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Approved Research

Genetic studies of cardiovascular and neuromuscular disease

Principal Investigator: Dr Megan Puckelwartz
Approved Research ID: 82127
Approval date: April 13th 2022

Lay summary

Familial diseases of the muscle and heart are grave public health problems. These genetic diseases are often caused by changes in a person's DNA.  Each person has 4-6 million differences in their DNA and these usually do not cause disease. Despite recent progress in identifying underlying genetic changes that contribute to disease, we lack the ability to confidently predict health outcomes based on DNA sequence information alone. This project is designed to use the full suite of resources provided by the participants in the UKBB towards more clearly understanding how one's genes affect muscular and cardiac function. We will use our custom genetic analysis software to identify DNA changes  that cause muscle and heart disease. Then, we will identify individuals carrying those changes ask how well their hearts and muscles function, based on imaging data and blood panels. We will use that information to more finely predict who may be at risk; and importantly, identify people who suffer only mild disease to look for clues in their genes that may help us identify treatments for those who suffer more severe disease with the same underlying genetic changes. In doing so, we hope to make conclusions based on the type of mutations carried by people with more or less-severe disease, based on functional categorization of those genes into structural, electrical, metabolic, or reparative. Based on those conclusions, we hope to be able to tailor treatment and consultation strategies towards the individual, rather than the disease. All derivative information will be made available for public use, in accordance with UKBB policies.