Workshop on Lesch-Nyhan Disease

The workshop will be an opportunity to level the current state of research on Lesch-Nyhan Disease, to exchange ideas and identify possible collaborations.

To allow participants to freely meet and discuss, the event will be held through Microsoft Teams videoconferencing. All connection details will be sent in the next few days.

If not done yet, please reach us at  to confirm your attendance!

The following presentations are already planned:

June 7th (starting 14h, Paris time):

  • H. A. Jinnah, MD, PhD - Emory University School of Medicine (USA).

What's New in Lesch-Nyhan Disease?

  • Anna Bozano - Psychologist Psychotherapist, LND Famiglie Italiane ONLUS (Italy).

The neurobehavioral disorder in Lesch-Nyhan Disease: description and management.

  • Elisa De Grandis, MD, PhD - Associate Professor Child Neuropsychiatry, Giannina Gaslini Institute (Italy).

Lesch Nyhan Disease: extrapyramidal neurological phenotype and behavioral symptoms in an Italian series of patients, retrospective and cross-sectional study.

  • Dr Mar García Romero - Department of Pediatric Neurology, Hospital la Paz (Spain).

Use of botulinum toxin in treatment of Lesch-Nyhan Disease (title to be confirmed).

  • Céline Petitgas, PhD - Brain Plasticity Unit, ESPCI Paris (France).

Metabolic and neurobehavioral disturbance induced by purine recycling deficiency in a Drosophila model of Lesch-Nyhan disease.

June 8th (starting 14h, Paris time):

  • Jasper E. Visser, MD, PhD - Department of Neurology, Radboud university medical center (The Netherlands).

Lesch-Nyhan disease as a developmental disorder of the brain.

  • Christian J. Hinderer, MC, PhD - Gene Therapy Team, Perelman School of Medicine, University of Pennsylvania (USA).

Gene therapy project (title to be confirmed).

  • Claire Boissart, Engineer - Development of dopaminergic neurons, Lesch-Nyhan Disease, IStem (France).

Rescuing compounds for Lesch-Nyhan disease identified using stem cell–based phenotypic screening.

  • Dr Maria Rosa Caruso    Nephrology, Bergamo Hospital (Italy).

Kidney disease in HPRT deficiency.

  • Dr Paola Torreri - National Centre for Rare Diseases, Higher Institue of Health (Italy).

Lesch-Nyhan Disease: Registry for clinical research.

We thank you in advance for your collaboration and look forward to meeting you at the workshop!

The European Federation Lesch-Nyhan Disease (LNDE)