12 ms·

Saving Lydia

639 points by dsr12 7y ago

amelius 7y ago
> This is a classic long tail problem — no mutation is common enough, but collectively there are tons. The existing Pharma approach to treat these is broken — they look for common typos and fix them with long drawn out trials. This barely makes a dent. Worse, they have put each in its own bucket and labeled them as rare, so the majority of the world feels they‘re not important to fix. Shouldn't this be viewed more at the pathway level than at the base-pair level? Pathways have redundancies, and medicine can address a pathway. Focusing on base-pairs seems like a race you can't win, unless we have the technology that can reliably fix single nucleotide mutations.
- deleted 7y ago
  [deleted]
- DrAwdeOccarim 7y ago
  That's the super exciting and interesting part of literally today. There are two new technologies that are about to combine that will probably get us to "reliably fix single nucleotide mutations." in a platform sense within the next 5 years. The first technology is the production and delivery of messenger RNA made synthetically, and the second is the fusion of the recognition portion of CRISPR with a class of enzymes known as base editors. Of course we'll have to start with the liver and with diseases that move the needle (i.e., not N of 1), but once the technology is approved in this case things get a lot more interesting for other genetic diseases that don't move the needle. Tim Yu developing the ASO for Mila is the perfect example of how once the technology is working for a money-making indication, less profitable treatments can follow. If you want to read more about this, check out Beam Therapeutics, Moderna Therapeutics, Intellia Therapeutics, CRISPR Therapeutics, Editas, STRAND Therapeutics, Translate.bio, BioNTech, Josh Rosenthal at Woods Hole, Feng Zheng at MIT/Broad, and David Liu at Harvard.
fjfaase 7y ago
My son too has a unique and disabling mutation. As far as I know, he is the only person with this mutation, but there are more people with a mutation in the same region of the gene, that are affected in the same way. The problem with some mutations like this, is that they have an effect on the development of the brain from the start of the development and that fixing the gene (or better its RNA transscription) will not undo that development. The results of IQ tests seems to indicate that with my sons mutation, there is a problem with the myelination in his brain. Myeliniation is a process that starts before birth and continues into adolescent. At the moment he is quite happy and functioning well within his limits. His 'academic' IQ is rather low, but in some areas, he surpases the average person by far. He has a great sense of humor and people like him. In his case, I am really afraid what would happen if we would administer him a drug that would compensate for the genetic defect. Would he go through another fase of brain development and having to cope with all kinds of changes. Could he end up being less happy, because it would remove his ignorance about certain things. For example, at the moment he has no desire for a romantic relationship, but getting such a desire and than still not being able to satisfy it, could make him very unhappy.
- tapland 7y ago
  I have one as well that is herideraty but no relatives have it (tested after finding out I had it). I think it's usually something like 1 in 400k people having a mutation of a specific gene.
  - fjfaase 7y ago
    De novo mutations (DNM), that is new mutations, is rather high and increases stronly with the age of the father, because sperm cells are produced by continued cell divisions, where the egg cells of women are produced before birth. With the mother there is also a slight increase over time, but the number of even old mothers is lower than that of young fathers. Luckily, only a small part of the DNM occur in genes and some mutations are not even harmfull, due to how triplets of base pairs are decoded into amino-acids. And then there are also many mutations that do have an effect on the protein being produced, but that the difference does not have a great effect. For most genes there are many variants, which all leads to working proteins, some of which might work slightly better than others in some area and maybe (slightly) better in another area. (Just recently there was a news item about how humans lack a certain gene compared to other mamals, which increases our risk with respect to cardiovascular disease, but apparently also increases our ability to walk/run long distances.)
ailideex 7y ago
> I’m Open Sourcing My Baby to Save Her and Others Nope, that is not what you are doing.
- rvz 7y ago
  Exactly, I just read the title and it was very confusing for me to understand what the article was about. Sometimes when I see titles like this, it is better to just get to the point rather than confuse readers with these silly titles. Apart from that, it was a very good read.
  - raxxorrax 7y ago
    True, but this is one of the cases where I don't mind clickbait as much. Getting attention should be the goal.
    - rat9988 7y ago
      I do mind it. If your cause is meaningful enough, you don't need to resort to click baity titles.
      - rndgermandude 7y ago
        You people discussing semantics and even "clickbait" in this context truly make me sad.
      - DoreenMichele 7y ago
        So, how would you suggest it be titled or framed? It's a new approach. There's a serious language issue here in that truly new things don't really have proper words or phrases for them yet. They need to be invented. That's usually done by initially borrowing on existing concepts that are as similar in some way as possible. This problem space also seems particularly thorny. Even people who have genetic disorders -- or who have a child with a genetic disorder -- may not understand some basics about how genetics works.
- 7y ago
mangatmodi 7y ago
So there is a cure, but it is not profitable and no body is doing it? Society has evolved so wrong, when we can't provide basic needs to everyone despite (probably) having enough for everyone. I wonder how many people are living a miserable lives, without knowing they can b e treated. Do I have to Ph.D in every medical science to make sure my kids get a treatment what they deserve?
