2018 Uplifting Athletes Young Investigator Draft at Lincoln Financial Field is on the clock


CSL BEHRING YID 18 GRAPHICUplifting Athletes is set to host its inaugural Young Investigator Draft presented by CSL Behring this Saturday, August 18, from 6-9 p.m. at Lincoln Financial Field in Philadelphia.

The Young Investigator Draft, tying the theme of the NFL Draft and Rare Disease Research together, 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.

Uplifting Athletes is proud to have the support of global biotechnology leader CSL Behring as our title sponsor.

Saturday night inside the home of the Super Bowl Champion Philadelphia Eagles, Uplifting Athletes will award six individual $10,000 grants to five Young Investigators and a mentor who pursue rare disease research in these five different areas: rare cancers, rare autoimmune and immunological disorders, rare blood disorders, rare genetic disorders and rare muscular and neurological disorders.

The 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 will provide a platform for these young scientists to educate and inspire the audience by sharing their research along with its impact on the Rare Disease Community.

Jordan Culbreath is a former Princeton running diagnosed with the rare blood disorder aplastic anemia in 2009. The 2011 Uplifting Athletes Rare Disease Champion will serve at the Keynote Speaker for the evening.

Meet and learn a little about the people that comprise the 2018 Uplifting Athletes Young Investigator Draft class.

Dr. David Fajgenbaum, rare autoimmune and immunological disorders

Dr. Emily Lowry, rare muscular and neurological disorders

Dr. Alessia Stornetta, rare blood disorders

Dr. Angela Waanders, rare cancers

Dr. Aimee Layton, rare genetic disorders

 

 

Syracuse Chapter President Sam Heckel using his rare disease journey with TTP to inspire others


RARE DISEASE SPOTLIGHT GRAPHICThere are more than 7,000 rare diseases but we are one Rare Disease Community. Regularly, Uplifting Athletes will put one rare disease center stage to give that disease and its community a chance to shine.

Rare Disease: Thrombotic Thrombocytopenic Purpura (TTP)

Brief Description: Thrombotic thrombocytopenia purpura (TTP) is a rare and serious blood disease. The consistent symptoms may include a severe decrease in the number of blood platelets, abnormal destruction of red blood cells and disturbances in the nervous system and other organs occur as a result of small clots that form in the smallest arteries. The exact cause of TTP is unknown. It is generally believed that there is an acquired, or non-inherited, form of TTP and a familial form. The acquired form may appear later in life, in late childhood or adulthood, and affected individuals may have a single episode or recurring episodes. This is referred to as immune mediated TTP. If the disorder is present at birth, or familial form, signs and symptoms may typically appear in infancy or early childhood. This is referred to as congenital TTP. The most recent data suggests the rate of occurrence for TTP is about 3.7 cases per million people annually, and two-thirds of individuals with TTP are women. The most common occurrence is in individuals between the ages of 20 and 50 years old.

Rare Connection: Syracuse offensive lineman Sam Heckel understands the value of using his platform as a major college football student-athlete to shine a spotlight on the Rare Disease Community better than most. It’s why the redshirt sophomore, who started all 12 games for the Orange last season at left guard and is expected to be a force up front again in 2018, became the Syracuse Football Chapter of Uplifting Athletes President. Heckel has lived with the congenital version of the rare blood disease Thrombotic Thrombocytopenic Purpura (TTP) since he was a toddler. In order to manage his extremely rare congenital form of TTP, the 6-4, 280-pound native of Wisconsin undergoes plasmatherapy one a month and it generally takes 14-20 hours for Heckel to get all the ADAMTS13 enzymes his body needs from the plasma. And he will likely undergo this treatment protocol the rest of his life. Just because he plays football on Saturday for the Orange, doesn’t mean once a month he doesn’t have to make a trek to the hospital on Sunday for his treatment. The Monday after his plasmatherapy treatments are the toughest. The offseason is manageable, but during football season, winter conditioning and spring drills it takes a team effort. During his treatments when football is front and center, Heckel is in frequent communication with the Syracuse strength & conditioning staff and his coaches about how he’s feeling. If necessary, they make arrangements to adjust his workout schedule and meeting times, so he can recuperate. Heckel nearly died from his rare disease when he was in second grade when his platelet numbers became so low he started to have organ failure. He survived after more than two weeks in the hospital, but unsure of what the future held, his parents contacted the Make-A-Wish Foundation.  When Heckel was 10 years old his wish was granted in the form of a two-week vacation for his entire family in Hawaii. What somebody else did for him stuck with Heckel. He views his story and the Uplifting Athletes Chapter at Syracuse as a way to help others and pay it forward. In his words “My wish was granted. I owe it to others, now”

