Tag: Hugh Watkins

Times of London Shines Light on HCM

Published on by hcmbeat1 Comment

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?

Published on by hcmbeatLeave a comment

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?” →

Different Treatment for Non-Genetic Hypertrophic Cardiomyopathy?

Published on by hcmbeat3 Comments

Many HCM patients, perhaps even the majority, are currently unable to identify the specific gene behind their HCM through genetic testing.  Despite this obvious difference, family screening, risk stratification and treatment standards are no different for patients who carry a HCM gene and those who do not have identified gene(s).

A recent article published in Circulation suggests that there ARE differences which should result in different treatment for this subset of patients.

In particular, non-sarcomere positive patients:

  • have a better prognosis, with lower rates of heart failure, sudden death, atrial fibrillation and stroke
  • Have lower incidence of family members affected by the disease
  • Are more likely to have additional medical conditions such as obesity, hypertension and diabetes

The article by Dr. Hugh Watkins, a British HCM and genetic expert, suggests that:

  • the risk to first degree relatives of this type of HCM patient is less than 50% and therefore, there is less need for repeated screening of relatives
  • Hypertension should be treated more aggressively in these patients.

Read more about non-genetic HCM here and more about screening these patients here on HCMBeat.

HCM Genetics Discovery by British Researchers

Published on by hcmbeatLeave a comment

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.