Find an Expert Across the RDCRN
Browse researchers, clinicians, and experts across the RDCRN consortia.
Inmaculada Aban, PhD
Myasthenia Gravis Rare Disease Network (MGNET)
University of Alabama at Birmingham
Expertise
Clinical trials, Statistical research methodology
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Denise Martin Adams, MD
Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC)
Children's Hospital of Philadelphia
Expertise
Vascular anomalies, Rare vascular tumors, Rare tumors, Education
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Laura A. Adang, MD, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Children's Hospital of Philadelphia
Expertise
Pediatric neurology, Leukodystrophy, Metachromatic leukodystrophy (MLD), Multiple sulfatase deficiency (MSD), x-linked adrenoleukodystrophy (ALD), Aicardi-Goutières syndrome (AGS)
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Nicholas Ah-Mew, MD
Rare Organic Acidemias Research Consortium (ROAR)
Children’s National Hospital
Expertise
Organic acidemias, Inborn errors of metabolism, Pediatric inherited metabolic disorders
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Erika Augustine, MD, MS
Batten Disease Clinical Research Consortium (BDCRC)
Kennedy Krieger Institute
Expertise
Neuronal ceroid lipofuscinoses (NCLs), Clinical trial design and operations
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Peter Baker, MD
Rare Organic Acidemias Research Consortium (ROAR)
University of Colorado Anschutz
Expertise
Organic acidemias, Inborn errors of metabolism, Pediatric metabolic disorders
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Tara Bamat, MD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Children's Hospital of Philadelphia
Expertise
Palliative care, Patient-physician communication, Trauma responsive care, Vicarious trauma, Physician well-being
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Peter Barker, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Johns Hopkins University
Expertise
Magnetic resonance imaging, Magnetic resonance spectroscopy, Quantitative imaging methods
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Martina Bebin, MD, MPA
Developmental Synaptopathies Consortium (DSC)
University of Alabama at Birmingham
Expertise
Tuberous sclerosis complex (TSC)
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Michael Benatar, MD
Myasthenia Gravis Rare Disease Network (MGNET)
University of Miami
Expertise
Myasthenia gravis, Amyotrophic lateral sclerosis (ALS)
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Susan Berry, MD
Rare Organic Acidemias Research Consortium (ROAR)
University of Minnesota
Expertise
Organic acidemias, Inborn errors of metabolism, Genetics, Metabolic disorders, Newborn screening and natural history studies
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Craig Blackstone, MD, PhD
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
Massachusetts General Hospital
Expertise
Molecular mechanisms of hereditary spastic paraplegia, Membrane trafficking, Endoplasmic reticulum biology
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Joshua L. Bonkowsky, MD, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
University of Utah Health
Expertise
Pediatric neurology, Leukodystrophy, x-linked adrenoleukodystrophy (ALD), Vanishing white matter disease (VWMD)
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Alexandra Borst, MD
Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC)
University of North Carolina
Expertise
Vascular anomalies, Rare vascular tumors, Hematologic abnormalities in vascular anomalies, Hereditary hemorrhagic telangiectasia (HHT), Hemostasis thrombosis
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Richard Boucher, MD
Rare Bronchiectatic Diseases Consortium (RBDC)
UNC Health
Expertise
Airway surface liquids, Epitheleal ion transport in human airway disease, Gene therapy, Novel therapy development for human lung disease
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Joshua Burns, PhD
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
St. Jude Children's Research Hospital
Expertise
Neuromuscular diseases, Hereditary spastic paraplegia (HSP), Wearable sensors, Rehabilitation science
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Lindsay Burrage, MD, PhD
Rare Organic Acidemias Research Consortium (ROAR)
Baylor College of Medicine
Expertise
Organic acidemias, Inborn errors of metabolism, Biochemical genetics, Translational research
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Daniel Calame, MD, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
Baylor College of Medicine
Expertise
Pediatric neurology, Hereditary spastic paraplegia (HSP), Cerebral palsy (CP), Clinical genetics, Pediatric genetics, Neurogenetics, Gene discovery
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Gang Chen, PhD
Rare Bronchiectatic Diseases Consortium (RBDC)
UNC Health
Expertise
Lung stem/progenitor cells, Airway mucins, Inflammation in health and diseases
