Executive Director Rob Long chosen by NORD as 2021 Rare Impact Award honoree

Uplifting Athletes Executive Director Rob Long has been chosen as a 2021 Rare Impact Award honoree by the National Organization for Rare Disorders (NORD).

The Rare Impact Awards celebrate the individuals, groups and companies making extraordinary strides on behalf of the millions of Americans impacted by rare disease.

“Despite the pandemic and the challenges we have faced, there are still heroes to be found among us from whom we can draw inspiration and motivation to keep moving forward,” said NORD President and CEO Peter L. Saltonstall. “At NORD, we are proud to honor these people, groups and companies for their achievements. We’re humbled to work alongside them and appreciative of their tenacity and commitment to a brighter future for our community.”

Rob and the rest of the 2021 honorees will be celebrated on June 28 during a live streaming event that starts at 7:00 p.m. EST.

Rob is a rare disease patient who had his life turned upside down more than a decade ago when he was diagnosed with a rare and aggressive form of brain cancer called anaplastic astrocytoma. His prognosis at the time was less than encouraging, and his surgery, recovery and treatment took 16 months. An All-American punter at Syracuse, Rob was on a path to the NFL when he was diagnosed and lost out on that opportunity.

After joining Uplifting Athletes in 2016, Rob took over as the second Executive Director in the organization’s history late in 2018. In his more than two years as the Executive Director, Rob has advanced the impact Uplifting Athletes has on the Rare Disease Community significantly on two fronts. 

First, as a patient, he has the perspective that allows the organization to actively use their resources to engage with patients, families and caregivers on a deeper level to inspire them with hope.

Secondly, he has been largely responsible for expanding Uplifting Athletes’ commitment to funding research through the Young Investigator Draft. When Rob took over as Executive Director, the Young Investigator Draft was just getting started. Because of Rob’s unique and personal experience as a patient himself, he has charted a new and innovative way to support rare disease research.

Under Rob’s guidance, Uplifting Athletes has provided more than $300,000 in funding to 18 different rare disease researchers through its first three Young Investigator Drafts. From year No. 1 to year No. 2 the amount of each individual grant doubled, and in 2021 the organization committed to expand the number of grants it provides and established the Underrepresented Researchers in Medicine initiative to ensure underrepresented minority researchers are funded and celebrated through the Young Investigator Draft.

The Rare Impact Awards program is part of the Living Rare, Living Stronger NORD Patient and Family Forum, an annual conference that brings patients and families, advocates, health care professionals and other supporters together for learning, sharing and connecting.

Rare Disease Research Uplifting Athletes helped fund translating to support COVID-19 fight

Pictured above are University of Pennsylvania researchers Dr. Alberto Japp, ’20 Young Investigator Draft Class (second from left) and Dr. David Fajgenbaum, ’18 Young Investigator Draft Class (third from left). 

We are discovering more every day about the vital role rare disease research plays, not only for those affected by rare diseases, but also for those impacted by more common illnesses as well.

Translational and collaborative research Uplifting Athletes helped fund through its Young Investigator Draft is impacting Castleman Disease patients and provides relative science for COVID-19 patients.

Researchers at the Perelman School of Medicine at the University of Pennsylvania, home of the Castleman Disease Collaborative Network (CDCN), recently announced they know what’s happening at the cellular level of the immune system when cytokine storms occur, and the answer not only informs future potential Castleman therapies, but may also provide new insight into why similar events take place in COVID-19 patients.

The researchers recently published their findings in the Journal of Clinical Investigation Insight.

“This is why we launched the Young Investigator Draft initiative. We wanted to elevate and fund these incredible researchers to allow them to do what they do best, use the power of science to change the lives of those in the rare disease community we serve,” Uplifting Athletes Executive Director Rob Long said. “We always understood the potential of what could be unlocked by supporting rare disease research. But we were thrilled to learn of the impact that this research was having during the COVID-19 pandemic.

“We are proud to support the incredible researchers at the Castleman Disease Collaborative led by Dr. David Fajgenbaum through the Young Investigator Draft.”  

Uplifting Athletes established the Young Investigator Draft to fund bright young investigative researchers performing collaborative and translational research in order to positively impact treatments and potential cures for the entire Rare Disease Community.

Dr. David Fajgenbaum is the senior author of the study and was part of the inaugural Young Investigator Draft class in 2018. Fajgenbaum is the Executive Director of the Center for Study & Treatment of Lymphadenopathies & Cytokine Storms, assistant professor of Translational Medicine and Human Genetics, Executive Director of the Castleman Disease Collaborative Network (CDCN), and a Castleman patient himself.

