Service Description: | 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. 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. |