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To mark rare disease day we asked our researchers to tell us more about the rare conditions that they study, and why their research is important.

Carl Morrow, Blackford lab (Department of Oncology)

“Bloom syndrome is a rare genetic condition characterised by a variety of symptoms, including growth retardation, a compromised immune system, hypersensitivity to ultraviolet light and a predisposition to cancer. Patients with Bloom syndrome have mutations in BLM, a DNA helicase. DNA helicases are able to unwind DNA, which is essential to make it accessible so it can be replicated, recombined and repaired. These are all normal processes in a cell, but which are not performed successfully if BLM does not function properly. However, we still don’t know exactly how BLM works and how it is regulated during the DNA repair process and throughout the cell cycle. In the Blackford lab we are addressing this question by characterising how the BLM protein is modified and what other proteins it interacts with. We hope that understanding how BLM misfunctions in patients can help us better understand the causes of cancer in general, and help us design new and improved treatments.”




Julia Truch, Gibbons and Higgs labs (Radcliffe Department of Medicine)

"Alpha-thalassaemia mental retardation X-linked, or ATR-X syndrome, is a rare genetic disorder characterised by intellectual disabilities, facial dymorphism and genital abnormalities. Patients also suffer from a blood disorder called alpha-thalassaemia where affected red blood cells are not able to function properly.

We know that ATR-X syndrome is caused by mutations in the ATRX gene, located on the X chromosome (as indicated in its name “X-linked”). As a consequence, the cells of patients with ATR-X syndrome are not able to produce a fully functional ATRX protein. In our lab, we are trying to understand what the normal functions of the ATRX protein are, and how they are affected in the disease context. We hope that our work will help us understand the disease better and support patients and their families. In addition, we believe that our research may also have a wider impact, since the ATRX protein is also impaired in about 10% of cancer."




Stephen Twigg, Wilkie lab (Radcliffe Department of Medicine)

“About 350 children are born with craniosynostosis in the UK every year. In children with this condition, bones at the top of the skull fuse together too early, giving the head an abnormal shape and potentially restricting room for the brain to grow. This can result in long-term problems and currently surgery is the only available treatment. In our lab we are trying to identify the genetic causes of craniosynostosis. We do this by sequencing the DNA of affected children and their families and then looking for the mistakes that may have caused the condition. This allows us to provide the families with valuable information that may end a long diagnostic odyssey, as well as giving a clearer picture of their child’s future. In addition, this information gives us a better understanding of how the skull forms which may help in the development of better treatments.”



Pedro Rodriguez Cruz, Beeson lab (Nuffield Department of Clinical Neurosciences)

“Congenital Myasthenic Syndromes are a group of rare genetic disorders characterised by impaired neuromuscular transmission, where the communication between nerve cells and muscles is impaired. Patients with these conditions suffer from muscle weakness that can affect any muscle of the body, including those used for breathing or swallowing. Our research aims to identify the genetic defects and underlying molecular mechanisms causing this disease, using a variety of models. Our findings are translated into real impact for patients via the Oxford Congenital Myasthenia Service, a national referral centre for children and adults in whom this disorder is suspected. A better understanding of the disease mechanisms is crucial to help us deliver the most appropriate pharmacological treatment for patients, which is often life-transforming.”




Caroline Scott and Christian Babbs, Buckle lab (Radcliffe Department of Medicine)

"CDA type I is a rare type of anaemia that causes a lack of red blood cells, which are vital for transporting oxygen around the body. The symptoms of CDA-I are variable but can be very severe and include failure to thrive or life long dependency on blood transfusions. In milder cases there may be fatigue, low energy, shortness of breath, dizziness and insomnia, unfortunately we still don't understand why this happens.

We take blood from CDA patients and extract stem cells, which can then be made to produce red blood cells in the lab. We can study these in detail to unravel what goes wrong in patients with anaemia. If we can understand the process by which red blood cells form normally and in disease, we can develop new treatments and improve the outlook for patients."