by Samuel White | 11th September 2023
Background: Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease characterised by misregulation of the RNA binding protein TDP-43. A major challenge has been the lack of good TDP-43 disease models, thereby limiting ‘bench to bedside’ success. However,...
by Samuel White | 11th September 2023
Background Iron dyshomeostasis has been observed in Alzheimer’s Disease (AD) [1]. We have suggested that ferroptosis, a form of iron-enhanced programmed cell death, operates in AD [2], and arises from excess lethal lipids as detoxification mechanisms are overwhelmed...
by Samuel White | 11th September 2023
Malan syndrome is a rare genetic overgrowth disorder, which is clinically characterized by unusual facial features and macrocephaly associated with intellectual disability. Whilst Nfix transcription factor has been identified as a causal gene of the syndrome, the...
by Samuel White | 11th September 2023
Congenital heart disease (CHD) affects almost 1% of UK births, and is the most frequent congenital malformation. Improvements in antenatal diagnosis, cardiac surgery, and perioperative care mean that most infants born with CHD now survive. However, children and adults...
by Samuel White | 11th September 2023
Sexual minority people (e.g., lesbian, gay and bisexual) are at substantially higher risk of multiple health problems, including mental and physical health (Semelyen et al. BMC Psychitr 16, Article 67, 2016). However, the measurement of sexual minority status as...
by Samuel White | 11th September 2023
Children differ dramatically in how easily they learn skills such as reading and mathematics and in how well they use these skills to learn more generally. These skills are among the most heritable behavioural traits and the DNA revolution is making it possible to...
by Samuel White | 11th September 2023
The brain is made of billions of neurons which communicate with each other via synapses. Synapse formation (synaptogenesis), function, plasticity, and maintenance – processes crucial for normal brain development and function – are all controlled by cholesterol....
by Samuel White | 11th September 2023
Scientific basis: The neuronal processing that enables us to see and recognise complex visual images like text and faces starts in the retina itself. Diseases leading to photoreceptor death cause irreversible sight loss, and yet the rest of the inner retinal circuitry...
by Samuel White | 11th September 2023
In this project we will use a coherent in vitro, experimental, systematic approach, to mimic early-life stress (ELS)-relevant cortisol and inflammatory insults on cells from the human brain, heart, liver, pancreas and blood immune system, to identify mechanisms...
by Samuel White | 11th September 2023
Epilepsy is the most common and highest impact neurological disorder and there are no medical cures because the pathophysiological brain mechanisms are poorly understood. The condition arises from excitation-inhibition imbalance in neocortical networks, with...
by Samuel White | 11th September 2023
Neonatal hypoxic ischaemic encephalopathy (HIE) occurs in approx. 1.5 per 1000 live births at term and is associated with significant mortality and long-term morbidity, up to 50% of neonates having a severe outcome of death or disability. Outcomes can also include...
by Samuel White | 11th September 2023
Scientific Basis: The WHO considers autism as a priority due to its high-frequency, early onset, and life-long impact on quality of life. Discovering mechanisms that predict which autistic person develops mental health problems (prognostic biomarker), and which...
