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Imprinting disorders associated with molecular changes on chromosome 11p15

Published on September 3, 2014   37 min

Other Talks in the Series: Molecular Genetics of Human Disease

0:00
So my name is Rosanna Weksberg. I'm a Clinical Geneticist at the Hospital for Sick Children and the University of Toronto in Toronto, Canada. And I'm going to be talking about imprinting disorders associated with molecular changes on chromosome 11p15.
0:20
The objectives of the talk are to review the general concepts of genomic imprinting and epigenetics, to identify alterations in imprinted genes on chromosome 11 associated with two human disorders-- Beckwith-Wiedemann syndrome and Russell-Silver syndrome, to review current molecular testing for these conditions, and to review challenges in the management and counseling for these conditions as well.
0:50
What is epigenetics? Epigenetic modifications can change gene expression patterns without changing primary nucleotide sequence. These include mechanisms such as DNA methylation, which is what the focus of this talk will be, as well as chromatin conformation, histone modifications, and RNA silencing.
1:15
Epigenetic regulation forms the molecular basis for genomic imprinting.
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Imprinting disorders associated with molecular changes on chromosome 11p15

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