Rare Disease Community takes over Lincoln Financial Field at 2nd Uplifting Athletes Young Investigator Draft


2019 Young Investigator Draft grant recipients (left to right): Dr. Alberto Japp, Dr. Eugene Hwang, Dr. Shana McCormack, Dr. Elizabeth Harrington, Dr. Brian Sworder and Dr. Brenda Gallie.

Lincoln Financial Field in Philadelphia experienced a Rare Disease Community takeover Saturday night when Uplifting Athletes hosted its 2nd Young Investigator Draft presented by CSL Behring.

And the spotlight at The Linc – home to the NFL’s Philadelphia Eagles – was on the six rare disease research grant recipients drafted by our priority partners to become part of the Uplifting Athletes team.

“We could not of been more excited how the event came together, and what an amazing turnout we had for year two of this event,” Uplifting Athletes Executive Director Rob Long said. “We take pride in our ability to bring together doctors, patients, young investigative researchers, industry partners, rare disease advocates and athletes all together in one room. Each group was well represented.”

Similar to the NFL Draft where teams select the top young prospects they feel can make the most impact on their future, at the Young Investigator Draft, Uplifting Athletes celebrated its 2019 draft class in five different rare disease categories.

The evening started with a social hour that included one-of-a-kind stadium tours of Lincoln Financial Field.

Then it was time to kick off the 2019 Young Investigator Draft and hand out some authentic draft jerseys to research scientists in five rare disease categories: rare cancers, rare autoimmune and immunological disorders, rare blood disorders, rare genetic disorders and rare muscular and neurological disorders.

The 2019 Young Investigator Draft class includes Dr. Shana McCormack, Dr. Elizabeth Harrington, Dr. Alberto Japp, Dr. Eugene Hwang and Dr. Brian Sworder.

Several of the grant recipients said the process of being drafted was a “first” for them and despite being briefed and told how the evening would unfold they said there were no words that fully prepared them for the energy and excitement the evening created.

Young Investigator Draft grants are intended to inspire collaborative and translational research that will benefit the entire Rare Disease Community. The Young Investigator Draft stage provided each doctor a platform to educate and inspire by sharing their research along with its impact on the Rare Disease Community.

The drafted grant recipients were chosen by this year’s priority partners: Accelerate Brain Cancer Cure, Castleman Disease Collaborative Network, Friedreich’s Ataxia Research Alliance, Leukemia Lymphoma Society and Project ALS.

Each priority partner had a guest presenter make the selection. The 2019 list of guest presenters included Kyle Bryant, BethAnn Telford, Dr. David Fajgenbaum, Malik Turner and Adam Breneman.

After draft emcee Stephanie Stahl, a health reporter for media sponsor CBS 3 of Philadelphia, closed the draft it was time for a couple special presentations.

Dr. Brenda Gallie of Children’s Hospital in Toronto received the Uplifting Athletes Young Investigator Draft Collaborative Leadership Award for her decades of commitment to eradicating the rare eye disease retinoblastoma.

She was introduced via video by former USC long snapper and 2016 Uplifting Athletes Rare Disease Champion Award winner Jake Olson, who is legally blind after losing both is eyes to retinoblastoma.

To bring down the curtain on the evening, the 11th winner of the Uplifting Athletes Rare Disease Champion Award, University of Kansas football coach Joshua Eargle, took the stage and delivered a moving and inspirational speech.

Coach Eargle shared the story of his family and their rare disease journey with their daughter Landrey. For nearly six years the Eargle’s stayed quiet about their struggles with the extremely rare diagnosis for Landry.

After sharing their story publicly for the first time in 2019, doors and avenues have opened they never imagined. This has inspired Coach Eargle and his wife Kristen and made them even stronger advocates for the Rare Disease Community.

Uplifting Athletes would like to thank everyone who attended our 2nd Young Investigator Draft and a special thanks to all of our sponsors for making this unique approach to rare disease research possible.

