U.S. flag
        An official website of the United States government
          Here’s how you know

      Official websites use .gov
                A
                .gov
                website belongs to an official government organization in the United States.
          Secure .gov websites use HTTPS
                A lock
                  (
                  
                  )
                   or
                  https://
                   means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.Search
                Menu
    
                      Información en Español
                      Search NINDSSearch NINDS
            

            Main navigation
  

        
              Health Information
                                     Toggle Health Information Dropdown
                                Disorders
                Clinical Trials
                Patient & Caregiver Education
                Public Education
                Support Resources
                Funding
                                     Toggle Funding Dropdown
                                Find Funding Opportunities
                About Funding
                Preparing Your Application
                After You Submit
                Determining Your Funding Likelihood
                Manage Your Award
                NINDS Small Business Program
                Training & Career Development
                Current Research
                                     Toggle Current Research Dropdown
                                Coronavirus and NINDS
                Focus on Disorders
                Focus on Tools & Topics
                Research Funded by NINDS
                Research at NINDS
                Scientific Resources
                Trans-Agency Activities
                News & Events
                                     Toggle News & Events Dropdown
                                Events
                News
                Director's Messages
                About NINDS
                                     Toggle About NINDS Dropdown
                                Who We Are
                What We Do
                Job Opportunities 
 Home
                                About NINDS
                        What We Do
                        Impact
                        Workforce Diversity Success Stories
SHARE: Success Stories: Audrey Winkelsas
Image
              photo of Audrey Winkelsas
**Audrey Winkelsas, DPhil**
MD Candidate
University of Michigan

**Serving my community through translational research**

Research is essentially solving puzzles, and since I’ve always enjoyed problem-solving, my motivation to pursue science as a career came to me early on. Having a neuromuscular disease requires problem-solving as well as creativity and perseverance to be second nature. I was born with spinal muscular atrophy (SMA) and am close with the SMA community. As a high school student, I saw science as an opportunity for me to serve my community and make an impact. While an undergraduate at the University of Miami, I became involved in research at The Scripps Research Institute in the laboratory of Dr. Matthew Disney. Here, I fell in love with RNA and realized this was the direction I wanted to take with my research career. This led me to apply to the NIH Oxford-Cambridge Scholars Program for my DPhil where I was able to continue my work on RNA and developing RNA therapeutics for neuromuscular diseases.

In the NIH Oxford-Cambridge Scholars Program, graduate students divide their time between two laboratories: one at the NIH and one at the University of Oxford or the University of Cambridge. As a doctoral student, I worked in the laboratory of Dr. Kenneth Fischbeck at the National Institute of Neurological Disorders and Stroke (NINDS) and the laboratory of Dr. Matthew Wood at the University of Oxford. While these labs shared a similar research goal and were complementary to one another, the research approach and the resources available differed at each institution. Being a member of two labs exposed me to two distinct research cultures and a diversity of perspectives, which helped me grow as a researcher. Interacting with two networks of scientists helped strengthen my skills in teamwork and collaboration. I was able to establish relationships with postdoctoral fellows and other graduate students at these institutions which became an important support network during my training.

I was also fortunate to have two research mentors who were supportive of my personal and professional goals. My mentors were intentional in providing me professional development opportunities to mature as a scientist, from learning to peer-review manuscripts to presenting at conferences and seminars. In particular, Dr. Fischbeck helped me refine my communication skills. Science communication is so important because ultimately, when we make discoveries in the lab, we must be able to communicate them with our community to advance the field. Under his mentorship, I learned to present my work in a simple and concise manner, allowing the science to speak for itself and also making it more digestible for different audiences. In addition to Drs. Fischbeck and Wood, I was also informally mentored by Dr. Vivian Cheung, a visiting scientist at NINDS, who offered me a broader perspective about career development and the logistics of reaching my career goals. In the NIH Oxford-Cambridge Scholars Program, there are opportunities for many different levels of mentorship, and the culmination of these interactions helped shape me into the scientist I am today.

My graduate experience at NINDS also led me to pursue medical school after finishing my DPhil. Currently, I am an MD candidate at the University of Michigan. My time as a medical student is supported by the NIH through the Medical Scientist Training Program (MSTP) and is a continuation of the training I started in the NINDS Intramural Research Program. My ultimate career goal has not changed: I still want to understand the pathogenesis of different neuromuscular diseases and develop therapeutics for patients with neuromuscular diseases. I realized in graduate school, though, that I want to be able to bring the insights made in the lab back to the patient community as therapeutics through clinical trials.

