Unique

We aim to act as an international group, supporting, informing and networking with anyone affected by a rare chromosome disorder or an autosomal dominant single gene disorder and with any interested professionals.

Inform
We aim to provide specialist information relating to many hundreds of different rare chromosome disorders and autosomal single gene disorders, to inform parents, carers and the professionals working with them.

Network
We aim to facilitate a network of families across the world living with rare chromosome disorders or autosomal dominant single gene disorders, bringing them together both in person and virtually for invaluable mutual support. By networking with professionals and the wider public we also aim to increase awareness and understanding of what it’s like to live with these disorders.

Support
We aim to be there for families and individuals, offering a listening ear, an understanding, sympathetic presence to support them when they need us most, often at or just after receiving a diagnosis of a rare chromosome disorder or an autosomal dominant single gene disorder.