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Michelle R. Christie, MD
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
Scottish Rite for Children
Expertise
Neuromuscular disorders, Hereditary spastic paraplegia (HSP)
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Stacey Clardy, MD, PhD
Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus Research Network (ARISEN)
University of Utah Health
Expertise
Autoimmune neurology
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Gary Cutter, PhD
Myasthenia Gravis Rare Disease Network (MGNET)
University of Alabama at Birmingham
Expertise
Clinical trial design, Analysis and interpretation, Epidemiological studies and evaluation research
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Hong Dang, PhD
Rare Bronchiectatic Diseases Consortium (RBDC)
UNC Health
Expertise
Bioinformatics, Genetics, Molecular biology, High-throughput data analysis, Biological databases and data mining, Biostatistics, Computer system administration
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An N. Dang Do, MD, PhD
Batten Disease Clinical Research Consortium (BDCRC)
Eunice Kennedy Shriver National Institute of Child Health and Human Development
Expertise
Cellular stress in development and diseases
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Shanlee Davis, MD, PhD
Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR)
University of Colorado Anschutz Medical Campus
Expertise
Cardiometabolic health and gonadal function in infants, children and adolescents with X and Y chromosome variations, including Klinefelter and Turner syndromes
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Stephanie Davis, MD
Rare Bronchiectatic Diseases Consortium (RBDC)
UNC Health
Expertise
Cystic fibrosis, Primary ciliary dyskinesia (PCD), Impact of preterm birth on lung disease
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Marie Y. Davis, MD, PhD
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
University of Washington Medical School
Expertise
Movement disorders, Hereditary spastic paraplegia (HSP), Neurogenetics
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Katherine (Alex) Despotes, MD
Rare Bronchiectatic Diseases Consortium (RBDC)
UNC Health
Expertise
Cystic fibrosis, Non-cystic fibrosis bronchiectasis, Modulator therapy
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Darius Ebrahimi-Fakhari, MD, PhD
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
Boston Children's Hospital
Expertise
Hereditary spastic paraplegia (HSP), Neurodegeneration, Pediatric neurology, Movement disorders, Neurogenetics
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Florian Eichler, MD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Massachusetts General Hospital
Expertise
Pediatric neurology, Leukodystrophy, x-linked adrenoleukodystrophy (ALD), Adrenomyeloneuropathy (AMN), Canavan disease (CD), CSF1R-related leukoencephalopathy (ALSP)
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Lisa T. Emrick, MD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Texas Children's Hospital
Expertise
Pediatric neurology, Leukodystrophy, Neurogenetics, Neurometabolics, Mitochondrial encephalomyopathy, Lacticacidosis, Strokelike episodes (MELAS)
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Charles Esther, MD, PhD
Rare Bronchiectatic Diseases Consortium (RBDC)
UNC Health
Expertise
Cystic fibrosis, Primary ciliary dyskinesia (PCD), Non-cystic fibrosis bronchiectasis
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S. Ali Fatemi, MD, MBA
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Kennedy Krieger Institute
Expertise
Pediatric neurology, Leukodystrophy, x-linked adrenoleukodystrophy (ALD), Adrenomyeloneuropathy (AMN), Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
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Richard S. Finkel, MD
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
St. Jude Children's Research Hospital
Expertise
Neuromuscular disorders, Hereditary spastic paraplegia (HSP), Clinical trial design
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Kristen Fisher, DO
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Baylor College of Medicine
Expertise
Pediatric neurology, Leukodystrophy, Neuroinflammatory disorders, Aicardi-Goutières syndrome (AGS)
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Brian T. Fisher, DO, MPH, MSCE
Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)
Children's Hospital of Philadelphia
Expertise
Infections in immunocompromised children
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Jeanne M. Franzone, MD
Brittle Bone Disorders Consortium (BBDC)
Nemours Children's Hospital
Expertise
Clubfoot, Fracture management, Limb length discrepancy, Osteogenesis imperfecta
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Jamie L. Fraser, MD, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Children’s National Medical Center
Expertise