In addition to CSL Behring as our presenting sponsor, Sanofi Genzyme, Horizon, PRA Health Sciences, Retrophin, Bristol-Myers Squibb, Spark Therapeutics, Strongbridge BioPharama, Amicus Therapeutics, We Work For Health (WWFH) and Ultragenyx all contributed to the success of the 2019 Young Investigator Draft.

“It took a lot of teammates who believe in the mission of Uplifting Athletes and have passion for the rare disease cause to make all this happen,” Long said. “The fact that our priority partners joined us in co-funding each grant recipient so that we could direct more than $120,000 directly to the young investigator rare disease researchers to be used at their discretion to support their research is a game changer.”

44 NFL prospects join 2019 Reps For Rare Diseases campaign for NFL Pro Day workouts


For the fifth consecutive year, Uplifting Athletes is empowering NFL prospects with the opportunity to use their NFL Pro Day as a platform to give back by raising funds and awareness in support of the Rare Disease Community.

The Reps For Rare Diseases Campaign is one of the first opportunities for these athletes to create an impact using their platform as professional athletes. Uplifting Athletes is excited to work with these outstanding individuals to help them give back during this very pivotal time of their lives.

This year Uplifting Athletes currently has 44 players who chose to participate in Reps For Rare Diseases 2019 as part of their NFL Pro Day workout.

“We would like to thank all the athletes participating in Reps For Rare Diseases and wish all of our participants the best of luck in the pursuit of their professional careers,” Uplifting Athletes Director of Sports Impact and NFL veteran Brett Brackett said. “We believe this is a special group that stands out for the right reasons amongst their peers. Any NFL team would be lucky to have one of these men representing their organization.”

The Uplifting Athletes 2019 Reps For Rare Diseases Pro Day Team is comprised from 18 different college football programs.

Clayton Thorson, Flynn Nagel, Jake Collins, Blake Hance, Jordan Thompson, Jared McGee and Tommy Doles all hail from Northwestern. Representing NC State are A.J. Cole, Terronne Prescod, Steph Louis and Reggie Gallaspy, Jr. From Penn State its Koa Farmer, Nick Scott, Kyle Vasey and Jake Cooper. And Tyler Newsome, Miles Boykin, Julian Love, Sam Mustipher, Nic Weishar and Justin Yoon from Notre Dame.

The quartet from Princeton includes John Lovett, Cody Smith, Steve Carlson and Charlie Volker. Maryland has Brendan Moore and Ty Johnson. Representing Georgia Tech are Kyle Cerge-Henderson and Andrew Marshall, while Eric Dungey and Kielan Whitner come from Syracuse.

Alec Eberle and Derrick Kelly II come out of Florida State and Antonio Jackson and Lawrence Menyah played for Fordham.

Other schools representatives include: Nick Allegretti from Illinois, Clemson’s Milan Richard, Chris Myarick of Temple, Jon Reschke from Michigan State, Nick Giorgio of Springfield, Kansas’ Mavin Saunders, Jamauri Bogan of Western Michigan and Craig Reynolds from Kutztown.

Fans and supporters can become teammates of any one of our NFL Pro Day participants this year and help Uplifting Athletes Tackle Rare Diseases by simply making a pledge for every bench press repetition or each vertical/broad jump inch the player achieves.

Visit the Uplifting Athletes Reps For Rare Diseases 2019 team landing page, choose your favorite player and make your pledge today.

The proceeds from Reps For Rare Diseases support the mission of Uplifting Athletes and its charitable programs: Rare Disease Awareness, Rare Disease Research, Uplifting Experiences and Uplifting Leaders.

The first Reps For Rare Diseases campaign was run by former Penn State and current Detroit Lions tight end Jesse James.

