UCL HUNTINGTON’S DISEASE RESEARCH

INFORMATION FOR PATIENTS, RELATIVES AND CARERS

UCL HUNTINGTON’S DISEASE RESEARCH

GENETIC MODIFIERS

Genes are made up of the genetic material called DNA.  DNA is the code for all life and is made up of a combination of 4 ‘letters’ — A, C, G and T.  The HD gene provides the code for the huntingtin
protein
, and everyone inherits two copies of the gene — one from each parent. We know that the cause of HD is a genetic change creating a long sequence of repeated C-A-G’s in the HD gene.

HD is variable: people first develop symptoms at different ages, and symptoms get worse at different rates. While most of this variability is explained by the number of extra C-A-Gs an individual has this does not tell the whole story. Around half of the remaining variability is likely to be explained by genetic differences between people, and the rest is likely to be due to environmental factors.  We aim to obtain different types of genetic information including data from a genome-wide association study, exome sequencing and RNA sequencing and integrate them to identify the genetic factors that alter disease onset and progression. Identifying these factors means we may be able to interfere with them using targeted treatments to slow down the disease or delay its onset.

This study involves some of the clinical data and blood samples collected as part of TRACK-HD and REGISTRY.  We are not recruiting subjects separately for this study.

gene

 

Updated February 13, 2013