Pediatric neurology, Leukodystrophy, Biochemical genetics, Medical genetics, Leukoencephalopathy with calcifications and cysts (LCC)
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Alexandra Freeman, MD
Rare Bronchiectatic Diseases Consortium (RBDC)
National Institutes of Health
Expertise
Primary immunodeficiencies, STAT3-Hyper IgE syndrome, Inborn errors of immunity
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Francesco Gavazzi, MD, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Children's Hospital of Philadelphia
Expertise
Pediatric neurology, Leukodystrophy, Outcome measure design and validation, Metachromatic leukodystrophy (MLD), TUBB4A-related Leukodystrophy, Pol III-related leukodystrophy, Pelizaeus-Merzbacher disease (PMD), Multiple sulfatase deficiency (MSD), Aicardi-Goutières syndrome (AGS), WDR45-related disorders
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Michael Gelb, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
University of Washington
Expertise
Clinical enzymology, Phospholipases, Protein prenylation, Anti-parasite therapeutics, Mass spectrometry, Newborn screening assay development
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Lindsey George, MD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Children's Hospital of Philadelphia
Expertise
Hemostasis and thrombosis disorders, Hemophilia gene therapy, Hemophilia
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Donald L. Gilbert, MD, MS
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
Cincinnati Children's Hospital Medical Center
Expertise
Pediatric neurology, Movement disorders, Hereditary spastic paraplegia (HSP)
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Allan Glanzman, DPT
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Children's Hospital of Philadelphia
Expertise
Neuromuscular disorders, Rehabilitation
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Grace Gombolay, MD
Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus Research Network (ARISEN)
Children's Healthcare of Atlanta
Expertise
Multiple sulfatase deficiency (MSD), ADEM, MOGAD, Neuromyelitis optica spectrum disorder
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Danielle Gomez Reynolds, MD
Brittle Bone Disorders Consortium (BBDC)
University South Florida
Expertise
Pediatric endocrinology
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Robert Grundmeier, MD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Children's Hospital of Philadelphia
Expertise
General pediatrics, Clinical informatics
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Adrienne Hammill, MD, PhD
Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC)
Cincinnati Children's Hospital Medical Center
Expertise
Vascular anomalies, Hereditary hemorrhagic telangiectasia (HHT), Sturge-Weber syndrome
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Lawrence Hirsch, MD
Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus Research Network (ARISEN)
Yale School of Medicine
Expertise
Adult epilepsy, NORSE/FIRES, Status epilepticus, Seizures, EEG monitoring
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Robyn Howarth, PhD, ABPP
Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus Research Network (ARISEN)
Children's Healthcare of Atlanta
Expertise
Pediatric autoimmune encephalitis
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Charles Howe, PhD
Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus Research Network (ARISEN)
Mayo Clinic Rochester
Expertise
Pediatric seizure disorders, CNS autoimmunity, Novel human model systems, Neuroimmunology, Neuroinflammation
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Jing Huang, PhD
Advancing Craniosynostosis Treatment Rare Diseases Consortium (ACT)
Perelman School of Medicine, University of Pennsylvania
Expertise
Biostatistics, Epidemiology
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Anna Huppler, MD
Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)
Medical College of Wisconsin
Expertise
Infections in immunocompromised children and adults
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Jennifer Hwang, MD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Children's Hospital of Philadelphia
Expertise
Palliative care, Patient-physician communication, Medical education
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Michael R. Jeng, MD
Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC)
Stanford Medicine
Expertise
Pediatric hematology, Vascular anomalies, Histiocytic disorders
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Shafali Jeste, MD
Developmental Synaptopathies Consortium (DSC)
University of California at Los Angeles
Expertise
Autism and related neurodevelopmental disorders
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Henry J. Kaminski, MD
Myasthenia Gravis Rare Disease Network (MGNET)
George Washington University
Expertise
Myasthenia gravis
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John Kane Fink, MD
