2021 Young Investigator Draft

• 
  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.

2019

• 
  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. 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

  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.

2018

• 
  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. 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. David Fajgenbaum University of Pennsylvania | Rare Autoimmune Disorders

  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

  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. 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

  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

  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.

   

  Education

  Dr. Brandstadter did his undergraduate work at Wesleyan University (Connecticut) and graduated in 2006 with a double major in Molecular Biology and Biochemistry, obtained his Master's Degree in Immunology from Oxford University in 2007 and earned his MD/Ph.D. from Duke Medical School in 2015.  Dr. Brandstadter did his residency in general internal medicine at the University of Pennsylvania from 2015-2017 and as a physician-scientist, he is currently in the third year of his hematology/oncology fellowship at Penn.

   

  Research

  Dr. Brandstadter is currently doing research associated with Castleman Disease (CD) a rare, life-threatening illness that is very poorly understood.  Patients become very sick with whole-body inflammation and multi-organ failure that can quickly require ICU-level care.  It often looks like CD patients have lymphoma, a cancer of the white blood cells of the immune system, with large lymph nodes that appear brightly on PET scans.  However, unlike lymphoma, no cancer can be found in any type of white blood cell in CD, stumping doctors as to what could be causing the disease.  Dr. Brandstadter proposes that the cells of the lymph node itself (“stromal cells”) might form inappropriate growths (similar to a polyp in the colon) that cause the characteristic large lymph nodes and whole-body inflammation seen in the disease.  To do this work, he has developed techniques to study these cells in new ways to uncover their role in CD.  Dr. Brandstadter is currently working to establish independence as a physician-scientist, a critical phase where his ability to establish an independent career studying CD will depend upon funding support and critical insights gained from pilot grants such as the Uplifting Athletes Young Investigator Draft.

   

  In Their Words

  “Medicine helps people in the here and now.  You are helping people in a concrete way and you are helping them during a scary time in their lives.  You are able to give them some concrete steps forward and give them the best outcome possible.  Science allows you to re-define what possible is and possibly change the rules about how it’s looked at. You are able to use science to possibly change the big picture for people.  Science is more of a long haul toward really trying to change how the future looks.” – Dr. Joshua Brandstadter

   

  To say Dr. Brandstadter was born into science and education is not a stretch.  The father of two, who married his wife Katelin in 2013 after they met in Medical School at Duke, grew up in Port Washington on Long Island with science and education as modeled behavior.  His parents, Martin and Bonnie, had almost 80 years combined as school teachers in the New York City public schools before retiring.

  During high school, an internship at a biotech lab gave Dr. Brandstadter invaluable exposure to the career path he was going to pursue.  Science was the leader in the clubhouse when he enrolled in college.

   

  “I’ve been in and out of labs since I was a high school student,” said Dr. Brandstadter, who grew up playing ice hockey and is a passionate New York Islanders fan.  “I’ve always been interested in science and science research … learning new things.  I’ve also always loved learning and it’s always been important.  Learning has always been important to me.”

   

  Although science was the direction he was leaning, Dr. Brandstadter still wasn’t ready to fully commit to that path as his definitive future and that is why he went to a liberal arts college for his undergraduate work.  During his time at Wesleyan University, he studied economics and also took a stab at journalism – first as a writer, then eventually as the editor of the school newspaper.

   

  “I definitely looked at other things.  That’s why I went to a liberal arts college, to look at other things",  Dr. Brandstadter said.  “I tested other things and gave them a real try, but science was the first love for me."

   

  “It wasn’t until college where I had an opportunity to volunteer at a hospice and was dealing with end-of-life cancer patients that I discovered my passion for helping patients.”

   

  That is why today, Dr. Brandstadter is a physician-scientist.  His love of science and passion to help others as a physician drives him.

