Rare Disease Day: Get to know the people behind the research

News & Events

rare disease day 2018

University of Nevada, Reno School of Medicine  rare disease investigators from left to right: Andreia Nunes (post-doc), Marisela Dagda (technician), Ryan Wuebbles, Ph.D. (research assistant professor), Pamela Barraza-Flores (graduate student), Dean Burkin, Ph.D., (professor), Charis Himeda, Ph.D., (research assistant professor), Tatiana Fontelonga (graduate student), Christina Smith (graduate student), Spencer Schreier (staff research associate), Peter Jones, Ph.D. (associate professor), Takako Jones, Ph.D., (research associate professor), and Ning Chang (graduate student).

Rare Disease Day takes place on the last day of February each year and is designed to raise awareness about rare diseases, specifically among policy makers, public authorities, industry representatives, researchers and health care professionals. Despite the fact that one in 20 individuals in the world will live with a rare disease in their lifetime, the majority of rare diseases have no cure, many have limited treatment options and often go undiagnosed.

But it's not just the diseases that deserve the spotlight on this day. It's the people who deal with them. The patients, doctors, nurses, researchers and so many others who work each day to cope with, better understand and treat these diseases.  

Some of these faces include investigators at the University of Nevada, Reno School of Medicine who are working fiercely to better understand and develop effective therapies for debilitating rare diseases.

Dean Burkin, Ph.D.
Research focus:
Duchenne muscular dystrophy (DMD) and laminin-alpha2-related congenital muscular dystrophy (LAMA2-CMD)   

Dean Burkin, Ph.D.My research program aims at developing small molecule therapies for DMD and protein replacement therapies for LAMA2-CMD.  

DMD is a devastating genetic disease that affects one in 5,000 newborn boys and is caused by mutations in the dystrophin gene, which results in loss of the dystrophin protein. Children with DMD are confined to a wheelchair by 12 years of age and typically die in their second or third decade of life. LAMA2-CMD is a rare genetic disease cause by mutation in the laminin-alpha2 gene and affects about one in 100,000 boys and girls. Children with LAMA2-CMD have muscle weakness from birth, require ventilator assistance to breathe and have reduced life expectancies. There is no treatment or cure for LAMA2-CMD.  

Following a study in collaboration with the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH) we identified an already present compound that helps bind muscles together called apha7beta integrin, as well as an FDA-approved novel compound, SU9516, which increases alpha7beta1 and prevents muscle disease in test subjects. Successful outcomes of the study-benefiting from a $3.5 million grant distributed among 13 research institutions from the Muscular Dystrophy Association-could develop the foundation for future clinical trials and treatments for DMD.  

We hope to develop new therapies that increase life quality and longevity for children with neuromuscular disease.  

Peter Jones, Ph.D.
Research focus: facioscapulohumeral muscular dystrophy (FSHD) and arhinia   

The common thread in our lab tying everything together is epigenetics of muscle development and disease. I was first introduced to FSHD because one of my graduate students was an FSHD Peter Jones, Ph.D.patient, and we became interested in arhinia-congenital absence of the nose-because it has a similar genetic and epigenetic cause to FSHD.  

Because of my diverse scientific training background, I am able to approach our FSHD and arhinia research programs from different angles. Our lab has published using numerous model organisms, including worms, frogs, honeybees, fruit flies, mice and primary mouse and human muscle cell cultures. We use these models to understand the fundamentals of muscle biology, how the changes in gene expression seen in FSHD affect normal function and to model FSHD for therapeutic development, providing tools for preclinical testing.  

We have several therapeutic approaches that we hope to take from bench to clinic. These include small molecules in collaboration with the Burkin lab and Strykagen and other molecules identified through other pharma collaborations. We are also pursuing CRISPR technology as a potential FSHD therapy. Overall, we have three provisional patents for FSHD-one for diagnostics and two for therapeutic approaches.  

Takako Jones, Ph.D.
Research focus: facioscapulohumeral muscular dystrophy (FSHD)   

Takako Jones, Ph.D.I am a molecular development biologist by training and have been using this expertise towards investigating the molecular mechanisms underlying FSHD since 2008. My current focus is on generating and characterizing novel mouse models for FSHD for therapeutic development and preclinical testing. My FSHD work on human tissues has refined the DUX4 expression model for FSHD, identified individual epigenetic differences as the primary determinant of severity of FSHD manifestation, and collaboratively identified a novel myogenic enhancer involved in pathogenic gene expression in FSHD.  

FSHD affects approximately 12 in 100,000 adults and is one of the most prevalent myopathies that afflicts males and females, children and adults. A major gap in the FSHD field has been the lack of an animal model of the disease to perform preclinical testing and potential therapeutics. We have recently developed novel mouse models of FSHD based on pathogenic DUX4 expression and DUX4 regulation that develop FSHD-like pathology. In order to move the field forward, we have made this mouse model freely available to the FSHD field, both in academia and industry.  

When I started FSHD research in 2008, the basics of the disease mechanism were absent and clinical trials for FSHD were far away. Now we understand the disease mechanisms, and we're on the verge of being involved in clinical trials. It is exciting to see how FSHD research has evolved in the past 10 years and that we've been a major part of this progress.  

Charis Himeda, Ph.D.
Research focus: facioscapulohumeral muscular dystrophy (FSHD)   

Working for nineteen years in the fields of myogenesis and muscle disease has given me a deep appreciation for the value of both basic and translational research. More recently, I have appliedCharis Himeda, Ph.D. my interests and expertise to addressing fundamental questions in FSHD and exploring potential avenues to therapy. To aid patient understanding of FSHD research, I am a frequent contributor of meeting reports and articles to the FSH Society newsletter.

In 2016, I demonstrated that pathogenic gene expression in FSHD could be repressed using CRISPR technology. Following the publication of this study, I was interviewed by The Washington Post, The Huffington Post, and The Boston Business Journal. I also moderated a discussion for FSHD patients regarding the details and implications of our work. These unexpected opportunities were challenging, but important to help communicate our findings-and poorly-understood advances in biomedical research-to both patients and the general public. For these contributions, I received the inaugural FSH Society Young Investigator of the Year award in 2016.

Rare diseases receive less attention and financial support than other, more common conditions, but the patients and families afflicted by them suffer just as much. In addition, rare diseases-and particularly FSHD-are tremendously interesting. Studying them often sheds light on unknown biological mechanisms that more conventional maladies tell us nothing about. 

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The University of Nevada, Reno School of Medicine, Nevada's first public medical school, is a community-based, research-intensive medical school with a statewide vision for a healthy Nevada. Established in 1969, UNR Med is improving the health and well-being of all Nevadans and their communities through excellence in student education, postgraduate training and clinical care, research with local, national and global impact and a culture of diversity and inclusion.