AGO2

About us

Our story

In late 2020 Nora and Christoph's 7-month old daughter was diagnosed with a rare gene mutation in AGO2. 21 cases were known worldwide at the time, among them Antje's son Finn who was the first to be diagnosed.

Little was known about this novel disease, the prognosis given was devastating and we were told that there was nothing that could be done. So together we set out to connect families and do the impossible to enable our children to develop like other children. AGO2 Association was born.

Our vision

A world where every person with Argonaute syndrome can thrive

Our mission

AGO2 Association is a non-profit organization dedicated to improving the life of children and families impacted by AGO2 (Lessel-Kreienkamp/Leskres) syndrome by

  1. Finding and funding paths to treatment. Because many rare diseases affect so few patients, pharmaceutical companies neglect to fund early translational research, and today it sadly is up to parents to advance science & medicine.

  2. Connecting families. Because AGO2 syndrome is both rare and new, patients are isolated and little is known about caring for our children. Uniting families and identifying more patients is vital.

  3. Raising awareness. Because AGO2 syndrome is poorly known, we need to spread awareness and make high-quality, reviewed information available.

We are registered as a tax-exempt association in Switzerland (J0002264973, CH-020-6002909-9) and are a partner of Transnational Giving Europe and the Rare Village Foundation. Our articles (original signed in German). Our annual report 2021.

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Team

Nora Leonardi, PhD

Co-founder & President

Mother of Paula. PhD in Biomedical Engineering from EPFL, visiting researcher at Stanford University, now R&D Manager at Swiss Reinsurance Company

Christoph Basten, PhD

Co-founder & Vice-President

Father of Paula. Professor of Finance

Antje Bulmann

Patient Relations

Mother of Finn and initiator of our Facebook parent support group. InnovationX Venture Builder at Airbus.

Silvio Leonardi,PhD

Accounting

Grandfather of Paula. Makes sure our books are accurate

Naomi Tudor

US Regional Parent Lead

Mother of Holly (AGO1)

Stefan Kempf

Design & Website

Uncle of Paula. Responsible for design and website development. Currently freelancing Web & Multimedia Specialist at vanilla.ch.

Vacant

Please reach out if you wish to support us with any of the below:

  • Communications: Establish an active public presence on social media (Facebook page, Instagram). Craft newsletters for our community

  • Patient registry champion: Support or drive the creation of our own patient registry

  • Regional parent leads: Be the contact for patient families in your country. Ideally, establish a local non-profit organization with tax-exempt status

Scientific advisory board

Dr. Davor Lessel

Scientist, Institute of Human Genetics, University Medical Center Hamburg-Eppendorf

First to document Lessel-Kreienkamp syndrome (AGO2 gene) in Lessel et al. 2020

Prof. Hans-Jürgen Kreienkamp

Professor, Institute of Human Genetics, University Medical Center Hamburg-Eppendorf

First to document Lessel-Kreienkamp syndrome (AGO2 gene) in Lessel et al. 2020. Bio

Prof. Gunter Meister

Professor, Department of Biochemistry I, University of Regensburg

Leading researcher on RNA-guided gene silencing and AGO2. Bio

Prof. Amélie Piton

Professor, University Hospital Strasbourg

Led an international study that described the AGO1-related syndrome (Schalk et al. 2021)

Partners

EURORDIS

We are a member of EURORDIS, the European alliance of ~1000 rare disease patient groups

ProRaris

We are a member of ProRaris, the Swiss alliance of rare disease patient groups

ERN Ithaca

We are a part of the European Patient Advocacy Group (ePAG) of the European Reference Network Ithaca for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders

Beacon

A UK charity that brings rare disease groups together. We are part of the 21/22 mentoring cohort. www.rarebeacon.org

Transnational Giving Europe

An initiative for tax-effective cross-border donations in Europe

Rare Village Foundation

Our fiscal sponsor in the US