Our clinical service covers the North West of England and we run a national centre (Northern Congenital Hyperinsulinism service, NORCHI) for the rare disorder of congenital hyperinsulinism.
Our endocrine (hormone-related) research, conducted in collaboration with our main research partner The University of Manchester, focuses on growth and metabolism, bone disorders, obesity and diabetes and CHI.
Our research interests are:
Growth and metabolism
- 3M syndrome and related conditions
- Pharmacogenomics of growth hormones
- Relationship between pregnancy, fetal growth and longer term growth outcomes
We identified the genetic causes of 3-M syndrome, a condition of short stature. We are hoping to know more about genetic causes of 3-M syndrome and other short stature conditions, which could lead to better treatment in the future. Our research in this area is recognised through the hospital’s involvement in the 100,000 Genomes Project, where one of our consultants is leading the growth subdomain of the Paediatric Genome Clinical Interpretation Partnership.
Bone and vitamin D disorders
- Hypophosphatasia (HPP)
- Bone architecture and muscle-bone infrastructure
- X-linked hypophosphatemic rickets
- Glucocorticoid induced osteoporosis
We have a large cohort of patients with metabolic bone disease and operate one of the largest metabolic bone diseases service in UK. We have an established national and international research profile, which includes a collaboration with a teaching hospital in Pune, India.
Our research is supported by state-of-the-art bone density scanning equipment (DXA, QCT, pQCT, jumping mechanography and HrPQCT), physiotherapy and occupational therapy specialists, and a dedicated children’s clinical research facility.
Our research interests finding better methods to investigate and treat obesity in children, as part of a tertiary obesity service
- Type 1 and type 2 diabetes
We have a leading tertiary diabetes centre in the region with around 300 children in our diabetes service. We recruit to national studies in children with both type 1 and type 2 diabetes
Congenital Hyperinsulism (CHI)
- Understanding the phenotype (disease pattern) of CHI
- Improving existing medical therapies for CHI
- Understanding the pathobiology (molecular mechanism of disease) of CHI
- Identifying new targets for CHI therapy
We are one of two highly specialised centres for CHI nationally. We are keen to better understand the rare condition of hypoglycaemia (low sugars). We are also aiming to improve treatment choices that will prevent irreversible brain damage from very low sugars in babies with CHI.