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
University of Michigan Medical School
Expertise
Hereditary spastic paraplegia (HSP), Neurogenetics
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Mary Karalius, MD
Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus Research Network (ARISEN)
USCF Health
Expertise
Autoimmune and infectious encephalitis, MOGAD, NMO, ADEM, Transverse myelitis, Optic neuritis
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Stephanie Keller, MD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Emory University
Expertise
Pediatric neurology, Leukodystrophy
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Anna Kerr, PhD
Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC)
Washington University St. Louis
Expertise
Healthcare communication, Family-centered care, Qualitative research, Medical education
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Mehmet Kesimer, PhD
Rare Bronchiectatic Diseases Consortium (RBDC)
UNC Health
Expertise
Airway mucins, Mucus biochemistry, Proteomics, Chronic lung disease
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Alexander Kolevzon, MD
Developmental Synaptopathies Consortium (DSC)
Icahn School of Medicine at Mount Sinai
Expertise
Autism, Phelan-McDermid syndrome, FOXP1 syndrome, ADNP syndrome
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Deborah Krakow, MD
Brittle Bone Disorders Consortium (BBDC)
University of California Los Angeles
Expertise
Osteogenesis imperfecta
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Darcy Krueger, MD, PhD
Developmental Synaptopathies Consortium (DSC)
Cincinnati Children's Hospital Medical Center
Expertise
Tuberous sclerosis complex (TSC)
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Linda L. Kusner, PhD
Myasthenia Gravis Rare Disease Network (MGNET)
George Washington University
Expertise
Pathophysiology of myasthenia gravis
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Brendan Lee, MD, PhD
Brittle Bone Disorders Consortium (BBDC)
Baylor College of Medicine
Expertise
Developmental, translational and clinical studies of skeletal dysplasias and inborn errors of metabolism
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Janice Lee, DDS, MD, MS
Brittle Bone Disorders Consortium (BBDC)
National Institute of Dental and Craniofacial Research
Expertise
Craniofacial and oral anomalies
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Eric Chien-Wei Liao, MD, PhD
Advancing Craniosynostosis Treatment Rare Diseases Consortium (ACT)
Children's Hospital of Philadelphia
Expertise
Craniofacial genetics and biology, Cleft lip and palate repair, Complex pediatric reconstruction
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Feng-Chang Lin, PhD
Rare Bronchiectatic Diseases Consortium (RBDC)
UNC Health
Expertise
Development of novel statistical methods for modeling recurrent events
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Alessandra Livraghi-Butrico, PhD
Rare Bronchiectatic Diseases Consortium (RBDC)
UNC Health
Expertise
Animal models of inflammatory and obstructive lung diseases, Lung mucosal immunology, Mucus biology, Ex vivo phenotyping of human muco-inflammatory lung diseases
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Joana Mack, MD
Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC)
Arkansas Children's
Expertise
Vascular anomalies
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Eric Macklin, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Massachusetts General Hospital
Expertise
Neurodegenerative and neurodevelopmental diseases, Clinical trial design, Parkinson's disease, Amyotrophic lateral sclerosis (ALS)
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Micah T. McClain, MD, PhD
Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)
Duke University School of Medicine
Expertise
Biomarker based diagnostics and severity prediction tools
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Gerry McElvaney, MBBCh, FRCPI, DSc
Rare Bronchiectatic Diseases Consortium (RBDC)
Royal College of Surgeons in Ireland
Expertise
Alpha-1 antitrypsin deficiency (AATD), Cystic fibrosis, Proteases, Anti-proteases, Lung inflammation
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Dararat Mingbunjerdsuk, MD
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
Seattle Children's Hospital
Expertise
Pediatric neurology, Hereditary spastic paraplegia (HSP), Neurogenetics
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Ahmed Moustafa, PhD
Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)
Children's Hospital of Philadelphia
Expertise
Infectious disease genomics
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Kristy Murray, DVM, PhD
Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus Research Network (ARISEN)
Children's Healthcare of Atlanta
Expertise
Neuroimmunological diseases, Neuroinfectious diseases, Epidemiology
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Sandesh Nagamani, MBBS, MD, FACMG
Brittle Bone Disorders Consortium (BBDC)