- carlmr 7y ago
  >Society has evolved so wrong, when we can't provide basic needs to everyone despite (probably) having enough for everyone. I mean there are 3 people (as far as they know) with this specific mutation. Time, money, and capable scientists are limited. Allocating these resources efficiently means that the more rare disease don't get as much attention, but this also means that you're saving more people. Just not those with the rare conditions. From the article > The rare label is wrong and limits progress. These are not rare. These are genetic and have the same root cause. We need a systematic, platform-driven approach to fix these typos. We need a spell check. Yes, there are millions with some mutation. But changing around mutations needs to go through some form of medical process to see if it's safe. The current processes are there because historically there has been a lot of abuse for profit. We can't just platform allow any genetic editing. Some of these edits might be dangerous.
  - mangatmodi 7y ago
    @carlmr, I understood the position better now. Maybe states should completely fund or control medical researches. This is one thing which should never be done for profit.
    - swebs 7y ago
      >For Lydia’s, there are only two others in the entire world — one in Greece and one in England Both countries with socialized medicine and yet they still didn't come up with a cure. It happened in one of the most, if not the most, capitalistic tech-hubs in the world. Maybe there's just something about the private sector that gets things done.
fevangelou 7y ago
If modern medicine was 10% open source, the world would be 110% a better place.
blueboo 7y ago
Something weird is going on with this lady...wasn't the campaign originally 1 or 1.5m? Now it's 2.5m for a vastly more ambitious goal? Kickstarter tawdriness is creeping into what was otherwise a gold-plated medical GoFundMe.
- rohanseth 7y ago
  This is our bad. When we had shared at Google, we thought the cost would be $2 million. We didn't include the money we had put in or received, so we shared our goal as $1.5million. Before sharing more publicly, we decided to update to the actual amount and had also learned that some costs would be higher than expected (toxicology package would be higher, clinical care wasn't going to be covered by insurance etc.). We had put a little note describing this in the FAQ, but I understand that no one reads those. For what it's worth, our goal from the very start was to openly share the process and logistics because we are truly convinced that this N-of-1 process can be repeated quite easily. Perhaps, at the very least we can squeeze the time for the next motivated parent to learn all this from 6 months to 1 months.
fareesh 7y ago
What does it mean to "silence" a mutation? If that particular gene is different compared to humans who don't have the same developmental condition, then is the medicine able to instruct the cells to replicate in a way that ignores the mutation and not carry the defect created by the mutation? Or does the medicine supplement the role of whatever that cell is supposed to do? (Assuming this affects some specific roles cells)
- sjg007 7y ago
  There are two alleles for this gene. You get one from your mom and one from your dad. In this case one allele has a mutation that is causative. So you inject some anti-sense RNA matched to that mutation, it will bind to the mRNA of the transcribed mutated gene DNA. Since it is now bound up, the mRNA cannot be translated by the ribosome and turned into protein. This means that only the other allele (without the mutation) is translated into protein.
ausbah 7y ago
This sounds like an absolute lifesaver for a bunch of people! I'm surprised more people in the comments aren't even a little more enthusiastic.
- remeq 7y ago
  Playing around with words like "open sourcing" is not a good idea in semantics-sensitive dev community. Not even what it comes to pretty little babies
dusted 7y ago
It is an excellent point, genetic mutations may have wildly different consequences, but they are all the same fundamental issue: genetic mutation.
acd10j 7y ago
I am in little dilemma about this , should we really aspire to suppress/treat every faulty genetic mutation however rare. One of the evolutionary natural balance we have is : unfit mutation does not gets passed around in form of further offspring. As carrier usually dies before child bearing age. If we suppress all of these faulty mutation and they in turn get passed along in their kids we may risk raising whole generation of pharma dependent generation.
dusted 7y ago
The article makes the excellent point that, although various genetic mutations have wildly different consequences, the root problem is the same: Genetic mutation. Sounds like there should be a generic fix somewhere.
- twodave 7y ago
  I mean, you'd have to have a reference genome basically, right? How do you even define such a thing...
- shultays 7y ago
  I am not a doctor but i would imagine most genetic problems would be too late to fix once you are born. And the one that are fixable would require you to fix syptoms rather than dna itself. So "a generic fix" is probably impoasible
  - mikepurvis 7y ago
    It might be too late for today's babies, but if you could build a big enough catalog of mutations and suspected/confirmed ill effects, then you'd potentially be able to catch thousands of these mutations essentially at conception and supply a custom therapy right then and there to correct it before any brain development has begun at all.
    - lazyasciiart 7y ago
      Most people don’t even know when they conceive. A significant number of pregnancies end in miscarriage without the woman ever knowing. Lack of a catalog of issues is only the first obstacle to any kind of “correction at conception”.
    - adrianN 7y ago
      If you catch the problem at conception, the easiest way seems to be to abort and try again.
      - 7y ago
inmate4587 7y ago
Well.. it is an excellent idea.
elcomet 7y ago
"My haby"
- alberto_ol 7y ago
  the typo in the headline should be fixed
b_tterc_p 7y ago