   

  Nomination

  Dr. Brandstadter was nominated for a 2020 Uplifting Athletes’ Young Investigator Draft research grant on behalf of the Castleman’s Disease Collaborative Network (CDCN).  The Castleman Disease Collaborative Network (CDCN) was founded in 2012 by Drs. David Fajgenbaum and Frits van Rhee out of the urgent need to advance research and improve patient care for Castleman disease.  The CDCN is patient-driven and patient-focused and its novel and innovative approach, called the “Collaborative Network Approach”, has become a blueprint for rare disease research, inspiring the Chan Zuckerberg Initiative to select the CDCN as a leading patient-driven rare disease model and partner to spread our approach to other rare diseases.
• 
  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 Ph.D. 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.

   

  Education

  Dr. Cheng received her undergraduate degree from Knox College with a BA in Biology and Chemistry in 2013 and obtained her Ph.D. in Developmental Biology from Washington University in 2018.  Currently, Dr. Cheng works in the laboratory of Dr. Kimonis at UC-Irvine doing post-doctoral research.

   

  Research

  Dr. Cheng is conducting her Ph.D. studies on the pathogenesis of Borjeson-Forssman-Leymann syndrome (BFLS), a rare syndromic form of X-linked intellectual disability.  Using CRISPR/Cas9 technology, her research team has successfully generated and characterized the first rodent model of BFLS.  This work advances understanding of the cellular and molecular underpinnings of BFLS and lays the foundation for potential treatments for neurodevelopmental disorders of cognition.

   

  In the Kimonis lab as a postdoctoral fellow, Dr. Cheng is exploring potential therapeutic strategies for VCP multisystem proteinopathy, a rare neuromuscular disorder.  In particular, she is using small inhibitors to target the gain of function mutations of VCP protein in rodents and other cell models of the VCP disease.  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.

   

  Her interactions with a wide variety of groups have taught Dr. Cheng about rare neuromuscular diseases from different perspectives, allowing her to effectively communicate science to a broad audience.

   

  In Their Words:

  “Growing up in China, they have an interesting system.  In high school, you have to choose a path focused on either science or art classes.  At the time I had to choose, I was pretty good at science stuff.  So my high school was very science-focused.  When I came to the United States, I was inspired by my professors in their passion for research and the research they were doing.  And that inspired me to look harder at research and I enjoy it very much.” – Dr. Cheng Cheng

   

  Originally from the Citroen Province in China, Dr. Cheng came to the United States in 2009 to advance her love for science as a college student.  When she arrived in the US, Dr. Cheng wasn’t exactly sure what her path would be in science, but she was pretty sure she would find something that moved and inspired her.  However, you could say being a research scientist found Dr. Cheng, instead of the other way around.

   

  “When I came to the U.S. I wasn’t sure exactly what in science I would do, but I felt strongly it was the right direction for me,” said Dr. Cheng, who has been married for three years and has a 2-year-old daughter and a 3-month old son.  “I was so inspired by my professors and their passion for research and the research they were doing.  That inspired me to look more closely at research.”

   

  Focused on learning the techniques and details of being a research scientist, Dr. Cheng was drawn to neuroscience while working on her Ph.D.  The chairman of the neuroscience at Washington University was studying rare intellectual neuroscience and Dr. Cheng was drawn to the work.

   

  “When I think about a disease, there are two aspects.  There is the science aspect and the human aspect,” said Dr. Cheng, who has traveled extensively and lists scaling Mount Kilimanjaro in Tanzania as one of her top accomplishments.  “You learn something different from every patient. Science has a process, but you have to learn about the disease from a patient.  That is very important to me.”

   

  After more than a half-decade in labs focused on honing her skills as a research scientist, it is meeting patients and understanding the value of translational science that continues to inspire Dr. Cheng.  The first time Dr. Cheng met an actual patient associated with the research she is working on, she was moved to tears.

   

  Because of her experience and commitment, last year Dr. Cheng was part of the inaugural Cure VCP Disease Patient and Caregiver Conference in St. Louis.

   

  “The work we are doing is for patients with a very rare disease,” Dr. Cheng said.  “We are doing more translational research and get to interact with the patient community.  That is very important to me.”

   

  Nomination

  Dr. Cheng was nominated for a 2020 Uplifting Athletes’ Young Investigator Draft research grant on behalf of Cure VCP Disease. Formed in 2018, Cure VCP Disease was formed to drive efforts to cure diseases related to mutations of the Valosin Containing Protein gene by providing global education and awareness of VCP diseases to doctors, researchers, patients, caregivers, investors, and the general public.
• 
  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.

