Contact Us

The following contact information is provided for correspondence regarding administrative questions and operations of the Rare Diseases Clinical Research Network (RDCRN). We are unable to answer medical questions.

 

Who do I contact for questions regarding a rare disease?

Our network focuses on clinical research and does not generally support clinical care outside of research activities. View the diseases we currently study and reach out to the indicated consortia or research groups for more information on those diseases.

To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.

 

RDCRN Program Director

RDCRN is an initiative of the Office of Rare Diseases Research (ORDR) at the National Institutes of Health’s National Center for Advancing Translational Sciences (NCATS). Tiina Urv, PhD, is the NCATS Program Director for RDCRN. She can be reached via email at urvtiin@mail.nih.gov

 

Data Management and Coordinating Center

The RDCRN Data Management and Coordinating Center (DMCC) is based at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati. The DMCC facilitates network operations, research, participant engagement, and data sharing. It also hosts the RDCRN websites. Please direct questions to RD.DMCC@cchmc.org

 

RDCRN Consortia (Rare Disease Research Groups)

The RDCRN consortia (rare disease research groups) are teams of researchers, patients, and clinicians, each focused on a group of rare disorders. They collaborate to achieve faster diagnosis and better treatments for people living with rare diseases. The principal investigators and contact information for each consortium are listed below. Please visit their linked websites for more information.

 

Brain Vascular Malformation Consortium (BVMC)
Principal Investigator
Helen Kim, MPH, PhD
University of California, San Francisco

Main Contact
Andres M. Alvarez Pinzon, PhD, MD, MHA
Project Manager for the Brain Vascular Malformation Consortium (BVMC)
Clinical Research Program Manager
UCSF - Center for Cerebrovascular Research
School of Medicine - University of California, San Francisco
Medical Sciences Building
513 Parnassus Avenue, Room S445E, Box 1363
San Francisco, CA 94143
C: 954.446.5645 | T: 415.476.2677
Email: Andres.alvarezpinzon@ucsf.edu
http://ccr.ucsf.edu

 

Brittle Bone Disorders (BBD)
Principal Investigator
Brendan Lee, MD, PhD
Baylor College of Medicine

Main Contact
Dianne Nguyen, BS 
Consortium Project Manager  
Baylor College of Medicine  
Phone: 713-798-6694
Fax: 713-798-3050
Email: diannen@bcm.edu

 

Congenital and Perinatal Infections Consortium (CPIC)
Principal Investigator
David Kimberlin, MD
University of Alabama at Birmingham

Main Contact
Jill Bailey-Griffin, RN, MSN
Pediatric Clinical Trials Administrator 
UAB Research - Pediatric Infectious Diseases
The University of Alabama at Birmingham
CHB Room 303 | 1600 7th Avenue S | Birmingham, AL 35233-1711
P: 205.638.2537
F: 205.934.8559
Email: jgriffin@peds.uab.edu

 

Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)
Principal Investigator
Marc Rothenberg, MD, PhD
Cincinnati Children’s Hospital Medical Center

Main Contact
Heidi Poppendeck, MPH
Consortium Project Manager
Phone: 513-652-4420
Email: Heidi.Poppendeck@cchmc.org

 

Clinical Research in ALS and Related Disorders for Therapeutic Development Consortium (CReATe)
Principal Investigator
Michael Benator, MD, PhD
University of Miami Miller School of Medicine, Florida

Main Contact
Anne Cooley
Consortium Project Manager
Department of Neurology
University of Miami Miller School of Medicine
Phone: 844-837-1031
Email: projectcreate@miami.edu

 

Developmental Synaptopathies Consortium (DSC)
Principal Investigator
Mustafa Sahin, MD, PhD
Boston Children’s Hospital

Main Contact
Rajna Filip-Dhima, MS 
Project Manager
Boston Children's Hospital 
300 Longwood Avenue
Boston, MA 02115
Email: Rajna.Filip-Dhima@childrens.harvard.edu

 

Dystonia Coalition
Principal Investigator
Hyder A. Jinnah, MD, PhD
Emory University, Atlanta, GA

Main Contact
Gamze Kilic-Berkmen, PhD
Research Project Manager
Emory University School of Medicine
Department of Neurology
6300 Woodruff Memorial Building
101 Woodruff Circle
Atlanta, GA 30322
Phone: 404-727-3381
Email: gamze.kilic.berkmen@emory.edu
dystoniacoalition@emory.edu
www.dystoniacoalition.org

 

FCDGC
Principal Investigator
Eva Morava-Kozicz, MD, PhD
Mayo Clinic
Email: Morava-kozicz.eva@mayo.edu

Main Contact
Kaitlin Schwartz
Program Coordinator, Mayo Clinic
Email: Schwartz.kaitlin@mayo.edu
507-293-9114

 

Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)
Principal Investigators
Stephanie Davis, MD
The University of North Carolina at Chapel Hill

Thomas Ferkol, MD
Washington University in St. Louis

Main Contact
Kelli M. Sullivan, MPH, CCRP
Project Officer
Marsico Lung Institute / Cystic Fibrosis Center
University of North Carolina at Chapel Hill
7222 Marsico Hall CB #7248
Chapel Hill, NC 27599-7248
Phone: 919-966-0713
Fax: 919-966-7524
Email: Kelli_Sullivan@med.unc.edu

 

Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Principal Investigators
Adeline L. Vanderver, MD
Children's Hospital of Philadelphia