“With iMCD, just as with COVID-19, it is the body’s hyper-response that’s deadly rather than the disease itself, and this study gives us new clues about why the immune cells are out of control and what we can do to rein them in,” Dr. Fajgenbaum said.

He also says he hopes this work will prompt others in the field to consider different ways to approach the cytokine storms COVID-19 patients are experiencing. A provisional patent has been filed for a new treatment approach involving inhibition of JAK based on this work.

The published study was funded by the CDCN, the National Heart, Lung, and Blood Institute, the Hematologic Malignancies Translational Center of Excellence of the Abramson Cancer Center and Uplifting Athletes.

Learn what partner organization Horizon Therapeutics is doing to help combat COVID-19

Uplifting Athletes is honored to enjoy a fruitful and expanding partnership with Chicago-based Horizon Therapeutics.

Horizon has been a believer in our innovative way to fund rare disease research since the beginning, supporting all three years of the Young Investigator Draft. Their commitment to the Rare Disease Community, rare disease research and our initiative to fund up and coming young investigative researchers has helped spark growth around the event.

Horizon’s commitment to Uplifting Athletes climbed to another level earlier this year when a partnership was formed involving Uplifting Athletes’ Reps For Rare Diseases Program and Horizon’s #RAREis initiative. Horizon sponsored the program and committed up to $35,000 in a dollar-for-dollar match and in return its #RAREis program was exposed to a new audience.

In this time of a world pandemic, many in the Rare Disease Community are doing their very best to support the patients and families that make up one of the most vulnerable populations impacted by  COVID-19 or the novel coronavirus.

We are proud of our corporate partner, Horizon Therapeutics, for their commitment to others during this time of need by donating $1.5 million to COVID-19 response efforts in Illinois and other impacted U.S. and global communities.

Those dollars will support residents who need access to critical services such as emergency food and basic supplies, interim housing and shelter and primary health care services.

Horizon is focused on researching, developing and commercializing medicines that address critical needs for people impacted by rare and rheumatic diseases. 

Thank you to the 2020 Sponsors that power Uplifting Athletes’ Young Investigator Draft

Uplifting Athletes is excited to host the 3rd Annual Young Investigator Draft Presented by CSL Behring on Saturday, March 7th at Lincoln Financial Field, home of the NFL’s Philadelphia Eagles.

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. The Young Investigator Draft stage provides a platform to celebrate these scientists, the impact they are having and the importance of their research.

It takes a strong team to make the Young Investigator Draft a success, and we are grateful and proud of the 15 major sponsors on our team in 2020.

“The support that we have received for this event has worked to amplify and instill more purpose in what we do on a day-to-day basis,” Uplifting Athletes Executive Director Rob Long said. “We have great passion to do all we can to have a positive and lasting effect on the Rare Disease Community. Without this event and its sponsors our impact wouldn’t be the same.”

For the third year in a row, global biotherapeutics leader CSL Behring is the presenting sponsor of the Young Investigator Draft. Their commitment as the signature sponsor has been a game changer. 

CSL Behring is a global biotherapeutics leader driven by its promise to save lives. Focused on serving patients’ needs by using the latest technologies, we develop and deliver innovative therapies that are used to treat coagulation disorders, primary immune deficiencies, hereditary angioedema, respiratory disease, and neurological disorders.

This is the third year Sanofi-Genzyme has been a teammate. This year, Sanofi-Genzyme is a Hall of Fame sponsor. At Sanofi-Genzyme, they continue to focus on being transformative in rare diseases: developing therapies, supporting research and offering innovative solutions that have the potential to offer meaningful change to those impacted by rare diseases.

PRA Health Sciences has been a strong three-year supporter of Uplifting Athletes and the Young Investigator Draft. For 2020, PRA Health Sciences is on board as an All-Pro sponsor. PRA Health Sciences is dedicated to the future of clinical development and every life it saves.

Horizon Pharma was one of the first sponsors of the Young Investigator Draft and we are honored to have them back in year No. 3 as an All-Conference level sponsor. Horizon Pharma defines its success by a different set of numbers: the number of lives touched, the number of lives changed, the number of lives saved.

For the third year in a row Retrophin is part of the Young Investigator Draft team. At Retrophin, their mission is to identify, develop and deliver life-changing therapies to people living with rare diseases.