The headline has changed for me to include a typo? “... sourcing my haby”?
- ModernMech 7y ago
  Only reason I clicked was to find out what a haby was.
  - monkeydust 7y ago
    Likewise. Guess it worked then!
dlphn___xyz 7y ago
its crazy how people support medical experiments on a child but will call child protective services if you feed your child a vegetarian diet
- amthewiz 7y ago
  Who does that?
- Xelbair 7y ago
  One can lead to normal life for the child if the condition is severe. Not doing anything can hinder child's future, while medical experiment can save the child. Other has no positive benefits, while it can be dangerous to the child.
- logiclogic 7y ago
  I know many parents who feed their children a vegetarian diet without any health issues whatsoever. The cases I have read about in the newspapers were parents feeding their kids a vegan diet without a sufficient amount of calories and their kids literally starved from not getting enough energy to live. You can not live off eating only tomatoes and salad every day but you will be buff if you eat beans and lentils every day. Edit: A vegan diet requires more knowledge to get all the sufficient vitamins and these parents obviously fucked it badly.
acomjean 7y ago
There is a whole network of undiagnosed diseases. They’re getting better at replicating these mutations in model organisms which can help figure things out faster and less expensively. https://undiagnosed.hms.harvard.edu/ https://undiagnosed.hms.harvard.edu/
DoreenMichele 7y ago
For Lydia’s, there are only two others in the entire world — one in Greece and one in England. That we know of. There may be many more who were, say, born in a developing country and simply died without ever being identified as having this issue. I generally agree with the impetus here to find some way to generalize treatment for "orphan" diseases so that more people have some hope of effective treatment. I have no idea if this particular approach will yield any real benefits. Orphan disease: A disease that has not been adopted by the pharmaceutical industry because it provides little financial incentive for the private sector to make and market new medications to treat or prevent it. An orphan disease may be a rare disease (according to US criteria, a disease that affects fewer than 200,000 people) or a common disease that has been ignored (such as tuberculosis, cholera, typhoid, and malaria) because it is far more prevalent in developing countries than in the developed world. Source (I don't recommend actually clicking on it. It had at least two pop-ups.): https://www.medicinenet.com/script/main/art.asp?articlekey=11418 https://www.medicinenet.com/script/main/art.asp?articlekey=1...
deskamess 7y ago
Parental hurt is an altogether different kind of hurt. I have felt it in a few cases but 'life struggle' issues are likely on another level. I can empathize only to the limits of what I know and can only wonder how, and hope, they continue to stay strong.
- kohanz 7y ago
  This. My heart aches on a whole new level when I hear/read/experience children and parents going through such hard things. We've had very close friends lose children at a very young age and it's heartbreaking. I have nothing but sympathy for everyone involved and admiration for the strength of the parents. Few people are more motivated and capable than parents being told that a problem that affects their children cannot be solved.
ycombonator 7y ago
This is heartbreaking. Thank you for bringing the awareness. Hold that child tight.
JPLeRouzic 7y ago
Would not it be possible to create an open source project for a generic platform for antisense oligonucleotide therapies. I mean publishing the hardware for a high-performance liquid chromatography, possibly 3D printed and the controlling software? And the platform would produce the desired antisense oligonucleotides from an easy UI, like just describing the desired mutation, and the software would deal with the details?
rohittidke 7y ago
I am trying to donate from Germany but can't because of an error. Not a valid phone number. Any body faced the problem?
lettergram 7y ago
I’ve seen the title of this article change at least three times. I actually think the “saving Lydia: open sourcing by baby” may be the most descriptive.
vasilia 7y ago
Hope that will help Lydia to have a good long life and other people.
pi-squared 7y ago
I am truly sorry for your situation. I wish you all the best with being able to get the support needed, push science and open research forward and potentially save your child (and many more human beings) from this immense suffering. However... > Birth defects affect one in every 33 babies (about 3% of all babies) born in the United States each year. [1] Why do we keep having children? Every life comes with a death sentence and immense amount of suffering. This child will have more than average. Any rational or self-proclaimed rational human would quickly decide against these odds. Did you not know them? How do you decide to have children having this probability of impact (if people actually decide or we are just biological machines following our animalistic trend). Overpopulation is the same as obesity crisis - lack of control. But don't take it from me, here is why RMS won't have children [2] Apart from all that, having a child way, way overshadows any other effort on climate change [3]. Deciding not to have JUST ONE child and you will "deserve" multiple transatlantic travels, cars, eating meat, not recycling and more... If you can afford it and can controll yourself at all - stop having children. For the couple(s) that already crossed that treshold - again, all the best. For the couple(s) that haven't and know this information and then you suffer - it's on you. Flag me all you want because I wrote that in anger. But get the message around somehow. [1] https://www.cdc.gov/ncbddd/birthdefects/data.html https://www.cdc.gov/ncbddd/birthdefects/data.html [2] https://stallman.org/articles/children.html https://stallman.org/articles/children.html [3] https://iopscience.iop.org/article/10.1088/1748-9326/aa7541 https://iopscience.iop.org/article/10.1088/1748-9326/aa7541
- deleted 7y ago
  [deleted]
- hombre_fatal 7y ago
