April 2015: House Testimony of Dr. Muna Naash of Oklahoma

Written Testimony of Muna I. Naash, PhD of Oklahoma

Labor, Health and Human Services, Education, and Related Agencies

Subcommittee of the House Committee on Appropriations

April 28, 2015

Usher syndrome researcher, George Lynn Cross and Edith Kinney Gaylord Presidential Professor, University of Oklahoma Health Sciences Center

My name is Muna Naash and I am a biomedical research scientist. I have spent my career studying diseases of retinal degeneration and designing nanoparticle-based gene therapies to potentially treat the debilitating effects of vision loss. I have expanded my research interests and have been involved in Usher syndrome research for several years. As a vision scientist, I write on behalf of the Usher syndrome scientists striving to help Usher patients and respectfully request this committee prioritize funding for basic research in order to understand mechanisms of this disease and funding for translational research in order to identify therapeutic targets to treat this debilitating disease. As you prepare the Fiscal Year 2016 Labor, Health and Human Services, Education bill, we respectfully request that you include the following report language:

The Committee commends NIH for including Usher syndrome on the Estimates of Funding for Various Research, Condition, and Disease Categories (RCDC) list in order to track the annual support level of this rare disease. The Committee urges NIH to prioritize Usher syndrome research at the National Institute on Deafness and Other Communication Disorders (NIDCD) and the National Eye Institute (NEI) and develop a multidisciplinary research strategy among multiple NIH institutes, including the National Center for Advancing Translational Sciences (NCATS), the National Human Genome Research Institute (NHGRI), and the National Institute of Mental Health (NIMH). Because Usher syndrome is a rare genetic condition, the Committee urges NCATS to support fundamental basic science research on Usher syndrome and NHGRI to support research on the underlying genetic causes of Usher syndrome. Since children and adults with Usher syndrome are at risk for the development of mental and behavioral disorders, the Committee urges NIMH to support research to elucidate genomic risk factors that underlie mental disorders. The Committee urges additional focus from NIDCD, given Usher syndrome's involvement with vestibular dysfunction. The Committee requests an update in the fiscal year 2017 CJ on the planned and on-going activities related to this syndrome, including the manner in which various ICs coordinate on common goals and objectives.

Usher syndrome is the most common cause of combined deafness and blindness. In the United States, it is estimated that nearly 50,000 people have this rare genetic disorder. I have made it a personal goal of mine to help these people. Last year, I had the opportunity to attend the Usher Syndrome Coalition’s International Symposium on Usher Syndrome at Harvard Medical School. It was a very humbling and motivating experience. This conference had scientists, doctors, and patients all in attendance. Having the opportunity to meet and talk with the people living with this disease was inspirational.  

Usher syndrome patients living with this disease show tenacity, strength, and endurance; striving as they walk through life with audiovisual impairment. I have dedicated my time and resources to studying the mechanism of hearing and vision loss associated with this disease. I currently study Usher syndrome type 2A and hope to, in time, study additional genetic subclasses of Usher syndrome. Entering this new field of research, I have found the community of Usher scientists to be extraordinary. They are passionately dedicated to their research, all with the goal to help patients.

As a private investigator studying Usher syndrome, more specifically USH2A, I have developed a unique mouse model to study one of the most common mutations detected in patients with type 2A. This model is genetically modified to have the c.2299delG deletion mutation in the usherin gene. We chose this mutation to initiate our research because it affects the largest group of Usher syndrome patients. With that being said, every clinical type and genetic subtype of Usher syndrome needs to be studied. With added funding opportunities, we hope to generate more models for the exact defects seen in genes associated with this devastating syndrome to benefit Usher patients. Using the model I have developed, I hope to elucidate the mechanism of Usher syndrome type 2A and generate gene therapies to treat this disease, first in this unique mouse model, then translating the results to humans. This technology can then be applied to the other Usher syndrome mouse models. I feel that if we as Usher syndrome scientists can identify a suitable target for treatment of one genetic subtype, the treatment for the other genetic subtypes will

I don’t know what it is like to live without sight or hearing, but I can imagine that losing the two most important senses for communicating with the outside world leaves people feeling alone and hopeless. My goals are to help these patients, to give them sight and the opportunity to see the world as you and I can. Usher syndrome patients should be able to enjoy the things in life we all take for granted; hearing a song that moves them, watching the sun set, picking out their favorite color to paint their house. The bigger events in life that we look forward to are often not fully experienced by Usher syndrome patients, such as hearing their new baby cry or seeing their spouse’s face when they say ‘I do’.

People with Usher syndrome share the same range of intelligence and work ethic as any other slice of America. Yet they suffer from an 82% unemployment rate. People with Usher syndrome are born with the same emotional strength as any other American. Yet they have a suicide rate that is 2 ½ times greater than the general population. People with Usher syndrome not only have the capacity to contribute to America’s future, they thirst for it. They want to be active members of society. Yet our country spends an estimated $139 billion annually in direct and indirect costs for people with eye disorders and vision loss. That doesn’t even include the costs associated with hearing impairment.

I have spoken with and have met hundreds of people who are determined, focused, and working everyday to help themselves, their loved one, or in some cases complete strangers, figure out how to treat this syndrome. Usher genes are complex, long protein cells, which require significant investment in research if we are ever to find a cure or treatment. We can’t do it alone.

Without Federal support, we cannot help any of the tens of thousands who have Usher syndrome, or countless others that will be born with this devastating genetic disorder in the future. There are dozens of different mutations that cause Usher syndrome, and the pace of research is slowed dramatically by the lack of researchers and funding. The infrastructure is there to find treatments, but the significant financial support is not. We are asking you to supply this last critical resource to help us find a cure. Until very recently, there was no way of knowing how much money the National Institutes of Health (NIH) invested in Usher syndrome research. Through the efforts of the Usher Syndrome Coalition, this rare disease has been added as a new category in the NIH Categorical Spending list, the Estimates of Funding for Various Research, Condition, and Disease Categories (RCDC). Through the RCDC system, we now have visibility into the total dollars spent on Usher syndrome, as well as the specific grants that were funded. Usher syndrome research still needs a lot more investment, but this is a great start.

We know funds are limited, however we request the committee ensure appropriate funding for Usher syndrome research. We are requesting that Usher syndrome research be made a priority and all possible available funds be dispersed amongst bench science, translational science, and clinical science to be most beneficial to patients with this disease. All we need is a chance to discover, a chance to help children and adults suffering from Usher syndrome, a chance to give them sight. With your help, we can have that chance.