Young Investigator Draft

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  Dr. Alberto Japp Rare Autoimmune Disorders | University of Pennsylvania

  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.

  Read their Uplifting Story here!

2019

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  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.

  Read their Uplifting Story here!
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  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. 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.

  Read their Uplifting Story here!
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  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.

  Read their Uplifting Story here!
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  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.

  Read their Uplifting Story here!
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  Dr. Brenda Gallie Collaborative Leadership Award | Hospital For Sick Children (Toronto)

  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.

  Read their Uplifting Story here!

2018

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  Dr. Aimee Layton Rare Genetics Disorders | Columbia University

  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.

  Read their Uplifting Story here!
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  Dr. Angela Waanders Rare Cancers | Children’s Hospital of Philadelphia

  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.

  Read their Uplifting Story here!
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  Dr. David Fajgenbaum 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. Read their Uplifting Story here!
• 
  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.

  Read their Uplifting Story here!
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  Dr. Alessia Stornetta Rare Blood Disorders | University of Minnesota

  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.

  Read their Uplifting Story here!
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  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.

  Read their Uplifting Story here!

2020

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  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.

  Read their Uplifting Story here!
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  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.

  Read their Uplifting Story here!
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  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. 

  Read their Uplifting Story here!
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  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.

  Read their Uplifting Story here!
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  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. 

  Read their Uplifting Story here!