Genetic Diseases, Inborn

Publication Title: 
Nature Reviews. Genetics

There has been mounting evidence of a causal role for telomere dysfunction in a number of degenerative disorders. Their manifestations encompass common disease states such as idiopathic pulmonary fibrosis and bone marrow failure. Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect. Here we review the manifestations and unique genetics of telomere syndromes. We also discuss their underlying molecular mechanisms and significance for understanding common age-related disease processes.

Author(s): 
Armanios, Mary
Blackburn, Elizabeth H.
Publication Title: 
Medical Hypotheses

European researchers have observed that schizophrenia is 3 times more frequent in immigrants than in native-born subjects. This increased risk is even higher in dark-skinned immigrants, and the second generation is more affected than the first one. Immigrant status is an important environmental risk factor not only for schizophrenia but also for other psychoses. The explanations proposed to date have been mainly related to epidemiological biases and psychological reasons, such as racism or social defeat, but no biological hypotheses have been tested so far.

Author(s): 
Dealberto, M. J.
Publication Title: 
Nature Reviews. Genetics

The classical twin study has been a powerful heuristic in biomedical, psychiatric and behavioural research for decades. Twin registries worldwide have collected biological material and longitudinal phenotypic data on tens of thousands of twins, providing a valuable resource for studying complex phenotypes and their underlying biology. In this Review, we consider the continuing value of twin studies in the current era of molecular genetic studies.

Author(s): 
van Dongen, Jenny
Slagboom, P. Eline
Draisma, Harmen H. M.
Martin, Nicholas G.
Boomsma, Dorret I.
Publication Title: 
Advanced Drug Delivery Reviews

Long non-coding RNAs (lncRNA), a class of non-coding RNA molecules recently identified largely due to the efforts of FANTOM, and later GENCODE and ENCODE consortia, have been a subject of intense investigation in the past decade. Extensive efforts to get deeper understanding of lncRNA biology have yielded evidence of their diverse structural and regulatory roles in protecting chromosome integrity, maintaining genomic architecture, X chromosome inactivation, imprinting, transcription, translation and epigenetic regulation.

Author(s): 
Khorkova, O.
Hsiao, J.
Wahlestedt, C.
Publication Title: 
Fetal Diagnosis and Therapy

This paper examines whether and to what extent parents are morally bound to seek reproductive genetic testing. It is concluded that, with rare exceptions, there is no requirement in parenting to seek or accept reproductive genetic testing if the only actions facilitated by such testing are abortion, selective conception or remaining childless. Commitments to other family members or to oneself can provide other, morally or prudentially compelling reasons to elect genetic testing and selective abortion in these circumstances.

Author(s): 
Faden, Ruth
Publication Title: 
Proceedings of the National Academy of Sciences of the United States of America

The formation of polyglutamine-containing aggregates and inclusions are hallmarks of pathogenesis in Huntington's disease that can be recapitulated in model systems. Although the contribution of inclusions to pathogenesis is unclear, cell-based assays can be used to screen for chemical compounds that affect aggregation and may provide therapeutic benefit. We have developed inducible PC12 cell-culture models to screen for loss of visible aggregates.

Author(s): 
Apostol, Barbara L.
Kazantsev, Alexsey
Raffioni, Simona
Illes, Katalin
Pallos, Judit
Bodai, Laszlo
Slepko, Natalia
Bear, James E.
Gertler, Frank B.
Hersch, Steven
Housman, David E.
Marsh, J. Lawrence
Thompson, Leslie Michels
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