Haddy Fye’s research

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Dr Haddy Fye knew she wanted to be a scientist studying human health from her days at school. As soon as she finished her A’ Levels she did a summer internship at the MRC Unit in The Gambia.

“Following my internship I was inspired to study Biomedical Sciences at university for my BSc,” says Haddy.

After completing her BSc, Haddy took up roles within several clinical trial organisations in the UK working on novel treatments for a range of cancers. Whilst pursuing this line of work, she was accepted for a MRC-funded PhD studentship at the University of Oxford working on chronic liver diseases and cancer.

Haddy’s PhD project focussed on analysing samples from patients diagnosed with a spectrum of liver diseases, using a very sensitive technique called ‘Liquid Chromatography coupled Mass Spectrometry (LC-MS)’. Many of the samples were collected from people with liver disease in Western Africa, via the Gambia Liver Cancer Study.

“This work culminated in the achievement of a DPhil from the University of Oxford, after which I moved back to the MRC Unit in The Gambia to join a follow up project building on the findings of the Gambia Liver Cancer Study.” Haddy says. “We wanted to develop our knowledge of LC-MS analysis into a non-invasive test that could be used to diagnose and monitor people with liver cancer.”

“I worked on this for a couple of years,” says Haddy.

But what excited me was the potential for the technology I was using to be applied to other disease contexts; – those less well studied than liver cancer and of great relevance to the African context.

One research area that Haddy always felt was neglected was sickle cell disease and other red blood cell disorders caused by genetic faults in a molecule called ‘haemoglobin’. This spectrum of conditions affects around 5% of the world’s population, and sickle cell disease is the most common inherited disorder amongst people from Africa. It causes a wide range of health problems and deaths.

“Sickle cell disease has not been prioritised, yet it disproportionately affects Africans,” Haddy says.

Haddy wanted to find out if the techniques she had mastered from her PhD could be applied to sickle cell disease; a concept she developed into a research proposal that was subsequently funded as an AREF Research Development Fellowship.

“After winning the AREF Fellowship I was able to return to the University of Oxford and work with Professor Benedikt Kessler and his group, accessing the sophisticated equipment and concentration of expertise there to develop my idea,” says Haddy.

Sickle cell disease can be extremely serious, with children, adolescents and pregnant women particularly vulnerable to losing their lives to the disease. In Africa, it’s estimated that around about 50%–80% of the 400,000 babies born every year with sickle cell disease die before reaching 5 years old.

For those who survive childhood, overall life expectancy is starkly reduced. Sufferers are plagued by common health problems including episodes of severe pain (a ‘sickle cell crisis’), susceptibility to infections, anaemia, fatigue, and shortness of breath.

“There are also other major quality of life issues,” Haddy says.

A significant number of children with sickle cell disease have silent mini-strokes caused by clumps of red blood cells blocking blood vessels in the brain. This leads to physical and learning disabilities, stigmatisation, and, in the most severe cases, a loss of the ability to live independently and work during adulthood. We don’t fully know the extent of this problem, because it’s not been researched and recorded.

Despite the terrible impact caused by the condition, there’s no routine screening programme for newborns across Africa. This is compounded by poor access to diagnostic tests and effective treatments – problems that need addressing, according to Haddy.

“I am investigating whether analysing samples of red blood cells from sickle cell patients using the techniques I apply – LC-MS – can highlight new avenues for treatment and improve our overall understanding of the biology of the disease.

“The severity of how sickle cell disease affects different individuals is known to vary considerably; even identical twins can have varying clinical outcomes and manifestations. We don’t fully understand the reasons for these variations, or how best to address them.”

Then there is the matter of diagnosing cases of the disease. The tests used at the moment in Africa are cumbersome, not always precise and offered by very few laboratories at the population level.

“There is a need for institutions in Africa to catch up with their Western counterparts, where LC-MS and other advanced laboratory techniques are now routinely used to screen newborns for a spectrum of red blood cell genetic disorders. In the UK, all newborns are given a sickle test five days after birth. It is my hope that the work I am currently engaged in will eventually translate to the establishment of a reference diagnostic laboratory serving much of West Africa,” Haddy says.

Because of poor access to diagnostic testing, many people don’t know if they – or their children – have sickle cell disease, or are silently carrying the faulty gene that causes it. One of the key ways to lower the burden of under-5 mortality for red blood cell disorders is through infant screening and early diagnosis.

“Evidence has suggested that sickle cell disease can be managed better if it’s discovered early on – patients can be monitored more closely, prioritised for vaccinations, and treated with folates amongst other measures.

“Knowledge also empowers people to make informed decisions when marrying and having children – if two carriers decide to have a baby together, there is a high chance the children will have sickle cell disease,” says Haddy.

Haddy hopes that in the future the techniques she is working on can be rolled out across the whole of Africa as a screening programme to identify babies with sickle cell disease. “Only then will we realise the true prevalence and impact it has, and be able to manage it better.”

“I couldn’t have made the progress I have without the opportunity to be placed within highly specialised laboratories at the University of Oxford granting me full access to a broad spectrum of technologies and experienced scientists during my AREF Fellowship – both have been instrumental.”

Winning the AREF Research Development Fellowship has given me a great opportunity to develop my independent research ideas.