Detroit Lions’ Zach Zenner working to cure rare disease, save kids’ lives


NFL: Green Bay Packers at Detroit Lions

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 to a Starbucks inside a Barnes & Noble. Zach Zenner sat down, opened up his laptop and began his second job: trying to save the lives of children.

For at least two hours each day this spring, inside the bookstore he has gone to since his rookie year, Zenner logged on to a microscope almost 1,000 miles away at Sanford Research. There, he read images of the stained brains of mice studied in a lab. He recorded the results and analyzed the data.

This was Zenner’s latest offseason, medical-research project, joining Dr. Jill Weimer’s team at Sanford searching for effective drug treatments and, hopefully, eventually, a cure for Batten Disease. This was different than Zenner’s past two years studying hypertension and diabetes in Detroit-based labs, earning him a medical-journal publication. This time, he was working remotely instead of having his hands in everything. His responsibilities changed, forcing him to use different brain muscles.

And he was working to find a way to keep children alive from a rare, debilitating disease.

All 13 types of Batten Disease — a group of lysosomal storage genetic disorders — affect children. The National Institutes of Health estimates that between two and four of every 100,000 children in the United States will be diagnosed with a form of Batten. Almost all are fatal, most by the time the child reaches age 12. There is no cure. Only one form — CLN2 — has a potentially effective treatment.

When Zenner started working on Batten, he didn’t know much about it. Assigned to write an introduction for a couple of papers, he began to dive deep into the disease. Children with Batten, according to the NIH, appear healthy at birth and can start showing symptoms anywhere from infancy to age 4 or 5, depending on the form.

Eventually, the children can become blind, unable to communicate and are sometimes confined to a wheelchair.

“It just puts it in perspective what you’re doing,” Zenner said. “It might seem like all you’re doing is crunching numbers and looking at image slides, but then you always have to have in the back of your mind what the overall picture is, which is trying to help those kids out that have it.”

ZENNER 1

Zenner ended up on the project because it fit his schedule demands. He knew he would have to work remotely due to a combination of his hectic life, lab location, football training and the birth of his first child.

Sanford invited him to work there, in part, because he already is accepted to the University of South Dakota’s Sanford School of Medicine. A good opportunity to do quality research along with making connections for his future, he accepted.

He met Weimer, who was skeptical of the arrangement at first. She figured she might hear from him once or twice and that he’d work when he could. She didn’t expect him to become a fully immersed part of the group, including participating in the group WhatsApp chat and twice-weekly lab meetings via Skype.

“I was pleasantly surprised,” Weimer said. “Even the week after they had the baby, he logged into lab meetings. He’s holding the baby in his arms while his wife was getting some rest. It was so impressive.”

Zenner became one of two “Weimer Lab Ghosts” along with Katherine White, whom he worked with almost daily — communicating what they were seeing and the data they were tracking.

Zenner’s past two years placed him in labs studying mice under microscopes, participating in different tests, feeding them, recording data and sometimes doing postmortem surgery to help with results. This project, over the span of six months, featured his critical thinking and a more intensive scientific-writing regimen.

“To go back and write again is such a good exercise and so important in science,” Zenner said. “To do that was really good. A good exercise. It was just different skills. The image analysis is something that is a part of any lab work and ended up just being more of my focus this time around, and it’s good.

“It’s a good skill to have, and although it is different, it is still very important for a lot of labs that you work in.”

Weimer had Zenner record the results he read on the microscope blindly — meaning he didn’t know which slides were the disease with drug treatment and which were without — so he could make unbiased decisions about whether or not the treatment was working.

Much of Zenner’s work focused specifically on CLN6, with which symptoms begin within a child’s first few years. It leads to children losing the ability to walk, speak and, eventually, see. Kids with CLN6 usually die by their early teenage years. There is also an adult-onset version of CLN6 that has a slower rate of decline.

CLN6 is trickier, Weimer said; from her observations, if a family’s first child has it, somehow the second child often does, as well — even though it should be only a 1-in-4 possibility.