Spark Therapeutics was the very first sponsor of the Young Investigator Draft and we will always be grateful for their commitment to rare disease research through our event. At Spark Therapeutics their mission is to challenge the inevitability of genetic disease by discovering, developing and delivering treatments in ways unimaginable – until now.

We Work For Health (WWFH) is in its third year as a sponsor and has been a strong teammate. We Work For Health is supported by PhRMA and seeks to educate elected leaders, the news media and the communities they serve about the important contributions companies and their employees make to the health and economic security of individuals, local communities, states and the nation.

Amicus Therapeutics has been on the Young Investigator Draft sponsorship team since the beginning. Amicus is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering high-quality medicines for people living with rare metabolic diseases.

Ultragenyx first joined our team as a rookie sponsor of the Young Investigator Draft in 2019 and is back again. Ultragenyx is a biopharmaceutical company committed to bringing to patients novel products for the treatment of rare and ultra-rare diseases, with a focus on serious, debilitating genetic diseases.

Uplifting Athletes would like to welcome six new organizations to our Young Investigator Draft sponsorship team. Takeda, PhRMA, Ovid, Synteract, Parexel and Mallinckrodt are each 2020 rookie sponsors.

Takeda is a 2020 MVP sponsor and this patient-focused, values-based, R&D-driven global biopharmaceutical company is committed to bringing Better Health and a Brighter Future to people worldwide. Their passion and pursuit of potentially life-changing treatments for patients are deeply rooted in over 230 years of distinguished history in Japan.

PhRMA joins our team also as an MVP sponsor this year. PhRMA represents the country’s leading innovative biopharmaceutical research companies, which are devoted to discovering and developing medicines that enable patients to live longer, healthier and more productive lives. PhRMA is committed to advancing public policies in the United States and around the world that support innovative medical research, yield progress for patients today and provide hope for the treatments and cures of tomorrow.

At Ovid Therapeutics, innovations come from the heart. They listen to the needs of the rare disease communities in every element of their work. With deep professional expertise in rare disease therapeutic development and commercialization, Ovid makes those innovations a reality for individuals with rare neurological diseases and their families.

Synteract is a full-service CRO that focuses on bringing clinical trials to life. Synteract is focused on supporting innovation in drug development and advancement of better therapies in healthcare to improve patients’ lives.

Parexel is in the business of improving the world’s health. Parexel does this by providing a suite of biopharmaceutical services that help clients across the globe transform scientific discoveries into new treatments. From clinical trials to regulatory, consulting, and market access, their therapeutic, technical, and functional ability is underpinned by a deep conviction in what they do.

Mallinckrodt is a multibillion dollar specialty pharmaceutical company focused on our mission: Managing Complexity. Improving Lives. Mallinckrodt provides medicines to address unmet patient needs, stemming from 150 years of using their unique strengths, experience and expertise to help improve people’s lives.

“After the great success of the first two years of the Young Investigator Draft, we are proud to once again use our platform to promote and support the brilliant minds that are conducting rare disease research.” Long said. “We are uniquely positioned to host an event where we can foster collaboration and awareness by bringing together patients, caregivers, researchers, clinicians, industry and athletes in one room.”

Uplifting Athletes has provided more than $180,000 in funding to rare disease researchers through its first two Young Investigator Drafts.

Tickets to the 2020 Young Investigator Draft are available through the registration page. The event will include stadium tours of Lincoln Financial Field, heavy hors d’oeuvres and beer and wine prior to the program for the evening.

The challenges faced by the Rare Disease Community are bigger than any one individual, team or organization can tackle alone. At Uplifting Athletes we take pride in fulfilling our mission to inspire the Rare Disease Community with hope through the power of sport with a powerful network of more than 20 college football student-athlete led chapters, Uplifting Ambassadors and Team UA participants.

Meet 2020 Uplifting Athletes Young Investigator Draft presented by CSL Behring Collaborative Leadership Award recipient Dr. Benjamin Chan

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.

To learn more about the 2020 Young Investigator Draft presented by CSL Behring and to purchase tickets click here.

Researcher: Dr. Benjamin Chan

Mentor: Dr. Paul Turner

Young Investigator Institution: Yale University

Education: Dr. Chan spent five years at the University of Utah obtaining his undergraduate degree in Behavioral Biology before obtaining his PhD in Microbiology in 2008. After working at the University of Utah hospital as a scientist, Dr. Chan landed a position in the Turner Lab at Yale University in 2013 and is currently an Associate Research Scientist in the department of Ecology and Evolutionary Biology.  

