WHO:	Ted Dryja , Harvard University
TOPIC:	Hereditary human photoreceptor diseases: Numerous phenotypes and genetic causes
ABSTRACT:	Inherited diseases of the photoreceptor cells of the retina, such as retinitis pigmentosa, cone dystrophy, congenital retinal blindness, and stationary night blindness, are clinically and genetically heterogeneous. Most of these diseases are monogenic and have classical inheritance patterns, such as autosomal dominant, autosomal recessive, X-linked, or mitochondrial (maternally inherited), while others have more complex inheritance patterns or are multifactorial. In the last 14 years, about 80 identified genes have been reported; 39% of these genes are specifically expressed by the retina and the remainder are expressed by the retina as well as by many other tissues. The encoded proteins participate in many biochemical pathways, such as phototransduction, RNA transcription, RNA splicing, and the production or maintenance of cytoskeletal structures. There are over 45 additional genes that remain unidentified, most of which have been assigned to chromosomal regions through linkage studies. The frequency of recessive retinitis pigmentosa and the large number of responsible genes indicates that the aggregate carrier frequency may be over 10%. The identification of two genes that cause a novel photoreceptor phenotype, bradyopsia, illustrates my laboratory's approach to the identification of retinal disease genes.
WHEN:	3/8/2004 12:00:00 PM
WHERE:	Meliora 269

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