The Brain Research UK Miriam Marks Research Fellowship scheme was established in 2020 in partnership with UCL Queen Square Institute of Neurology. The scheme is funded by the Miriam Marks Endowment Fund, which was established by the family of Mrs Miriam Marks in 1971 to support research into brain degeneration.
This award to Dr Afra Aabdien is one of two Fellowships awarded in 2026 and will support her research into Amyotrophic lateral sclerosis.
Afra is a postdoctoral research fellow dedicated to advancing understanding of the molecular and pathological mechanisms of Amyotrophic lateral sclerosis (ALS) and to facilitating clinical translation of this understanding.
Afra was awarded her PhD by King’s College London in 2023, after which she became the lead post-doctoral research associate for a gene therapy project focussed on Fused in Sarcoma (FUS) in ALS, and then the Principal Investigator on a Wellcome Trust Accelerator Award to investigate the molecular mechanisms of ARPP21 in ALS.
This Miriam Marks Fellowship will enable Afra to continue this line of research under the supervision of Professor Giampietro Schiavo, Research Division Lead at the UK Dementia Research Institute. It will also provide the ideal platform to enable Afra to develop a distinct research niche focused on uncovering novel disease mechanisms in neurodegeneration whilst at the same time linking fundamental neuroscience with patient benefit.
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). It is a fatal, rapidly-progressing disease that attacks motor neurons, the nerves in the spinal cord and brain that control muscle activity – including the muscles responsible for breathing, swallowing, speaking, walking and gripping. As these nerves are attacked, messages gradually stop reaching the muscles. This initially leads to weakening and wasting and then, eventually severe paralysis and breathing difficulties.
There is no cure for ALS. It is always fatal. There are some treatments available that can extend life expectancy and improve quality of life, but by the time the disease is typically diagnosed, it has already caused significant and irreversible damage. Understanding what causes nerve cells to become damaged is therefore essential for developing more effective therapies.
Genetic screens of ALS patients have identified rare variations in the ARPP21 gene, with further research providing evidence that several of these genetic changes may play a causative role in the disease. Dr Aabdien’s preliminary research suggests that, in ALS, the function of ARPP21 may be disrupted in several specific ways, thereby increasing neuronal vulnerability and promoting neurodegeneration.
In this Fellowship, Dr Aabdien will (1) characterise ARPP21 function in nerve cells, (2) determine how ARPP21 mutations cause nerve cell vulnerability and (3) uncover the underlying mechanisms that contribute to nerve cell dysfunction and degeneration
Amyotrophic lateral sclerosis (ALS) is a devasting neurodegenerative disease defined by progressive paralysis due to the degeneration of motor neurons in the brain and spinal cord. Most patients die within 3-5 year of symptom onset, mostly due to respiratory failure.
Although researchers have identified several genes linked to ALS, there is still much to learn about how these genetic changes cause nerve cells to become damaged and die. Dr Aabdien's research aims to bridge this gap by investigating how nerve cells coordinate their activity with the production of proteins needed to stay healthy, and what happens when these processes fail.
In particular, ARPP21 provides a unique opportunity to examine the intersection of these processes while also investigating the causes of ALS. A better understanding of the causes and processes of ALS will also give us greater insight into new ways to treat this devastating disease. Ultimately, these discoveries could provide new opportunities to develop treatments that protect nerve cells, preserve their function and slow disease progression.
Find out about our other research in this area:
