Bone Marrow Failure Consortium (BMFC)

Diseases Researched:

• Aplastic Anemia
• Myelodysplastic Syndromes
• Paroxysmal Nocturnal Hemoglobinuria (PNH)
• Large Granular Lymphocyte (LGL) Leukemia
• Single Lineage Cytopenias:
  • Pure Red Cell Aplasia
  • Amegakaryocytic Thrombocytopenic Purpura
  • Autoimmune Neutropenia

For more information, please contact:

John Pellecchia, MS
Administrator
Department of Translational Hematology and Oncology Research
Taussig Cancer Institute
Cleveland Clinic
9500 Euclid Avenue/Desk R40
Cleveland, OH44195

Phone: 216-444-9017
Fax: 216- 636-2498
E-mail: pellecj@ccf.org

For Patient Advocacy, Education & Referral Contact:

Leigh Clark
Patient Educator
Aplastic Anemia & MDS International Foundation, Inc.
Office: 800-747-2820
Fax:410-867-4560
E-Mail: clark@aamds.org

Cholestatic Liver Disease Consortium (CLiC is Now ChiLDREN)

The Cholestatic Liver Disease Consortium (CLiC) is now part of ChiLDREN, the Childhood Liver Disease Research and Education Network. The new and expanded network combines CLiC and the Biliary Atresia Research Consortium (BARC), as well as new studies on cystic fibrosis liver disease. This consolidation seeks to facilitate the discovery of new diagnostics, etiologic, and treatment options for children with rare liver diseases, and those who undergo liver transplantation, and to train the next generation of investigators in rare pediatric liver diseases.

URL: http://www.childrennetwork.org

Diseases Researched:

• Alagille syndrome
• Alpha-1-antitrypsindeficiency
• Bile acid synthesis and metabolism defects
• Biliary Atresia
• Cystic Fibrosis liver disease
• Idiopathic neonatal hepatitis
• Mitochondrial hepatopathies
• Progressive familial intrahepatic cholestasis

For more information, please contact:

Joan M. Hines, MPH

The Children's Hospital
Section of Pediatric Gastroenterology/Hepatology/Nutrition
13123 East 16th Avenue
Aurora, Colorado, USA  80045

E-mail: hines.joan@tchden.org

Rare Genetic Steroid Disorders Consortium (RGSDC)

Diseases Researched:

Disorders of Androgen Excess:

• 21-Hydroxylase deficiency
• 11b-Hydroxylase deficiency

Disorders of Androgen Synthesis or Action:

• Steroid 17a-Hydroxylase deficiency
• Steroid 17b-Hydroxysteroid dehydrogenase deficiency
• Androgen Receptor Defects
• 5a-Reductase 2 deficiency
• Steroid 3b-Hydroxysteroid dehydrogenase deficiency

Low-Renin Hypertension:

• Apparent Mineralocorticoid Excess

For more information, please contact:

Maria I. New, MD
Professor of Pediatrics
Pediatric Endocrinology
Director, Adrenal Steroid Disorders Program

The Mount Sinai School of Medicine
One Gustave L. Levy Place, Box 1198
New York NY 10029-6574

E-mail: maria.new@mssm.edu

Rare Lung Diseases Consortium (RLDC)

Diseases Researched:

• Hereditary Interstitial Lung Disease (hILD)
• Lymphangioleiomyomatosis (LAM)
• Pulmonary Alveolar Proteinosis (PAP)
• Alpha-1 Antitypes (Alpha-1)

For more information, please contact:

Leslie Korbee
Project Manager
Cincinnati Children's Hospital Medical Center
Translational Research Trials Office
3333 Burnet Avenue, MLC 2022
Cincinnati, OH 45229
Phone: 513-636-6272

E-mail: Leslie.Korbee@cchmc.org

Bethany Barnett
Rare Lung Diseases Consortium Principal Research Coordinator
Phone: 1-800-825-7421 x237

E-mail: bbarnett@alphaone.org

Rare Thrombotic Diseases Consortium (RTDC)

URL: http://htc.medicine.duke.edu

Diseases Researched:

• Antiphospholipid Antibody Syndromes (APS)
• Heparin-induced Thrombocytopenia (HIT)
• Paroxysmal Nocturnal Hemoglobinuria (PNH)
• Catastrophic Antiphospholipid Antibody Syndrome (Thrombotic Storm)
• Thrombotic Thrombocytopenic Purpura (TTP)

For more information, please contact:

Sharon Hall
Research Analyst
Hemostasis and Thrombosis Research Center
Duke University Health System
P.O. Box 3422 DUMC
315 Trent Dr. Rm 273
Durham, NC 27710

Lab Phone: 919-668-6329
Office Phone: 919-681-9565
Fax: 919-681-6531

E-mail: Sharon.hall@duke.edu