  > If you can afford it and can controll yourself at all - stop having children. If you are smart, empathetic, and can raise a human who is curious and respects others, you should do it. The future depends on people like you and your offspring. If you can afford a child and are reading this forum, you are in a demographic among the most capable of raising children with the most access to knowledge, resources, and opportunity. You're barking up the wrong tree.
Causality1 7y ago
Excellent article. It's my belief the medical industry suffers from a "take no action" bias. They believe letting ten thousand people die from inaction is better than a treatment that will kill half of them and save the other half. When it comes to people who are going to die or suffer for the rest of their lives, I don't see anything wrong with "move fast and break things".
AtlasBarfed 7y ago
Genetics-specific treatment is what medicine should be working toward. Currently it is structured to make-pill-mint-money for drug companies. If a disease/treatment isn't mass produced, THEY DON'T CARE. Medical devices are a bit closer to what is needed, but fundamentally they are run by the same business models. Instead what will probably be required is a lot of specific testing (labor intensive), computational analysis (some labor and analysis) that produces the necessary treatment formula (or CRISPR design, etc), and then something that produces it. The margins won't be great, so no MBA-driven healthcare will care about that. The biggest disease that needs this approach to approach a "cure": CANCER. Cancer, even the "common" ones, are the result of dozens of varieties/combinations of gene malfunctions. First world nations should pool money to start a multinational infrastructure that includes continuous improvement. Sections of this can probably be make profitable, but those will probably be lots of small companies. All of which would be GREAT for employment.
- dmix 7y ago
  I don't see why you repeatedly accuse MBA people or the pharma scientists of not "caring" then proceed to explain multiple reasons why it's infeasible as a private business or even an academic or public organization. There's plenty of serious health issues constantly competing for a small pool of smart medical peoples attention and with a limited capital. Genetic tailoring still currently involves a high amount of specialist attention per individual and there is plenty of research and money going into it. I've heard multiple doctors tell me it's the future of medicine. Whether it could use more attention and capital is certainly a good question.
  - AtlasBarfed 7y ago
    Because I've seen these organizations from the inside. The ripe profits going through drug and device companies, and the fact they can be profitable but not TOO profitable, mean they are full of huge executive structures of overpaid businessmen that stifle investment and certainly block any sort of political progress on American medical costs. I didn't say it was infeasible. It's infeasible in the current investment and oligarchical environment: these companies would be stamped out or blocked from competition. There is lots of opportunities for medium-sized companies to thrive, but the governmental aspects would help to kick start it. All medical treatment is a governmental partnership with private sector at a minimum, in all modern medical establishments. A fundamental change to how medical research and treatment is pursued would take regulatory changes as well as financial prompting by governments. Just let me emphasize: the MBAs that live in American drug and device executives are slime. The bastards that pushed the opioid crisis on America are just the same, they just push different drugs.
nellylucia431 7y ago
Yes the world is turning into different place this was never what anyone expect or pray for been HIV positive was never any wish, why do some people uses this mean in extracting money from other people. I was a victim of a doctor by name OGBODO, who uses the mean of curing different disease to extract money from people. After that I never give up all through they said that no cure for HIV/AIDS that the virus destroys the cell system. I went ahead searching in different way, I can across someone saying about doctor TAIYE have cured him from this virus that he lives in Africa, I checked he was on phone call but I diverted my attention from it because the same doctor OGBODO was from Africa too. But my heart keep bothering me I decided to confront him to my surprise all the test result shows negative that nothing has ever happened to his system, I was really short of words afraid for not to be fooled again but I encouraged myself and contact him at dr.taiye@gmail.com he responded and asked me to send my details just as the first OGBODO did I started doubting him, but I tell myself that I will not allow my past to destroy my future, I started focus. he get the cure prepared and tag with instructions to use for 14 days because it has stayed go in my system, I used the cure for 7 days my health was fit but my excreta was just as blood although. immediately I contacted the doctor he said I have nothing to worry about that it going to last for the rest 7 days although I was in pain but after the 14th day I went straight to my doctor and I was tested HIV negative, doctor Felix is still in shock now, he is now referring people to doctor TAIYE. Am free from this virus all because of my faith and heart consolation I never waited for anyone to advice me but my heart and me. I don’t know what you have been through but believe me nothing last forever. Doctor TAIYE is waiting for you today just to make that decision from this hard time. Contact him via email dr.taiye@gmail.com . Just because something or someone have failed you before don’t mean everyone is going fail you all time have a think of mind ‘’is there a problem without a solution?’’ Am NELLY LUCIA from Orlando and I was diagnose 2008 cured by doctor TAIYE 2019 contact me via mailing nellylucia431@hotmail.com or nellylucia431@gmail.com for any question
hkai 7y ago
With whole exome sequencing now at 500 USD, personally I will start by testing myself and my partner for hereditary diseases before having kids.