Growing up, I was always interested in medicine, but I didn’t think it was possible or practical for me to pursue because of my disability. I didn’t see clinicians who had the same level of physical ability as me, so I decided to strictly focus on research training. While at NINDS, I experienced the clinical/translational research cycle: 1) see a patient in the clinic, 2) take a sample from the patient back to the laboratory to identify the genetic cause of their disease, 3) develop a potential therapeutic strategy for this genetic mutation in the laboratory, and 4) complete the cycle by bringing that potential therapeutic back to the patient via a clinical trial. I saw several different examples of this while in the Neurogenetics Branch at NINDS, and this made my interest in medicine resurface. I started to investigate this path more, and actively sought out and spoke with clinicians with disabilities. They showed me that being a physician-scientist was an achievable goal.

Throughout my research journey, the lack of representation is not the only obstacle I’ve faced. In general, there were a lot of logistical hurdles in the lab. For example, I am not physically able to perform benchwork and require lab assistants. I also have a service dog. When I first came to the NIH, service animals were new territory, so it took some time to figure out how to accommodate my service dog in the lab. An important skill I developed as a researcher with a disability is to advocate for myself. It’s a skill I still need to work on strengthening because it is so essential. For those considering the path of graduate school, know that the field of science needs diversity of perspective and people from all sorts of different backgrounds. Even if you don’t see someone who looks like you in an established research or clinical position, if you are passionate about science and/or medicine, I encourage you to go for it. Your background, interests, and perspective can give you a unique way of thinking about the science, and we need that breadth to successfully problem-solve together. As a future physician-scientist, I hope to not only contribute to innovation in therapeutics development, but I would also like to use my background and experiences to prioritize the needs of the patient community in clinical research in the form of more sensitive outcome measures and standards of care to help enhance their quality of life.

**Current Work**


  Image
              diagram of sequence based targeting of genes
Nucleic acid therapeutics allow sequence-based targeting of genes. They can be used to increase the expression and function of disease genes or to decrease the expression of toxic gene products. One disease amenable to this treatment approach is spinal muscular atrophy (SMA). SMA is a neuromuscular disorder caused by loss of function mutations in the survival motor neuron 1 gene (*SMN1*). All patients have at least one copy of a paralog, *SMN2*, but a C-to-T transition in this gene results in exon 7 skipping in most transcripts. As a result, only 10 to 20 percent of *SMN2* transcripts encode the fully functional SMN protein. Increasing the total pool of *SMN2* transcripts and increasing the translational efficiency of these transcripts are strategies to increase SMN levels. The 5’ untranslated region (5’UTR) of messenger RNAs (mRNAs) regulates the transport, stability, and translational efficiency of transcripts. We identified antisense oligonucleotides targeting the 5’UTR of *SMN2* that increase *SMN2* mRNA and protein levels in patient cells by stabilizing *SMN2* mRNA.

In future research, I plan to continue investigating the use of nucleic acid therapeutics for the treatment of rare diseases. About NINDS
  
    

    Who We Are
                                                              
                    
                                      Staff Directory
    
            Program Directors
    
            Advisory Council
                                                              
                    
                                      NANDSC ME/CFS Research Roadmap Working Group
    
            NANDS Council Neural Exposome Top Priorities (NEXT) Working Group
    
            NANDSC Membership Roster
    
            NANDSC Fundamental Neuroscience Working Group
    
            NANDSC Working Group for Health Disparities and Inequities in Neurological DisordersLeadership
    
            Board of Scientific Counselors
    
            Director's Corner
    
            Organization
                                                              
                    
                                      Office of the Director
                                                              
                    
                                      Division of Clinical Research
    
            Division of Extramural Activities
    
            Division of Intramural Research
    
            Division of Neuroscience
    
            Division of Translational Research
    
            Office of Scientific Management and Operations
                                                              
                    
                                      Office of Management
    
            Office of Neuroscience Communications and Engagement
    
            Office of Pain Policy and Planning
    
            Office of Science Policy and PlanningOffice of the BRAIN Director
        
  
              
        
  
              
        
  
              