Since James launched this program in 2015 other current NFL veterans such as Justin Watson (Tampa Bay Buccaneers), Jason Cabinda (Oakland Raiders), Justin Jackson (San Diego Chargers), Mike McGlinchey (San Francisco 49ers), Mike Gesicki (Miami Dolphins), Josh Adams (Philadelphia Eagles), Malik Turner (Seattle Seahawks), Grant Haley (New York Giants), Anthony Zettel (Cleveland Browns), Andrew Billings (Cincinnati Bengals), Garrett Sickels (Los Angeles Rams), and Chad Kanoff (Arizona Cardinals) have used Reps For Rare Diseases as a platform to support the Rare Disease Community.

“Uplifting Athletes prides itself in helping athletes realize their potential to make a positive impact on the Rare Disease Community. Our Reps for Rare Diseases campaign is another unique example of this,” Brackett said.

Stony Brook Chapter announces annual Lift For Life to help inspire the Rare Disease Community set for March 15


The Stony Brook Chapter of Uplifting Athletes will hold its annual Lift For Life to support the Rare Disease Community on Friday, March 15th

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.

“Lift for Life and Uplifting Athletes is what college football is all about, being apart of something that is bigger than ourselves,” Stony Brook Chapter leaders Zach Lucas and Joe Detorie said. “Our program is humbled and honored to be able to inspire hope within the Rare Disease Community.”

The 2019 Stony Brook Chapter Lift For Life will be a workout competition featuring four fundraising teams. The event is private this year.

Fans and supporters can select one of the four teams and make a pledge for each yard of that particular team’s furthest medicine ball toss. So find your favorite 2019 Stony Brook player on any of the four Seawolves’ Lift For Life teams and support them by visiting the Stony Brook 2019 Lift For Life fundraising page. You can also make a flat donation to any team.

The proceeds from our 2019 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 the Seawolves head football coach Chuck Priore and a rare disease patient, Joey Ferminella. That relationship between the Stony Brook football program and Joey continues to be an inspiration for all of us.

Please support the Stony Brook Chapter and help the 2019 Seawolves reach their impressive $8,000 team Lift For Life goal.

Dr. Shana McCormack to receive Rare Genetic Disorders research grant at 2019 Young Investigator Draft presented by CSL Behring


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.

These Young Investigators will pursue rare disease research in one of five different areas: rare cancers, rare autoimmune and immunological disorders, rare blood disorders, rare genetic disorders and rare muscular and neurological disorders.

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

Researcher: Dr. Shana McCormack

Category: Rare Genetics Disorders

Education: Dr. McCormack started her education at Harvard where she studied biochemistry. She obtained her MD from Harvard Medical School and Massachusetts Institute of Technology, did her internship and residency in pediatrics at Massachusetts General Hospital in Boston. Dr. McCormack did her fellowship in pediatric endocrinology at Children’s Hospital Boston completed her education with a Master of Science in Translational Research (MTR) from the University of Pennsylvania Perelman School of Medicine. Currently, Dr. McCormack is an attending physician and Scientific Director of the Neuroendocrine Center in the Division of Endocrinology and Diabetes at Children’s Hospital of Philadelphia (CHOP). She also serves as a member of the clinical research team for Mitochondrial Medicine at CHOP.

Research: As a physician-scientist, Dr. McCormack investigates the neuroendocrine systems that regulate energy balance in humans. Her translational research program has two main areas of focus. First, she studies individuals with metabolic disorders with characterized by risk for diabetes mellitus, including primary mitochondrial diseases, Friedreich’s ataxia, and lipodystrophy. Second, she focuses on brain disorders associated with excess weight gain, including brain-tumor related hypothalamic obesity syndrome and pseudotumor cerebri syndrome/idiopathic intracranial hypertension.

In Their Words: “I have always enjoyed athletics, science and helping people. My mom is a nurse and my dad is an engineer. So it was fairly well laid out for me. I was an athlete in college and played sports in college. So exercise was always important to me. When you think about exercise and assess its value, exercise is very compelling the impact it can have. And now I’m working on projects that bring me back to that. There’s a lot of collaboration and we are finding a lot of cross-pollination and it’s very exciting because we are all looking for ways to help people. I feel very grateful to be sitting at this nexus of opportunity.” – Dr. Shana McCormack

Dr. Shana McCormack has a very busy life with a husband who is a surgeon-scientist, two kids under the age of 10 and her own diverse career as a physician-scientist.