Baylor College of Medicine
Expertise
Genetic disorders
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Amanda Nagy, MD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Massachusetts General Hospital
Expertise
Pediatric neurology, Leukodystrophy, Canavan disease (CD)
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Hope Northrup, MD
Developmental Synaptopathies Consortium (DSC)
The University of Texas Health Science Center at Houston
Expertise
Lysosomal storage diseases (LSDs), Tuberous sclerosis complex (TSC)
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Wanda O'Neal, PhD
Rare Bronchiectatic Diseases Consortium (RBDC)
UNC Health
Expertise
Molecular genetics, Molecular biology, Animal models of muco-obstructive lung disease, Cystic fibrosis, COPD, Primary ciliary dyskinesia (PCD), Bronchiectasis, Airway epithelial cell biology, Pulmonary disease
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Kenneth N. Olivier, MD, MPH
Rare Bronchiectatic Diseases Consortium (RBDC)
UNC Health
Expertise
Bronchiectasis, Nontuberculous mycobacteria, Primary ciliary dyskinesia (PCD)
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Eric Orwoll, MD
Brittle Bone Disorders Consortium (BBDC)
Oregon Health and Science University
Expertise
Endocrinology, Diabetes
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Kevin O’Connor, PhD
Myasthenia Gravis Rare Disease Network (MGNET)
Yale School of Medicine
Expertise
Neuroimmunology of myasthenia gravis
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Pratik Patel, MD
Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)
Children's Healthcare of Atlanta
Expertise
Pediatric transplant and oncology infectious disease, Leukemia/lymphoma, Diagnostics
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Paul J. Planet, MD, PhD
Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)
Children's Hospital of Philadelphia
Expertise
Microbial ecology and evolution, Bacterial pathogenesis and virulence, Microbiomics and genomics, Phylogenetics, Global spread of antimicrobial resistance, MRSA, Infection in cystic fibrosis
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Sam Pleasure, MD
Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus Research Network (ARISEN)
USCF Health
Expertise
Autoimmune neurology, Neurological autoantibody-associated conditions
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Brenda Porter, MD, PhD
Developmental Synaptopathies Consortium (DSC)
Stanford University Medical Center
Expertise
Tuberous sclerosis complex (TSC), Epilepsy, Epilepsy surgery, SLC13A5 epilepsy disorder
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Robert Potter, PhD
Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)
Children's Hospital of Philadelphia
Expertise
Infectious disease genomics, Clinical microbiology
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Siddharth Prakash, MD, PhD
Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR)
UT Health Houston
Expertise
Turner syndrome, Congenital heart disease, Cardiovascular genetics
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Cathleen Raggio, MD
Brittle Bone Disorders Consortium (BBDC)
Hospital for Special Surgery
Expertise
Skeletal dysplasia, Ehlers-Danlos, Scoliosis, Scoliosis research, Osteogenesis imperfecta
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Frank Rauch, MD
Brittle Bone Disorders Consortium (BBDC)
Shriners Hospital for Children
Expertise
Bone diseases in children
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Armin Raznahan, MD, PhD
Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR)
NIMH Intramural Research Program
Expertise
Clinical psychiatric phenotyping, Neuroimaging, Genomics, Computational biology
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Michelle Rengarajan, MD, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Massachusetts General Hospital
Expertise
Autoimmune endocrine disease, Epithelial-immune interactions, Human immunology, Immune-related adverse events, Quantitative cell biology, Single cell genomics, Systems immunology
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Mustafa Sahin, MD, PhD
Developmental Synaptopathies Consortium (DSC)
Boston Children’s Hospital
Expertise
Tuberous sclerosis complex (TSC)
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Nathan Schloemer, MD
Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC)
Children's Wisconsin
Expertise
Vascular anomalies, Precision medicine, Rare vascular tumors, Curling, Solid malignancies
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Adam J. Shapiro, MD
Rare Bronchiectatic Diseases Consortium (RBDC)
McGill University
Expertise
Primary ciliary dyskinesia (PCD), Non-cystic fibrosis bronchiectasis, Clinical phenotyping, Chronic respiratory disease in Indigenous populations
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Justine Shults, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Children's Hospital of Philadelphia
Expertise