READ SAM HECKEL’S ENTIRE STORY

Patient Groups: Answering T.P.P. Foundation.

Getting Social: Facebook: Answering T.P.P. Foundation

Learn More: There is no cure for congenital TTP, but the FDA approved drug SD Plasma is used to treat TTP. There are currently more than 80 clinical studies involving TTP. To learn more about clinical trials go here. Some of the most well respected resources inside the rare disease community include National Institute of Health (NIH), National Organization for Rare Disorders (NORD) and Global Genes.

SAM HECKEL

 

 

Dr. Aimee Layton to receive rare genetic disorders research grant at Young Investigator Draft presented by CSL Behring


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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. Aimee Layton

Category: Rare Genetic Disorders

Education: Dr. Layton received her bachelor’s degree in exercise science from the University of Massachusetts at Amherst before heading to New York City and Columbia University where she received a masters degree in applied physiology and her PhD in Kinesiology.

Research: Layton summarizes, “My research focuses on lung disease and how we can use exercise to improve patient outcomes and predict how a person with lung disease will respond to certain interventions, such as a lung transplant. I also research how the mechanics of breathing can be impacted by disease and how the environment (such as pollution) impacts how our lungs work.”

In Their Words: “When I was an undergraduate in college I interned at a pediatric exercise lab at Columbia University Medical Center. I had always wanted to work with athletes but this experience opened my eyes to how my work could impact people with chronic diseases. The exercise physiologist who ran the laboratory, Dr. Bob Garofano, was so passionate about his work, it inspired me to come to New York City for graduate school to work with him.” – Dr. Aimee Layton

Dr. Layton, a native of New Jersey who recently had her second child, recalls with stark clarity the phone call to her friend and mentor Dr. Garofano after taking her first job in a lab.

She was standing on the porch outside her apartment in Amherst, Massachusetts on the phone telling Dr. Garofano how much she missed people and hated working in a biomechanics lab of an athletic footwear company.

The bottom line for Dr. Layton, if she was going to be in a lab she needed to be working to try and help people directly.

“I really missed working with patients. I called Bob (Dr. Garofano) and told him I was in the wrong sector of life, that I didn’t want to be in industry and that I missed people so much,” said. Dr. Layton, who grew up playing sports and is part of a competitive cycling team that competes in road racing and cycle cross. “Bob asked me if I wanted a relationship with a product or a person? I knew I wanted to be in a lab, but I learned it also had to be with people.”

Dr. Layton was applying to graduate schools at the same time she had her moment of clarity, and she had already received a full graduate scholarship offer from UMass. Dr. Garofano told her if she loved people come to New York and go to graduate school at Columbia University and work in his lab helping people. He would help make sure to do everything he could to help.

The easy and safe decision was to take the full scholarship at UMass. Dr. Layton went to New York City and Columbia, instead.

I started as an intern with (Dr. Garofano) when I was a sophomore in college. I loved it so much I went back every year without getting paid or any credit cause I loved it so much. He was so inspiring and I loved the people,” Dr. Layton said. “So I went to Columbia and  I did temp jobs and managed. What stayed with me was Bob kept his word to me. He told me to come and would make it work out and he did.”