A lot of time is dedicated to being Dr. McCormack and mom. The family loves to be outdoors and hike together. But anybody who’s ever been a parent to a 9 and 7-year-old can attest to what that crazy day-to-day schedule looks like.

Just talking to Dr. McCormack, though, you can tell she’s very passionate and inspired by the work she does. The scientific side she called “fascinating” but in the end she said the key is a strong desire to help people.

Her work recently has taken her down a path where exercise is part of a scientific equation and it has brought along a little nostalgia to her days at Harvard as a student-athlete.

Dr. McCormack held down position No. 7 on the Harvard 1997 Intercollegiate Rowing Association National Championship winning women’s light rowing crew. And as she told the story of that team and winning it all, she noted most of her fellow crew members on that team are either physicians or scientists or have sports and athletics involved in what they do professionally.

“We all are busy and I certainly have enough to keep me busy on any given day,” Dr. McCormack said. “I love my kids and they are so much fun. I love they are both interested in science. But as I talk about rowing and winning a national championship I know it’s something I want to get back into. So this summer I’m going to get back into rowing.”

Dr. Brenda Gallie to receive Collaborative Leadership Research Grant at 2019 Young Investigator Draft presented by CSL Behring


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.

These Young Investigators will pursue rare disease research in one of five different areas: rare cancers, rare autoimmune and immunological disorders, rare blood disorders, rare genetic disorders and rare muscular and neurological disorders.

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

Researcher: Dr. Brenda Gallie

Category: Collaborative Leadership Research Grant

Education: Dr. Brenda Gallie, a native of Canada, started her education at Queen’s University in Kingston, Ontario in the pre-med program and received her MD as well. She did her residency at the University of Toronto and her post-graduate research training at Memorial Sloan-Kettering Cancer Center where she began her research on the rare disease retinoblastoma. Currently, Dr. Gallie is President of the International Retinoblastoma Consortium, Director of the Retinoblastoma Program at the Hospital for Sick Children, Paediatric Ocular Oncologist at Calgary Children’s Hospital, Professor at the University of Toronto, and Adjunct Scientist and Lead of Health Informatics Research in the University Health Network TECHNA Institute.

Research: The Gallie Lab under the direction of Dr. Brenda Gallie has been focused on all aspects of the rare disease retinoblastoma. Dr. Gallie has developed a highly sensitive and cost effective methodology for identification of retinoblastoma (RB) gene mutations at The Hospital for Sick Children and has demonstrated a beneficial impact on health care quality and economy. This work has achieved the only efficient and sensitive test for RB mutations in the world. Ongoing basic research studies address the molecular basis for the retinal tissue specificity of induction of cancer by RB mutation. These studies in retinoblastoma tumors have defined the major mechanisms of multidrug resistance of the tumors. In response, Dr. Gallie and her collaborator Dr. Helen Chan developed a chemotherapy modification which has resulted in the best-yet success to save eyes with retinoblastoma. This world leadership in retinoblastoma has led Dr. Gallie to design, with the American College of Surgeons Oncology Group, a randomized clinical trial to test the components of this protocol.

In Their Words: “I worked on a case in 1973 and we had an opportunity to present that case to the city rounds. So I went to the Toronto Library and discovered a paper published in 1971 from a pediatrician who loved numbers. He had a 25-child sample and from those pure numbers he found there was only one thing in the cancer that allowed these children to have bi-lateral retinoblastoma. He figured all this out with a pencil. No fancy stuff just plain clinical research. And when I read that I knew this was what I wanted to do the rest of my life.” – Dr. Brenda Gallie

Dr. Brenda Gallie and her research partner Dr. Nancy Olivieri (left).