Biostatistics, Clinical epidemiology
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Michael Shy, MD
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
University of Iowa
Expertise
Neuromuscular diseases, Neuropathies, Charcot-Marie-Tooth disease, Inherited neuropathies, Clinical trials
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Bryan Sisk, MD
Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC)
Washington University St. Louis
Expertise
Vascular malformations, Vascular anomalies, Pediatric oncology, Histiocytoses, Qualitative research, Patient-reported outcomes
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Pamela SW. Smith, MD
Brittle Bone Disorders Consortium (BBDC)
Phoenix Children's Hospital
Expertise
Pediatric bone disorders
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Peter Smith, MD
Brittle Bone Disorders Consortium (BBDC)
Shriners Hospital for Children / Marquette University
Expertise
Orthopaedic surgery, Orthopedics
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Amena Smith Fine, MD, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Kennedy Krieger Institute
Expertise
Pediatric neurology, Leukodystrophy, x-linked adrenoleukodystrophy (ALD), Adrenomyeloneuropathy (AMN), Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
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Betty Soliven, MD
Myasthenia Gravis Rare Disease Network (MGNET)
University of Chicago
Expertise
Myasthenia, CIDP, Amyotrophic lateral sclerosis (ALS), Myopathies
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Latha Soorya, PhD
Developmental Synaptopathies Consortium (DSC)
Rush University Medical Center
Expertise
Pediatric and adolescent psychology
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Daniel Spielman, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Stanford University
Expertise
Magnetic resonance imaging, Magnetic resonance spectroscopy, Quantitative imaging methods
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Isha Srivastava, MD, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Stanford University
Expertise
Pediatric neurology, Leukodystrophy, x-linked adrenoleukodystrophy (ALD), Cerebral palsy (CP)
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Jeffrey M. Statland, MD
Myasthenia Gravis Rare Disease Network (MGNET)
University of Kansas Medical Center
Expertise
Facioscapulohumeral muscular dystrophy (FSHD)
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William J. Steinbach, MD
Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)
Arkansas Children's
Expertise
Infections in immunocompromised children
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Julie M. Steinbrink, MD, MHS
Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)
Duke University School of Medicine
Expertise
Infections in immunocompromised adults, Fungal infections, Noninvasive host biomarkers of infection
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Eric Storch, PhD
Brittle Bone Disorders Consortium (BBDC)
Baylor College of Medicine
Expertise
Assessment and treatment of children, adolescents and adults with obsessive-compulsive and related disorders (i.e., OCD, Tourette, hairpulling disorder, skinpicking, misophonia) and anxiety disorders
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John Strang, PsyD
Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR)
Children's National
Expertise
Gender-diverse youth health, Neurodivergence, Advocacy, Community-based research
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Coral Stredny, MD
Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus Research Network (ARISEN)
Boston Children's Hospital
Expertise
Rasmussen syndrome, NORSE/FIRES, Autoimmune encephalitis, Pediatric epilepsy/seizures, Autoimmune neurology
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V. Reid Sutton, MD
Brittle Bone Disorders Consortium (BBDC)
Rare Organic Acidemias Research Consortium (ROAR)
Baylor College of Medicine
Expertise
Diagnosis of genetic syndromes, Dysmorphology, Genetic mechanisms of disease, Inborn errors of metabolism, Skeletal dysplasia, Organic acidemias, Inherited metabolic disorders, NIH-sponsored clinical trials & natural history studies
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Nicole Tartaglia, MD
Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR)
University of Colorado Anschutz Medical Campus
Expertise
Developmental-behavioral pediatrics
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Jesse A. Taylor, MD
Advancing Craniosynostosis Treatment Rare Diseases Consortium (ACT)
Children's Hospital of Philadelphia
Expertise
Cleft lip and palate repair, Congenital and acquired deformities of the skull and face, Craniosynostosis, Facial asymmetry, Jaw surgery, Ear deformities, Plastic surgery
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Laura Tosi, MD
Brittle Bone Disorders Consortium (BBDC)
Children’s National Medical Center
Expertise
Rare bone disease, Bone health, Trauma
