Project Title: Cilia, Cell Polarity & Their Defects in Human Disease
Supervisor: Dr Jarema Malicki (BMS and CDBG)
Application deadline: Friday 14 December 2012.
Cilia and flagella are thin hair-like cell surface protrusions, about 200 nm in diameter, that perform diverse biological functions. Cilia defects are associated with a variety of human disorders:
- The loss of embryonic cilia disrupts asymmetric organ arrangement in the body (known medically as situs inversus), and leads to the formation of an abnormal number of digits (polydactyly).
- In sense organs, the eye or the nose for example, ciliary abnornomalities cause blindness (retinitis pigmentosa), and anosmia, respectively.
- Malfunction of epithelial cilia is associated with kidney disease (polycystic kidney disease, nephronophthisis), lung infections, female infertility, brain defects (hydrocephalus), and possibly mental retardation.
- Finally, abnormal sperm flagella are associated with male infertility.
We use a combination of approaches to study how cilia form, and how they function as detectors and transducers of signals in embryonic patterning, morphogenesis, mechanosensation, and vision. Although seemingly unrelated, all these processes rely on mechanisms common to cilia in different organs and tissues. Projects that take advantage of genetic, proteomic, and biochemical methods are available in the laboratory.
Contact details
Dr Jarema Malicki
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