BLOG: Highlighting UON team’s vital research on Rare Disease Day

Saturday 29 February is Rare Disease Day.

Here, our Bioscience team blogs about the research into rare diseases being carried out at the Centre for Physical Activity and Life Sciences at the University of Northampton…

The 29th of February is the rarest day of the year, occurring only once every four years. Since 2008, the last day of February has been recognised as Rare Disease Day. Although individually rare, as a group, one-in-20 people will live with a rare disease at some point in their life. The majority of rare diseases have no cure and many go undiagnosed.

Within the Centre for Physical Activity and Life Sciences at the University of Northampton, we have several ongoing research projects investigating the underlying disease mechanisms of a diverse group of rare diseases. These include Duchenne muscular dystrophy, brain tumours and genetic studies on rare morbidities in consanguineous, or ‘inbred’ families. Here we shine a light on some rare diseases and our work here at the University of Northampton.

Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a fatal childhood genetic disorder primarily affecting boys. Around 100 boys with DMD are born in the UK each year. There is no cure. It is caused by the body-wide absence of a muscle protein called dystrophin. Alongside muscle breakdown, the loss of dystrophin in the brain leads to intellectual disability and conditions like autism. Dr Karen Anthony’s research is focused on understanding how the disease affects the brain. This knowledge could lead to the development of a more holistic, whole body, approach to treat Duchenne.

Brain tumours

Work jointly led by Dr Lee Machado and Dr Karen Anthony has identified a potential new drug target in some rare cancer types, including gliomas and soft tissue sarcomas. Lee and Karen have identified a gene that correlates with survival outcomes across several cancer types. PhD researchers Leanne Jones and Michael Naidoo are currently investigating this new gene in tumour cells and tissue with a view to developing potential therapeutic strategies.

Consanguinity as a cause of rare neurological disease

In certain parts of the world, the incidence of ‘rare diseases’ is much higher than expected, due to high rates of consanguinity, or ‘inbred’ families. Unfortunately, this leads to a significant level of genetic disease and death. The work of Dr Jamal Nasir, senior lecturer in human genetics and genomics, has led to the identification of the genes responsible for rare, and newly described, conditions in consanguineous families. The conditions are characterised by learning disability and global developmental delay. Insights into their underlying disease-causing mechanisms, could have broader implications for more common, but related conditions, such as autism and depression. In particular, Jamal, has identified disease pathways which could provide potential targets for therapeutic intervention.

Our very own Dr Sindy Banga, Senior Lecturer in Health Psychology, gives a patient’s perspective on Rare Disease Day:

“I was diagnosed with pulmonary arterial hypertension (PAH), a type of pulmonary hypertension (PH).  It is a rare and progressive disease affecting 7,000 people in the UK, that is two-to-four people in every million in the UK every year. Characterised by high blood pressure, breathing is problematic and mobility is considerably reduced. It is often misdiagnosed as asthma, as mine was for two years. Even now many GPs have not heard of PH. PAH severely affects my quality of life but the irony is that when at rest, for example, sitting at work, people living with PH look absolutely well and no one would guess that we have this debilitating disease. After exhausting the available medication, I will be on oxygen and wheelchair bound, and the predicted outcome is premature death. The final solution for me is a heart and double lung transplant. However, the chance of finding a heart and two lungs that would be a match is very slight.  Overall I am a happy person and I try to make the most of each day because I know that my future is bleak.”

Visit the Rare Disease Day website to find out more and join in with the day’s activities.

Pictured from left are Michael Naidoo, Leanne Jones, Dr Lee Machado and Dr Karen Anthony.