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Advances In Medical Genetics

Introduction
 

With over 99% of the human genome now sequenced and huge steps forward in our understanding of gene regulation and epigenetic mechanisms in disease, genetics has advanced at a rate few would have predicted thirty years ago. Whilst the genome map has not revolutionised the practice of medicine in the way that some predicted when the sequence was published in 2003, these are exciting times for genetics and clinical genetics. We have moved beyond the genome and the genetics changes underpinning many common cancers are now becoming better understood, as is the interaction between traditional risk factors and genetic susceptibility.  


This seminar is designed to provide general practitioners with up-to-date information regarding the genetics of common diseases, including autism, schizophrenia, cancers and heart disease. It will explore topics such as proteomics, gene regulation, retrotransposons, copy number variation and transgenerational epigenetics.

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Who Will Benefit?

 

This tutorial is designed primarily for those involved in making risk assessments and diagnoses, however it will be useful for any health professionals with an interest in modern genetic theories and the hereditary basis of disease.

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Aims of The Seminar
 

There are three main aims to this tutorial:

 

  • to review genetic mechanisms, considering transcription and translation, gene regulation, epigenetic biochemistry and copy number variation;

 

  • to discuss the genetics and epigenetics of common illnesses, including schizophrenia and cancer, together with pharmacological treatments in development;

 

  • To review advances in clinical genetics.

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