For any type of Batten to occur, the child has to receive a bad gene from both parents, both of whom have to be carriers for the disease. A lot of recent Batten disease research funding came from the Charlotte and Gwenyth Gray Foundation, a nonprofit started by Gordon Gray — a producer on the films “Miracle,” “The Rookie” and “Million Dollar Arm” — and his wife, Kristen. Their two daughters have Batten. Money raised by their research helped create a gene therapy clinical trial in less than a year.

“Part of what Zach was involved in was helping us with the analysis of screening gene therapy in other forms of Batten disease and just knowing that sometimes it could take a long time for kids to get the cue to receive the gene therapy,” Weimer said. “Or some of them aren’t eligible for the gene therapy trial, so what other drugs or treatments are there out on the market that we can actually be treating these kids with?

“Also, gene therapy is so new, we have no clue how long it is going to last, so we’ll always want to have an arsenal of treatments ready to go. So the drugs Zach was involved in screening were really those next-generation treatments that we kind of have cued up after the gene therapy.”

Zenner, standing in the Lions’ locker room earlier this month, shook his head when he was asked what he learned about Batten. He could have been there for hours and not covered all of it. Working on a rare disease parents and children have no control over left him with a greater appreciation of the wonder of the human body.

“I’m always struck by how easy it is for things to go wrong, like you have one genetic mutation and you’re missing this protein and now you have an autosomal storage disorder and you have progressive nerve degeneration and you die when you’re 8 years old,” Zenner said. “You know, it’s horrible. But it’s such a small thing that turns into such a large consequence.

“I’m always struck by how the human body is put together and how so many things can go wrong. But when you look at the general population, how often it doesn’t go wrong and the miracle of human life, I guess.”

Studying humans — and helping them — has always been Zenner’s goal. He applied to medical school before he knew professional football would be a reality.

He has deferred Sanford’s acceptance yearly as he stayed with the Lions. While Sanford still has an agreement to accept him, because his NFL career has been an actual career — something unknown when he was an undrafted free agent out of South Dakota State in 2015 — he likely has to retake the MCAT.

It would seem like it could have been a decision point for Zenner between football and medicine, but he insisted it isn’t. Football, with which he’s on the roster bubble with the Lions, is still the priority. Zenner is committed to football for as long as it will have him. But he also knows what’s waiting for him after.

“What we’ve discussed a little bit of is a conditional acceptance — like if I retake my MCAT and I get a certain score, then I will maintain my acceptance to the school,” Zenner said. “It’s more a ‘take it to stay at USD.’ It’s not like they revoked it.

“It’s not a decision point for me. Having to retake it — at this point in my career, I’m going to have to retake it either way.”

As long as the Sanford acceptance remains, and there’s no reason to think it won’t, he’ll eventually start classes there. When he does, he already has been offered a job in Weimer’s lab. She told Zenner he can return to do research in offseasons. When he does eventually start med school, she has a medical-student training grant ready for him so he can work for her while receiving a stipend as part of an internship program.

Zenner and Weimer hope that is still far off. After this spring, there’s little question about Zenner’s long-term future. It’ll be in medicine. In the short-term, he has an offseason working home.

“The way that it’s set up it is really easy for them to cut out little chunks for people to work on,” Zenner said. “With the way, how kind they are and how it is set up that way, it’s really easy for me to keep going back.”

When he does, there will be more lives to try to save while working from South Dakota, his home or a coffee shop somewhere.

 

 

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

 

 

Dr. Aimee Layton to receive rare genetic 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: 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.”

CSL BEHRING YID 18 GRAPHIC

 

 

Dr. Angela Waanders to receive rare cancers 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: 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.

CSL BEHRING YID 18 GRAPHIC

 

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

CSL BEHRING YID 18 GRAPHIC

 

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.”

CSL BEHRING YID 18 GRAPHIC

 

Dr. David Fajgenbaum to receive rare autoimmune and immunological disorder 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: 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 health care 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

Video: Treating My Own Disease

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 keeping me pushing hard and going forward. If I don’t jump into action that hope for solutions and cures will not turn into reality.”

CSL BEHRING YID 18 GRAPHIC