Rare Disease Day

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Feature: Why rare diseases are key for scientific discovery

Rare diseases are varied and life-threatening, yet most still remain undiagnosed and have no effective treatments. Now, scientists at the UCL Neurogenetics Lab are focusing on these conditions, to find diagnoses and treatments that could be crucial for scientific discovery.

Scientists estimate there are more than 7,000 rare diseases in total – including Huntington’s disease, cystic fibrosis and muscular dystrophy. And they affect around 3.5 million people in the UK and 30 million across Europe.

Read the feature

Meet the expert: Dr Viorica Chelban

Dr Viorica Chelban specialises in translational work in neurodegeneration and rare diseases and is a clinical academic at the UCL Queen Square Institute of Neurology.

Meet the expert: Professor Henry Houlden

Professor Henry Houlden is the Clinical Lead for Neurogenetics at the National Hospital of Neurology and Neurosurgery and plays a key role on the Genomics England board for rare diseases.

Meet the expert: Dr Reza Maroofian

Dr Reza Maroofian is a geneticist at the UCL Queen Square Institute of Neurology who researches challenging paediatric neurological disorders.

Case studies

Alison's story

"Research into rare diseases is hugely important. Without research, myself and my daughter would not have a diagnosis now, as most of the testing was done under research purposes."

Christopher's story

"With many ultra-rare syndromes and conditions any research has to be pushed for by parent and patient groups."

Our collaborators: Dr Yalda Jamshidi

"By collaborating with the UCL Queen Square Institute of Neurology Neurogenetics Lab we have been able to pool resources and knowledge to enhance research and understanding."