Research: In the Turner Lab at Yale University, Dr. Chan works on using phage to treat bacterial infections. This is known as phage therapy. Since the discovery of bacteriophages over 100 years ago, there have been numerous attempts at using them in the clinic to treat bacterial infections. A lot of this work took place in the former Soviet Union and was largely ignored by the West as we developed and deployed highly effective (at the time) broad spectrum antibiotics. However, as the effectiveness of these antibiotics decreases, we are once again considering phages as a potential therapeutic. A lot has changed and science has advanced significantly since the initial discovery allowing our team to better understand bacteria-phage interactions which should enable us to deploy them more successfully. For example, we now have the tools to identify what surface expressed proteins or sugars particular phage are using to adsorb to their bacterial hosts. This is a critical piece of information that’s essential when designing a treatment plan. We can also characterize, at the molecular level, the ways in which bacteria evolve resistance to phage infection, allowing us to predict, and capitalize upon, what will happen during the course of therapy.

In Their Words: “When it comes to Paul as a mentor in the lab, what stands out first and foremost is his science. His science is simply amazing. He is very approachable and you can ask him anything. He doesn’t have an ego. Paul is genuinely a friendly and happy guy.”

A native of Seattle who spent most of his life in Salt Lake City, Dr. Chan was interested in being a scientist since he was in kindergarten. When asked if ever considered anything else, Dr. Chan’s simple answer was an emphatic “no”.

“I’m your classic case of one of my parents brought home a microscope when I was very young and it was game over. I was hooked,” Dr. Chan said. “It has always been all about science and medicine for me.”

Research scientists are problem solvers and explorers and usually possess an adventurous spirit when it comes to their work. They have to be great thinkers and detail oriented at the same time, but also not be afraid to fail.

And as they hone their craft and a niche inside the vast world of science and research, working alongside a mentor that brings out the best in them as scientists can be a difference maker.

For young investigator research scientists like Dr. Chan, when he decided to make his move it was all about the lab mentor and the science that was being done in that lab.

For him the lab at the top of his list was Dr. Paul Turner’s at Yale University.

“As a scientist you look around and ask around and talk to people. You put together a list and shop around. It’s a competitive process. Working in Paul’s lab with him was at the top of my list,” said Dr. Chan, who has how many? children and is scheduled to marry his fiancé, Joanna Bingham, in England later this year. “The science being done in his lab is amazing, like I said. But it’s Paul the person that sealed it for me. It was a combination of both the science and the person that brought me to the frozen Northeast from Utah.”

After working in Dr. Turner’s lab for nearly seven years, Dr. Chan has discovered that science is extremely important. But it’s the group of people that Dr. Turner assembles together that is the real difference maker.

“I’ve learned from Paul that you have to have a really nice team around you. The right people really does matter,” Dr. Chan said. “He understands that when you have that right group of people, you can do some really cool work.”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.

Meet 2020 Uplifting Athletes Young Investigator Draft presented by CSL Behring research grant recipient Dr. Jonathan Whittamore

The Young Investigator Draft presented by CSL Behring 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.

To learn more about the 2020 Young Investigator Draft and to purchase tickets click here.

Researcher: Dr. Jonathan Whittamore

Young Investigator Institution: University of Florida

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.

Dr. Whittamore 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 Dr. Whittamore’s path to becoming a highly respected researcher was an unconventional path 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.”

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.

Meet 2020 Uplifting Athletes Young Investigator Draft presented by CSL Behring research grant recipient Dr. Kathryn Hixson

The Young Investigator Draft presented by CSL Behring 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.

Learn more about the 2020 Young Investigator Draft and purchase tickets click here.

Researcher: Dr. Kathryn Hixson

Young Investigator Institution: University of North Carolina at Chapel Hill Catalyst for Rare Diseases

Education: Dr. Hixson graduated cum laude from Brigham Young University (BYU) with a BS in Neuroscience in 2011 and received her PhD 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 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 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 PhD 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 PhD 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 PhD 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 PhD 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 PhD 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 patients’ 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.”

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.

Meet 2020 Uplifting Athletes Young Investigator Draft presented by CSL Behring research grant recipient Dr. Joshua Brandstadter

The Young Investigator Draft presented by CSL Behring 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.

To learn more about the 2020 Young Investigator Draft and to purchase tickets click here.

Researcher: Dr. Joshua Brandstadter

Young Investigator Institution: University of Pennsylvania

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 Masters Degree in Immunology from Oxford University in 2007 and earned his MD/PhD from Duke Medical School in 2015. Dr. Brandstadter did his residency in general internal medicine at 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, Dr. Brandstadter 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.

