Conference on Clinical Research for Rare Diseases

The Conference on Clinical Research for Rare Diseases is focused on training the next generation of investigators in order to assure the future of rare diseases research. The event is hosted by the Rare Diseases Clinical Research Network. A total of five conferences have been held to date. Please view resources from the events below.
This conference is targeted for new investigators, trainees, junior faculty, and others interested in rare disease research methodology. Attendees have the opportunity to:
- Meet key leaders in rare diseases research.
- Engage in formal and informal networking and idea generation with other trainees and investigators.
- Discuss career development and strategic planning for academic success.
- Explore research collaborations.

View Materials from Previous Conferences
2018 Conference Resources
Abstract and Poster Session
Conference attendees are encouraged to submit an abstract which are then reviewed by the planning committee. The abstracts selected by the planning committee were invited to be displayed as a poster during the conference.
Investigators working on rare diseases provided feedback and advice during the poster session.
PDF viewer required, download free version here.
2018 CCRRD Presentations Videos and Slides
Welcome and Introduction
Peter A. Merkel, MD, MPH
Challenges and Solutions to Conducting Clinical Research in Rare Diseases
Peter A. Merkel, MD, MPH
Clinical Trial Design Issues and Options for Study of Rare Diseases
Jeffrey Krischer, PhD
Considerations for the Use of Biomarkers in the Study of Rare Diseases
Kathleen Donohue, MD
2016 Conference Resources
Abstract and Poster Session
Conference attendees are encouraged to submit an abstract which are then reviewed by the planning committee. The abstracts selected by the planning committee were invited to be displayed as a poster during the conference.
Investigators working on rare diseases provided feedback and advice during the poster session.
PDF viewer required, download free version here.
2016 CCRRD Presentations Videos and Slides
Welcome and Introduction
Peter A. Merkel, MD, MPH
Challenges and Solutions to Conducting Clinical Research in Rare Diseases
Peter A. Merkel, MD, MPH
Assessment of Treatment Response by 18F-Fludeoxyglucose Positron Emission Tomography (FDG-PET) in Patients with Large Vessel Vasculitis (LVV)
Shubhasree Banerjee, MD
Next-Generation Sequencing for Craniofacial Gene Discovery
Elizabeth Bhoj, MD PhD; Hakon Hakonarson, MD, PhD; Elaine Zackai, MD
Clinical Trial Design Issues and Options for Study of Rare Diseases
Jeffrey Krischer, PhD
2012 Conference Resources
Abstract and Poster Session
Conference attendees are encouraged to submit an abstract which are then reviewed by the planning committee. The abstracts selected by the planning committee were invited to be displayed as a poster during the conference.
Investigators working on rare diseases provided feedback and advice during the poster session.
PDF viewer required, download free version here.
2012 CCRRD Presentations Videos and Slides
Welcome and Introduction
Peter A. Merkel, MD, MPH; Stephen C. Groft, PharmD
Clinical Trial Design Issues and Options for the Study of Rare Diseases
Jeffrey Krischer, PhD
Ethical Issues in Research on Rare Diseases
David Wendler
Development of a CFTR Potentiator The Perspective of a Clinical Investigator
Bonnie W. Ramsey, MD
Vertex Program to Discover and Develop Therapies for Cystic Fibrosis
Eric Olson, PhD
Do Anti-Phospholipase A2 Receptor Antibodies Predict Recurrence of Membranous Nephropathy After Transplantation?
Rivka Ayalon MD
Idiopathic Bronchiectasis and Connective Tissue Fibrillinopathies: Dural Ectasia as a Marker of a Distinct Bronchiectasis Subgroup
M. Leigh Anne Daniels, MD, MPH
Exome sequencing and functional validation in zebrafish identify novel genes for dystroglycanopathies
M. Chiara Manzini, PhD
Cholesterol pool size in Smith-Lemli-Opitz syndrome children receiving cholesterol supplementation alone or combined with simvastatin
Semone B. Myrie
2010 Conference Resources
Abstract and Poster Session
Conference attendees are encouraged to submit an abstract which are then reviewed by the planning committee. The abstracts selected by the planning committee were invited to be displayed as a poster during the conference.
Investigators working on rare diseases provided feedback and advice during the poster session.
PDF viewer required, download free version here.
2010 CCRRD Presentations Videos and Slides
Welcome and Introduction
Peter A. Merkel, MD, MPH; Stephen C. Groft, PharmD
Creating, Maintaining, and Growing Clinical Research Networks in Rare Diseases
Peter A. Merkel, MD, MPH
Clinical Trial Design Issues and Options for the Study of Rare Diseases
Jeffrey Krischer, PhD
The CTSA Program and Rare Disease Research
Robert D. Steiner, MD
Study Designs for Rare Diseases
Keith Hull, MD, PhD
Industry Perspective of Orphan Diseases Drug Development
Edward M. Kaye, MD
Conflicts of Interest and Rare Diseases
Susan H. Ehringhaus
Parent, Advocate, Researcher (The View From My Parachute)
Jannine D. Cody, PhD