Research Groups

Diseases Researched:

• Angelman syndrome
• Rett syndrome
• Prader-Willi syndrome

About the ARPWSC

Rett syndrome is now being studied by the Rett syndrome, MECP2 Duplications, & Rett-related Disorders Consortium.

For information on Prader-Willi syndrome, please see tab below.

For more information on Angelman syndrome, please contact:

Lynne M. Bird, MD
Office: 216-444-9017
Fax: 216-636-2498
Email: lbird@rchsd.org

URL: www.angelman.org and www.cureangelman.org

Diseases Researched:

• Autoimmune autonomic ganglionopathy
• Baroreflex failure
• Congenital autonomic disorders
• Congenital norepinephrine deficiency due to CYB561 mutations
• Dopamine beta hydroxylase deficiency
• Familial autonomic ganglionopathy
• Familial dysautonomia
• Lewy body disease
• Multiple system atrophy
• Norepinephrine transporter deficiency
• Parkinson's disease with autonomic failure
• Pure autonomic failure
• Takotsubo syndrome

Diseases Researched:

• Aplastic anemia
• Myelodysplastic syndromes
• Paroxysmal nocturnal hemoglobinuria (PNH)
• Large granular lymphocyte (LGL) leukemia
• Single lineage Ctopenias:
  • 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
Office: 216-444-9017
Fax: 216- 636-2498
Email: 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

Email: clark@aamds.org

About 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.

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
Children's Hospital Colorado
Section of Pediatric Gastroenterology/Hepatology/Nutrition
13123 East 16th Avenue, B290
Aurora, Colorado 80045
Phone: 720-777-2598
Fax: 720-777-7351
Email: joan.hines@childrenscolorado.org

URL: www.childrennetwork.org

Diseases Researched:

• Bronchiolitis obliterans
• Chronic graft versus host disease
• Cutaneous sclerosis
• Late acute graft versus host disease

For more information, please contact:

Kate Chilson
PO Box 19024
FHCRC
Seattle, WA 98109-1024
Office: 206-667-6069
Fax: 206-667-4336
Email: chronicGVHDstudies@fredhutch.org

Diseases Researched:

• Andersen-Tawil syndrome
• Episodic ataxias
• Non-dystrophic myotonic disorders

For more information, please contact:

Kimberly Hart, MA
Sr Information Analyst
FOR-DMD Contracts and Regulatory Manager

Room 2101
University of Rochester Medical Center
Neuro-Central Admin Research
Channelopathy and Muscle Study Projects
265 Crittenden Blvd
CU 420669
Rochester, NY 14642-0669

Office: 585-275-3767
Fax: 585-276-2056
Email: Kim_Hart@urmc.rochester.edu

Diseases Researched:

• Spinocerebellar ataxia 1(SCA1)
• Spinocerebellar ataxia 2(SCA2)
• Spinocerebellar ataxia 3(SCA3/Machado Joseph disease/MJD)
• Spinocerebellar ataxia 6(SCA6)

Research Studies:

For more information on the clinical study: Natural History of and Genetic Modifiers in Spinocerebellar Ataxias, please visit ClinicalTrials.gov: 

clinicaltrials.gov/ct2/show/NCT01060371

For more information, please contact:

Dr. Tetsuo Ashizawa, MD
ashizawa@ufl.edu

Dr. S.H. Subramony, MD
s.subramony@neurology.ufl.edu

University of Florida
100 S Newell Dr, L3-100
Gainesville, FL 32611

URL: For information regarding future ataxia research, please visit the National Ataxia Foundation (NAF) website www.ataxia.org

Diseases Researched:

• Alpers syndrome
• Aminoglycoside-induced deafness
• Barth syndrome
• Chronic progressive external ophthalmoplegia
• Complex I deficiency
• Complex II deficiency
• Complex III deficiency
• Complex IV deficiency
• Complex V deficiency
• CoQ deficiency
• Diabetes and Deafness
• Encephalomyopathy
• Encephalopathy
• Familial bilateral striatal necrosis
• Hepatocerebral disease
• KSS: Kearns-Sayre syndrome
• Leber hereditary optic neuropathy
• Leber Hereditary optic neuropathy-plus
• Leigh syndrome
• Leukoencephalopathy
• Maternally inherited leigh syndrome
• MELAS: mitochondrial encephalopathy lactic acidosis with stroke-like episode
• MERRF: myoclonus epilepsy eagged-red fibers
• Mitochondrial disease
• Mitochondrial DNA depletion syndrome
• Mitochondrial neurogastrointestinal encephalomyopathy
• Multiple deletions of mitochondrial DNA
• Multiple respiratory chain enzyme deficiencies
• Neuropathy, ataxia, and retinitis pigmentosa syndrome
• Pearson syndrome
• Pyruvate dehydrogenase complex deficiencies
• Sensory ataxia neuropathy dysarthria and ophthalmoplegia

