POTS is (still) the pits

I had a good spell for a little while where the POTS and other dysautonomia symptoms improved so much that I started to question whether I had just exaggerated how bad they were to begin with, in my mind. I don't know if that sounds weird, but I have this constant worry that people will... Continue Reading →

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Repairing the Human Germline – One Small Step at a Time

As much as I find this technology really fascinating, I just see it going to some really dark places… not just because I’ve read too much Phillip K. Dick, but because so much in our culture now resembles something he wrote.

How about, for starters, a sharp decline in neurodivergent people? I can see parents being quick to want to eliminate the risks of having to deal with the disabilities autism may bring, without ever considering the gifts it also may bring. How would it negatively impact future technology, science, and medicine to lose future generations of Aspies, for instance?

Currently, a lot of employers’ insurance coverage is tied to ‘wellness programs’ whereby employees must meet certain criteria for discounted coverage, or to keep it at all. I can imagine a future world where parents might be told after prenatal testing, ‘we’ve determined your embryo is carrying the genes for X which will likely result in excessive medical claims, so this needs to be corrected in order for this baby to be covered under your insurance plan.’ Maybe that’s a good thing to prevent things like severe congenital defects that would interfere with quality of life, but where would it stop? Who would make the decision what ‘quality of life’ actually equates?

Synthetic Genetic Shakespeares

CRISPR* gene manipulation has been employed to modify human embryos (1), clinical trials of genetic editing with analogous methods are underway (2) and scientists are bristling over bans on CRISPR research (3).  The fast-evolving events suggest CRISPR gene editing techniques will migrate soon from the laboratory into new areas of clinical research. 

Establishing the Grounds for a Revolution   

Responding specifically to a recent study using human embryos (1), two distinguished scientists are now offering justifications (4) and envisioning practices (5) necessary to enable the ethical testing of novel genetic modification procedures in reproductive medicine.  Has a general consensus to proceed with germline modification been reached in the scientific community?  Dr. George Church offers several arguments to move forward and disputes the notion his scientific peers had ever called for a moratorium noting that specific word was never used in a high-profile editorial outlining their recommendations (6). 

DNA weldNotwithstanding Dr. Church’s stance…

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Fluttering along

I haven't heard anything back from the genetics center yet, so I'm just trying to be patient, which isn't something I'm good at. I've been muddling through at work, trying to get caught up, and bracing myself for the numerous people-y holidays looming ahead in the next couple of months. Did I mention that I... Continue Reading →

Obstacle course

I know I have sort of dropped off the face of the earth for the past week or so; I have been busy procuring and organizing my medical records and gathering more detailed medical history from my family for the forms I have to fill out for the genetics center.  It's been a frustrating and... Continue Reading →

My bendy family tree… 

So I had the recheck with the rheumatologist a week or so ago; as I had already seen on the online portal, the tests for Sjögren's syndrome and Lupus came back negative. He's sending me to a geneticist to screen for Ehlers-Danlos syndrome.  I don't know whether that's his suspicion, or whether he just doesn't... Continue Reading →

Pirate mode

Actual text exchange between my partner and I today while we were both at work. 😀 Me: I think I woke up with a migraine or something. Hurts above left eye and the eye is a bit blurry and twitching. Her: Oh no. From not sleeping? Me: Who knows. I think it's one of those... Continue Reading →

I dress like a six year old

I was picking up a few things at the grocery store the other day when I heard a small voice say "excuse me" and I looked down to see a little girl, maybe six years old, standing beside me staring up at me shyly. "I love your coat!" she exclaimed. I was caught off guard... Continue Reading →

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