Rare Disease Research

Rare Genetic Disorders Grant Recipient
Rare Cancers Grant Recipient
Rare Blood Disorders Grant Recipient
Rare Muscular & Neurological Disorders Grant Recipient
Rare Autoimmune Disorders Grant Recipient
Rare Genetic Disorders Grant Recipient

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.”

Dr Layton

 

Rare Cancers Grant Recipient

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.

Dr Storm and Dr Waanders

 

Rare Blood Disorders Grant Recipient

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

Dr Stornetta

Rare Muscular & Neurological Disorders Grant Recipient

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.”

Dr. Emily Lowery

Rare Autoimmune Disorders Grant Recipient

Researcher: Dr. David C. Fajgenbaum

Category: Rare autoimmune and immunological disorders

Education: BS in human sciences from Georgetown University, MS in public health from Oxford University, MD from University of Pennsylvania Perelman School of Medicine and MBA in healthcare management from University of Pennsylvania.

Research: Dr. Fajgenbaum leads the Castleman Research Program at Penn as primary investigator of 18 translational research studies, including an international natural history study and the first-ever NIH R01 grant. His published research has changed the way idiopathic multicentric Castleman disease is researched and treated. He is also a patient himself, who is in his longest remission ever thanks to a precision treatment that he identified, which had never been used before for Castleman disease.

In Their Words: “I think at the end of the day, if you boil me down, I am somebody who gets something done. I spend a lot of time thinking about what I’m going to do, but I don’t spend a lot of time talking about what I’m going to do. I’m a doer and I want to get things done. There are people counting on me, patients need answers from me and I need to provide them. I need to stay on the horse and keep pushing.” – Dr. David Fajgenbaum

During his third year of medical school in 2010, Fajgenbaum, who was studying to become an oncologist, became extremely ill battling his rare disorder, spent five months in the hospital and reached the point of having his last rites read.

If that wasn’t enough to inspire and motivate the brilliant doctor, four more near-fatal relapses gave Fajgenbaum all the motivation required to carve out his own unique Castleman disease research path.

Fajgenbaum, who along with his wife Caitlin are expecting their first child later this month, co-founded the Castleman Disease Collaborative Network in 2012, through which he has spearheaded the “Collaborative Network Approach” to research. His particular sub-type of Castleman disease, idiopathic multicentric, involves the immune system attacking and shutting down the body’s vital organs. It affects people of all ages and the sub-type iMCD has only a 50 percent five-year survival rate.

“What keeps me working hard is the realization that, after many years in and out of the hospital and nearly dying, if I want something to happen, and I want solutions and cures for Castleman disease, I can’t wait and hope somebody else finds the answers,” Fajgenbaum said. “If I want something done, I need to do it myself. That’s what keeps me pushing hard and going forward. If I don’t jump into action that hope for solutions and cures will not turn into reality.”

News

Posted on Friday August 31, 2018
This story was written by ESPN Staff Writer Michael Rothstein and published on August 29, 2018. We are sharing this story as it was printed. To see the original link on ESPN.com click here. ALLEN PARK, Mich. — He finished his workout, got in his car and drove 1.8 miles from the Detroit Lions‘ practice facility […] Continue Reading »
Posted on Friday August 17, 2018
Uplifting 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 […] Continue Reading »
Posted on Friday August 10, 2018
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 […] Continue Reading »
Posted on Wednesday August 08, 2018
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 […] Continue Reading »
Posted on Tuesday August 07, 2018
  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 […] Continue Reading »
Posted on Monday August 06, 2018
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 […] Continue Reading »
Posted on Tuesday July 31, 2018
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 […] Continue Reading »
Posted on Wednesday July 25, 2018
  Uplifting Athletes is set to tie the theme of the NFL Draft and Rare Disease Research together on August 18 in Philadelphia. The inaugural Young Investigator Draft presented by CSL Behring will take place at Lincoln Financial Field, home of the Super Bowl champion Philadelphia Eagles. Former Princeton running back and 2011 Uplifting Athletes […] Continue Reading »
Posted on Wednesday July 11, 2018
Uplifting Athletes is pleased to announce CSL Behring as the title sponsor for the 2018 Young Investigator Draft on August 18 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 […] Continue Reading »