• Workshop Topics

    Please click on each section below to access the materials and resources.
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    • 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!

    • RDS 2017- 2018 Launch and Orientation

    • Statistics 101 (September 2016)

      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.

    • In-Person Fall Workshop: November 3-4

      November 3:  Join with the CCRRD biannual Rare Disease Clinical Research Conference in Washington, DC

      November 4:

      8 am:  Shuttle from hotel to Children's National

      8:30:   Welcome from Dr. Marshall Summar
      9am:   Strategic Goal Setting:  the role of a plan in YOUR success
      10 am: Table Sessions to build Workgroups

      10:30:  Welcome from Dr. Mark Batshaw

      11:00:  Lunch

      11:20:  shuttle to NIH for tour and sessions

      12-12:30:  NIH security

      12:30:  The Undiagnosed Disease Network:  How Dr. Bill Gahl created a life around Rare Diesease Reserach

      1:30:  NIH Clinical Center Tour

      2:30 NIH Campus Tour

      before 4pm:  depart for airport, etc.  NIH is located in Bethesda Maryland and is on the Red line of the Metro.  The Washington Reagan Airport is a 45-60 minute train ride from Bethesda via Metro. 

    • Rare to Common by Marshall Summar

    • The Future of Rare Disease Research by Chris Austin

      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.

    • Dr. Chris Austin: What is NCATS

      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. 

      • Undiagnosed Disease: The Utah Experience by Lorenzo Botto

        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

      • 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.

      • Grantsmanship 101 by Paula Gregory

        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.

      • 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.

      • 21st Century Cures: Politics and Rare Disease

        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."

        • Biosketch 101: Review if You Need a Biosketch!

          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.

        • You Have More Time Than You Think

        • Genomics and Genetics in Rare Disease Research (OPTIONAL MODULE)


          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.

        • Biorepositories (OPTIONAL MODULE)

        • 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.

        • Tutorials


          What do you need to do to graduate??

          1) Supply your ORCID ID to Deb for long term follow-up

          2) Complete the content quiz

          3) Complete the comfort with rare disease quiz

          4) Complete the CRIA quiz

          5) Tell us you've "participated" in at least 80% of the content this year

          6) Fill out the evaluation form for the second half of the year sessions

          THANK YOU!!!  If you'll be at the NORD meeting, we will have your certificates for you there.  Otherwise, provide Deb with the address to which to send your certificate