My father is currently suffering symptoms, and my uncle died before the age of 50 from sudden cardiac death caused by HCM. While modern technology such as implantable defibrillators greatly reduce the chances of sudden cardiac death, the degenerative consequences of the disease that probably await me are daunting and scary for a fit and sporty 25 year old.
HCM has only recently begun to emerge from a dark age of being viewed as a benign tumor that can be cut and hacked away at; in reality it is an interesting condition for which drugs and treatments can be specifically developed. Some of the first generation of HCM drugs, myosin inhibitors, are undergoing clinical trials and one, mavacamten, is awaiting FDA approval. These drugs help reduce obstructive symptoms and benefit the structure of the heart, but the root cause, the faulty genes, are left unchanged and the heart continues to thicken. As the genes that cause HCM are known and can be identified by sequencing ones DNA my instinct is that HCM is particularly suited to gene therapy.
I am a recent graduate in computer science, with a bachelors and masters degree. It is hubris (and dangerous) to think that I could save or cure myself, but I have been toying with the idea of doing a PhD in Genetics or a related field and then further research on gene therapy applicable to the heart.
I don't want to start suffering symptoms later in life and regret that I played it safe and did not try to contribute to fighting HCM. It helps that I have not yet found happiness in the working world and was most fulfilled when independently learning and solving problems at university.
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My questions to you HNers:
How can I make the most impact against HCM? A genetics/gene therapy PhD? Apply to AI-aided drug discovery start-ups? Would comp sci give me an edge or just leave me playing catch-up with the biologists?
Is it sensible or healthy to even try? The slow pace of medical advancement & regulation (in comparison to software) and the very personal consequences of failure would be mentally difficult.
Would I be better off staying in software, earning as much money as possible to get the best healthcare and ensure any future children don't carry the genes? Or should I try to maximise happiness while I am still healthy (which is easier said than done)?
Thanks!
Instead, live well and celebrate that you are highly motivated to helping others, and as a computer scientist you can and will make a massive impact on an adjacent area. How about medical imaging? Or diagnostic data science? How about medical robotics or nano-surgery? You might invent something that saves millions of lives. And perhaps by good karma someone else will be looking out for you, and deliver a treatment in 25 years when you need it.
At the same time, I think if you step back a little from genetics you might find other areas where you could make a contribution that don't have as many barriers to entry. There are apps that try to connect people in cardiac arrest with nearby AEDs and people trained in CPR. Can those be improved? Is there any research on alternative fitness programs that might be more appropriate for people with HCM? If early detection would improve long term outcomes, are there better ways to test for it? Would volunteer work to raise HCM awareness while holding down an unrelated office job be your way of making a difference?
Some people build rockets to go to the moon, some people make smaller incremental improvements to airplane design, other people write pop science articles to keep the public excited about aviation and space travel. The world needs all of those people.
HCM is quite manageable, and it has a lot of research attention. With care, the actual impact on you is negligible compared to other life factors.
The story is much, much worse for others who are not diagnosed, or for others with more severe diseases, or for the overwhelming majority of others who live without modern medical care at all.
Death awaits us all. It's beyond silly to think that youth, intelligence, power, or luck can save us or justify our lives. Are you lucky that it's you at risk, instead of someone you love?
I recommend thinking about this in terms of whether it enables you to appreciate what others are going through. Then perhaps you can build a life based on compassion, instead of self-interest.
I would caution you to fill up your life outside if that quest, don't trade your personal financial or health security in pursuit of it, and find a way for it to be a "good job", i.e. work for one of the above companies or similar for a handsome living, good work life balance, good health and other benefits, etc. and don't spend your life savings on some startup and then spend the next 10 years doing nothing but that letting that drive your identity.
This is much like what I tell the younger people who work with me about pursuing art or the like: make money and make it a hobby you can love and pursue with the spare income and time your lucrative career affords you.
By pursuing a lucrative software career and investing expertise and money in the people who have the expertise maybe you can find that middle ground.
Committing your future today based on this news, is likely to be an over reaction.
Of course, having a job and doing your own thing is always important, but it is not worth wasting your whole life with. Just because there is plenty of people doing that trying to be the next Elon Musk, you don't necessarily need the same. You can chose your own way.
But you are not wrong, gene therapy (crispr) w/ cardiac stem cells, mRNA therapeutics (like the covid vaccines) and AI guided/designed therapeutics are definitely avenues worth pursuing. You would be a motivated researcher. Another way in is to be the money and figure out ways to fund the research.
You might also consider artificial heart research as well as transplant research as I assume those are future options. We may get porcine hearts in the future.
Anyway, those are the current technologies that seem promising. Is there a non human animal model of the disease?
It will be a long journey but take time to enjoy the ride whatever you do.