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Bela Turk, MD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Kennedy Krieger Institute
Expertise
Pediatric neurology, Leukodystrophy, Outcome measure design and validation, x-linked adrenoleukodystrophy (ALD), Adrenomyeloneuropathy (AMN), Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
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Mark Urata, MD, DDS
Advancing Craniosynostosis Treatment Rare Diseases Consortium (ACT)
Children's Hospital of Los Angeles
Expertise
Complex craniofacial anomalies, Craniosynostosis, Syndromic reconstruction, Jaw surgery, Jaw deformities
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Keith P. Van Haren, MD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Stanford Children's Health
Expertise
Pediatric neurology, Leukodystrophy, Adrenoleukodystrophy (ALD), Acute flaccid myelitis (AFM)
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Adeline L. Vanderver, MD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Children's Hospital of Philadelphia
Expertise
Pediatric neurology, Leukodystrophy, Metachromatic leukodystrophy (MLD), TUBB4A-related Leukodystrophy, Pol III-related leukodystrophy, Pelizaeus-Merzbacher disease (PMD), Aicardi-Goutières syndrome (AGS), Adrenoleukodystrophy (ALD), Undiagnosed leukodystrophies, Next generation sequencing
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Danita Velasco, MD, FAAP, FACMG
Brittle Bone Disorders Consortium (BBDC)
University of Nebraska Medical Center
Expertise
Pediatric genetics
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Jennifer Vermilion, MD
Batten Disease Clinical Research Consortium (BDCRC)
University of Rochester Medicine
Expertise
Batten diseases, Tourette syndrome
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Donald Vinh, MD, FRCPC, FACP
Rare Bronchiectatic Diseases Consortium (RBDC)
McGill University
Expertise
Primary immunodeficiencies/inborn errors of immunity (i.e. humoral immuno deficiencies/HID), Molecular genetics, Functional immunology, Novel therapies
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Gerard Vockley, MD, PhD
Rare Organic Acidemias Research Consortium (ROAR)
University of Pittsburgh, School of Medicine
Expertise
Organic acidemias, Inborn errors of metabolism, Translational research, Industry sponsored clinical trials
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Amy T. Waldman, MD, MSCE
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Children's Hospital of Philadelphia
Expertise
Pediatric neurology, Leukodystrophy, Alexander disease, Krabbe disease (KD), Canavan disease (CD), Adrenoleukodystrophy (ALD), Vanishing white matter disease (VWMD)
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Rachel Wattier, MD, MHS
Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)
UCSF Benioff Children's Hospitals
Expertise
Pediatric infectious diseases clinical epidemiology and health services research, Implementation science, Patient and family engagement, Qualitative and mixed methods research
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Jill Weimer, PhD
Batten Disease Clinical Research Consortium (BDCRC)
Sanford Health
Expertise
Rare neuropediatric diseases and neurodevelopment
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Nathan P. Wiederhold, PharmD
Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)
University of Texas, San Antonio
Expertise
Antifungal susceptibility, Clinical diagnostics, Antifungal PK/PD, Investigational antifungals
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Michael Wilson, MD, MA
Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus Research Network (ARISEN)
USCF Health
Expertise
Infectious and autoimmune syndromes of the central nervous system
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Matthew Wolfgang, PhD
Rare Bronchiectatic Diseases Consortium (RBDC)
UNC Health
Expertise
Respiratory microbiome, Respiratory infection biology, Airway cell culture models of infection, Pseudomonas aeruginosa pathogenesis, Antibiotic treatment failure
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Melinda Wu, MD, MCR
Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC)
Brittle Bone Disorders Consortium (BBDC)
Oregon Health and Science University
Expertise
Vascular anomalies, Pediatric hematology, Cancer and cellular therapy survivorship, Understanding skeletal fragility of children and young adults
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Joseph P. Zackular, PhD
Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)
Children's Hospital of Philadelphia
Expertise
Microbial ecology, Microbiome, Bacterial pathogenesis and virulence, Enteric infection, Clostridioides difficile infection, Genomics
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Stephan Züchner, MD, PhD
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
University of Miami
Expertise
Genomics, Neurogenetics, Gene discovery
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