639 points by dsr12 7y ago

> This is a classic long tail problem — no mutation is common enough, but collectively there are tons. The existing Pharma approach to treat these is broken — they look for common typos and fix them with long drawn out trials. This barely makes a dent. Worse, they have put each in its own bucket and labeled them as rare, so the majority of the world feels they‘re not important to fix. Shouldn't this be viewed more at the pathway level than at the base-pair level? Pathways have redundancies, and medicine can address a pathway. Focusing on base-pairs seems like a race you can't win, unless we have the technology that can reliably fix single nucleotide mutations.

deleted 7y ago
[deleted]
DrAwdeOccarim 7y ago
That's the super exciting and interesting part of literally today. There are two new technologies that are about to combine that will probably get us to "reliably fix single nucleotide mutations." in a platform sense within the next 5 years. The first technology is the production and delivery of messenger RNA made synthetically, and the second is the fusion of the recognition portion of CRISPR with a class of enzymes known as base editors. Of course we'll have to start with the liver and with diseases that move the needle (i.e., not N of 1), but once the technology is approved in this case things get a lot more interesting for other genetic diseases that don't move the needle. Tim Yu developing the ASO for Mila is the perfect example of how once the technology is working for a money-making indication, less profitable treatments can follow. If you want to read more about this, check out Beam Therapeutics, Moderna Therapeutics, Intellia Therapeutics, CRISPR Therapeutics, Editas, STRAND Therapeutics, Translate.bio, BioNTech, Josh Rosenthal at Woods Hole, Feng Zheng at MIT/Broad, and David Liu at Harvard.

fjfaase 7y ago

My son too has a unique and disabling mutation. As far as I know, he is the only person with this mutation, but there are more people with a mutation in the same region of the gene, that are affected in the same way. The problem with some mutations like this, is that they have an effect on the development of the brain from the start of the development and that fixing the gene (or better its RNA transscription) will not undo that development. The results of IQ tests seems to indicate that with my sons mutation, there is a problem with the myelination in his brain. Myeliniation is a process that starts before birth and continues into adolescent. At the moment he is quite happy and functioning well within his limits. His 'academic' IQ is rather low, but in some areas, he surpases the average person by far. He has a great sense of humor and people like him. In his case, I am really afraid what would happen if we would administer him a drug that would compensate for the genetic defect. Would he go through another fase of brain development and having to cope with all kinds of changes. Could he end up being less happy, because it would remove his ignorance about certain things. For example, at the moment he has no desire for a romantic relationship, but getting such a desire and than still not being able to satisfy it, could make him very unhappy.

tapland 7y ago
I have one as well that is herideraty but no relatives have it (tested after finding out I had it). I think it's usually something like 1 in 400k people having a mutation of a specific gene.
- fjfaase 7y ago
  De novo mutations (DNM), that is new mutations, is rather high and increases stronly with the age of the father, because sperm cells are produced by continued cell divisions, where the egg cells of women are produced before birth. With the mother there is also a slight increase over time, but the number of even old mothers is lower than that of young fathers. Luckily, only a small part of the DNM occur in genes and some mutations are not even harmfull, due to how triplets of base pairs are decoded into amino-acids. And then there are also many mutations that do have an effect on the protein being produced, but that the difference does not have a great effect. For most genes there are many variants, which all leads to working proteins, some of which might work slightly better than others in some area and maybe (slightly) better in another area. (Just recently there was a news item about how humans lack a certain gene compared to other mamals, which increases our risk with respect to cardiovascular disease, but apparently also increases our ability to walk/run long distances.)

ailideex 7y ago

> I’m Open Sourcing My Baby to Save Her and Others Nope, that is not what you are doing.

rvz 7y ago
Exactly, I just read the title and it was very confusing for me to understand what the article was about. Sometimes when I see titles like this, it is better to just get to the point rather than confuse readers with these silly titles. Apart from that, it was a very good read.
- raxxorrax 7y ago
  True, but this is one of the cases where I don't mind clickbait as much. Getting attention should be the goal.
  - rat9988 7y ago
    I do mind it. If your cause is meaningful enough, you don't need to resort to click baity titles.
    - rndgermandude 7y ago
      You people discussing semantics and even "clickbait" in this context truly make me sad.
    - DoreenMichele 7y ago
      So, how would you suggest it be titled or framed? It's a new approach. There's a serious language issue here in that truly new things don't really have proper words or phrases for them yet. They need to be invented. That's usually done by initially borrowing on existing concepts that are as similar in some way as possible. This problem space also seems particularly thorny. Even people who have genetic disorders -- or who have a child with a genetic disorder -- may not understand some basics about how genetics works.
7y ago

mangatmodi 7y ago

So there is a cure, but it is not profitable and no body is doing it? Society has evolved so wrong, when we can't provide basic needs to everyone despite (probably) having enough for everyone. I wonder how many people are living a miserable lives, without knowing they can b e treated. Do I have to Ph.D in every medical science to make sure my kids get a treatment what they deserve?

