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. 

Learn what partner organization Castleman Disease Collaborative Network is doing to help combat Covid-19

Uplifting Athletes values its relationship with Dr. David Fajgenbaum and the organization he founded, the Castleman Disease Collaborative Network (CDCN). It started when Uplifting Athletes’ founder, Scott Shirley, and Dr. Fajgenbaum crossed paths for the first time eight years ago.

The developing relationship has always featured two different paths, but with the common goal of serving the Rare Disease Community and looking for avenues to join forces in order to strengthen our common bond of supporting the community we serve.

Dr. Fajgenbaum was instrumental in  helping to guide Uplifting Athletes’ research commitment of funding individual researchers through our Young Investigator Draft. He was selected to be part of the first draft class in 2018 and, based on the caliber of research conducted in the CDCN lab, Uplifting Athletes has partnered with the CDCN to fund one of its qualified young investigators all three years the event’s been held.

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.

Dr. Fajgenbaum, a highly respected clinician, researcher and author, and his organization are focusing their resources in the hopes of finding a way to repurpose FDA approved therapies to fight back against the spread of the novel coronavirus. In this time of global need, CDCN is shifting gears and using the methods it developed to fight Castleman’s Disease to attack COVID-19.

Uplifting Athletes is proud to share the following excerpt posted by the CDCN on what their team, led by Dr. Fajgenbaum, is doing in response to this pandemic.

When fighting a war, information really matters. You need to know what weapons have been tried and which ones have been most (and least) effective. 

This information helps soldiers to adjust their strategy. The same holds true when fighting a global war against a disease like COVID-19 (or Castleman disease or any disease!). We need to know what drugs have been tried and which ones have worked, so doctors can adjust their treatment strategies. 

Unfortunately, there isn’t a central database to track drugs used for diseases. Instead, thousands of individual case reports and studies are published, each describing a few treatments in a few patients. Some of these drugs originally developed for other conditions that are being repurposed for use in this new condition may be the answer we’re all looking for, but the data aren’t centralized or searchable.

Following the path we blazed in fighting Castleman disease, we decided to assemble a team to read every published COVID-19 paper and extract data on every treatment that has been given to a COVID-19 patient. We set the ambitious goal for our 10 member team to read all 1,000 published papers in 10 days.

The number of COVID-19 papers soon exploded to over 2,000, but thankfully 20 more volunteers joined our team! In 12 days, we read 2,482 COVID-19 articles (1,786 on PubMed, 696 on pre-published Archives) and extracted data on 100-plus drugs used in 5,000-plus patients from 159 papers (and a MD/med student audited every data point).

Now, any physician or researcher in the world can access this open-source database.

And Sheila Pierson, a data scientist in the CDCN lab, is leading the effort to analyze the data to gain insights on which drugs seem to have the clearest benefit for patients.

Stony Brook Chapter seventh annual Lift For Life to help Tackle Rare Diseases set for March 8th

The Stony Brook Chapter of Uplifting Athletes will hold its annual Lift For Life to support the Rare Disease Community on Sunday, March 8th.

Lift For Life is the signature fundraising event for the Stony Brook Chapter of Uplifting Athletes. Stony Brook is a part of Uplifting Athletes’ nationwide network of chapters led by college football student-athletes.

Each chapter embraces the mission of Uplifting Athletes by using college football as a platform to inspire the Rare Disease Community with hope through the power of sport.

The 2020 Stony Brook Chapter Lift For Life will be a competition featuring a medicine ball toss competition between six football student-athlete led fundraising teams.

Fans and supporters can pledge every yard of the longest medicine ball toss for each team. So choose your favorite team comprised of Seawolves players and visit the Stony Brook Chapter Lift For Life fundraising page to pledge now! You can also make a flat donation to any team.

The proceeds from the 2020 Stony Brook Chapter Lift For Life support the mission of Uplifting Athletes and its charitable programs: Rare Disease Awareness, Rare Disease Research, Uplifting Experiences and Uplifting Leaders.

Today, the challenges faced by the Rare Disease Community are bigger than any one individual, team or organization can tackle alone. The Stony Brook Chapter, along with a nationwide network of teams, is uniquely positioned to educate and engage the local community to shine a spotlight on rare diseases.

The Stony Brook Chapter started tackling rare diseases in 2014 when it joined Uplifting Athletes. Their inspiration comes from the long-term relationship between Seawolves head football coach Chuck Priore and a rare disease patient, Joey Ferminella. That relationship between our program and Joey continues to serve as an inspiration for all of us.

Please support the Stony Brook Chapter and help the Seawolves reach their impressive $6,000 team Lift For Life goal.

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.