Updated on
What did the project achieve?
Congenital dyserythropoietic anaemia type 1 (CDA-1) is a rare, inherited disorder that affects red blood cell production and is usually diagnosed in childhood. A child with CDA-1 will usually have moderate to severe anaemia – with symptoms including tiredness, weakness, pale skin, shortness of breath and headaches. Over time, it can also lead to serious complications such as heart failure, diabetes and liver disease.
Current treatments for CDA-1, such as regular blood transfusions and injections of a medicine called interferon, can help manage symptoms, but often cause side effects that impact quality of life.
“Our laboratory research has uncovered important new insights into the biological mechanisms of CDA-1 – moving us a step closer to better treatments with fewer side effects,” says Dr Chris Babbs of the University of Oxford. “We’ve also developed new tools that will enable faster, less painful diagnosis for children with this debilitating condition.”
Dr Babbs and his team investigated the biological function of two genes – CDAN1 and CDIN1 – known to cause CDA-1. They found that the proteins produced by these genes work together and are involved in essential processes in healthy red blood cell development. Their results suggest that impaired activity of the CDIN1 protein is ultimately the root cause of the disease.
In parallel, the researchers studied how interferon treatment affects red blood cells collected from patients and grown in the laboratory – identifying several genes that are switched on following treatment.
“Interestingly, we found that the positive effects of interferon treatment are long-lived and persist for several weeks after treatment has stopped,” says Dr Babbs. “This suggests that giving lower doses may provide similar benefits, with fewer side effects for children – addressing a major concern for families.”
The team has also made advances in diagnostic testing for children with CDA-1 – and identified potential biomarkers, paving the way for the discovery of new therapies for children with this rare condition in the future.
“Our cell system removes the need to collect a bone marrow sample to confirm a diagnosis, which is a painful and invasive procedure,” explains Dr Babbs. “And thanks to the use of a genetic screening panel, we are now diagnosing CDA-1 patients earlier – providing answers for families and enabling treatment to start sooner.”
“This work represents important progress, but fully unpicking the molecular cause of this disease will require a model system in which the proteins responsible for CDA-1 can be switched on and off at the key stages of red blood cell development, which we hope to develop in the near future,” he adds.
This research was completed on
How are children’s lives affected now?
Children born with congenital dyserythropoietic anaemia type 1 (CDA-1) have problems with the development of red blood cells. A shortage of these important cells prevents their blood from transporting enough oxygen around their body.
“A child with CDA-1 will usually have moderate to severe anaemia – with symptoms including tiredness, weakness, pale skin, shortness of breath and persistent headaches,” says Dr Babbs.
CDA-1 also causes the child’s body to absorb too much iron, which builds up and can damage tissues and organs – leading to other complications including heart failure, diabetes and liver disease.
Current treatments include regular blood transfusions and injections of a medicine called interferon-alpha – however, both can cause side effects. “Blood transfusions are time-consuming and carry a risk of infection, and interferon-alpha doesn’t always work and can often cause unwanted short- or long-term effects that can reduce the child’s quality of life.”
How could this research help?
“We aim to gain a better understanding of the biological causes of CDA-1 – and identify key processes involved in red blood cell production,” says Dr Babbs.
Scientists have so far identified faults in two genes – CDAN1 and CDIN1 – that can cause CDA-1.
“We will carry out laboratory experiments on blood cells to explore how the protein molecules produced from these genes work – and how gene faults found in children with CDA-1 can change their behaviour,” says Dr Babbs.
The team will also investigate which biological processes are switched on by interferon-alpha and how this leads to improved red blood cell production. This could help them identify medicines that work similarly, but are more effective at treating CDA-1 with fewer side effects.
Our studies will also lead to improved diagnosis – and provide an important step towards better treatments for children with CDA-1. In the longer term, it could also lead to the development of new drugs for more common types of anaemia.
Research table
Project details
| Project Leader | Dr Chris Babbs, BSc(Hons) DPhil |
| Location | MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, John Radcliffe Hospital, University of Oxford |
| Project Team |
Professor Peter J McHugh, BSc DPhil
Dr Noemi B Roy, DPhil MBChB BSc FRCpath MRCP |
| Other Locations | Department of Oncology, and BRC/NHS Translational Molecular Diagnostics Centre, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford |
| Grant Awarded | |
| Grant Amount | £184,829 |
| Start Date | |
| End Date | |
| Duration | Three years |
| Grant Code (GN number) | GN2855 |
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