Topic outline

  • Workshop Topics

    Please click on each section below to access the materials and resources.
    • What to Do Before You Come to DC

      Now that you've gotten your hotel reservations, your transportation is arranged, your call shifts are covered, and you have  a friend to water the plants, take a few minutes to take the pretest and tell us a one minute description of your research.  Then, get your bag packed with business casual clothes and comfy walking shoes and we'll see you in DC!

    • In-Person Fall Workshop

      The Fall Workshop is an opportunity for Certificate Program Participants to gather to identify new resources that will equip them to further their research careers.  The presentations are designed to be 30 minutes in length to offer ample opportunity for participants to interact with the experts and their peers in identifying "HOW" to implement these ideas into their own research work.

    • NCATS Director: Dr. Chris Austin

    • The FDA Perspective on Rare Disease Research

      Dr. Devanand Jilapalli is a neurologist for the FDA.  Dr. Jilapalli will be sharing with us the way the FDA is poised to help you further your research endeavors to help patients with rare diseases.

      "Role of FDA in Facilitating Rare Disease Clinical Trials and the Elements Needed to Succeed"

    • Unique Skill Sets in Rare Disease Research

      Biostatistics and IT technology resources are important tools in rare disease research that are often underutilized and can be undervalued.  In this session, we will work to identify biostatistical and IT resources that will further enhance your research endeavors.

    • Patient-Centered Outcomes Research Institute: the name says it all!

      Dr. Danielle Wicher, Clinical Effectiveness Research Program Officer, will be sharing with the group the goals of PCORI, the funding resources it can offer, and specific examples of how the Institute has equipped researchers in rare diseases.  This will be a meaningful time to analyze unique funding streams and resources that you might not have previously thought of for your rare disease work. 

    • National Organization for Rare Disorders

      Paul Melmeyer will share with us the goals of NORD and how we as a rare disease community can work to further the goals of each individual in the group

    • LearnRD: Adult Learning for the Rare Disease Community

      Meet with the creator of LearnRD to get inside information on how to make the on-line year smoother.  And then Deb will review the resources embedded within the program to help you better educate your students, patients, donors, funders, and maybe even yourself.

    • Leveraging Family Groups for Advocacy, Study Support, and Clinical Trial Participants

      Mrs. Jana Monaco, a parent and advocate for rare disease, will be sharing her story of a child with a rare disease and how she has become a leading advocate for rare disease support and research. 

    • Capitol Hill and the Rare Disease Community

      We will be discussing how Capitol hill views rare disease, research, and funding from a bipartisan panel of health care policy advisors.  Dr. Karen Summar is a developmental pediatrican and Dr. Eric Flamm has extensive knowledge of the orphan drug act. 

      Come prepared with questions!  From Dr. Summar " Tell them to plan to come with questions – there are no naïve or dumb questions.  Also, have them think about some of the obstacles and/or concerns they have about the work they do.  Areas might include – student debt, electronic medical records, IRB frustration.  I would remind them that many great policies started with one idea.  In that same vein, I would remind them to share ideas for improving things."

      • September 2015 In-Person Meeting Recap

        Our hope is that you feel a little bit more motivated, a lot more encouraged, and have a few more resources to move your Rare Disease Clinical Research Project forward.  

        We are so appreciative that you took a few days out of your busy lives to re-think about what you do, why you do it, and if there are ways to do it better and more efficiently.  

        Below is the survey that has also been emailed to you. Please retrunr by email to  Or if you would like to be anonymous, you can FAX it to me at 202-476-2390 (just put my name on the fax so I get this information.

      • October 15 2015 Series: Dr. Batshaw: Funding in Rare Disease

        Thanks for joining us today!  Be sure to enjoy the baseball metaphors throughout!

        Since we're in asynchronous time, we look forward to all of you watching the session in real time or later and then either submitting questions for the "trouble shooting Q&A" time.  This will be on Tuesday 10/27@12:30.  We will have another 30 minute seminar. 

        Be sure to fill out the "feedback" quiz so I can improve November for all of us!!  And email me anytime you need something (

      • November 2015: Dr. Summar: Extrapolating the Rare to the Common.

        Dr. Marshall Summar will offer ways to extrapolate your rare disease research findings to a broader patient audience.  Not only does this allow for your research to flourish, but also makes your findings applicable to a broader scope of patients, which can increase the likelihood of pharma involvement in your work.

      • First Quarter Update/Check-in

        Take a few minutes to send us a note on how your research is going and what resources/help you need to move things to the next step!

        • All Things Industry

          In December we will be discussing the role of industry and industry relationships in rare disease research. While we do not endorse and specific company or organization, we do encourage rare disease researchers to work with community-based resources to further the needs for research within rare disease clinical research.

          Save the date: Tuesday Dec 1 midday; Thursday Dec 17 midday.
        • Drug Trial, Industry, and Rare Disease

          Dr. Greg Enns is sharing with us his experiences with collaborating with industry to move drug trials to patients with rare diseases.

        • March Elevator Talks

        • Genomics and Genetics in Rare Disease Research


          Take a quick over view of what next generation sequencing is, how it can be used, its limitations, and its benefits to patients and families with rare disorders.

        • Transition Awards...Have Paula "fit" one for you!

          Paula Gregory is a master of transition awards and wants to help "fit" you for the right award!  In this session, have dinner or a drink with Paula and I as we discuss how to be more successful in your transition award writing.  Then, we'll spend the second session "practicing" by having people share what they do and having Paula work with them to find the right award or approach for success.

        • This topic

          Undiagnosed Disease Programs

          Join us for a conversation with Dr. Bill Gahl from the National Human Genome Research Institute at NIH as he discusses his work in rare disease and how he leveraged what he had to push the edges of clinical rare disease research.

          Then, Dr. Botto from University of Utah discusses their new Undiagnosed Disease Program for their patient community and how they secured local support for the program.

        • BIOSTATS 101

        • Certificate Program Outcome Measures: Did the Program Matter?

          Our goal is to equip rare disease researchers to be successful.  This goal is lofty and would require life-long monitoring to assess.  We will be monitoring participants percent research and research publication numbers for 5 years after the completion of the program as an outcome measurement. 

          We have also identified some yearly outcome measurement using scoring rubrics.  

          1) Content Retention:  A pre-participation quiz will serve as a baseline for a post-participation quiz (pre-participation plus specific subject area content).  The passing rate will be 70%.  The pre-participation quiz will be closed book, but the post will be open book, internet, colleagues and can be taken up to 3 times to be granted a certificate.

          2) Ability to communicate orally:  A pre and post participation "elevator" presentation will be assessed on each candidate.  These 1 minute descriptions are designed to communicate participant's research goals to a lay population.  The goal is that this will facilitate communication with funding, family, and advocacy groups. A scoring rubric and a limited number of evaluators will be used to allow for consistent evaluation.

          3) Ability to design a research project:  This will be assessed by the consortium group's evaluation of the poster presentation at the end of the year-long participation.  A scoring rubric will be used by members of the participant's consortium and other consortium leaders. 

          4) Ability to perform a research project:  This will be assessed by the consortium group's evaluation of the poster presentation at the end of the year-long participation.  A scoring rubric will be used by members of the participant's consortium and other consortium leaders. 

          5) Ability to present a research project. This will be assessed by the consortium group's evaluation of the poster presentation at the end of the year-long participation.  A scoring rubric will be used by members of the participant's consortium and other consortium leaders.

        • Training Modules