    
            What We Do
                                                              
                    
                                      NINDS Mission
    
            Strategic Plans & Evaluations
                                                              
                    
                                      Strategic Plans
                                                              
                    
                                      Strategic Plan 2021-2026
    
            Alzheimer’s Disease-Related Dementias Summits
    
            Amyotrophic Lateral Sclerosis (ALS)
    
            Cerebral Palsy Research
    
            Epilepsy Research
    
            Health Disparities and Health Equity
    
            Muscular Dystrophy Coordinating Committee
    
            Parkinson’s Disease Research Planning
    
            Stroke Research Planning
    
            Tuberous Sclerosis Complex
    
            Workforce DiversityProgram Evaluations
        
  
              
    
            Workforce Diversity
                                                              
                    
                                      Diversity Policies & Resources
    
            Enhancing DiversityImpact
                                                              
                    
                                      NINDS Contributions to Approved Therapies
    
            Translational Research Success Stories
    
            Workforce Diversity Success Stories
                                                              
                    
                                      Success Stories: Ukpong Eyo
    
            Success Stories: Brielle Ferguson
    
            Success Stories: Audrey Winkelsas
    
            Success Stories: Eduardo Candelario-Jalil
    
            Success Stories: Daniel Colón-Ramos
    
            Success Stories: Julia Dallman
    
            Success Stories: Rachel Dreilinger
    
            Success Stories: Michelle Gray
    
            Success Stories: Corey Harwell
    
            Success Stories: Franck Kalume
    
            Success Stories: Zayd Khaliq
    
            Success Stories: Naomi Lee
    
            Success Stories: Joaquin N. Lugo
    
            Success Stories: Susan Marino
    
            Success Stories: Cassie S. Mitchell
    
            Success Stories: Edjah K. Nduom
    
            Success Stories: Ketema Paul
    
            Success Stories: Azizi Seixas
    
            Success Stories: Alexis Simpkins
    
            Success Stories: Catrina Sims-Robinson
    
            Success Stories: Mariana Torrente
    
            Success Stories: Tyisha WilliamsBudget & Legislation
                                                              
                    
                                      FY23 Total Appropriation
    
            FY22 Total Appropriation
    
            FY21 Total Appropriation
    
            FY20 Total Appropriation
    
            NINDS Annual Budget
                                                              
                    
                                      NINDS 2025 Congressional Budget Justification
    
            NINDS 2024 Congressional Budget Justification
    
            NINDS 2023 Congressional Budget Justification
    
            NINDS 2022 Congressional Budget Justification
    
            NINDS 2021 Congressional Budget JustificationLegislative Updates
        
  
              
    
            Scientific Review Branch
        
  
              
    
            Job Opportunities
                                                              
                    
                                      Careers at NINDS
                                                              
                    
                                      Director, Biologics Neurotherapeutic Development
    
            Health Program Specialist
    
            Health Scientist Administrator (Program Officer)
    
            Health Scientist Administrator (Program Director), Neural Environment Cluster
    
            Neurosurgery Research Fellowships
    
            Program Director, Parkinson’s Disease
    
            Program Director, Vascular Contributions to Cognitive Impairment and Dementia (VCID)
    
            Staff Clinician, Section of Infections of the Nervous SystemNIH BRAIN Initiative® Careers
    
            NIH HEAL Initiative Careers
                                                              
                    
                                      Health Scientist Administrator, PTDP
    
            Health Scientist Administrators, NINDS/PSPP

Did you find the content you were looking for?
  Yes, I did find the content I was looking for



No, I did not find the content I was looking forPlease rate how easy it was to navigate the NINDS website
  Very easy to navigate



Easy to navigate



Neutral



Difficult to navigate



Very difficult to navigateThank you for letting us know! Any other feedback?Submit

This site is protected by reCAPTCHA and the Google Privacy Policyand Terms of Serviceapply.

      Last reviewed on September 20, 2022
        Contact Us
  

        
              Contact NINDS
                Visitor Information
        Related Sites
  

        
              Site Map
                National Institutes of Health
                Department of Health & Human Services
                USA.gov
        Policies
  

        
              Accessibility
                Freedom of Information Act
                Linking Policy
                Privacy Statement
                Vulnerability Disclosure Policy
Follow NINDS On Social Media
          
          National Institutes of Health (NIH)
          9000 Rockville Pike, Bethesda, MD, 20892