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Psychiatric genetics: recent advances and clinical implications

Published online by Cambridge University Press:  11 October 2011

Alejandro Corsico  and
Peter McGuffin
Alejandro Corsico*
Affiliation:
Social Genetic and Developmental Psychiatry (SGDP) Research Centre, Institute of Psychiatry, London, UK
Peter McGuffin
Affiliation:
Social Genetic and Developmental Psychiatry (SGDP) Research Centre, Institute of Psychiatry, London, UK
*
Indirizzo per la corrispondenza: Dr. A. Corsico, SGDP Research Centre, Institute of Psychiatry, De Crespigny Park, Denmark Hill, London SE5 8AF (UK). Fax: +44-020-7848-0866 E-mail: [email protected][email protected]
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Summary

Objective – To present an overview on current progress and future directions in psychiatric genetics. Methods — The review of studies that have demonstrated a genetic contribution to a wide range of psychopathology using family, twin, adoption studies and exploration of the methods and limitations of molecular genetic studies. Results – Single gene disorders has been the area that is most straightforward with striking advances in disorders such as Huntington Disease and early onset familial Alzheimer disease. Complex phenotypes such as schizophrenia and affective disorder have presented greater difficulties but late onset Alzheimer disease and dyslexia are examples where replicated molecular genetic findings suggest that gene identification is feasible even for multifactorial disorders. Conclusion – The combination of increasingly complete information on the genome together with accessibility to this on the internet provide the essential tools for the search for susceptibility genes. Another essential requirement in trying to identify genes of small effect is well characterized large scale collections of cases and this demands the interaction of epidemiological and clinical researchers. Advances in genomics will also allow tailoring of Pharmaceuticals pointing at treatment response and side effects. Hopefully all this perspectives together, will improve our understanding of the neurobiological pathogenesis of diseases such as Schizophrenia, Depression and Bipolar disorder ‘legitimizing’ them in the public view.

Riassunto

Scopo – Presentare una rassegna sui progressi attuali e sulle prospettive future della psichiatria genetica. Metodi – Revisione degli studi che hanno dimostrato una influenza genetica su un'ampia gamma di disturbi psicopatologici, utilizzando ricerche sulle famiglie, sui gemelli e sulle adozioni, ed approfondimento dei metodi e dei limiti degli studi di genetica molecolare. Risultati – I disturbi relativi ad un singolo gene hanno costituito il settore più semplice per ottenere significativi progressi nelle conoscenze su disturbi quali la malattia di Huntington e la malattia familiare di Alzheimer in fase iniziale. Fenotipi complessi, quali la schizofrenia e il disturbo affettivo, hanno invece presentato maggiori difficolta, ma la malattia di Alzheimer e la dislessia sono esempi nei quali scoperte replicate di genetica molecolare suggeriscono ora che l'identificazione genetica e realizzabile anche per disturbi multifattoriali. Conclusioni – La combinazione della disponibilita di un maggior numero di informazioni sui genoma, insieme all'accessibilita ad esse attraverso Internet, fornisce gli strumenti essenziali per le ricerche sulla predisposizione genetica. Un altro requisito fondamentale per tentare di identificare i geni che provocano piccoli effetti e una ben caratterizzata raccolta, su larga scala, di casi. Cid richiede l'interazione tra epidemiologi e clinici. I progressi negli studi di genetica consentiranno anche di individualizzare la terapia farmacologica, tenendo conto della risposta terapeutica e degli effetti collaterali. Si spera che l'insieme di queste prospettive migliorera le nostre conoscenze sulla patogenesi neurobiologica di malattie come la schizofrenia, la depressione ed il disturbo bipolare, ‘legittimando’ queste malattie agli occhi del grande pubblico.

Keywords

genetica molecolaremalattie mentalimetodologia di ricercaPsychiatric geneticsmental diseasesmethodology of research
Type
Invited Papers
Information
Epidemiology and Psychiatric Sciences , Volume 10 , Issue 4 , December 2001 , pp. 253 - 259
Copyright
Copyright © Cambridge University Press 2001

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