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Find an Expert Across the RDCRN

Browse researchers, clinicians, and experts across the RDCRN consortia.

A photo of Inmaculada Aban, PhD.
Inmaculada Aban, PhD
Myasthenia Gravis Rare Disease Network (MGNET)

University of Alabama at Birmingham

Expertise Clinical trials, Statistical research methodology

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A photo of Denise Martin Adams, MD.
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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A photo of Laura A. Adang, MD, PhD.
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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A photo of Erika Augustine, MD, MS.
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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A photo of Martina Bebin, MD, MPA.
Martina Bebin, MD, MPA
Developmental Synaptopathies Consortium (DSC)

University of Alabama at Birmingham

Expertise Tuberous sclerosis complex (TSC)

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A photo of Michael Benatar, MD.
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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A photo of Craig Blackstone, MD, PhD.
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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A photo of Joshua L. Bonkowsky, MD, PhD.
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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A photo of Alexandra Borst, MD.
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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A photo of Richard Boucher, MD.
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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A photo of Joshua Burns, PhD.
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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A photo of Daniel Calame, MD, PhD.
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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A photo of Gang Chen, PhD.
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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A photo of Michelle R. Christie, MD.
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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A photo of Stacey Clardy, MD, PhD.
Stacey Clardy, MD, PhD
Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus Research Network (ARISEN)

University of Utah Health

Expertise Autoimmune neurology

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A photo of Gary Cutter, PhD.
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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A photo of Hong Dang, PhD.
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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A photo of An N. Dang Do, MD, PhD.
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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A photo of Shanlee Davis, MD, PhD.
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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A photo of Stephanie Davis, MD.
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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A photo of Marie Y. Davis, MD, PhD.
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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A photo of Katherine (Alex) Despotes, MD.
Katherine (Alex) Despotes, MD
Rare Bronchiectatic Diseases Consortium (RBDC)

UNC Health

Expertise Cystic fibrosis, Non-cystic fibrosis bronchiectasis, Modulator therapy

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A photo of Darius Ebrahimi-Fakhari, MD, PhD.
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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A photo of Florian Eichler, MD.
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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A photo of Lisa T. Emrick, MD.
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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A photo of Charles Esther, MD, PhD.
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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A photo of S. Ali Fatemi, MD, MBA.
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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A photo of Richard S. Finkel, MD.
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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A photo of Kristen Fisher, DO.
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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A photo of Brian T. Fisher, DO, MPH, MSCE.
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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A photo of Jamie L. Fraser, MD, PhD.
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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A photo of Alexandra Freeman, MD.
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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Placeholder for team member.
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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A photo of Michael Gelb, PhD.
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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A photo of Lindsey George, MD.
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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A photo of Donald L. Gilbert, MD, MS.
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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A photo of Grace Gombolay, MD.
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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Placeholder for team member.
Danielle Gomez Reynolds, MD
Brittle Bone Disorders Consortium (BBDC)

University South Florida

Expertise Pediatric endocrinology

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A photo of Robert Grundmeier, MD.
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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A photo of Adrienne Hammill, MD, PhD.
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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A photo of Lawrence Hirsch, MD.
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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A photo of Robyn Howarth, PhD, ABPP.
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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A photo of Charles Howe, PhD.
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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A photo of Jing Huang, PhD.
Jing Huang, PhD
Advancing Craniosynostosis Treatment Rare Diseases Consortium (ACT)

Perelman School of Medicine, University of Pennsylvania

Expertise Biostatistics, Epidemiology

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A photo of Anna Huppler, MD.
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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A photo of Jennifer Hwang, MD.
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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A photo of Michael R. Jeng, MD.
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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A photo of Shafali Jeste, MD.
Shafali Jeste, MD
Developmental Synaptopathies Consortium (DSC)

University of California at Los Angeles

Expertise Autism and related neurodevelopmental disorders

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A photo of Henry J. Kaminski, MD.
Henry J. Kaminski, MD
Myasthenia Gravis Rare Disease Network (MGNET)

George Washington University

Expertise Myasthenia gravis

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A photo of John Kane Fink, MD.
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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A photo of Mary Karalius, MD.
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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A photo of Stephanie Keller, MD.
Stephanie Keller, MD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)

Emory University

Expertise Pediatric neurology, Leukodystrophy

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A photo of Anna Kerr, PhD.
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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A photo of Mehmet Kesimer, PhD.
Mehmet Kesimer, PhD
Rare Bronchiectatic Diseases Consortium (RBDC)

UNC Health

Expertise Airway mucins, Mucus biochemistry, Proteomics, Chronic lung disease

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A photo of Alexander Kolevzon, MD.
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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A photo of Deborah Krakow, MD.
Deborah Krakow, MD
Brittle Bone Disorders Consortium (BBDC)

University of California Los Angeles

Expertise Osteogenesis imperfecta

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A photo of Darcy Krueger, MD, PhD.
Darcy Krueger, MD, PhD
Developmental Synaptopathies Consortium (DSC)

Cincinnati Children's Hospital Medical Center

Expertise Tuberous sclerosis complex (TSC)

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A photo of Linda L. Kusner, PhD.
Linda L. Kusner, PhD
Myasthenia Gravis Rare Disease Network (MGNET)

George Washington University

Expertise Pathophysiology of myasthenia gravis

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A photo of Brendan Lee, MD, PhD.
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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A photo of Janice Lee, DDS, MD, MS.
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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A photo of Eric Chien-Wei Liao, MD, PhD.
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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A photo of Feng-Chang Lin, PhD.
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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A photo of Alessandra Livraghi-Butrico, PhD.
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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A photo of Joana Mack, MD.
Joana Mack, MD
Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC)