carlmr 7y ago
>Society has evolved so wrong, when we can't provide basic needs to everyone despite (probably) having enough for everyone. I mean there are 3 people (as far as they know) with this specific mutation. Time, money, and capable scientists are limited. Allocating these resources efficiently means that the more rare disease don't get as much attention, but this also means that you're saving more people. Just not those with the rare conditions. From the article > The rare label is wrong and limits progress. These are not rare. These are genetic and have the same root cause. We need a systematic, platform-driven approach to fix these typos. We need a spell check. Yes, there are millions with some mutation. But changing around mutations needs to go through some form of medical process to see if it's safe. The current processes are there because historically there has been a lot of abuse for profit. We can't just platform allow any genetic editing. Some of these edits might be dangerous.
- mangatmodi 7y ago
  @carlmr, I understood the position better now. Maybe states should completely fund or control medical researches. This is one thing which should never be done for profit.
  - swebs 7y ago
    >For Lydia’s, there are only two others in the entire world — one in Greece and one in England Both countries with socialized medicine and yet they still didn't come up with a cure. It happened in one of the most, if not the most, capitalistic tech-hubs in the world. Maybe there's just something about the private sector that gets things done.

fevangelou 7y ago

If modern medicine was 10% open source, the world would be 110% a better place.

blueboo 7y ago

Something weird is going on with this lady...wasn't the campaign originally 1 or 1.5m? Now it's 2.5m for a vastly more ambitious goal? Kickstarter tawdriness is creeping into what was otherwise a gold-plated medical GoFundMe.

rohanseth 7y ago
This is our bad. When we had shared at Google, we thought the cost would be $2 million. We didn't include the money we had put in or received, so we shared our goal as $1.5million. Before sharing more publicly, we decided to update to the actual amount and had also learned that some costs would be higher than expected (toxicology package would be higher, clinical care wasn't going to be covered by insurance etc.). We had put a little note describing this in the FAQ, but I understand that no one reads those. For what it's worth, our goal from the very start was to openly share the process and logistics because we are truly convinced that this N-of-1 process can be repeated quite easily. Perhaps, at the very least we can squeeze the time for the next motivated parent to learn all this from 6 months to 1 months.

fareesh 7y ago

What does it mean to "silence" a mutation? If that particular gene is different compared to humans who don't have the same developmental condition, then is the medicine able to instruct the cells to replicate in a way that ignores the mutation and not carry the defect created by the mutation? Or does the medicine supplement the role of whatever that cell is supposed to do? (Assuming this affects some specific roles cells)

sjg007 7y ago
There are two alleles for this gene. You get one from your mom and one from your dad. In this case one allele has a mutation that is causative. So you inject some anti-sense RNA matched to that mutation, it will bind to the mRNA of the transcribed mutated gene DNA. Since it is now bound up, the mRNA cannot be translated by the ribosome and turned into protein. This means that only the other allele (without the mutation) is translated into protein.

ausbah 7y ago

This sounds like an absolute lifesaver for a bunch of people! I'm surprised more people in the comments aren't even a little more enthusiastic.

remeq 7y ago
Playing around with words like "open sourcing" is not a good idea in semantics-sensitive dev community. Not even what it comes to pretty little babies

dusted 7y ago

It is an excellent point, genetic mutations may have wildly different consequences, but they are all the same fundamental issue: genetic mutation.

acd10j 7y ago

I am in little dilemma about this , should we really aspire to suppress/treat every faulty genetic mutation however rare. One of the evolutionary natural balance we have is : unfit mutation does not gets passed around in form of further offspring. As carrier usually dies before child bearing age. If we suppress all of these faulty mutation and they in turn get passed along in their kids we may risk raising whole generation of pharma dependent generation.

dusted 7y ago

The article makes the excellent point that, although various genetic mutations have wildly different consequences, the root problem is the same: Genetic mutation. Sounds like there should be a generic fix somewhere.

twodave 7y ago
I mean, you'd have to have a reference genome basically, right? How do you even define such a thing...
shultays 7y ago
I am not a doctor but i would imagine most genetic problems would be too late to fix once you are born. And the one that are fixable would require you to fix syptoms rather than dna itself. So "a generic fix" is probably impoasible
- mikepurvis 7y ago
  It might be too late for today's babies, but if you could build a big enough catalog of mutations and suspected/confirmed ill effects, then you'd potentially be able to catch thousands of these mutations essentially at conception and supply a custom therapy right then and there to correct it before any brain development has begun at all.
  - lazyasciiart 7y ago
    Most people don’t even know when they conceive. A significant number of pregnancies end in miscarriage without the woman ever knowing. Lack of a catalog of issues is only the first obstacle to any kind of “correction at conception”.
  - adrianN 7y ago
    If you catch the problem at conception, the easiest way seems to be to abort and try again.
    - 7y ago

inmate4587 7y ago

Well.. it is an excellent idea.

elcomet 7y ago

"My haby"

alberto_ol 7y ago
the typo in the headline should be fixed

b_tterc_p 7y ago

The headline has changed for me to include a typo? “... sourcing my haby”?