“We all love working with people and also love the lab. To change even one person’s life, even just a little, making it a little easier to go up the stairs, for example, is such a great impact. That’s what inspires us.”

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Dr. Angela Waanders to receive rare cancers research grant at Young Investigator Draft presented by CSL Behring


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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. Angela Waanders

Category: Rare Cancers

Education: Dr. Waanders did her undergraduate work close to home after receiving a full scholarship to Western Michigan University. She received her masters degree in public health from Tulane University and then stayed in New Orleans for medical school at Tulane.

Research: Waanders summarizes, “My research began in 2007 as a pediatric hematology oncology fellow with a research project using SNP-array technology to profile childhood brain tumors. Since that time, I have been directly involved in the genomic discovery and molecular characterization of brain tumors. My work directly led to the discovery of an activated novel KIAA1549-BRAF fusion oncogene in the majority of pediatric low-grade gliomas (PLGGs). This genomic abnormality has since been found to be a hallmark of PLGGs. After my fellowship, I continued my research in the laboratory of Dr. Adam Resnick. Our initial findings in the March 2013 PNAS journal laid the foundation for understanding BRAF signaling – a type of genetic mutation fusion – and has opened the door to several multi-institutional collaborations. I have since been involved in developing the phenotypic data infrastructure for the multi-institutional Children’s Brain Tumor Tissue Consortium (CBTTC), the first of its kind cancer database with specimens linked to prospective longitudinal clinical data collection. As the Executive Board Chair for CBTTC, and as the Director of Clinical Research for the Center for Data Driven Discovery in Biomedicine (D3b) at the Children’s Hospital of Philadelphia, I have also worked directly with the bioinformatics group to develop our research portal and web-based applications for data viewing and generation. Most recently, I have launched a national initiative to routinely collect post-mortem brain-tumor tissue, including whole brain and spinal cord. This allows us to collect tissue longitudinally from time of diagnosis, progression/recurrence, and at time of death. The current application builds upon my existing scientific roles and disease domain expertise.”

In Their Words: “I’m a physician-scientist involved in clinical care and research on childhood brain and spinal cord tumors. We always need more people doing science. In pediatrics, doing both (physician and scientist) is what a lot of us do.” – Dr. Angela Waanders

Adopted from South Korea at the age of 2 years old, Dr. Waanders grew up with a large family in the small town of Allegen in southwest Michigan. Her mother came from a big family so it’s no surprise she has three older siblings, six nieces, three great nieces and four great nephews.

With all those nieces and nephews you would figure Dr. Waanders  would be drawn to pediatric medicine.

That wasn’t exactly the case according to Dr. Waanders.

“I’m a very mission and service oriented person,” said Dr. Waanders, whose hobbies include distance running (she is training to run the Marine Corps Marathon later this year), cooking (and eating), adventures, travel and reading. “Pediatrics and pediatric oncology came later during medical school. I wanted to do Doctors Without Borders or something like that.

“Going through medical school and clinical rotations, the very first patient I took care of in medical school was a pediatric patient. That is what changed it for me.”

Dr. Waanders landed at Children’s Hospital of Philadelphia after medical school where she completed her general pediatrics residence and pediatric hematology oncology fellowship on her way to becoming a well-respected physician-scientist.

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Dr. Alessia Stornetta to receive rare blood disorders research grant at 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. Alessia Stornetta

Category: Rare Blood Disorders

Education: Dr. Stornetta grew up in Ticino, the Italian-speaking region of Southern Switzerland. She received her bachelor and master degrees in food science and in 2016 obtained her PhD all from the Swiss Federal Institute of Technology (ETH) in Zurich. Last year Dr. Stornetta joined the laboratory of Dr. Silvia Balbo as a postdoctoral associate at the Masonic Cancer Center at the University of Minnesota.

