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A Spanish teen’s genome may hold the secret to lupus

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Re: A Spanish teen’s genome may hold the secret to lupus

#71

Post by aksss »

treeman79 wrote: post #58
JTbane wrote: post #54

Earlier quoted context omitted.

Sounds like a great place for hypochondriacs to hang out.

This is a very hateful stance.

Being critical is not being hateful. The fact is that a lot of online support groups get a weird mix of people - people who actually have the clinical diagnosis, people who feel they may be on the road to a diagnosis, people that want to imagine they would get the diagnosis, people who can't get the diagnosis but figure the system is aligned against them for whatever reason, friends/relatives of people with the diagnosis, etc. I always find it weird that some people "want" to have a chronic medical condition or be perceived as one who does - and I've met them. Hypochondriacs show up, that's a fact, Jack.

Re: A Spanish teen’s genome may hold the secret to lupus

#72

Post by sprucely »

dekhn wrote: post #65
sprucely wrote: post #29

Earlier quoted context omitted.

I wish I had your experience with Kaiser. I've hit that conflict of interest multiple times. Most recently, after going through triage and waiting six weeks for an appointment, and after half way through it with [specialist], I learn that they're actually not the specialist I thought I was getting and just performing triage. This person lacked even basic knowledge on the topic, and none of the classes or groups she c…

Kaiser doesn't have a "bottom line" to support. North and South Kaiser are two completely different orgs, but they both use the same EHR technology and can move records between them with no real friction.

They may not have a bottom line, but they certainly put up barriers to accessing specialty care that I never experienced when using the Sutter/Blue Shield combo. Also this wasn't a North Kaiser vs South Kaiser thing. More like Solano vs Yolo/Sacramento counties.

Re: A Spanish teen’s genome may hold the secret to lupus

#73

Post by Zenst »

thebeardisred wrote: post #53
karimmaassen wrote: post #31

Earlier quoted context omitted.

It's never lupus

Thanks to both you and @Zenst for making the joke I came to make. :)

Appologies, it was not my intent to make a joke, more to acertain how people became aware of the condition Lupus of which myself and it seems, many others awareness was born from that TV show.

Re: A Spanish teen’s genome may hold the secret to lupus

#74

Post by aksss »

skneko wrote: post #43

I work in a Spanish university (yes, I'm a filthy academic) and just the other day we were running experiments using a research tool in relation to this new variation of TRL7. This tool is a genomic variation database aggregator that tries to act as an "oracle" of the clinical significance of the variations by running an AI algorithm on the harvested data. Very cool stuff, in spite of my area not being directly relat…

Is this the SIFT and CADD systems referred to in the report:

"Bioinformatics analysis revealed a de novo, TLR7 p.Tyr264His (Y264H) missense variant that was predicted to be damaging by SIFT and CADD (Fig. 1a–c (family A) and Supplementary Table 2). This variant was not present in the databases of normal human genome variation (gnomAD, ExAC, dbSNP). Examination of the BAM files together with paternity analysis confirmed that the mutation occurred de novo (Extended Data Fig. 1a, b, d)."

I read that and thought that was pretty neat. CADD is Combined Annotation Dependent Depletion, and is "a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses." SIFT stands for Sorting Intolerant From Tolerant, and is "an algorithm that predicts the potential impact of amino acid substitutions on protein function."

Re: A Spanish teen’s genome may hold the secret to lupus

#75

Post by dekhn »

sprucely wrote: post #72
dekhn wrote: post #65

Earlier quoted context omitted.

Kaiser doesn't have a "bottom line" to support. North and South Kaiser are two completely different orgs, but they both use the same EHR technology and can move records between them with no real friction.

They may not have a bottom line, but they certainly put up barriers to accessing specialty care that I never experienced when using the Sutter/Blue Shield combo. Also this wasn't a North Kaiser vs South Kaiser thing. More like Solano vs Yolo/Sacramento counties.

Kaiser doesn't excel at specialty care, I will agree with that. There's more friction (and inter-regionally, which is not something I've had to deal with since I'm in the bay area which is the kaiser mothership).