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.

The mother of two daughters and four grandchildren loves the outdoors and even sleeps in a clear glass bubble outside at her home in Toronto so she look up at the stars and still have that feeling of being outdoors. She also has a very deep passion for horses and owns a stable about 45 minutes outside of Toronto.

Her tireless pursuit of finding solutions for children diagnosed with retinoblastoma is inspiring. Her 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.

“I mean there is an awful lot of collaborating along the way to make anything positive happen. It takes a lot,” Dr. Gallie said. “When you break it down some of the stuff we have done with science might seem scary when you start working with children. But none of it has been scary to me because I know the science.

“A lot has changed in science since I started but to me it’s still the same principle. All I’ve ever done is gather all the science we possibly could and then figure out how to apply it to people.”

Dr. Eugene Hwang to receive Rare Cancers research grant at 2019 Young Investigator Draft presented by CSL Behring


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.

These Young Investigators will pursue rare disease research in one of five different areas: rare cancers, rare autoimmune and immunological disorders, rare blood disorders, rare genetic disorders and rare muscular and neurological disorders.

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

Researcher: Dr. Eugene Hwang

Category: Rare Cancers

Education: Dr. Hwang started his education with an undergraduate degree in cell and molecular biology from Rice University. He went to medical school at Duke University where he obtained his MD. Dr. Hwang did his residency in pediatrics at Brown University’s Hasbro Children’s Hospital, returned to Duke University for his fellowship in pediatric hematology-oncology and was the Chief Fellow his final year. Dr. Hwang’s final post-graduate training was also at Duke University in pediatric neuro-oncology. He is currently a pediatric neuro-oncologist at the Children’s National Medical Center and cares for children with brain tumors.

Research: In Dr. Wang’s words this is his focus when it comes to research “I’m a clinical/researcher and I’m thinking and designing on the translational side for that make sense to me and what the FDA and governing bodies will allow. We open research to single hospitals or groups of hospitals. The hospital I’m at now has become a leader for pediatric brain cancer. Through that vain we are able to propose and run through the same consortium. There’s always a lot of rationale to choose the drugs we are going to test. Pediatric brain cancer funding is limited, so these are all clinical trails. There are a lot of collaborations, but in many ways it what we are trying to accomplish to find what helps to make a difference with children. I need to know cutting edge to know what is going on with science and with the treatment of patients. Sometimes it’s hard to get researchers and doctors together to make it meaningful to everyone. I can dialogue with both sides of the equation and it’s proven helpful.”

During his third year of medical school, Dr. Hwang was drawn to children and he knew his future would include pediatric medicine. He had discovered his passion and purpose.

Science and medicine wasn’t necessarily his first love. For Dr. Hwang, who grew up in Texas and is the father of two daughters, it was a process.

His first love was literature and for the first half of college he was fairly certain he was going to be a writer. And even today he says that would have been a fulfilling career.

Science was always something that came easy for Dr. Hwang growing up, but it was a process for him to let go of his first love – literature and writing – and commit to a career path of making a difference in the lives of others.

“There’s something special about when a child is sick as compared to an adult. There’s something moving about a family coming around a sick child. The intense emotional energy around a kid who is sick moves me,” said Dr. Hwang, who added he chose to focus on the brain because it remains such a mystery and has always been the most intriguing. “I love that fight that mobilizes immediately when it’s your child or a loved ones child. It was just an easy step to brain cancer for me because I was already drawn to the brain. The survival for pediatric brain cancer is still not great, so the way I see it there are the biggest gains to be made going forward.”

A big fan of the outdoors, including being “great at fly fishing”, Dr. Hwang is also a huge fan of Duke University basketball. Did he paint himself in blue and white and attend Blue Devils games as a Cameron Crazy during his five years at Duke? Of course was his answer.

Dr. Hwang also enjoys photography old-school style, including the magic that comes when working in a darkroom.

