Coordinator

Coordinator, Chair LD

Prof. Laura De Rosa

University of Modena and Reggio Emilia, Italy

PhD

She is Associate Professor of Applied Biology at the University of Modena and Reggio Emilia (UNIMORE) and a researcher at the Centre for Regenerative Medicine “Stefano Ferrari”. Her research focuses on epithelial stem cell biology and the development of in vivo and ex vivo gene therapies for inherited epithelial disorders, with particular expertise in Epidermolysis Bullosa, genome editing, and the clinical translation of epithelial stem cell-based gene therapies.

Members

• HS

  Prof. Holm Schneider

  Center for Ectodermal Dysplasias, Erlangen, Germany

  Biography

  He heads the Center for Ectodermal Dysplasias Erlangen, the German national reference center for ectodermal dysplasias and p63-associated disorders. He discovered new genetic conditions, pioneered the prenatal drug therapy of congenital disorders, conducted numerous preclinical and clinical studies on life-threatening diseases and is the author of more than 200 scholarly papers.

  Holm Schneider obtained his M.D. from the University of Leipzig, Germany, and received board certifications in general pediatrics, emergency medicine, and neonatology. He was research fellow at Imperial College London, U.K., registrar at the University Hospital Erlangen, Germany, and Professor of Experimental Neonatology at Innsbruck Medical University, Austria, before returning to the University Hospital Erlangen where he has been working as Professor of Pediatrics since 2008.

• LT

  Dr. Licia Turolla

  Italy

  Biography

  MD, specialist in Medical Genetics and Paediatrics

  She was director of the Medical Genetics Unit at Treviso Hospital, a Regional Center accredited for the diagnosis and certification of rare diseases. Dr. Turolla has worked in all branches of genetics throughout her professional career; her main interest has been in rare diseases, congenital malformations and congenital malformation/intellectual disability syndromes.

• EP

  Dr. Elisa Paccagnella

  Institute IRCCS Burlo Garofolo, Trieste, Italy

  Biography

  MD

  She is a Specialist in Medical Genetics. Elisa currently works as a Medical Doctor at the Pediatric Institute IRCCS Burlo Garofolo, a Regional Reference Center and Research Institute accredited for the diagnosis of rare diseases. Actively involved in research, Dr. Paccagnella is now entering her final year of PhD training. Alongside her research activity, she is engaged in both inpatient and outpatient clinical care across all branches of genetics, with particular focus on complex and critical patients. Her main areas of interest include rare diseases, congenital malformations, and epilepsy/intellectual disability syndromes.

• FC

  Dr. Filippo Cavallari

  University of Padua (UNIPD), Italy

  Biography

  DDS, MDS

  Dental degree in 2011 at University of Padua, specialization in Orthodontics in 2021, Assistant Professor in the department of endodontics, faculty of dentistry at University of Padua. Dental doctor in Azienda Ospedaliera of Padua since 2022 and main reference for rare disease for dental clinic of Azienda Ospedaliera-University of Padua, in particular for ED treatment in young patients.

• PM

  Dr. Patricia Mark

  Medical College of Wisconsin

  Biography

  She is a Pediatric Health Psychologist at Children’s Wisconsin and an Associate Professor of Pediatrics at the Medical College of Wisconsin. She provides psychology services as part of the multidisciplinary Cleft Lip and Palate and Craniofacial teams at Children’s Wisconsin. Dr. Mark also works as part of the inpatient Pediatric Psychology Consultation Liaison team where she works with patients and families coping with chronic and acute illness and injury. Her areas of research and outreach include multidisciplinary care of youth with facial differences. She currently serves as the chair of the Cleft Lip and Palate/Craniofacial Special Interest Group of the Society of Pediatric Psychology. She is a member of the Scientific Advisory Board of the National Foundation for Ectodermal Dysplasias.

• CB

  Dr. Clayton Butcher

  University of Missouri, Columbia, USA

  Biography

  Associate Professor of Internal Medicine and Pediatrics; Internal Medicine & Pediatrics Program Director.

  He is a physician at the University of Missouri – Columbia in the United States and is board certified in Internal Medicine, Pediatrics, and Pediatric Hospital Medicine. He enjoys taking care of patients of all ages in his outpatient practice and having the opportunity to care for pediatric patients who are hospitalized. He was introduced to the National Foundation for Ectodermal Dysplasias through one of his mentors, Dr. Timothy Fete, and has had the pleasure of serving on their scientific advisory council since 2015.

• EG

  Dr. Eric Gabison

  Necker Hospital, Paris, France

  Biography

  Professor of ophthalmology (PU-PH) at Université Paris Cité since 2014. Head of the ophthalmology department at the Adolphe de Rothschild Foundation Hospital, Paris. Director, since 2018, of the T-REX laboratory, the Foundation's translational research lab in cornea and experimental surgery. Clinical and surgical practice in anterior segment: corneal transplantation (DALK, DMEK, DSAEK, penetrating keratoplasty), ocular surface reconstruction, inflammatory and infectious corneal disease, cataract, and refractive surgery.

• HA

  Dr. Helena Anjou

  Biography

  Biography coming soon.

• LK

  Dr. Laura Krogh Herlin

  Aarhus University Hospital, Skejby, Denmark

  Biography

  She is a medical doctor at Aarhus University Hospital, Denmark, currently training to become a dermatologist. In 2025, she completed her PhD on population-based studies of the prevalence, characteristics, and prognosis of ectodermal dysplasias in Denmark using nationwide health registries.