There are many different forms of immune deficiency and each requires dedicated research to aid early diagnosis and determine individual treatment to give each baby and child the best chance of survival. Over the past ten years, we have established a reputation as one of the top five research units in Europe and enjoyed the highest success rates in Europe for specific conditions.
We have an outstanding record of clinical achievement and an expanding programme with outreach clinics in Manchester, Edinburgh and Dublin. Over 1,400 immunodeficiency referrals are seen each year and the Unit performs 30 bone marrow transplants (BMT) annually for immunodeficiency. Indeed, we performed the first UK BMT for paediatric rheumatological conditions, as well as pioneering umbilical stem cell transplantation for immunodeficiency.
The growth in clinical activity has facilitated significant research activity, including substantial programmes investigating chronic mucocutaneous candidiasis and polysaccharide antibody deficiency following cardiac transplantation. Other studies have looked at markers for the early diagnosis of SCID, immunological defects in DiGeorge syndrome, gene mapping in osteopetrosis, and the elucidation of immunodeficiency due to DNA repair defects. The Unit has established the UK registry for chronic granulomatous disease and a European registry of BMD for CD 40 ligand deficiency. This last initiative highlights the Unit’s participation in collaborative European research, which has been funded by successive EU Biomed grants.
To date, we have:
- achieved world-breaking results using stem cells to treat patients
- pioneered use of umbilical cord blood to treat patients
- established a national database for patients with a rare immunodeficiency and pioneered bone marrow transplantation for this disorder
- investigated the development of the new immune system after transplantation
- been involved in diagnosing of novel immunodeficiency and identification of the genetic cause of a further immunodeficiency
- pioneered inhaled treatment to improve outcome of patients with lung inflammation post transplant and as a consequence most patients now survive
Importantly as a result of research to date, we have been able to pioneer treatment, which has saved the lives of babies and children.
The relocation of the University Department of Haematology laboratory has provided the opportunity to develop a world-class stem cell, marrow manipulation and gene therapy unit. To take the research forward, a senior academic member of staff is developing key projects, in collaboration with medical staff in genetics and haematology.
There are a number of projects which we are running and require further funding for or are planning to start in the near future
Understanding the genetic causes of SCID has helped us improve our understanding of how these diseases present and also improve our treatment. We are currently searching for a new gene that causes a rare form of SCID. We have found the region in the human genome where the defect is likely to be but further work is required to find the gene and understand its function.
- Investigating risk factors that lead to severe forms of SCID
We are investigating defects in the chemical messages that cells use to talk to each other which may be important in developing certain forms of SCID. Understanding differences in these chemical messages will help us improve our treatments for this particular form of SCID which currently has a very poor survivial rate.
- New vaccines to boost immunity
Following a successful transplant,some children still have minor problems fighting bacteria that hide themselves by covering themselves in sugar. We are investigating this defect in greater detail so that we can find better ways of protecting children from infection.
- Umbilical cord stem cell therapy
We have pioneered the highly successful use of umbilical cord stem cells to transplant young children with SCID. In order that many more children can benefit from this treatment,we need to be able to grow stem cells that are collected in the laboratory before transplanting them into older children and we are planning a project to investigate this.
We need £2.5million for this research
)
