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> getting infected with the zika virus (probably the best thing to do IMO

Virology based methods don't last very long because the immune system adapts quickly. If you want to go down that route, make sure you have experts on hand.


You should try to convince the others on the Facebook groups to undergo full genome DNA sequencing (around $1K USD, usually not covered by insurance, I would pay for the other patients if I were you, their data is more than worth it given it’s your life on the line) and submit the data to patient networks and orphan drug groups. There are lots of bioinformatics methods now (thanks to mostly advances in ML among other things) that can derive insights into the problem, without any physical assays or laboratory tests.


DNA sequencing has been done, we know the HLA[1] is a part of the disease. I don't think any more DNA will help find a cure or even a way to help. PSC is a complex "black box" disease. A person can have the DNA but not have the disease.

BUT... bile and fecal samples still seem to be of high value for data collection. I've spoken with the doctors at PSC Partners to start advocating this collection, but they've noted that they don't have a way to process and store. Yet other clinicians have been doing this. I want to look into this more to help bring it all together (data is fun!), but haven't had to the time (single parent).

[1] https://en.wikipedia.org/wiki/Human_leukocyte_antigen


> the mitochondria is the powerhouse of the cell

The explanation doesn't get much better at higher levels. You have the Krebs cycle which biology people religiously memorize but it doesn't really explain much either. The actual interesting part is usually handwaved away as "magical enzyme/protein" catalysis. Understanding how the mitochondrial proteins/enzyme catalysts function would usually require a graduate degree, and maybe a background in biochemistry and biophysics.


If you haven't, I suggest you look up an on how ATP Synthase uses the proton gradient to create ATP. It's quite amazing. It's literally a little nano-machine.


Also "off target effects".


Most of the pop sci books are useless for practical use cases, and similarly the Feynman lectures self select for the physics/mathematically inclined.

Biology is a leaky abstraction, it's very hard to do anything with rigor without having a strong foundation in the fundamentals. You see the same discussion on hacker news when it comes to music, people are more interested in mapping programming concepts to music notation and complaining about western music presentation than the music itself. For biology, you need need to have a firm understanding of the central dogma and biochemistry if you want to do anything beyond surface level empirical trial and error. Most people, especially the "hacker types", only have a vague understanding of the former i.e. DNA translation and transcription and that's about the limit. You absolutely have to gain an intuition for biochemistry if you want to do things with rigor, otherwise you will just be the biotech equivalent of a bootcamp web developer, fit for washing test tubes and not much else.


Absolutely right. These basic concepts like the central dogma aren't especially hard to learn, but it's important to really understand them deeply if you want anything to make sense.

Among textbooks, Molecular Biology of the Gene by James Watson et al. is a good starting point to understand the central dogma: DNA -> RNA -> Protein. Likewise Molecular Biology of the Cell by Alberts et al. for cell biology.

An Introduction to Systems Biology by Uri Alon is good for the more mathematically inclined once you're ready to get more advanced, though you should really have a solid grasp on the fundamentals of molecular and cellular biology first.

None of this is for the faint of heart, but it's not especially difficult either. It's unfortunate that it's hard to get hands-on experience with biology once you've graduated from college, which helps a lot to connect the dots, but there are still plenty of great resources out there.


Molecular Biology of the Cell is one of my all-time favorite books. Read it 15 years ago, rereading it now in the 7th (newest) edition. If someone has read the books you've listed, done the exercise and has a comprehensive understanding of the material, but no biology degree, only a passion for learning about cell biology, are there job options to keep feeding that passion?


Work/volunteer as a minimum wage software developer lab rat (or whatever your day job speciality is). There are plenty of labs that are in need of free labor when it comes to software/engineering support in general, just ask around.


If you're an experienced software developer, you can also just get a job as a software developer at any number of companies in pharma and biotech. No need to do it for free.


> the central dogma: DNA -> RNA -> Protein

Funny thing : having never seen the term "central dogma" before, I looked it up, and Wikipedia says that this one (directly calling out your reference) is an incorrect version, in fact has been proven wrong in the last decades, while the original Central Dogma holds.

Even funnier thing : I kind of lied : I saw that term for the first time two weeks ago... when watching Neon Genesis Evangelion. Where it's a location. But then I guess it also throws around terms like "apoptosis" (which I did knew and which made me raise an eyebrow) as sciencey sounding words (still somewhat appropriate to the context in a metaphorical way), so of course it couldn't resist "Central Dogma" as a play on words between biology, location, and (anti-) "Orientalization" of Christianity !