Arkansas Children's

Expertise Vascular anomalies

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A photo of Eric Macklin, PhD.
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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A photo of Micah T. McClain, MD, PhD.
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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A photo of Gerry McElvaney, MBBCh, FRCPI, DSc.
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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A photo of Dararat Mingbunjerdsuk, MD.
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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A photo of Ahmed Moustafa, PhD.
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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A photo of Kristy Murray, DVM, PhD.
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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A photo of Sandesh Nagamani, MBBS, MD, FACMG.
Sandesh Nagamani, MBBS, MD, FACMG
Brittle Bone Disorders Consortium (BBDC)

Baylor College of Medicine

Expertise Genetic disorders

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A photo of Amanda Nagy, MD.
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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A photo of Hope Northrup, MD.
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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A photo of Wanda O'Neal, PhD.
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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A photo of Kenneth N. Olivier, MD, MPH.
Kenneth N. Olivier, MD, MPH
Rare Bronchiectatic Diseases Consortium (RBDC)

UNC Health

Expertise Bronchiectasis, Nontuberculous mycobacteria, Primary ciliary dyskinesia (PCD)

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A photo of Eric Orwoll, MD.
Eric Orwoll, MD
Brittle Bone Disorders Consortium (BBDC)

Oregon Health and Science University

Expertise Endocrinology, Diabetes

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A photo of Kevin O’Connor, PhD.
Kevin O’Connor, PhD
Myasthenia Gravis Rare Disease Network (MGNET)

Yale School of Medicine

Expertise Neuroimmunology of myasthenia gravis

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A photo of Pratik Patel, MD.
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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A photo of Paul J. Planet, MD, PhD.
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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A photo of Sam Pleasure, MD.
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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A photo of Brenda Porter, MD, PhD.
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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A photo of Robert Potter, PhD.
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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A photo of Siddharth Prakash, MD, PhD.
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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A photo of Cathleen Raggio, MD.
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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A photo of Frank Rauch, MD.
Frank Rauch, MD
Brittle Bone Disorders Consortium (BBDC)

Shriners Hospital for Children

Expertise Bone diseases in children

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A photo of Armin Raznahan, MD, PhD.
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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A photo of Michelle Rengarajan, MD, PhD.
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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A photo of Mustafa Sahin, MD, PhD.
Mustafa Sahin, MD, PhD
Developmental Synaptopathies Consortium (DSC)

Boston Children’s Hospital

Expertise Tuberous sclerosis complex (TSC)

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A photo of Nathan Schloemer, MD.
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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A photo of Adam J. Shapiro, MD.
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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A photo of Justine Shults, PhD.
Justine Shults, PhD
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)

Children's Hospital of Philadelphia

Expertise Biostatistics, Clinical epidemiology

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A photo of Michael Shy, MD.
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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A photo of Bryan Sisk, MD.
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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A photo of Pamela SW. Smith, MD.
Pamela SW. Smith, MD
Brittle Bone Disorders Consortium (BBDC)

Phoenix Children's Hospital

Expertise Pediatric bone disorders

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A photo of Peter Smith, MD.
Peter Smith, MD
Brittle Bone Disorders Consortium (BBDC)

Shriners Hospital for Children / Marquette University

Expertise Orthopaedic surgery, Orthopedics

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A photo of Amena Smith Fine, MD, PhD.
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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A photo of Betty Soliven, MD.
Betty Soliven, MD
Myasthenia Gravis Rare Disease Network (MGNET)

University of Chicago

Expertise Myasthenia, CIDP, Amyotrophic lateral sclerosis (ALS), Myopathies

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A photo of Latha Soorya, PhD.
Latha Soorya, PhD
Developmental Synaptopathies Consortium (DSC)

Rush University Medical Center

Expertise Pediatric and adolescent psychology

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A photo of Daniel Spielman, PhD.
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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Placeholder for team member.
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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A photo of Jeffrey M. Statland, MD.
Jeffrey M. Statland, MD
Myasthenia Gravis Rare Disease Network (MGNET)

University of Kansas Medical Center

Expertise Facioscapulohumeral muscular dystrophy (FSHD)

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A photo of William J. Steinbach, MD.
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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A photo of Julie M. Steinbrink, MD, MHS.
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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A photo of Eric Storch, PhD.
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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A photo of John Strang, PsyD.
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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A photo of Coral Stredny, MD.
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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A photo of V. Reid Sutton, MD.
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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A photo of Nicole Tartaglia, MD.
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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A photo of Jesse A. Taylor, MD.
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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A photo of Laura Tosi, MD.
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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A photo of Keith P. Van Haren, MD.
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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A photo of Adeline L. Vanderver, MD.
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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A photo of Danita Velasco, MD, FAAP, FACMG.
Danita Velasco, MD, FAAP, FACMG
Brittle Bone Disorders Consortium (BBDC)

University of Nebraska Medical Center

Expertise Pediatric genetics

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A photo of Jennifer Vermilion, MD.
Jennifer Vermilion, MD
Batten Disease Clinical Research Consortium (BDCRC)

University of Rochester Medicine

Expertise Batten diseases, Tourette syndrome

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A photo of Donald Vinh, MD, FRCPC, FACP.
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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A photo of Amy T. Waldman, MD, MSCE.
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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A photo of Rachel Wattier, MD, MHS.
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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A photo of Jill Weimer, PhD.
Jill Weimer, PhD
Batten Disease Clinical Research Consortium (BDCRC)

Sanford Health

Expertise Rare neuropediatric diseases and neurodevelopment

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A photo of Nathan P. Wiederhold, PharmD.
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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A photo of Michael Wilson, MD, MA.
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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A photo of Matthew Wolfgang, PhD.
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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A photo of Melinda Wu, MD, MCR.
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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A photo of Joseph P. Zackular, PhD.
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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A photo of Stephan Züchner, MD, PhD.
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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