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 is required.

2018 CCRRD Presentations Videos and Slides

Welcome and Introduction
Peter A. Merkel, MD, MPH
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Challenges and Solutions to Conducting Clinical Research in Rare Diseases
Peter A. Merkel, MD, MPH
[ Download Slides ]

Clinical Trial Design Issues and Options for Study of Rare Diseases
Jeffrey Krischer, PhD
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Considerations for the Use of Biomarkers in the Study of Rare Diseases
Kathleen Donohue, MD
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How to Work with Industry and the FDA for Rare Diseases Research
Lucas Kempf, MD; Mitchell Goldman, MD, PhD
[ Slides Coming Soon ]

Importance of Investigator and Patient Advocacy Group (PAG) Collaborations
Tracy Hart, Alice McConnell; Brendan Lee, MD, PhD; Jean-Baptiste Roullet, PhD
[ Slides Coming Soon ]

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 is required.

2016 CCRRD Presentations Videos and Slides

Welcome and Introduction
Peter A. Merkel, MD, MPH
[ Download Slides ]

Challenges and Solutions to Conducting Clinical Research in Rare Diseases
Peter A. Merkel, MD, MPH
[ Download Slides ]

Assessment of Treatment Response by 18F-Fludeoxyglucose Positron Emission Tomography (FDG-PET) in Patients with Large Vessel Vasculitis (LVV)
Shubhasree Banerjee, MD
[ Download Slides ]

Next-Generation Sequencing for Craniofacial Gene Discovery
Elizabeth Bhoj, MD PhD; Hakon Hakonarson, MD PhD; Elaine Zackai, MD
[ Download Slides ]

Whole Exome Sequencing Identifies Genes Converge on PI3K/mTOR and Ras/MAPK Pathways as Causes of Generalized Lymphatic Anomaly
Dong Li, PhD
[ Slides Coming Soon ]

Clinical Trial Design Issues and Options for Study of Rare Diseases
Jeffrey Krischer, PhD
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Systems Biology, Genetics, and Big Data in the Study of Rare Diseases
Matthias Kretzler MD
[ Slides Coming Soon ]

Defining Subtypes in Pediatric Pulmonary Hypertension (PH): A Bayesian Network Approach
Mei-Sing Ong
[ Slides Coming Soon ]

Industry Relations
Chester B. Whitley, PhD, MD
[ Slides Coming Soon ]

Oxalobacter formigenes Treatment of Primary Hyperoxaluria
Dawn S. Milliner, MD
[ Slides Coming Soon ]

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 is required.

2012 CCRRD Presentations Videos and Slides

Welcome and Introduction
Peter A. Merkel, MD, MPH; Stephen C. Groft, PharmD
[ Watch Video ] [ Download Slides ]

Clinical Trial Design Issues and Options for the Study of Rare Diseases
Jeffrey Krischer, Ph.D
[ Watch Video ] [ Download Slides ]

Ethical Issues in Research on Rare Diseases
David Wendler
[ Download Slides ]

Development of a CFTR Potentiator The Perspective of a Clinical Investigator
Bonnie W. Ramsey, MD
[ Download Slides ]

Vertex Program to Discover and Develop Therapies for Cystic Fibrosis
Eric Olson, PhD
[ Download Slides ]

Do Anti-Phospholipase A2 Receptor Antibodies Predict Recurrence of Membranous Nephropathy After Transplantation?
Rivka Ayalon MD
[ Download Slides ]

Idiopathic Bronchiectasis and Connective Tissue Fibrillinopathies: Dural Ectasia as a Marker of a Distinct Bronchiectasis Subgroup
M. Leigh Anne Daniels, MD, MPH
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Exome sequencing and functional validation in zebrafish identify novel genes for dystroglycanopathies
M. Chiara Manzini PhD
[ Download Slides ]

Cholesterol pool size in Smith-Lemli-Opitz syndrome children receiving cholesterol supplementation alone or combined with simvastatin
Semone B. Myrie
[ Download Slides ]

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 is required.

2010 CCRRD Presentations Videos and Slides

Welcome and Introduction
Peter A. Merkel, MD, MPH; Stephen C. Groft, PharmD
[ Watch Video ]

Creating, Maintaining, and Growing Clinical Research Networks in Rare Diseases
Peter A. Merkel, MD, MPH
[ Watch Video ] [ Download Slides ]

Clinical Trial Design Issues and Options for the Study of Rare Diseases
Jeffrey Krischer, PhD
[ Watch Video ] [ Download Slides ]

The CTSA Program and Rare Disease Research
Robert D. Steiner, MD
[ Watch Video ] [ Download Slides ]

Study Designs for Rare Diseases
Keith Hull, MD, PhD
[ Watch Video ] [ Download Slides ]

Industry Perspective of Orphan Diseases Drug Development
Edward M. Kaye, MD
[ Watch Video ] [ Download Slides ]

Conflicts of Interest and Rare Diseases
Susan H. Ehringhaus
[ Watch Video ] [ Download Slides ]

Parent, Advocate, Researcher (The View From My Parachute)
Jannine D. Cody, PhD
[ Watch Video ] [ Download Slides ]

2007 Conference Resources