But making a difference by helping children with brain tumors is what has made Dr. Hwang one of the very best in his field.

In an article published online by connectionasco.org last November entitled “I Live to Conquer Cancer,” Dr. Hwang laid out what motivates him today as a clinician/researcher.

“I have attended end-of-treatment parties where I finally see the true breadth of the threads that tie all of us together; I have spoken at standing room-only funerals where sorrow and remembrance permeate because of the loss of a child, decades too early,” he wrote. And, at every step of the way, I am continually reminded of why I cannot stop working in this field.

“I am honored and grateful that I have the chance to meet these tiny (and not-so-tiny) warriors, that each family pulls me into the inner sanctum of their loved ones, and that in some small way, I can provide hope for every child.”

Dr. Alberto Japp to receive Rare Autoimmune and Immunological Disorders research grant at 2019 Young Investigator Draft presented by CSL Behring


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.

These Young Investigators will pursue rare disease research in one of five different areas: rare cancers, rare autoimmune and immunological disorders, rare blood disorders, rare genetic disorders and rare muscular and neurological disorders.

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

Researcher: Dr. Alberto Japp

Category: Rare Autoimmune and Immunological Disorders

Education: Dr. Japp is a native of Brazil and went to Universidade Federal do Rio de Janeiro (UFRJ) for his undergraduate work and obtained a Bachelor’s Degree in Pharmacy. He then moved to Berlin, Germany and received his Master’s degree in Molecular Medicine from Charite. Dr. Japp stayed in Berlin and attended Humboldt University of Berlin where he obtained his Doctor of Philosophy – PhD, Biology, Immunology. His currently a Postdoctoral Fellow at the University of Pennsylvania as a postdoctoral researcher in immunology.

Research: According to Dr. Japp his research is focused on autoimmune disorders and how the body fights infections and this research is also powerful against cancer. My work here is focused on the de-regulation, how the immune system harms the body in different diseases including Castleman’s Disease and Type 1 diabetes. By studying the underlying mechanisms of the immune system we can learn more about the way to treat and cure these diseases. My work here is focused on human diseases exclusively. Research is also done on animals, but the work I do exclusively human research.

In Their Words: ““Doing research in different countries has been an amazing experience. Each country has a different style. In Germany, I have acquired huge technical skills and learned to be organized. In the U.S., I have learned to communicate with other researchers and apply those skills in highly collaborative projects. The excitement around research here in the U.S. motivates me to be more daring and try new and exciting things.” – Dr. Alberto Japp

Dr. Alberto Japp grew up in Rio de Janeiro in Brazil as the middle child with a brother and sister. He was always fascinated by science growing up – particularly biology and chemistry – and that led him to make a bold decision to leave his home country and family to learn more about how the body works.

He spent nearly a decade in Germany and he loved living in Berlin and furthering his education and abilities as a scientist but he was drawn to expanding his base of knowledge as a research scientist.

“I really enjoyed Berlin and was very happy there, but I had an opportunity to learn more and having another opportunity in science here in the U.S. fascinated me,” Dr. Japp said. “I really wanted to continue doing research and the U.S. is one of the biggest biomedical research centers in the world. My mentor in Germany knew the person who would be my mentor here in the U.S. and both thought it would be perfect because of my interest in immunology research.”

Dr. Japp’s wife Seda came to the United States six months early to get them set up. But For nearly two years Dr. Japp has been working in a collaborative and innovative setting doing cutting edge research.

“The environment at Penn is amazing. It has so many research groups using a lot of techniques and there’s a lot of interaction and collaboration with the groups here,” Dr. Japp said. “When I got here I met Dr. David Fajgenbaum and we started working together and it’s been amazing.

“Castleman’s Disease, being a rare disease, it’s hard to find samples to study. I hadn’t heard of the disease before this. But I learned about it and David has all the samples here at Penn for us to study. There’s so much interesting data to study and we’ve pursued it and are making some really interesting progress.”