Tag: British Heart Foundation

New Imaging Techniques Spot HCM Before it Develops

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Research funded by the British Heart Foundation using novel cardiac imaging techniques was described in a recent article in Circulation. These techniques, such as quantitative perfusion cardiac magnetic resonance imaging and cardiac diffusion tensor imaging, can detect pre-clinical hypertrophic cardiomyopathy (HCM) before the development of any thickening in the heart.

With novel treatments like myosin modulators now available to patients, and with  experimental treatments such as gene therapy now on the horizon, these new imaging techniques could allow doctors to intervene at a much earlier stage in order to potentially prevent disease.

You can read more about these imaging techniques here.

Times of London Shines Light on HCM

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Just in time for today’s HCM Awareness Day, on Sunday the Times of London ran a feature story about the work that U.K. professor Hugh Watkins and his team are doing to find a cure for HCM using gene therapy.

The story begins with an interview with Massachusetts resident Wendy Borsari, who shared the tale of her family’s extensive and tragic history with HCM.  Over the past several generations, 27 members of Wendy’s family have suffered from HCM, and family members have endured 7 heart transplants and 18 deaths.

On a personal note, Wendy has worked tirelessly for many years to improve things for other HCM patients, and she was integral to the creation of HCMBeat. You can read her guest blog about her daughter Ashlan’s cardiac arrest right here.

Going back to the Times feature, the focus of the story is on the work that a team led by Dr. Hugh Watkins is doing under the name the Cure Heart Project.  The project was funded by a £30 million grant ($36 million) from the British Heart Foundation which the team won last year.   Over the 5 years of the grant, Dr. Watkins and his team are testing multiple gene therapies intended to treat genetic cardiomyopathies. The team plans to have their technology ready for human trials by the end of the study. The hope is that these treatments will stop progression of disease, possibly reverse some of the damage, and if given early enough, the scientists hope that the treatments can prevent the disease from developing at all.

Clinical trials would start on the sickest patients, such as those who are waiting for a heart transplant. Once they demonstrate that the treatments work, they hope to administer the treatment to gene positive patients who have not yet developed the disease with the hope that in these patients, it would be a cure.

With so much work being done around gene therapy for HCM, sooner or later, someone is going to be successful.  We just hope it is sooner rather than later!

HCMBeat has written several previous blog entries describing the work being in hopes of finding a a genetic cure for HCM.  They are linked below.

Gene Therapy – Is a Cure for HCM Around the Corner?

Tenaya Therapeutics Gets Go-Ahead for HCM Gene Therapy Trial

Gene Therapy – Is HCM Cure Possible?

Gene Therapy for HCM

Targeted Gene Therapy for HCM

The Future of HCM Treatment

HCM Genetics Discovery by British Researchers

The Future of HCM Care

CRISPR Eliminates HCM Gene !

Gene Therapy – Is HCM Cure Possible?

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A team of international genetic researchers has just won “The Big Beat Challenge” – a grant from the British Heart Foundation of £30 million ($36 million) payable over a 5 years period to study potentially curative gene therapies to treat genetic cardiomyopathies.

Continue reading “Gene Therapy – Is HCM Cure Possible?” →

HCM Genetics Discovery by British Researchers

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A recent discovery by British researchers sheds light on how a type of common genetic mutation – a so called “common variant” – influences the expression of hypertrophic cardiomyopathy caused by mutation(s) in the cardiac sarcomere. 

How do Common Variants Impact Sarcomere Mutations?

This research, funded by the British Heart Foundation and spearheaded by Dr. Hugh Watkins of the University of Oxford, explains why some individuals with a particular sarcomere mutation develop a severe case of HCM, while their family members with the same mutation may develop only mild HCM symptoms or show no signs of the disease at all.  It also may explain why people who lack sarcomere mutations develop the disease.

The researchers compared the DNA of 2,780 people with HCM and 47,486 people without HCM and found that common variants acting in concert with rare sarcomere mutations determine whether a person will develop HCM. 

Common Variant HCM Not Hereditable

In addition, the researchers found that HCM attributable to common variants alone is unlikely to be passed on to future generations. This is good news for the children of HCM patients caused by common variants.

Watch your Blood Pressure

Lastly, this paper found that high diastolic blood pressure was associated with the development of  HCM caused by common variants. Hence, keeping blood pressure under control is something that patients can do to minimize their risk of developing HCM in the future.

A link to the study in Nature Genetics can be found here;
You can access a thorough summary by the British Heart Foundation here;
and you can find a short summary at Medical Xpress here.

Duchess Kate’s Sister, Pippa, Supports British HCM Charity

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Pippa Middleton, who came to the public’s attention during the wedding of her sister Katherine to Prince William, has recently dedicated her efforts toward raising money for HCM genetic testing and research.  Middleton’s efforts are in honor of her late friend Miles Frost, who was lost to sudden cardiac arrest due to HCM in 2015. Frost’s father, British journalist and media personality David Frost, died from HCM just two years earlier in 2013, but this information was never communicated to the family.

The Miles Frost Fund, a partnership with the British Heart Foundation , helps families who have lost a member to a sudden death obtain genetic testing in order to learn if other family members are similarly affected. The Frost Fund also funds research by U.K.researchers working towards finding a cure for HCM.