   

  Education

  Dr. Hixson graduated cum laude from Brigham Young University (BYU) with a BS in Neuroscience in 2011 and received her Ph.D. in Neuroscience from Boston University School of Medicine in 2019.

   

  Research

  Dr. Hixson is studying Malan Syndrome, a rare genetic disease that was identified in 2010.  It currently affects 150 patients worldwide with diagnoses occurring so rapidly that it is likely the disease is much less rare than we know.  Symptoms include seizures, craniofacial features, musculoskeletal abnormalities, and intellectual disability.  The only treatments available are merely supportive and treat individual disease symptoms separately due to our poor understanding of what causes the disease.  Dr. Hixson’s research intends to reveal, not only what is causing Malan Syndrome, but novel ways to treat it that may ultimately lead to a cure.  In order to accomplish this, Dr. Hixson will create a stem cell line with the gene mutation that patients have, then characterize what is disrupted in those cells.  Then she will perform a drug screen to find novel therapeutic options that will correct the abnormalities in the stem cells and, hopefully, one day in human patients as well.

   

  In Their Words

  “I always liked science growing up.  I knew going into college that I wanted to be a scientist, but I had not decided on neuroscience at that point.  My dad pointed out that neuroscience was a very cool field and was exploding at the time.  I took an introduction to the neuroscience course and that led me down this path.  The other part of it, my two grandfathers suffered from Alzheimer’s Disease and Parkinson Syndrome, so they affected our entire family.  So there was also a personal connection aspect of it for me.” – Dr. Kathryn Hixson

   

  Growing up in Logan, Utah, Dr. Hixson always had a love for science and knew fairly early that was the career path she wanted to pursue.  What the competitive swimmer growing up didn’t know was whether she wanted to take the medical doctor route or Ph.D. path and work in a research lab.

   

  It was a toss-up going into her freshman year at BYU, but time was on her side. Then Dr. Hixson attended a freshman orientation session and it illuminated the path she really wanted to pursue.

   

  “It was my first week of college, and a professor that was running the orientation said the perception is Ph.D. scientists don’t have as much of an impact because they aren’t at the bedside dealing with the diseases,” said Dr. Hixson, who is married with a 4-year-old son and their second child, a daughter, is due in April.  “I remember him telling us that Ph.D. scientists and the work they are doing is helping tens of thousands.  That made me understand better the path I wanted to follow.”

   

  After graduating from BYU, where she did a mission trip to Argentina for 18 months, Dr. Hixson set out to pursue her Ph.D. in neuroscience.

   

  Dr. Hixson’s passion for the brain was driven by her family being impacted by each of her grandfathers battling a neurological disorder and, generally, the complexity of the brain itself.  And that led her to Boston – a city she had always dreamed about living in – and an investment of eight years obtaining her Ph.D. from the Boston School of Medicine.

   

  “My Dad (Russell Price) kind of suggesting neuroscience started the clock ticking,” said Dr. Hixson, who is one of five children, is a passionate cake decorator, and enjoys competing in triathletes.  “By the time I was taking the introduction course, I knew this was what I was going to do.  It was an amazing organ that controls everything that we do.  The range of the brain was fascinating to me." 

   

  “Today we have so many more treatments and we can do so much to limit the impact of neurological disorders.  We are able to make a patient's lifestyle better.  The old thinking for neurological disorders was to help them out until they eventually die.  That seems like a tragic diagnosis for me to hear.  We are learning more about understanding the diseases that are mostly understood and can treat them.”

   

  Nomination

  Dr. Hixson was nominated for a 2020 Uplifting Athletes’ Young Investigator Draft research grant on behalf of the Malan Syndrome Foundation. The Malan Syndrome Foundation was co-founded in 2018 by four moms looking to raise awareness, grow the community, and increase understanding of Malan syndrome. The Malan Syndrome Foundation provides a broad network of support to Malan patients, their family members, caregivers, and healthcare professionals through the Foundation’s website, social media platforms, newsletters, and family conferences. The Foundation is committed to identifying the best research approaches for improved patient care so that all affected individuals have the opportunities and support necessary for full, happy lives.
• 
  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.