ModernMech 7y ago
Only reason I clicked was to find out what a haby was.
- monkeydust 7y ago
  Likewise. Guess it worked then!

dlphn___xyz 7y ago

its crazy how people support medical experiments on a child but will call child protective services if you feed your child a vegetarian diet

amthewiz 7y ago
Who does that?
Xelbair 7y ago
One can lead to normal life for the child if the condition is severe. Not doing anything can hinder child's future, while medical experiment can save the child. Other has no positive benefits, while it can be dangerous to the child.
logiclogic 7y ago
I know many parents who feed their children a vegetarian diet without any health issues whatsoever. The cases I have read about in the newspapers were parents feeding their kids a vegan diet without a sufficient amount of calories and their kids literally starved from not getting enough energy to live. You can not live off eating only tomatoes and salad every day but you will be buff if you eat beans and lentils every day. Edit: A vegan diet requires more knowledge to get all the sufficient vitamins and these parents obviously fucked it badly.

acomjean 7y ago

There is a whole network of undiagnosed diseases. They’re getting better at replicating these mutations in model organisms which can help figure things out faster and less expensively. https://undiagnosed.hms.harvard.edu/ https://undiagnosed.hms.harvard.edu/

DoreenMichele 7y ago

For Lydia’s, there are only two others in the entire world — one in Greece and one in England. That we know of. There may be many more who were, say, born in a developing country and simply died without ever being identified as having this issue. I generally agree with the impetus here to find some way to generalize treatment for "orphan" diseases so that more people have some hope of effective treatment. I have no idea if this particular approach will yield any real benefits. Orphan disease: A disease that has not been adopted by the pharmaceutical industry because it provides little financial incentive for the private sector to make and market new medications to treat or prevent it. An orphan disease may be a rare disease (according to US criteria, a disease that affects fewer than 200,000 people) or a common disease that has been ignored (such as tuberculosis, cholera, typhoid, and malaria) because it is far more prevalent in developing countries than in the developed world. Source (I don't recommend actually clicking on it. It had at least two pop-ups.): https://www.medicinenet.com/script/main/art.asp?articlekey=11418 https://www.medicinenet.com/script/main/art.asp?articlekey=1...

deskamess 7y ago

Parental hurt is an altogether different kind of hurt. I have felt it in a few cases but 'life struggle' issues are likely on another level. I can empathize only to the limits of what I know and can only wonder how, and hope, they continue to stay strong.

kohanz 7y ago
This. My heart aches on a whole new level when I hear/read/experience children and parents going through such hard things. We've had very close friends lose children at a very young age and it's heartbreaking. I have nothing but sympathy for everyone involved and admiration for the strength of the parents. Few people are more motivated and capable than parents being told that a problem that affects their children cannot be solved.

ycombonator 7y ago

This is heartbreaking. Thank you for bringing the awareness. Hold that child tight.

JPLeRouzic 7y ago

Would not it be possible to create an open source project for a generic platform for antisense oligonucleotide therapies. I mean publishing the hardware for a high-performance liquid chromatography, possibly 3D printed and the controlling software? And the platform would produce the desired antisense oligonucleotides from an easy UI, like just describing the desired mutation, and the software would deal with the details?

rohittidke 7y ago

I am trying to donate from Germany but can't because of an error. Not a valid phone number. Any body faced the problem?

lettergram 7y ago

I’ve seen the title of this article change at least three times. I actually think the “saving Lydia: open sourcing by baby” may be the most descriptive.

vasilia 7y ago

Hope that will help Lydia to have a good long life and other people.

pi-squared 7y ago

I am truly sorry for your situation. I wish you all the best with being able to get the support needed, push science and open research forward and potentially save your child (and many more human beings) from this immense suffering. However... > Birth defects affect one in every 33 babies (about 3% of all babies) born in the United States each year. [1] Why do we keep having children? Every life comes with a death sentence and immense amount of suffering. This child will have more than average. Any rational or self-proclaimed rational human would quickly decide against these odds. Did you not know them? How do you decide to have children having this probability of impact (if people actually decide or we are just biological machines following our animalistic trend). Overpopulation is the same as obesity crisis - lack of control. But don't take it from me, here is why RMS won't have children [2] Apart from all that, having a child way, way overshadows any other effort on climate change [3]. Deciding not to have JUST ONE child and you will "deserve" multiple transatlantic travels, cars, eating meat, not recycling and more... If you can afford it and can controll yourself at all - stop having children. For the couple(s) that already crossed that treshold - again, all the best. For the couple(s) that haven't and know this information and then you suffer - it's on you. Flag me all you want because I wrote that in anger. But get the message around somehow. [1] https://www.cdc.gov/ncbddd/birthdefects/data.html https://www.cdc.gov/ncbddd/birthdefects/data.html [2] https://stallman.org/articles/children.html https://stallman.org/articles/children.html [3] https://iopscience.iop.org/article/10.1088/1748-9326/aa7541 https://iopscience.iop.org/article/10.1088/1748-9326/aa7541

deleted 7y ago
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hombre_fatal 7y ago
> If you can afford it and can controll yourself at all - stop having children. If you are smart, empathetic, and can raise a human who is curious and respects others, you should do it. The future depends on people like you and your offspring. If you can afford a child and are reading this forum, you are in a demographic among the most capable of raising children with the most access to knowledge, resources, and opportunity. You're barking up the wrong tree.

