr. Goyal likes to play guitar, read non-fiction books, and meditate.
Dr. Shu-Yi Liao National Jewish Health, Denver
Foundation for Sarcoidosis Research Dr. Liao is a pulmonologist and an assistant professor at the National Jewish Health in Denver, Colorado. He received his MD from National Taiwan University, and earned his MPH and ScD from Harvard School of Public Health. Dr. Liao completed his Internal Medicine residency at the University of California-Riverside and his Pulmonary and Critical Care Medicine fellowship at the University of California-Davis. Dr. Liao joined Dr. Maier’s lab, focusing on the research of sarcoidosis, in 2019. He was the recipient of the Foundation for Sarcoidosis Research fellowship grant for 2020-2022.
Dr. Naomi Dirckx John Hopkins University School of Medicine
TESS Research Foundation Dr. Dirckx studied Biomedical Sciences and completed her PhD at the Catholic University of Leuven (KU Leuven) in Belgium in the lab of Dr. Christa Maes. After her PhD, she moved to Baltimore in 2018 where she started as a Postdoctoral fellow in the lab of Dr. Thomas Clemens, Department of Orthopaedic Surgery, Johns Hopkins University. Dr. Dirckx was awarded with a Young Investigator Award of the American Society of Bone and Mineral Research (ASBMR). Her work involving citrate transporter SLC13A5 has led to a collaboration with TESS Research foundation.
Dr. Maurizio Risolino University of California, San Francisco
T.E.A.M. 4 Travis Dr. Risolino was born and raised in Lagonegro in the south of Italy. At 18 he moved to Napoli, where he spent almost 12 years earning a Master’s and PhD in Cellular and Molecular Biotechnology from the Second University of Naples, Caserta, Italy. From 2012-2014, Dr. Risolino worked as a Research Fellow in Molecular Oncology at the Institute of Genetics and Biophysics, CNR, Naples, Italy. In February 2014, he moved to New York City and joined Dr. Selleri’s Lab as a Postdoctoral Fellow at the Weill Cornell Medical College of Cornell University. In 2015 the laboratory was relocated to the UCSF Department of Orofacial Sciences and Department of Anatomy where Dr. Risolino is currently the Assistant Researcher in the Selleri Lab. This atmosphere will continue to be critical to the development of...
Dr. Sushant Kumar University of Pennsylvania
The Aplastic Anemia and MDS International Foundation Dr. Kumar received his Ph.D. from the Indian Institute of Technology Bombay in Mumbai, India in 2015. In 2021 he joined the laboratory of Dr. Daria Babushok to conduct his postdoctoral research on rare bone marrow failure disorders. In his role he is able to build on recent studies in his mentor’s laboratory to evaluate immune representation of Paroxysmal Nocturnal Hemoglobinuria (PNH), and to understand the mechanisms of PNH emergence. Dr. Kumar’s long-term goal is to become an independent investigator and to apply his research training to solve the challenging scientific problems in rare immune diseases.
Dr. Ji Zha The Children’s Hospital of Philadelphia
Team Telomere Dr. Zha earned her Ph.D. in neuroscience at the University of Miami Miller School of Medicine in 2014 and completed her first postdoctoral training at Drexel University afterwards. She then joined Dr. Timothy Olson’s lab at Children’s Hospital of Philadelphia (CHOP) in 2016 as a postdoctoral fellow initially and is now a senior research associate at the same lab. Her research in Dr. Olson’s lab has led to two first-author articles and one second-author article published in high-impact peer reviewed journals. Dr. Zha also earned the American Society of Hematology (ASH) Abstract Achievement Awards twice in 2017 and 2019.
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