Studies

• 7401: North American Mitochondrial Disease Consortium Patient Registry and Biorespository
• 7402: Natural History of MNGIE
• 7403: MNGIE (mitochondrial neurogastrointestinal encephalomypathy) AHSCT (allogeneic hematopoetic stem cell transplant) Safety Study (MASS)
• 7404: Survey Regarding the use of Oocyte Nuclear Transfer in Mitochondrial Disease
• 7405: Natural History of Alpers-Huttenlocher Syndrome
• 7406: Survey Regarding NAMDC Research Diagnostic Criteria
• 7408: Natural History of Pearson Syndrome
• 7410: Motivations and Barriers for Participation in Clinical Trials by Individuals with Mitochondrial Disease
• 7411: Nutritional Supplement use in Mitochondrial Disease
• 7412: Survey on cardiovascular events in patients with metabolic disease on chronic carnitine supplementation
• 7413: Advanced Genetic Study and Pilot Newborn Screening for Disorders of Pyruvate Metabolism
• 7414: Diagnostic Odyssey Survey
• 7416: L-Citrulline treatment of nitric oxide deficiency in MELAS: a Phase I dose-finding and safety study
• 7418: Genomic Testing for Molecularly Undefined NAMDC Registry Cases
• 7419: Diagnostic Odyssey Survey 2 (Odyssey2)
• 7420: The use of Amino Acids to Enhance the Activity of Enzymes Involved in Mitochondrial Translation Defects: a Possible Therapeutic Approach
• 7426: Harnessing resilience in adults with primary mitochondrial disease: A pilot study investigating the feasibility of the Promoting Resilience in Stress Management (PRISM) and clinical-focused narrative (CFN) interventions
• 7429: Functional near infrared spectroscopy use in pyruvate dehydrogenase complex deficient population (PILOT)

Diseases Researched:

• Prader-Willi syndrome

For more information, please contact:

Beverly P. Giordano, ARNP
Clinical Research Coordinator
Division of Pediatric Genetics
Department of Pediatrics
University of Florida

Office: 352-294-5280
Email: bgiordano@peds.ufl.edu

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

Email: maria.new@mssm.edu

Diseases Researched:

• CYP24A1 associated disease
• APRT deficiency (Dihydroxyadeninuria)
• Cystinuria
• Dent disease
• Lowe syndrome
• Primary hyperoxaluria

Diseases Researched:

• Alpha-1 antitrypsin deficiency
• Autoimmune pulmonary alveolar proteinosis (aPAP)
• Birt-Hogg-Dube syndrome (BHD)
• Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH)
• GLA/lymphangiomatosis
• Hereditary pulmonary alveolar proteinosis (hPAP)
• Hermansky-Pudlak syndrome (HPS)
• Lymphangioleiomyomatosis (LAM)
• Pulmonary alveolar microlithiasis (PAM)
• Pulmonary langerhans cell histiocytosis (PLCH)
• Secondary pulmonary alveolar proteinosis (sPAP)

For more information, please 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

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: 919-668-6329
Office: 919-681-9565
Fax: 919-681-6531
Email: Sharon.hall@duke.edu

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

Diseases Researched:

• CDKL5 mutation
• FOXG1 mutation
• MECP2 Duplications
• MECP2 mutations not associated with Rett syndrome (non-RTT MECP2 mutations)
• Rett Syndrome — Typical/Classic

For more information, please contact:

Jane Lane, RN, BSN
Consortium Project Manager
University of Alabama at Birmingham
Phone: 205-934-1130
Fax: 205-975-6330
Email: jlane@uab.edu

Diseases Researched:

• Mucoepidermoid carcinoma (MEC)
• Adenoid cystic carcinoma (ACC)
• Adenocarcinoma salivary duct carcinoma (AC)

For more information, please contact:

Adel El-Naggar MD, PhD
University of Texas MD Anderson Cancer Center
1515 Holcombe Boulevard, Unit 85, G1.3561A
Houston, TX 77030-4009
Fax: 713-792-5532
Email: anaggar@mdanderson.org

Diseases Researched:

• Cerebrotendinous xanthomatosis hyperimmunoglobulinemia D with periodic fever syndrome
• CK syndrome
• CK syndrome & CHILD syndrome (congenital hemidysplasia w/ ichthyosiform erythroderma & limb defects)
• Dolichol metabolism disorder
• Hyperimmunoglobulinemia D with periodic fever syndrome
• Methylsterol oxidase deficiency
• Mevalonate kinase deficiency
• Mevalonic aciduria
• Peroxisome biogenesis disorder (Zellweger spectrum disorder)
• Sitosterolemia
• Sjögren-Larsson syndrome
• Smith-Lemli-Opitz syndrome
• Sterol-C4-methyl oxidase deficiency (SC4MOL gene defect)
• Succinic semialdehyde dehydrogenase deficiency

Studies

• 7004: Sjögren-Larsson Syndrome (SLS): A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers - Sjögren-Larsson syndrome
• 7007: Effects of Fish Oil, Colesevelam, and Combination Therapy on Sterol Metabolism in Sitosterolemia - Sitosterolemia
• 7010: Quality of Life Survey in Zellweger Spectrum Disorder - Peroxisome Biogenesis Disorder (Zellweger spectrum disorder)