Causality1 7y ago

Excellent article. It's my belief the medical industry suffers from a "take no action" bias. They believe letting ten thousand people die from inaction is better than a treatment that will kill half of them and save the other half. When it comes to people who are going to die or suffer for the rest of their lives, I don't see anything wrong with "move fast and break things".

AtlasBarfed 7y ago

Genetics-specific treatment is what medicine should be working toward. Currently it is structured to make-pill-mint-money for drug companies. If a disease/treatment isn't mass produced, THEY DON'T CARE. Medical devices are a bit closer to what is needed, but fundamentally they are run by the same business models. Instead what will probably be required is a lot of specific testing (labor intensive), computational analysis (some labor and analysis) that produces the necessary treatment formula (or CRISPR design, etc), and then something that produces it. The margins won't be great, so no MBA-driven healthcare will care about that. The biggest disease that needs this approach to approach a "cure": CANCER. Cancer, even the "common" ones, are the result of dozens of varieties/combinations of gene malfunctions. First world nations should pool money to start a multinational infrastructure that includes continuous improvement. Sections of this can probably be make profitable, but those will probably be lots of small companies. All of which would be GREAT for employment.

dmix 7y ago
I don't see why you repeatedly accuse MBA people or the pharma scientists of not "caring" then proceed to explain multiple reasons why it's infeasible as a private business or even an academic or public organization. There's plenty of serious health issues constantly competing for a small pool of smart medical peoples attention and with a limited capital. Genetic tailoring still currently involves a high amount of specialist attention per individual and there is plenty of research and money going into it. I've heard multiple doctors tell me it's the future of medicine. Whether it could use more attention and capital is certainly a good question.
- AtlasBarfed 7y ago
  Because I've seen these organizations from the inside. The ripe profits going through drug and device companies, and the fact they can be profitable but not TOO profitable, mean they are full of huge executive structures of overpaid businessmen that stifle investment and certainly block any sort of political progress on American medical costs. I didn't say it was infeasible. It's infeasible in the current investment and oligarchical environment: these companies would be stamped out or blocked from competition. There is lots of opportunities for medium-sized companies to thrive, but the governmental aspects would help to kick start it. All medical treatment is a governmental partnership with private sector at a minimum, in all modern medical establishments. A fundamental change to how medical research and treatment is pursued would take regulatory changes as well as financial prompting by governments. Just let me emphasize: the MBAs that live in American drug and device executives are slime. The bastards that pushed the opioid crisis on America are just the same, they just push different drugs.

nellylucia431 7y ago

Yes the world is turning into different place this was never what anyone expect or pray for been HIV positive was never any wish, why do some people uses this mean in extracting money from other people. I was a victim of a doctor by name OGBODO, who uses the mean of curing different disease to extract money from people. After that I never give up all through they said that no cure for HIV/AIDS that the virus destroys the cell system. I went ahead searching in different way, I can across someone saying about doctor TAIYE have cured him from this virus that he lives in Africa, I checked he was on phone call but I diverted my attention from it because the same doctor OGBODO was from Africa too. But my heart keep bothering me I decided to confront him to my surprise all the test result shows negative that nothing has ever happened to his system, I was really short of words afraid for not to be fooled again but I encouraged myself and contact him at dr.taiye@gmail.com he responded and asked me to send my details just as the first OGBODO did I started doubting him, but I tell myself that I will not allow my past to destroy my future, I started focus. he get the cure prepared and tag with instructions to use for 14 days because it has stayed go in my system, I used the cure for 7 days my health was fit but my excreta was just as blood although. immediately I contacted the doctor he said I have nothing to worry about that it going to last for the rest 7 days although I was in pain but after the 14th day I went straight to my doctor and I was tested HIV negative, doctor Felix is still in shock now, he is now referring people to doctor TAIYE. Am free from this virus all because of my faith and heart consolation I never waited for anyone to advice me but my heart and me. I don’t know what you have been through but believe me nothing last forever. Doctor TAIYE is waiting for you today just to make that decision from this hard time. Contact him via email dr.taiye@gmail.com . Just because something or someone have failed you before don’t mean everyone is going fail you all time have a think of mind ‘’is there a problem without a solution?’’ Am NELLY LUCIA from Orlando and I was diagnose 2008 cured by doctor TAIYE 2019 contact me via mailing nellylucia431@hotmail.com or nellylucia431@gmail.com for any question

hkai 7y ago

With whole exome sequencing now at 500 USD, personally I will start by testing myself and my partner for hereditary diseases before having kids.