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 selected the CDCN as a leading patient-driven rare disease model and partner to spread our approach to other rare diseases.

Meet 2020 Uplifting Athletes Young Investigator Draft presented by CSL Behring research grant recipient Dr. Cheng Cheng

The Young Investigator Draft presented by CSL Behring 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.

To learn more about the 2020 Young Investigator Draft and to purchase tickets click here.

Researcher: Dr. Cheng Cheng

Young Investigator Institution: University of California, Irvine

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

Research: Dr. Cheng is conducting her PhD 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 has 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 came to the U.S., 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.

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 PhD. 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 humanity 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. The 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.”

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.

Young Investigator Research Grant produces exciting and award winning results for rare disease patients

2018 Young Investigator Draft grant recipient Aimee Layton (left).

Two years ago, when Uplifting Athletes handed out rare disease research grants at its first Young Investigator Draft presented by CSL Behring, Dr. Aimee Layton from Columbia University was one of the recipients in the first draft class.

In the nearly 18 months since the execution of that rare disease research grant, Dr. Layton used a portion of this early stage research funding to institute a fresh approach to an already existing program for extremely sick patients battling Cystic Fibrosis (CF) – a rare genetic disorder that affects multiple organ systems.

Dr. Layton came up with an idea to use an app on your phone to encourage patients to participate in an eight week exercise program. The main focus was a new take on a pre-lung transplant pulmonary program that increased the patient’s chances of a stronger recovery following the transplant.

“Of the patients who completed the study, one told her transplant doctor that the work ‘changed my life.’ He hugged me when he told me this,” Dr. Layton said. “So thank you to Uplifting Athletes, because this couldn’t have been done without the Young Investigator Draft Grant.

“These patients are very sick so they can’t go to a gym like most people but they could use the app at home. What gave me the idea to use an app was patients don’t want to be treated like they are sick. They just want to be treated like everyone else. In the medical field we sometimes forget to not always focus on the disease, but instead focus on the people.”

Once patients started signing up for the new pulmonary program, something unusual started happening. Not only were most patients completing the eight-week exercise program, some were even signing up to pay for the app on their own so they could continue.

“It’s huge that they want to exercise and help themselves. It’s hard to convince them to do this because they are afraid to exercise,” Dr. Layton said. “The instructors on the app are very motivating and it motivates the patients. Exercise has to be fun because, by nature, it’s painful. And this made it entertaining for them.”

All the patients were not finished with the program, and a few were still in the pipeline to get started, but Dr. Layton and her team turned the scientific data gathered from the study over to Andrew Irwin, one of the medical students in the Columbia lab. He was the first author for the research side of this new approach to a program that already existed.

Irwin, a second-year medical student who studied kinesiology as an undergraduate, spent three years as a personal trainer and obtained a masters degree in Global Health, assembled all the scientific research at his disposal for a presentation at the American College of Sports Medicine (ACSM) regional chapter in New York as part of the research competition.

Andrew Irwin (left) and Dr. Aimee Layton at the American College of Sports Medicine (ASCM) regional chapter research competition.

The data used for the competition was still preliminary as the program is still not complete. So Dr. Layton made sure expectations were tempered for how the study would fair in a competitive research environment.

Irwin presented his study at the regional conference and the judges were impressed enough with preliminary data to award the Columbia University study first place.

“I didn’t have too high of hopes at the regional level because all the patients had not finished the new program, so our report was only based on only preliminary results,” Dr. Layton said. “The judges went crazy for it, though. So we have a few more patients we need to get through the program in the next two months and then we can complete this study and go from there. This is all very exciting for everyone involved.”

Irwin will gather all the remaining data possible to present a completed study at the ACSM’s National Conference President’s Cup research competition in May.

Helping rare disease patients with CF increase their chances of a recovery after their lung transplant is always the goal.  Finding a new approach to an already existing program that is motivating these patients to complete, and in some cases continue on their own, is pivotal. Plus winning a competition based on the initial scientific data from the program shows the potential of a research team with the funding to try something different. 

If you would like to meet the 2020 Young Investigator Draft Class, Uplifting Athletes will host its 3rd Annual Young Investigator Draft presented by CSL Behring on Saturday, March 7th at Lincoln Financial Field, home of the Philadelphia Eagles. To attend the 2020 Young Investigator Draft, purchase your tickets here.