The Wikipedia article is correct in a pedantic way, but for all practical purposes, DNA -> RNA -> Protein is the place to start. Then you layer on the myriad complications that have evolved over four billion years.


No, no, no. Explanation is inaccurate. The central dogma is the central dogma because information flow is primarily one way (yes there are exceptions i.e. epigenetics but primary information flow is from DNA to protein) and this is the fundamental tenet underpinning our current understanding of biology.

> A multicellular organism gametes divide only a handfull of times per generation.

That's what recombination is for during sexual reproduction.

> It does not contain informtion how to assemble the molecular machines from the proteins, or how "to be alive" in general.

Unless you subscribe to the creationist or Larmarckian schools of thought, this is flat out wrong. DNA polymerase and similar analogues like reverse transcriptase do not exist in a vacuum. There are entire branches of evolutionary biology dedicated to studying their formation. The main transcription proteins, helicase, polymerase, and ribosomes can all be assembled from the basic proteins they themselves transcribe. (Incidentally figuring out the ultimate structure that a protein chain assembles into is what AlphaFold does, bioinformatics and ML's crowning jewel)

> There is heritable information outside of DNA, that is epigenetic in its nature.

When biologists refer to epigenetics, they mean information carriage that's not strictly tied to the nucleotides. This doesn't meant DNA isn't involved. Most epigenetics I can think of off the top of my head all involve the DNA transcription mechanism in some way.


> This is still relevant to his concern, but from the other end. They might be making the labor artificially scarce to increase pay.

This is very much true. I find that a lot of people in tech seem to put healthcare on a pedestal and believe that the professionalisation and gatekeeping of the industry create a better outcome than other engineering fields. This is very much untrue, the healthcare field is in need of massive disruption and lobbying to increase labor supply. You are being downvoted because a lot of tech people here hate to imagine that healthcare at the highest level is still subject to market forces like everything else. Medical training is being severely gatekept and hindered via the current apprenticeship/residency system. After all, we call the worst medical student, doctor. If you want to improve healthcare, tie medical school admission to the MCAT score, and only the MCAT score. You are not going to get better doctors just because candidates spend their summers building houses in some impoverished third world country.


I live near Boston which is known for its medical centers, so this might skew things somewhat, but it seems like every graduate I know is going into medicine of some form (surgery, anesthesia, nursing, surgical tech, hospice, etc. etc.)

I heard consistently that residency slots are extremely competitive and a lot of qualified candidates get passed over. The more I learn about the process the more insane it seems.

From the student perspective you go from paying to work one day and spending most your time working cases with zero relevance to your actual specialty, to raking in several hundred thousand a year.

It also seems like hospital systems seem to spend more than half their capacity either dealing with patients that don’t need to be there but there’s literally no place to send them, or patients that are too far gone and untreatable but there’s literally no place to send them.

Healthcare is like a Gordian knot of terrible policies cemented into place by trillions of dollars of government spending.


We turn away beyond capable people, it’s just that we have decided to drastically reduce the number of doctors per capita by artificially limiting the number of medical schools.


It's not the number of medical schools that is the issue, it's the amount of residency spots available after graduating med school (in the us).


Note FDA rules require them to retain the data for a few years.


Any idea what the reasoning behind these FDA rules is?


European here: I can't wait to use my gdpr superpowers to cause an expectation violation there.


Doesn't the GDPR have an exception for data required for legal reasons?

Anyway, an US lab won't care about it.


It has some cut outs, but not as many as you would think.

The US lab is marketing to EU customers. They will care about GDPR (heck, they even claim to be compliant on their website).


There is a bigger iceberg lurking around. Look up the people who control medical school accreditation and funding. They have more blood on hands than many other industries put together. Medical innovation has been slowed down by magnitudes because of their gatekeeping.


It’s not just medical schools but the entire pipeline from there into professional accreditation by limiting residency programs working with Congress to cap them as part of Medicare legislation / funding. It’s only recently that the AMA agreed to lift the spots.

There’s a lot of reasons that the US has to keep importing in doctors and nurses at lower end of market rates while our medical costs as a system soar into unaffordability and bleed into increasing costs for every single other private sector possible. If Big Oil did this they’d be practicing racketeering and price gouging in the open.


Not just funding and accreditation, but admissions as well.

https://en.wikipedia.org/wiki/Jung_v._Association_of_America...


More specifically pseudo science not guided by empiricism. The line between science and pseudo science is very thin. Scientific theories are often incorrect, especially in life science, but we refine upon them based in empirical and observed data.


You are right, but when results are falsified because of political expedience, that refining process will be subverted or discarded altogether.


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