  Education

  Dr. Mangaonkar graduated from Grant Medical College in Mumbai, India with a Bachelor of Medicine and a Bachelor of Surgery; was a resident physician in internal medicine from 2013-2016 and since July of 2016, has worked as a Blood and Marrow Transplant Fellow (PGY-7) at the Mayo Clinic in Rochester, Minnesota.

  Research

  Dr. Mangaonkar's research interest is to study clinical and biologic aspects of inherited bone marrow failure syndromes, including telomere disorders, and mechanisms of clonal evolution/progression into myeloid neoplasms.  Early in his fellowship, after encountering a challenging patient scenario, he developed an interest in studying clinical characteristics, natural history, and the biology of myeloid neoplasms.  This research led to several first-authored publications and a competitive external foundation (American Society of Clinical Oncology) Young Investigator Award and Grant.  For the last two years, Dr. Mangaonkar has been involved with the bone marrow failure precision genomics clinic, which is a unique collaboration between clinicians, geneticists, molecular biologists, and bioinformaticians.

  In Their Words

  “I was always interested in research from when I was in Medical School and also in my residency training when I first started working in the lab.  That led me to see myself as a more hybrid physician-scientist.  I knew it would be difficult, but I am on the path now and that’s what I’m actively working toward.  As I finish up my clinical training, I plan to apply for a full research position.  I want to obtain some mentor training for a few years and hopefully, open my own lab in 3-4 years from now where I can focus on being a physician-scientist with a focus on rare blood disorders.” - Dr. Abhishek Mangaonkar

  
  A native of Mumbai (formerly Bombay), India, Dr. Mangaonkar spent the first six years of his medical training in his native country at Grant Medical College.  By the time he was done with his initial medical training, Dr. Mangaonkar knew what he wanted. And it was not going to be an easy path, either.  Dr. Mangaonkar wanted to be a physician-scientist.  Growing up he always wanted to be a physician.  That was the easy part. What he discovered during his initial medical schooling was the scientist's side of the industry was very appealing.  And in order to get the best training and education available in the world, he knew to stay in India was not the best option.

  
  “There are two main reasons, but the most important was I wanted to train as a physician-scientist and the United States is the best place for that training,” said Dr. Mangaonkar, an only child who considers himself a big fan of cricket.  “The training in hematology and oncology was not as developed as much in India back in 2013 when I finished school.  That’s why I decided to come here.  Those are the two main reasons.  Most importantly, I wanted to be a physician-scientist.”

  
  Already a hematologist-oncologist, Dr. Mangaonkar is now training to become a bone marrow transplant specialist as well.  Despite his intense fire and passion as a researcher, being a physician and helping patients – what drove him to choose his career path – still has the most impact.

  
  “I deal with a lot of patients with rare cancers and rare diseases.  These are life-defining illnesses,” said Dr. Mangaonkar, who met his fiancé, Jennifer Pierce, in Minnesota and is getting married later this year.  “We are not able to change all the outcomes with treatments and we know that.  You build long-lasting bonds with patients, though, and we are with them in their most difficult times."

  
  
  “It is important to me that you learn from every patient.  Through trying to help them and learning, that helps you in the lab on the research side.  They feed into each other and that’s why being a physician-scientist, despite it becoming more difficult to complete the training today, is so important to me.”

  
  Watch his engaging video and sample Dr. Mangaonkar’s passion for research and his drive to use science as part of the equation for the disease puzzles he’s working to solve.

   

  Nomination

  Dr. Mangaonkar was nominated for a 2020 Uplifting Athletes’ Young Investigator Draft grant on behalf of Team Telomere.  The mission of Team Telomere is to provide information and support services to families worldwide affected by Dyskeratosis Congenita and Telomere Biology Disorders, to encourage the medical community’s research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.
• 
  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. 

   

  Education

  Dr. Whittamore received his Bachelor’s degree in Zoology from John Moores University in Liverpool in 2000 and completed his Master’s in Marine Biology from the University of Wales, Bangor in 2003.  He obtained his PhD in comparative and integrative physiology at the University of Exeter in 2009.