S. Ali Fatemi, MD, MBA
Kennedy Krieger Institute

Florian S. Eichler, MD
Massachusetts General Hospital

Main Contact
Omar Sherbini, MPH
Clinical Research Program Manager
Children’s Hospital of Philadelphia
Philadelphia, PA
Email: sherbinio@email.chop.edu

 

Inherited Neuropathies Consortium (INC)
Principal Investigator
Michael E. Shy, MD
University of Iowa, Iowa City

Main Contact
Shawna Feely
Phone: 319-384-6362
Email: UICMTClinic@uiowa.edu

 

Lysosomal Disease Network (LDN)
Principal Investigator
Chester B. Whitley, PhD, MD
University of Minnesota, Minneapolis

Main Contact
Brenda Diethelm-Okita
Program Coordinator, Lysosomal Disease Network
Phone: 612-625-1594
Email: dieth001@umn.edu

 

Myasthenia Gravis Rare Disease Network (MGNet)
Principal Investigator
Henry J. Kaminski, MD
The George Washington University, Washington, DC

Main Contact
Helen Girma
Program/Research Coordinator, MGNet
George Washington University
Phone: 202-677-6205
Email: hgirma@mfa.gwu.edu

 

Nephrotic Syndrome Study Network (NEPTUNE)
Principal Investigator
Matthias Kretzler, MD
University of Michigan, Ann Arbor

Main Contact
Tina Mainieri
NEPTUNE Program Manager
Nephrotic Syndrome Study Network
A520C MSRB I
1150 W Medical Center Dr.
Ann Arbor, MI 48109-5657
Phone: 734-615-5020
Email: neptune-study@umich.edu

 

North American Mitochondrial Disease Consortium (NAMDC)
Principal Investigator
Michio Hirano, MD
Columbia University, New York

Main Contact
Xiomara Rosales, MD
NAMDC Central Coordinator
Columbia University Medical Center
630 West 168th Street. Room 4-424
New York, NY 10032
Phone: 212-342-2336
Email: xr2126@cumc.columbia.edu

 

Phenylalanine Families and Researchers Exploring Evidence (PHEFREE)
Principal Investigator
Cary Harding, MD
Oregon Health & Science University, Portland, OR

Main Contact
Hadley Morotti
Study Coordinator
Oregon Health Sciences University
Molecular & Medical Genetics
Email: morotti@ohsu.edu

 

Porphyrias Consortium (PC)
Principal Investigator
Robert J. Desnick, PhD, MD
Icahn School of Medicine at Mount Sinai, New York

Main Contact
Karli Hedstrom, MPH
Consortium Project Manager
Comprehensive Porphyria Diagnostic & Treatment Center
Icahn School of Medicine at Mount Sinai
One Gustave L. Levy Place, Box 1497
New York, NY 10029
Phone: (212) 659-1450
Fax: (212) 426-9065
Email: karli.hedstrom@mssm.edu

 

Primary Immune Deficiency Treatment Consortium (PIDTC)
Principal Investigators
Jennifer M. Puck, MD
University of California, San Francisco

Donald B. Kohn, MD
University of California, Los Angeles

Main Contact
Sharon Kidd, MPH, PhD
Consortium Senior Program Manager
UCSF Pediatric A/I BMT
550 16th Street, 4th floor 
San Francisco, CA 94143-0434
Phone: 415-476-3875
Fax: 415-514-3372
Email: sharon.kidd@ucsf.edu

 

Rare Lung Diseases Consortium (RLDC)
Principal Investigator
Bruce Trapnell, MD
Cincinnati Children’s Hospital Medical Center

Main Contact
Brenna Carey, MS, PhD 
Program Manager 
Division of Pulmonary Biology and Neonatology 
3333 Burnet Avenue
Cincinnati, Ohio 45229 
Phone: 513-636-8916
Fax: 513-636-3723
Email: Brenna.Carey@cchmc.org

 

Rett Syndrome, MECP2 Duplication, & Rett-related Disorders Consortium (RTT)
Principal Investigator
Alan K. Percy, MD
University of Alabama Birmingham

Main Contact
Jane Lane, RN, BSN
Clinical Research Center Project Manager
Rett Syndrome, MECP2 Duplication, and Rett-Related Disorders Consortium
University of Alabama at Birmingham, Civitan International Research Center
Phone: 205-934-1130
Fax: 205-975-6330
Email: jlane@uab.edu

 

STAIR: Sterol and Isoprenoid Research Consortium
Principal Investigator
William B. Rizzo, MD
University of Nebraska Medical Center, Omaha, NE

Main Contact
Sara Jones
Study Coordinator
University of Nebraska Medical Center
985456 Nebraska Medical Center – MMI 3062
Omaha, NE 68198-5456 - USA
Phone: 402-559-2511
Email: SaraM.Jones@unmc.edu

 

Urea Cycle Disorders Consortium (UCDC)
Principal Investigator
Andrea L. Gropman, MD, FAAP, FACMG
Children’s National Medical Center, Washington, DC

Main Contact
Jennifer Seminara, MPH, CCRP 
Clinical Research Program Manager 
Urea Cycle Disorders Consortium 
Children's Research Institute
Children's National Health System
111 Michigan Avenue, NW
Washington, DC 20010
Phone: 202-306-6489
Email: jseminar@childrensnational.org

 

Vasculitis Clinical Research Consortium (VCRC)
Principal Investigator
Peter A. Merkel, MD
University of Pennsylvania, Philadelphia, PA

Main Contact
Carol McAlear, MA
Project Manager
Phone: 781-321-4567 
Email: cmcalear@pennmedicine.upenn.edu