Mapping the way forward

Article Abstract:

The genes involved in many genetic disorders have been identified using a technique known as chromosomal mapping. This technique uses chromosomal segments, known as markers, to isolate and identify the chromosomal regions between these markers. The genes involved in disorders such as Kallmann's syndrome, fragile X syndrome, colorectal cancer, early-onset familial Alzheimer's disease, and Marfan syndrome have all been identified. The latest discovery is that a defect in the gene for rhodopsin (a pigmented compound in the retina of the eye) occurs in one quarter of the cases of autosomal dominant retinitis pigmentosa, a disease which leads to blindness. Other genes involved in autosomal dominant retinitis pigmentosa have also been identified. The gene involved in choroideremia, a disease where the retina of the eye is degenerated, has been located. This gene is also thought to be involved in one form of Usher syndrome, where there is blindness and loss of hearing. Another gene involved in another type of deafness has also been identified. Research has also shown that different changes in a particular gene may cause a different disease. For example, individuals with certain mutations in the gene involved in cystic fibrosis do not develop the symptoms of cystic fibrosis but rather develop congenital absence of the vas deferens (the tube which carries sperm from the testis to the urethra). Certain genetic changes in the gene involved in Duchenne and Becker muscular dystrophies can affect the heart muscle instead of skeleton muscle and result in disorders of the heart instead of muscular dystrophy. It is predicted that with the techniques available and with new techniques that are being developed, over 100 genes that are involved in various genetic disorders will be identified in the near future. (Consumer Summary produced by Reliance Medical Information, Inc.)

Identification and classification, Genetic disorders, Chromosome abnormalities, Human chromosome abnormalities

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Fast forward for gene therapy

Article Abstract:

Gene therapy has focused in the past on ex vivo studies for rare diseases, but approval of three proposals for in vivo studies of cystic fibrosis by the Recombinant DNA Advisory Committee of the National Institutes of Health may change this. Gene therapy is having mixed results in at least 15 trials nationwide. European researchers may gain ground on American researchers in 1993. Dutch and Italian investigators are attempting to target stem cells to prolong treatment for genetic disease resulting in adenine deaminase deficiency.

Forecasts and trends, Gene therapy, Cystic fibrosis

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Peripherin and the vision thing

Article Abstract:

Research on the phenotype or genetic basis for retinal degeneration is the subject of three articles in the Mar 1993 issue of Nature Genetics. These phenotypes are linked to mutations that affect peripherin, a retinal protein, and with the loss of photoreceptors that characterizes retinitis pigmentosa (RP). B.E. Nichols and colleagues report a mutation associated with butterfly dystrophy. J. Wells and colleagues and K. Kajiwara and colleagues identify different phenotypes as causes of macular degeneration and RP.

Physiological aspects, Genetic aspects, Phenotype, Phenotypes, Retinal degeneration, Medical genetics, Retinitis pigmentosa

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