   

  Research

  Dr. Whittamore’s research is centered on the Primary Hyperoxalurias, a group of rare genetic diseases that cause defects in key enzymes leading to increased oxalate production by the liver.  These conditions result in persistent hyperoxaluria (elevated levels of oxalate in the urine) and, as a consequence, recurrent kidney stone formation.  Progressive kidney failure ensues accompanied by severe damage to other organs from the deposition of oxalate.  The goal of this project is to understand how this excess oxalate is being transported out of the liver by describing, for the first time, the cellular mechanism(s) responsible and resolving the molecular identity of the proteins involved.

   

  In Their Words

  “I didn’t set out to go into biomedical research.  When I got the opportunity to go to University I was only focused on what I was interested in.  I was always interested in natural history, dinosaurs, sharks etc.  I always got along well with biology in school.  So I went into zoology when I first went to University.  In my final year I had to do a project where you had to do a research element and I absolutely loved it.  That started me down a path I’m on today, but I didn’t know it at the time.” – Dr. Jonathan Whittamore

   

  Born and raised in Derby, England, Dr. Whittamore grew up wanting to do the one thing plenty of young lads in the United Kingdom dream of – playing football (soccer) professionally.  He tells the story today about his passion for football and how it so consumed him during his teenage years that literally nothing else mattered.  Including his education.  In his words “school was simply something I had to do so I could play football.”

   

  His passion and love for the game took its toll, though, and he admits his education suffered.  The price he paid was steep, but when reality hit and being a professional football player was off the table, Dr. Whittamore went to work.  To say that his path to becoming a highly respected researcher was unconventional is a valid statement instead of just a common phrase.

   

  “It wasn’t by design, I can certainly tell you that,” said Dr. Whittamore, who is a naturalized citizen of the United States with a son in middle school.  “When I was working on my PhD, I really had this desire to want my work to have more purpose.  Up until that point I had been doing what was of interest to me.  Where I am today certainly was not by design.”

   

  His narrow focus on football only forced Dr. Whittamore to retake his A Levels – the equivalent of a high school diploma in the United Kingdom – and find a job.  Since his father, and his father before him, each had long careers working for Royal Mail, Dr. Whittamore spent two years following in their footsteps.

   

  “I worked at Royal Mail for two years, met a lot of guys who only wanted to work for Royal Mail for a couple years and 10-20 years later they are still there in the same job,” Dr. Whittamore said.  “And I saw that and knew I couldn’t do that.  There had to be something more for me.  That was when I decided to start down my journey in science because it was what I was interested in.”

   

  During his schooling in zoology and marine biology, it was the research part of science that most intrigued and inspired Dr. Whittamore.  After seven years in the lab at Exeter obtaining his PhD, he knew it was time to look in a different direction.  He wanted to work with new people, learn new techniques and skills in the lab.  After marrying an American, Dr. Whittamore knew his wife was keen on returning to the United States.

   

  Pouring over job openings, Dr. Whittamore was intrigued by the research being conducted in the lab at the University of Florida (UF).  So he blindly applied for the job based on the ad without knowing anything about the team at UF led, by now mentor, by Dr. Marguerite Hatch.  Dr. Whittamore simply thought he was a good fit.

   

  “I knew nothing of my mentor now.  I applied simply based on the ad.  I was drawn to the ad and captivated by it,” Dr. Whittamore said.  “We use very traditional and old-school techniques, but they are still relevant today and are powerful tools to answer the questions of today.  I feel strongly we are helping people and doing a lot of good.”

   

  Nomination

  Dr. Whittamore was nominated for a 2020 Uplifting Athletes’ Young Investigator Draft research grant on behalf of the Oxalosis & Hyperoxaluria Foundation (OHF). The Oxalosis & Hyperoxaluria Foundation (OHF) is dedicated to finding treatments and a cure for all forms of hyperoxaluria. OHF supports thousands of healthcare professionals, patients, and their families, and we aim to share our knowledge so that everyone has accurate information about the advances in this disease. OHF is a donor-funded nonprofit, spending 90 percent of every dollar raised on research and programs for our community.