Research: Stornetta summarizes, “In the Balbo lab we are investigating how environmental exposures resulting for example from alcohol or tobacco, but also from molecules naturally produced by our body, cause diseases. In particular, my research focuses on studying exposures in the oral cavity of people with Fanconi anemia, a rare genetic blood disorder that may result in bone marrow failure, physical abnormalities, organ defects, and an increased risk for developing certain cancers, such as those of the oral cavity of FA patients resulting from aldehydes, reactive by-products of cellular metabolism, but also common constituents of diet, cigarette smoke, and environmental pollution. My research is currently focusing on studying the exposure in the oral cavity of FA patients resulting from aldehydes, reactive by-products of cellular metabolism, but also common constituents of diet, cigarette smoke, and environment pollution. The ultimate goal of this study is to understand if FA patients are more susceptible to the detrimental effects of aldehydes to the oral cavity compared to non-FA subjects and if this can explain their higher risk for developing oral cancer. This research has the potential to provide new insights on the role of aldehydes in the development of oral cancer and to impact the FA community with concrete interventions that could contribute to the prevention or delay of the incidence of these cancers in these patients.

In Their Words: “What first first inspired me to do research on toxicology and cancer was during my master studies after attending the toxicology lectures given by Prof. Shana J. Sturla, who later also became my PhD advisor at ETH Zurich. Since cancer is one of the leading causes of death in the United States and worldwide, the possibility of contributing to improve strategies to prevent the development of certain cancers or to improve cancer therapy is what drives and motivates me to be in the lab every day.” – Dr. Alessia Stornetta

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Uplifting Athletes summer 2018 Lift For Life events raise the bar


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Uplifting Athletes wrapped up its 2018 Lift For Life season with nine more college football student-athlete led chapters holding events in June and July.

Penn State, Illinois, Notre Dame, NC State, Clemson, Northwestern, Syracuse, Baylor and Fordham each designed their own playbook for their Lift For Life.

“The fun part for me was going to each school. Every school is so different. I love seeing the character of the chapter leaders and the roots of the strength program come through in each event,” said Uplifting Athletes Director of Chapter Development Brett Brackett. “Despite the differences between each school, there is no difference between the kid with a giving heart.

“It doesn’t matter what their school colors are. The student-athletes are just awesome to be around. It doesn’t matter if they are on full scholarship at a big school or they are paying money to attend an FCS school, the energy and passion for helping others is infectious.”

The nine events combined to raise more than $185,000 for Uplifting Athletes in support of our mission to inspire the Rare Disease Community with hope and our commitment to our four charitable programs: Rare Disease Awareness, Rare Disease Research, Uplifting Experiences and Uplifting Leaders.

“This being my second year, I was able to get to know the guys more this year,” Brackett said. “We are also able to use the strength of the schools and the chapter leaders to enhance their experience and expand their impact through it.”

Here’s a quick recap of the nine events.

Penn State: The Nittany Lions kicked off the summer event schedule on June 30th with their 16th annual Lift For Life. The event turned out a stellar crowd of nearly 1,000 people. The crowd-friendly event was a huge hit once again and chapter co-president Steven Gonzalez put on a show with 34 reps on the bench press.

Illinois: The Illini followed with their 6th annual Lift For Life inside of Memorial Stadium on July 8th. This event was closed to the public, but the media on hand did a great job telling the story to help bring awareness to the rare disease cause.

Notre Dame: On July 20th,  the Fighting Irish held their 2nd annual Lift For Life. The Notre Dame event was closed to the public and the workout details were a surprise to the team. The Notre Dame Chapter did a fantastic job engaging all their teammates and creating awareness through social media.

NC State: The Wolfpack held their event on July 18th under the roof of NC State’s indoor practice facility. The NC State Chapter has one of the more unorthodox Lift For Life events. It is open to the public and the fans were lining up at the door to get a chance to watch the Wolfpack in action and support the rare disease cause!

Northwestern: The Wildcats held their Lift For Life on July 19th in Northwestern’s brand new weight room. The scene in the weight room overlooking Lake Michigan was fiery as the team pounded out 225-pound bench max reps.

