by admin | 7th September 2022
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 admin | 7th September 2022
Project Description: Research has shown that women experience more symptoms of depression and are more likely to be diagnosed with depression than men. These differences in prevalence only become evident after the onset of puberty. This raises the possibility that...
by admin | 7th September 2022
Respiratory failure is the leading cause of morbidity and mortality following spinal cord injury (Fig 1). There currently exists no clinical treatment for this and respiratory muscle function is not typically monitored following spinal cord injury. We hypothesise that...
by admin | 7th September 2022
Human induced pluripotent stem cells (hiPSCs) derived from patients with neurological disease are an invaluable source to study the development of central nervous system disorders such as epilepsy. In a novel approach, we will investigate if hiPSCs from epilepsy...
by admin | 7th September 2022
Recent epidemiological studies established an association between transient maternal hypothyroidism in early pregnancy and autism spectrum disorder (ASD). We have developed a robust mouse model of ASD where offspring born from a mother with induced transient...
by admin | 7th September 2022
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 admin | 7th September 2022
Clinical prediction modelling is the backbone of precision medicine. However, a recent meta-analysis revealed that most prediction models are not validated in new, real-life settings (external validation) and consequently not considered for implementation in clinical...
by admin | 7th September 2022
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 admin | 7th September 2022
Up to 40% of autistic individuals have epilepsy. The combination of autism and epilepsy significantly impacts upon quality of life as well as physical and mental health. The majority of studies to date have been retrospective investigations after a diagnosis of autism...
by admin | 7th September 2022
In the UK, and globally, fatal drug overdoses are at an all-time high1,2. Opioid overdose is now the leading cause of death for people under the age of 50 in the US2. An effective antidote to opioid, Naloxone, exists but many people are alone when they overdose3,4 and...
by admin | 7th September 2022
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 admin | 7th September 2022
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...
