Blood, Bones and Bioinformatics

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Jun 09, 2015
from 05:30 PM to 06:30 PM

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0116 252 2320

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Professor Raymond Dalgleish

Departments of Genetics

Lecture Summary

Understanding how gene variants (mutations) cause common and rare single-gene inherited disorders is fundamental to developing viable therapies. There is much to be learned about how particular genes are expressed from the various defects in those genes that arise through the process of mutation. Insights into the expression processes is essential to understanding why a particular disorder, such as brittle bone disease, might exhibit one pattern of inheritance in one family and a different pattern in another. Why also are symptoms more severe in some individuals than in others?

Collagen Triple HelixThe globin genes were one of the first well-studied gene systems in humans. Many key aspects of the biology of haemoglobin (the protein that carries oxygen in red blood cells) were elucidated prior to the determination of the genetic code and well before the advent of gene cloning and DNA sequencing. Although disease-causing genes can be identified nowadays with little or no understanding of the biological processes for which they code, the initial development of human molecular genetics was based prior understanding of the underlying processes.

This is exemplified by the collagen protein family (28 different types in humans) and the myriad other proteins with which the collagens interact. Collagens provide both strength and some of the elastic properties of connective tissues such as bone, skin and tendons. The rare connective tissue disorders osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are the result of defects in collagen types I, III and V and place enormous burdens on affected individuals and families. Analysis of collagen proteins more than 30 years ago established that defects in two genes (COL1A1 and COL1A2) were responsible for OI. Nowadays, the repertoire of OI genes stands at 18, testifying to the complexity of coordinating correct spatial and temporal expression of connective tissues in development. The picture is equally complex for EDS.

Making sense of the gene variants that cause OI required the establishment of a database and work was begun on this in the 1990s. The database which is hosted in Leicester holds information about more than 1600 unique sequence variants known to cause OI and information for more than 2800 individual patients. There are almost 8000 visits each year to the database which has become a key tool supporting diagnostic decision making.

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