Our Faculty

Meet the Program Faculty

The Think Rare Program brings together an international faculty of leading experts in rare diseases who contribute their clinical expertise, research, and real-world experience to develop high-quality, evidence-based educational content.

SERENA

GASPERINI

Specialist in Metabolic and Neurogenetic Disorders

KLANE

WHITE

Professor, Chair of Pediatric Orthopedics

DAVID

MOLTER

Professor of Otolaryngology—Head & Neck Surgery

KRISTIN

MCKAY

President and Executive Director

ROLANDO

CIMAZ

Head of Pediatric Rheumatology Unit

SUSANNE

GERIT-KIRCHER

Ao.Univ. Prof. Dr MBA, LSD, Center of Pathobiochemistry and Genetics

OSKAR

AHLBERG

President Swedish MPS Association

STEWART

RUST

Consultant Paediatric Neuropsychologist

SIMON

JONES

Consultant in paediatric inherited metabolic diseases

PAUL

HARMATZ

Professor in Residence

MICHAELA

WEIGL

President of the Austrian MPS Society

MATTHIAS

SCHAFER

Clinic for Anesthesia, Intensive Care, Emergency Medicine and Pain Therapy

MARIA

GIZEWSKA

Professor, Vice Head of the Department of Pediatrics

JOSEPH

MUENZER

Professor Pediatric Genetics and Metabolism Genetics (Research)

JANE

ROBERTS

Clinical Nurse Specialist

FLORIAN

LAGLER

Head of the Institute for Hereditary Metabolic Diseases

HEATHER

LAU

Adjunct Assistant Professor

ELIZABETH

BRAUNLIN

Professor of Pediatric Cardiology

BIANCA

LINK

Senior Physician and Specialist Registrar

ANNA SOPHIE

HOFFMANN

Head and Neurocenter Clinic and Polyclinic for Ear, Nose and Throat

ATHIMALAIPET

RAMANAN

Professor, Consultant Paediatric Rheumatologist

AMEL

KARAA

Clinical Director, Lysosomal Storage Diseases Program

SYLVIA

KAMPHUIS

Pediatric Rheumatologist/Immunologist

MEHMET UMUT

AKYOL

ENT Program Track Chair - Professor of Otorhinolaryngology

ADRIANA

MONTANO

Ass. Prof., Department of Pediatrics and Department of Biochemistry and Molecular Biology School of Medicine

ALESSANDRO

CATTONI

Paediatric Endocrinologist, Consultant in General Paediatrics

VASIILICA

PLAIASU

Clinical Genetist

MAURIZIO

SCARPA

Professor, Regional Coordinating Center for Rare Diseases

ANDREA

BORGO

Orthopaedic Surgeon and Assistant Professor

RAYMOND Y.

WANG

Director of the Campbell Foundation Multidisciplinary Lysosomal Storage Disorder Program

MARTHA

SOLANO

Child neurologist

CAROLINA

FISCHINGER

Senior Geneticist

DAFNE

HOROVITZ

Clinical geneticist and pediatrician

CHRISTINA

LAMPE

Genetics Program Track Chair - Director of the Centre for Rare Diseases

HERMAN

AMARTINO

Jefe Neuropediatria en Hospital Universitario Austral Investigador Clínico Enfermedades Raras

AMARTINO, HERMAN

ROBERTO

GIUGLIANI

Professor, Department of Genetics

BARBARA K

BURTON

Professor of Pediatrics (Genetics, Genomics and Metabolism)

JULIE

EISENGART

Associate Professor, Director of the Neurodevelopmental Program in Rare Diseases

ANA MARIA

MARTINS

Director of Reference Center in Inborn Errors of Metabolism

ALLY

WALLACE

Parent Advocate

ANDREAS

ØBERG

Senior Consultant in Inborn Errors of Metabolism

ERIK

EKLUND

Consultant Pediatric Neurologist

SERENA

GASPERINI

Specialist in Metabolic and Neurogenetic Disorders

SAMUEL

GROSCHEL

Pediatric Neurologist

NICOLE

WOLF

Full Professor, Department of Child Neurology, Center for Childhood White Matter Diseases

INGEBORG

KRAEGELOH-MANN

Professor of Paediatrics, Managing Director University Children's Hospital, Medical Director Department of Paediatrics and Developmental Neurology

FEDERICA

DEODATO

Pediatric Neurologist in Division of Metabolism

DIPAK

RAM

Consultant Paediatric Neurologist

ALESSANDRA

BIFFI

Director of the Gene Therapy Program, Dana-Farber/Boston Children’s Cancer and Blood Disorders Center

ALBERTO

ZAMBON

Neurologist Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience

LUCIA

LAUGWITZ

Clinician scientist and child neurologist, Department of Neuropediatrics

ANGELS

GARCIA CAZORLA

Pediatric neurologist, Head of the Metabolic Diseases Unit

FRANCESCA

FUMAGALLI

Neurologist, Pediatric Immunohematology Unit and Department of Neurology

CAROLINE

SEVIN

Reference Center for Leukodystrophies

MIREIA

DEL TORO

Paediatrician, Specialist in Pediatric Neurology and Coordinator of the Metabolic Unit

PAUL

GISSEN

Professor of Paediatric Metabolic Medicine

ALEJANDRA

DARLING

Paediatric Neurologist

ANNA

ARDISSONE

Child Neurologist, Child Neurology Unit

AGNE

KERPAUSKIENE

Doctor Nephrologist

CLAUDIA

FALCAO-REIS

Medical Genetics Attending Physician

JOAO

DURAES

Neurologist and Head of the Neurogenetics Clinic

JULIA B.

HENNERMANN

Head of the Paediatric Metabolic Diseases Section

GIACOMO

BIASUCCI

Associate Professor of Pediatrics and Director of the Pediatrics and Neonatology Unit

SARAH

HAUPENTHAL

Psychological Psychotherapist

NATHALIE

GUFFON

Head of the department responsible for metabolic diseases

SOPHIE

THOMAS

Head of Patient Services

MONICA

LOPEZ RODRIGUEZ

Section Chief in Internal Medicine and Associate Professor, School of Medicine

CAN

FICICIOGLU

Professor of Pediatrics at the Children’s Hospital of Philadelphia

MERCEDES

GIL-CAMPOS

Professor of Pediatrics

MARTIN

MAGNER

Assoc. Professor, Department of Paediatrics, First Faculty of Medicine

KAROLINA

STEPIEN

Consultant in Adult Metabolic Medicine, Salford Royal NHS Foundation Trust; Honorary Senior Lecturer, University of Manchester

FLORIAN

LAGLER

Head of the Institute for Hereditary Metabolic Diseases

CHRISTINA

LAMPE

Genetics Program Track Chair - Director of the Centre for Rare Diseases

BARBARA K

BURTON

Professor of Pediatrics (Genetics, Genomics and Metabolism)

SUSANNA

ESPOSITO

Full Professor of Pediatrics & Director of Pediatric Clinic at the Pietro Barilla Hospital

MARINA

TRIVISANO

Consultant Pediatric Neurologist

PASQUALE

STRIANO

Full Professor of Pediatrics; Director of the Pediatric Neurology Unit

PAUL

GISSEN

Professor of Paediatric Metabolic Medicine

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