The Scientific and Clinical Council

Researchers, geneticists and clinicians committed to understanding BBSOAS and improving patient care.

President of the scientific and clinical council

Dr Michèle Studer

Inserm Research Director in Nice

Dr Michèle Studer is a researcher in developmental biology, interested in the growth and differentiation of the mammalian brain. She has worked in London, the United States, Italy and finally in France, in Nice, where she has led an Inserm team since 2009.

While searching for genes involved in the formation of the cortex, she came across NR2F1 and never let it go. Her publications on the role of Nr2f1 in mice have helped to better understand the human pathology.

Today, her team seeks to decipher how the mutations identified in patients contribute to the mechanisms of this rare disease. With the help of researchers, clinicians, geneticists and above all patients and their families, the goal is to advance research and improve the care and well-being of young patients.

Dr Michele Bertacchi

Italian researcher, Inserm in Nice

Always interested in studying brain development, he left the École Normale Supérieure of Pisa (Italy) in 2014 to join Dr Michèle Studer’s team in Nice, thanks to a young researcher grant from the City of Nice. Now a research fellow at Inserm (rare genetic diseases), he has become a long-term member of the Studer team.

His aim is to study the role of the NR2F1 gene during development and to understand how genetic mutations can affect its molecular and cellular function.

Pr Gaëtan Lesca

Medical geneticist (PU-PH), genetics department, Groupement Hospitalier Est, Lyon

Prof. Gaëtan Lesca is a medical geneticist at the Hospices Civils de Lyon and a professor of genetics at the Lyon Est faculty (Université Claude Bernard Lyon 1). He is involved in the genetic diagnosis of neurodevelopmental disorders, in particular epilepsies, brain malformations and intellectual disabilities.

He also carries out research at the university hospital and within the NeuroMyoGène institute. He has contributed to the identification of several genes involved in these diseases and to numerous studies on genotype-phenotype correlations.

Pr Christian Schaaf

Medical Director and Chair of the Department of Human Genetics, Heidelberg University (Germany)

Christian is a physician-scientist who wants to understand how genes influence human cognition and behaviour. His laboratory in Heidelberg studies the genetic basis of neurodevelopmental and neuropsychiatric disorders, with an emphasis on translational research: all his projects involve patients he has met in the clinic.

He described the first six individuals carrying NR2F1 mutations in 2013 and has since contributed to a better understanding of the genetics, clinical features and molecular pathways of what is now known as “Bosch-Boonstra-Schaaf Optic Atrophy Syndrome” (BBSOAS). He is also the author of textbooks, including “Human Genetics – From Molecules to Medicine”, with a foreword by Nobel laureate James Watson.

Pr Silvia De Marchis

Neurobiologist and Associate Professor at the University of Turin (Italy)

Silvia De Marchis leads a research team working mainly on mouse models to study brain plasticity in adulthood. Her work aims to understand how plasticity mechanisms, essential to cognitive functions, are modulated by experience and disrupted by disease, in particular through the study of neurogenesis in the hippocampus and the olfactory bulb.

For several years, her team has been studying the role of the NR2F1 gene in the adult brain using animal models of BBSOAS. Studies in mice have shown that altering this gene interferes with brain plasticity and is accompanied by mitochondrial dysfunctions that may contribute to cognitive disorders. Ongoing work explores new therapeutic avenues.

Dott. Ivan La Torraca

Child neuropsychiatrist, Azienda Universitaria Integrata di Verona (Italy)

A young Italian doctor specialising in the study of epilepsy in Bosch-Boonstra-Schaaf syndrome, he obtained his medical degree and then his specialisation in child and adolescent neuropsychiatry at the University of Verona, with the highest marks, on the topic of the electroclinical features of epilepsy in BBSOAS.

He works at the Women’s and Children’s Hospital in Verona. Motivated by the NR2F1 France day in Paris (December 2025) and the Orlando conference (April 2026) where he presented his first results, he now connects Italian families of BBSOAS patients to raise awareness and support future scientific and clinical initiatives in Italy.

Resource for families

Understanding a genetic test

A practical guide to understanding how to read the result of a genetic study, available in several languages:

Publications & events

Research

Family · Clinician · Researcher Days

11 March 2022 — Day on BBSOAS (NR2F1 gene mutations). Watch the researchers’ presentations: YouTube video.

8 December 2023 — 8th Families, Clinicians, Researchers meeting, 2nd BBSOAS Day: YouTube video.