Nature Genetics in 1993

Familial startle disease is among the oddest of disorders. The demonstration of a mutation in the inhibitory glycine receptor points towards a cause of this and similar perturbations.

In situ expression studies show that the selective pathology of Huntington's disease is not explained by a simple pattern of gene expression in the brain.

Characterization of genetic defects involving myelin continues with the identification of the gene for Canavan's disease, a condition that results in the destruction of the brain's white matter.

The genetics of inherited migraines is proving more tractable than might have been expected given the clinical heterogeneity of the malady.

Thousands of human genes are being characterized by analysing complementary DNA sequences. But the job of making full use of this wealth of information is just beginning.

A direct search for expanding trinucleotide repeat sequences has paid off with the identification of the latest disorder caused by this mechanism — spinocerebellar ataxia type 1.

Genetic analysis of domestic animals demonstrates the feasibility of marker-assisted selection of economically important traits and may foreshadow good things to come (other than better bacon) for human geneticists.

Work published over the past month provides insight into the mechanism of genomic imprinting in mice and the possible phenotypic consequences of imprinting in humans.

The association between insulin-dependent diabetes mellitus and HLA is fearsomely complicated. But powerful techniques are being brought to bear on the problem.

A compendium of the chromosomal locations of more than 300 human genes and their homologues in three mammalian species will be a boon In comparative mapping studies.

Three groups have successfully isolated the gene responsible for the X-linked Menkes disease, heralding great promise for our understanding of copper metabolism and for diagnosis of the disorder.