Help us create gene therapy for children with Smith-Lemli-Opitz-Syndrome

Gene therapy for children with Smith-Lemli-Opitz syndrome (SLOS)

Together we can find a cure!.

Smith-Lemli-Opitz syndrome (SLOS) is a rare, severe genetic disorder caused by a mutation in the DHCR7 gene, which is responsible for the production of cholesterol – essential for the normal development of a child’s brain and body. Children with SLOS are born with a number of serious symptoms including: heart defects, genitourinary defects, limb defects, feeding disorders, intellectual disability, autism, other developmental and metabolic defects. Currently, there is no effective treatment – only symptom relief.

But this may be about to change.

In 2025 Purestone Foundation partnered with Gene2Cure foundation and together we started a groundbreaking gene therapy project for children with SLOS, led by a world-class research team Prof. Leszek Lisowski from the Children’s Medical Research Institute (CMRI) in Sydney. Prof Lisowski’s team is developing a custom-designed gene therapy based on AAV vectors to complement the defective gene and improve normal body function. This is one of a series of projects by Prof. Lisowski’s team.

This is a viable, scientifically grounded hope for the successful treatment of children affected by SLOS.

What do we need?

While we have the expertise, experience and a dedicated medical team, we need financial support to see this project through to completion – from preclinical studies, through clinical production and to the first administration of the therapy to patients. Every donation brings us closer to this goal.

This project is a potential global breakthrough – not only for children with SLOS, but also as a model for the development of gene therapy for other rare genetic diseases. It is the first step towards a systemic treatment for conditions that until now have been incurable.

Join us – together we can do it

Download a description of gene therapy

Download a description of the research institute