Kaiser exists to maximize healthcare for reasonable costs across a wide range of people, and they do so by keeping general health high, but at the expense of specialty. In a city like SF, that means Kaiser will send you to UCSF for a transplant and pay a significant fraction. In Solano and Yolo/Sacramento there are far fewer specialists and even then I'd expect you to be referred to UCSF (when I worked there, there were constantly people visiting from all over the state for transplants).

Re: A Spanish teen’s genome may hold the secret to lupus

#76

Post by tetris11 »

skneko wrote: post #43

I work in a Spanish university (yes, I'm a filthy academic) and just the other day we were running experiments using a research tool in relation to this new variation of TRL7. This tool is a genomic variation database aggregator that tries to act as an "oracle" of the clinical significance of the variations by running an AI algorithm on the harvested data. Very cool stuff, in spite of my area not being directly relat…

I detest these oracles as the variant knowledge base they pull from is often a closed box proprietary product that pulls out variants associated with the disease but rarely find anything actually causative.

Re: A Spanish teen’s genome may hold the secret to lupus

#77

Post by insaider »

kilroy123 wrote: post #45
insaider wrote: post #21

Earlier quoted context omitted.

I've been struggling with the same sort of thing for 8 years now. I've been to dozens of doctors in several different countries but never got a proper diagnosis. From my own research and observations I'm quite confident it is, as you elude to, an auto-immune related disease. The two major triggers for me are exercise; particularly anaerobic e.g weightlifting, and alcohol. Alcohol actually alleviates the symptoms for…

I've been dealing with autoimmune issues for years as well. I have yet to find a doctor that is willing to help me get to the bottom of it. I too have seen doctors in multiple countries. For me, the trigger is carbohydrates. Doesn't make having a good social life easy. I'm on a forced ketogenic diet because of it.

Interesting, why do you think carbs are a trigger for you? I always have bad IBS symptoms when the other symptoms flare up but I haven't been able to find any foods that seem to directly correlate with it.

Re: A Spanish teen’s genome may hold the secret to lupus

#78

Post by kilroy123 »

insaider wrote: post #77
kilroy123 wrote: post #45

Earlier quoted context omitted.

I've been dealing with autoimmune issues for years as well. I have yet to find a doctor that is willing to help me get to the bottom of it. I too have seen doctors in multiple countries. For me, the trigger is carbohydrates. Doesn't make having a good social life easy. I'm on a forced ketogenic diet because of it.

Interesting, why do you think carbs are a trigger for you? I always have bad IBS symptoms when the other symptoms flare up but I haven't been able to find any foods that seem to directly correlate with it.

I don't think, I know. After a lot of trail and error it's a night and day difference.

Intermittent fast and eat very low carb – no stomach problems. Eat too many carbs more than ~25-35 – stomach problems.

Re: A Spanish teen’s genome may hold the secret to lupus

#79

Post by throwaway202022 »

FollowingTheDao wrote: post #61
kilroy123 wrote: post #45

Earlier quoted context omitted.

I've been dealing with autoimmune issues for years as well. I have yet to find a doctor that is willing to help me get to the bottom of it. I too have seen doctors in multiple countries. For me, the trigger is carbohydrates. Doesn't make having a good social life easy. I'm on a forced ketogenic diet because of it.

Yes, for me as well. I would say, if you are doing Keto, watch your Omega 3/6 balance. My brother did it for a year and focused on mainly red meats. He lost a bunch of weight but the inflammation from the Omega 6 is what probably caused his ankylosing spondylitis and triple bypass. I quickly became manic when I only eat red meat.

> the inflammation from the Omega 6 is what probably caused his ankylosing spondylitis and triple bypass.

How confident are you that this is the case? This is now the second story I've read of someone on a keto/carnivore diet having to get a triple bypass after eating too much red meat. Was his omega-3/omega-6 ratio really that much worse than that of the average person not on such a diet (not that that's a great standard to compare against, but the average person is also not getting triple bypass surgery)?

I know there's a lot of evidence against the notion that saturated fats cause CVD, and omega-6s and inflammation is a compelling case, but I'm worried we're missing something.

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