ADNP Conference Day 1 Summary

Day 1: science, sex differences and gene regulation

Wednesday 9 September 2026, Grauwzusters Klooster, Antwerp

We open the Third Conference on ADNP-related and other Neurodevelopmental Disorders in the Grauwzusters Klooster in Antwerp. The registration desk opens at nine. People arrive, badges go on and the room fills with researchers and clinicians who mostly know each other from papers rather than from the corridor. At a quarter to ten the organising committee welcomes everyone. The Center of Medical Genetics (UZA/UA) hosts, with Prof. dr. em. R. Frank Kooy and Dr. Claudio Peter D’Incal, supported by the European ADNP association.

Morning session

Claudio D’Incal chairs the morning.

Dr. Claudio Peter D’Incal (UZA/UA) opens with The Female Side of Autism: Sexual Dichotomies impacting the Helsmoortel-Van der Aa syndrome pathology. He looks at the differences between males and females, and at what those differences mean for how the syndrome is studied.

Prof. Dr. Illana Gozes (Chair Exonavis Therapeutics, LTD) picks up the same thread with ADNP is associated with sex differences. Two talks, one theme, and the room settles into it early.

During the coffee groups form around posters to discuss and understand what is presented.

Two short communications follow. Israel Moalem presents work on davunetide, also known as NAP, an investigational peptide derived from the ADNP protein. He describes a study in a mouse model of Dravet syndrome, a severe developmental and epileptic condition linked to the SCN1A gene, and the proteomic analysis his team at Tel Aviv University performs alongside it.

Lusine Harutyunyan (UZA/UA) presents a systematic review of the published literature on people with a genetically confirmed diagnosis of Helsmoortel-Van der Aa syndrome. She walks us through how the team gathers clinical features, comorbidities, developmental milestones and molecular findings from across the studies. She also discusses methylation profiling of the ADNP gene.

Prof. Dr. Emanuela Pascuito (VIB/UA) closes the morning with Immunological aspects of ADNP, on the links between ADNP and the immune system. Lunch follows, and the queue at the sandwich table is where half the collaborations of this week probably start.

Afternoon session

Frank Kooy chairs the afternoon.

Prof. Dr. Pierre Mattar (University of Ottawa) opens with A role of ADNP in balancing gene regulation during neurodevelopment. Gene regulation is the timing question of brain development. Which genes switch on, which switch off, and when. He talks about where ADNP sits in that balance.

Dr. Marcus Kaji presents on KCNQ2, a gene encoding part of a potassium channel involved in neuronal excitability. His group grows neurons from patient-derived stem cell lines and measures their electrical activity on high-density microelectrode arrays. He explains how that setup works as a screening platform.

Dr. Mathijs Van der Lei (UZA/UA) turns to GAD2, one of the two genes behind the enzyme that produces GABA. He describes individuals from unrelated families carrying variants in both copies of the gene, and the mouse model his team characterises alongside them.

After the tea break the programme moves to research directions at the molecular level.

Prof. Dr. Zhen Yan (University at Buffalo) discusses the mechanisms behind ADNP deficiency in autism, and the strategies researchers are exploring on the back of them.

Prof. Dr. David Segal (UCDavis Health) speaks on RNA therapy for Helsmoortel-Van der Aa syndrome, and what research at the RNA level involves.

Prof. Dr. Joseph Buxbaum (Mount Sinai) closes the day with work on small molecules that target mRNA, and what that approach looks like as a research direction for the syndrome.

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