Join us for a fully funded 3 year Cilia_AI PhD: Molecular profiling of altered cell states in renal ciliopathies (Closing date: 15/03/2025)

Join us for this exciting project that is part of Cilia-AI (European Training Programme for Deconvolution of Multi-scale Cilia Function in Health and Disease by Integrating Machine Learning-AI Approaches: https://www.cilia-ai.eu), a Marie Sklodowska-Curie Doctoral Network (2025-2028), offering a cohort of 14 PhD positions. The objective of Cilia-AI is to train the next generation of interdisciplinary biomedical researchers and entrepreneurs using an array of machine learning approaches to aid in closing the knowledge gaps in ciliary function at molecular, cellular, and organ development level.

We are looking for driven, curious and enthusiastic candidates who hold (or be about to obtain) a UK or international 1st class or 2.1 degree or a Masters in any relevant discipline in biological or biomedical sciences + interest in rare genetic disease, genomics, cell biology or imaging. Looking to start a PhD in the fall of 2025 in lovely Edinburgh with us… read more…

Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders

Read our latest pre-print on how we identify common molecular and cellular defects in several IRD models, each carrying mutations in genes involved in different cell pathways. Our work indicates that common pathways could be targetable to halt photoreceptor degeneration in IRDs in a gene agnostic fashion….

Read More

Pleasantine Mill is to co-lead the newly announced £9.4M LifeArc Centre for Rare Respiratory Diseases →

LifeArc launches £40M research centres that will unlock new tests, treatments and cures for people living with rare diseases, including rare respiratory diseasese like primary ciliary dyskinesia, with the announcement of a LifeArc Centre for Rare Respiratory Diseases led by Edinburgh, Dundee, UCL, Southampton, Cambridge and Nottingham.

Read More

Latest paper alert- The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes

Limited epidemiology suggests broad genotype-phenotype relationships for several common PCD genes. For yet undetermined reasons, severe disease is associated with variants in some genes (e.g., CCDC39, CCDC40) and mild disease in others (e.g., DNAH9, RSPH1) . However, little is known about clinical features of patients with different variants in the same PCD gene. We use engineered mouse mutants and patients with variants in HEATR2/DNAAF5 to explore allele dosage effects for PCD genes for the first time. Read more….

Read More