Meet Dr Fuller
“For some families, the research may directly support them, and for others, it will bring hope and positivity to face each new day.”
Dr Heidi Fuller is leading Sparks-funded research into spinal muscular atrophy (SMA), a genetic condition that makes the muscles weaker and causes a problem with movement.
The most severe form of SMA is the most common genetic cause of deaths in infants in the UK, thought to affect one in every 6,000 children born. There is no cure, and the current treatments available do not work well for everyone. The condition can have a huge impact on a child’s quality of life, leaving those most severely affected entirely dependent on others and facing a limited life expectancy.
SMA: THE FOUR TYPES
The condition is complex: it worsens over time and is classified into four clinical types (three types for children and one for adults).
Type 1: Babies with type 1 have a lot of physical challenges, including muscle weakness, trouble breathing and swallowing, and they will often need a feeding tube.
Type 2: Young children with type 2 SMA usually begin to experience symptoms around six months of age. As they grow older, they typically cannot walk and require a wheelchair.
Type 3: Type 3 patients can be diagnosed anytime between 18 months and teenage years and they experience increasingly limited mobility.
Type 4: Type 4 SMA usually begins in early adulthood and is called adult-onset SMA.
It is estimated that there are currently around 200–2,500 children and adults living in the UK with different types of SMA.
In November 2018, Dr Fuller’s research – to try and understand more about the different types of SMA – was funded as part of the as part of the joint Sparks and GOSH Charity National Call, where the charities invite child health researchers across the country to apply for funding. ‘The applications are reviewed by an expert panel and top researchers from around the globe, ensuring we only fund the highest-quality research most likely to have life-changing benefits for children. Dr Fuller’s research was one of 12 projects chosen.
Dr Fuller’s research
SMA is caused by a mistake in a child’s DNA – the vital instructions that control every process in our bodies. The genetic mistake is in a region of DNA that usually produces a molecule vital for healthy communication between the brain and muscles. SMA patients do not make enough of this molecule, so research has primarily focused on how it can be increased. However, none of the strategies that have been developed so far are completely effective, so new therapies are urgently needed.
Dr Fuller and her team look at what happens inside of the cell at the molecular level. “I like to think of it as a complicated version of the London Tube network,” she explains. “Think of a molecule as a Tube station: if one molecule is defective, it can break pathways in the cell and cause them to operate ineffectively.” Dr Fuller’s research aims to identify and target the defective molecules and design new therapies to correct the faults and alleviate symptoms.
Dr Fuller’s team use a range of techniques to carry out their work, including growing patient cells in the lab, studying molecules inside the cells, and then adding a drug to the cells to see the effects. Dr Fuller explains: “We’re aiming to gain insights into the way SMA affects cells. Then we can identify therapies that we can begin to test in the lab to see whether they can help.”
The importance of funding
“For patients currently living with SMA there’s no time to waste at all,” says Dr Fuller.
Dr Fuller and her team need to continue the search for treatments that can either help to stop disease progression or to alleviate symptoms in the patients who already have symptoms.
“It is still early days, but we’ve already got some interesting preliminary data,” says Dr Fuller, “and we’re very much looking forward to developing our relationship with Sparks over the next three years.
“Funding is immensely important,” says Dr Fuller. “For some families, the research we do may directly support them – it may allow them opportunities to be involved in new trials for emerging therapies. For others, it will bring hope and positivity to face each new day. We can’t do any of that without funding.”
Child health research is severely underfunded. Only five per cent of public and charitable research funding goes towards all paediatric research in the UK each year.
For critically ill children, there’s no time to lose.
With your help, we can fund research into life-changing treatments that will help children in the UK who have rare and complex conditions like SMA. Donate now.