Clemson: The Tigers held their annual Lift For Life with the offense and defense going head-to-head on the bench press 225-pound max repetitions competition.  Just like in years past, the Clemson Chapter put forth a great effort.

Syracuse: The Orange hosted their Lift For Life on July 20th and the event was open to the public. Syracuse did a particularly good job leveraging its platform to raise awareness for rare diseases with chapter President Sam Heckel speaking publicly about battling a rare disease while playing major college football.

Baylor: The Bears jumped back onto the scene this summer as they held their first Lift For Life event since 2015. It was a very competitive environment in the Baylor weight room and the extra incentive to push out a few extra reps provided enough motivation for several members of the team to hit a 225-pound max bench press personal best during Lift For Life.

Fordham: The Rams held the final Lift For Life of the summer on July 31st during an open weight room workout leading up to the start of camp. Fordham chapter leaders displayed their passion for the cause by empowering their teammates to sign up to raise money and awareness in a short promotional window.  The Fordham chapter quickly engaged supporters and took advantage of their social media networks to run a successful event.

 

Emily Rhodes Lowry to receive rare muscular and neurological disorders research grant at Young Investigator Draft presented by CSL Behring


This slideshow requires JavaScript.

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: Emily Rhodes Lowry

Category: Rare Muscular and Neurological Disorders

Education: Rhodes Lowry received her BA from Barnard College in neuroscience and behavior then went to Rockefeller University for graduate school and earned her PhD in neurobiology and genetics. Since graduating from Rockefeller in 2012, Rhodes Lowry has been working in the research laboratory of Hynek Wichterle, PhD at Columbia University.

Research: Lowry summarizes, “The focus of the work we do in the lab is to screen for drugs that can potentially treat ALS. To do this, we’ve developed a system where we can use stem cell technology to generate motor neurons, the cells that control muscle movement and get sick and die in ALS, from actual human patient tissue. We then add thousands of drugs at a time to those motor neurons to look for the compounds that prevent the neurons from dying. Once we have a promising set of drug candidates, we work with chemists to modify the structures of the drugs to make them more stable and more likely to reach the spinal cord, where motor neurons live. To date, nobody really understands why motor neurons suddenly die in ALS after they’ve been totally fine for most of the patient’s life. The targets that our best drugs are acting on can tell us more about what gets turned on and what gets turned off in a motor neuron when it decides to die.”

In Their Words: “Neuroscience was the perfect combination of biology, chemistry, physics, and, because so little is known about the brain, creativity. The next summer I interned in a neuroscience lab at UCSF, and after that I knew I had found what I wanted to for the rest of my life!” – Emily Rhodes Lowry

Emily Rhodes Lowry is a San Francisco native who remembers with crystal-clear clarity when neuroscience became much more than just another science class.

Growing up in Northern California Emily had two passions, science and creative pursuits, but wasn’t sure how to blend these two interests into something she could envision as a potential career or future.

Emily qualified, through eighth-grade standardized testing, for summer classes at Johns Hopkins University. At the time, she wanted nothing to do with summer school and was looking forward to a summer of hanging and out spending time with friends.

Her parents insisted she go and, for no clear reason, Emily signed up for a neuroscience class without any real knowledge of the brain or what she was signing up for.

“I ended up totally loving it, so thanks mom and dad” said Lowry, who in her free time outside the lab has a strong passion for underserved youth – especially girls – and helping access hands-on science education. “This work is really exciting to me not only because we might be able to directly help ALS patients someday with optimized drugs, but also because figuring out how these drugs are working is teaching us new things about the disease.”

A love of science, a passion for creativity and a dose of compassion for people suffering has driven Emily to the lab looking for answers to very tough medical questions.

“When I started doing my own research, I focused on neurodegeneration,” Lowry said. “Because it’s a dual opportunity to find new ways to help patients and to figure out what’s going wrong in these diseases in the first place.”

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