Genetic diseases

A transverse histological section of a dystrophic mouse muscle stained with Azan-mallory. Muscle fibres appear red, dense connective tissue blue and adipose tissue white.  Image courtesy of G. Cossu. PNAS; Sept. 11, 2001, vol. 98  no. 19, pp. 10733–10738.

Genetic diseases

Regenerative Medicine can potentially offer treatment for monogenic diseases through the use of cell and gene therapies. Within the University of Manchester we possess strengths in developing treatments, and bringing them to trial, for diseases such as Mucopolysaccharidosis (MPS) I.   Additionally, we collaborate with the Centre for Genomic Medicine at the Central Manchester Foundation Trust, which represents an integrated and multidisciplinary grouping of clinical and basic scientists. The centre’s overarching aim is to identify the genetic basis of both monogenic and complex disorders. This includes studying the normal role of the genes and subsequent proteins that have been identified, as well as understanding the functional consequences of pathogenic genetic variants.


None Currently


Professor Bill Newman

Professor of Transitional Genetic Medicine
Faculty of Biology, Medicine and Health
Central Manchester Foundation Trust
Professor Newman’s University profile

Genetic Basis of Human Disease:

Using technologies such as microarrays and next generation sequencing, Professor Newman has been working with clinical colleagues to define the genetic causes of a number of rare inherited conditions. With his colleagues, Dr’s Sid Banka and Simon Jones, they described a novel developmental disorder due to deficiency of an enzyme called dihydrofolate reductase (DHFR). They have an active research programme on a number of rare conditions including Perrault syndrome (deafness and ovarian failure), Leri’s pleonosteosis, familial basal cell carcinoma, Burn McKeown syndrome, Filippi syndrome and Heimler syndrome. Professor Newman is especially interested in expanding the use of this technology to patients where genetic testing has not been used, to aid accurate diagnosis and clinical management.


Mr Simon Jones

Consultant Willink Biochemical Genetics Unit
Central Manchester Foundation Trust
Mr Jones’s CMFT profile

Metabolic, Glycogen Storage and Lysosomal Storage Diseases

Mr Jones’s interests lie in general metabolic, glycogen storage and lysosomal storage diseases, such as mucopolysaccharidosis (MPS). He has been working at the Willink Biochemical Genetics Unit, now part of Genetic Medicine at St Mary’s Hospital, Manchester since September 2005.  He has been principal investigator for, or actively involved in, many phase I-IV international multi-centre trials of enzyme replacement therapy for lysosomal storage disorders, including a first-in-man trial of enzyme replacement therapy for Niemann-Pick Disease type B (NPD). Since 2008 he has been a Consultant in paediatric inherited metabolic diseases at the Willink Unit. He works closely with Dr Brain Bigger and Mr Robert Wynn.

Professor Robert Wynn

Consultant Paediatric Haematologist & Director of Paediatric Bone Marrow Transplant Programme
Central Manchester Foundation Trust
Professor Wynn’s CMFT Profile

Stem Cell Transplantation in Genetic Diseases

Prof Wynn was born in Sudan, but grew up in Liverpool. He trained in medicine in Cambridge and London and qualified in 1989. He undertook post graduate medicine training in Newcastle and Edinburgh, Haematology training in Cardiff and Manchester and Paediatric Transplant training in Toronto. He was appointed Consultant in Manchester in 1998 and has been Programme Director since 2004. He is a full time NHS Consultant.