This is my thread and everything and I should know this, but how can you determine in your 23andme account what genechip you are on?
Help!!!!
Exome Scan has arrived! Help!!!
Re: Exome Scan has arrived! Help!!!
Through simple deduction, it looks like your loved one is on the V3 chip; since the V4 isn't reporting this snip. Let me add my thanks for all the work you've done on this- most especially for your very generous sharing.This is my thread and everything and I should know this, but how can you determine in your 23andme account what genechip you are on?
I, too, was stunned to see no mention of this snip in relation to AD on PubMed. I did find it was associated with childhood leukemia... Dr. Michael Greicius (Stanford) is working in several studies with older healthy E4s trying to identify protective alleles. I'll drop him a note about this one to see what he knows.
In the words of our Lillybritches, you threw this 4/4 broad a crumb...with a single "A." Thanks, my friend
Re: Exome Scan has arrived! Help!!!
I am slowly adjusting to this idea that I can post a message and people all over the world can put on a smile and have a great day. POWER!!
Yes, I think this is the power we need to make this a better world. I never remember life being like that before the internet.
It is especially gratifying to me because the members of this thread could reasonably described as high-maintenance patients. If I were the AD doctor to most of those on this forum, I would jump in my car, head for the airport and catch the next flight out of town when I saw any of you coming for an appointment. That I could contribute a crumb of information that was not already known by the well-informed members here is a great pleasure to me.
The eotaxin story seems to be even better than I first noted. The eotaxin seems to be connected through the research on parabiosis (connecting the blood supply of young mice to old mice). Eotaxin levels generally rise with age, though in the AD study noted above they found that those with a protective allele did not have increased eotaxin levels with age. It would seem that targeting eotaxin levels might be a therapeutic strategy (I believe there is or soon will be a blood transfusion study in AD that could confirm the eotaxin connection). If this is as simple as a blood transfusion, then everyone (of any genotype) could benefit from this research insight.
Yes, I think this is the power we need to make this a better world. I never remember life being like that before the internet.
It is especially gratifying to me because the members of this thread could reasonably described as high-maintenance patients. If I were the AD doctor to most of those on this forum, I would jump in my car, head for the airport and catch the next flight out of town when I saw any of you coming for an appointment. That I could contribute a crumb of information that was not already known by the well-informed members here is a great pleasure to me.
The eotaxin story seems to be even better than I first noted. The eotaxin seems to be connected through the research on parabiosis (connecting the blood supply of young mice to old mice). Eotaxin levels generally rise with age, though in the AD study noted above they found that those with a protective allele did not have increased eotaxin levels with age. It would seem that targeting eotaxin levels might be a therapeutic strategy (I believe there is or soon will be a blood transfusion study in AD that could confirm the eotaxin connection). If this is as simple as a blood transfusion, then everyone (of any genotype) could benefit from this research insight.
Re: Exome Scan has arrived! Help!!!
J11 - more than a crumb honey. This is a lot of great information. Thank you!
Re: Exome Scan has arrived! Help!!!
Might not be long before we know more about this:
https://clinicaltrials.gov/ct2/show/NCT ... 015&rank=1
https://clinicaltrials.gov/ct2/show/NCT ... 015&rank=1
-
Gilgamesh
- Contributor
- Posts: 1711
- Joined: Sat Oct 26, 2013 11:31 am
- Location: Northeast US mostly
- Contact:
Re: Exome Scan has arrived! Help!!!
I'm trying. I had a great retreat, though I missed my deadline, which was a bit depressing. But I soldier on.J11 wrote:Hello again G! I hope you are enjoying the nice summer weather (writing retreats are best done in the Winter).
Meanwhile, having looked into this rs1129844 business, I must say: thank you! Yes, you can post something and have a huge impact. I usually have the downer alleles, but this time I've got one A, which makes me happy. That was your doing!
GB
Re: Exome Scan has arrived! Help!!!
All the thank yous feel great!
Thank you everyone!
I can send out little "idea" presents anytime. The joy I feel in doing so must be similar to the joy that Santa feels on Christmas eve.
It is inexplicable: Generally, there is the bad news and the good news. After hearing the bad news, one can then expect some good news. With genetics it has all been bad news. The best one could hope for has been avoiding bad news. That is not good news! Good news is when you receive something positive.
Genetics researchers have searched high and low for all the bad news they can find. Much of the so called bad news in the GWASs have such minimal influence on risk at the individual level that researchers will even ignore many of the AD risk alleles.
Now it appears that a fairly large protective effect has been found and there is silence. Why resent good news? I start to wonder if the whole budget up to this point was devoted to finding bad news and now they are finally getting around to looking for good news.
It would, obviously, be wise to not become overly excited about this until further clarification and confirmation is received. However, the road ahead, if this were to be verified, seems clear: bring down eotaxin levels. This could be possibly done in people of any genotype. For those with the protective genotype, it is possible that even lower levels of eotaxin might be even more beneficial. Some of the more adventurous thread members might even inquire about having their exotaxin levels measured. There might be an entire gene set that determines these levels. Ideas related to eotaxin might even be incorporated into the thread's special project from California.
Alzheimer's really needs its own Framingham project. I am not sure why this has not been organized yet. Dementia is the disease of the 21st Century.
Merry Summer Everyone!
HO! HO! HO!
Thank you everyone!
I can send out little "idea" presents anytime. The joy I feel in doing so must be similar to the joy that Santa feels on Christmas eve.
It is inexplicable: Generally, there is the bad news and the good news. After hearing the bad news, one can then expect some good news. With genetics it has all been bad news. The best one could hope for has been avoiding bad news. That is not good news! Good news is when you receive something positive.
Genetics researchers have searched high and low for all the bad news they can find. Much of the so called bad news in the GWASs have such minimal influence on risk at the individual level that researchers will even ignore many of the AD risk alleles.
Now it appears that a fairly large protective effect has been found and there is silence. Why resent good news? I start to wonder if the whole budget up to this point was devoted to finding bad news and now they are finally getting around to looking for good news.
It would, obviously, be wise to not become overly excited about this until further clarification and confirmation is received. However, the road ahead, if this were to be verified, seems clear: bring down eotaxin levels. This could be possibly done in people of any genotype. For those with the protective genotype, it is possible that even lower levels of eotaxin might be even more beneficial. Some of the more adventurous thread members might even inquire about having their exotaxin levels measured. There might be an entire gene set that determines these levels. Ideas related to eotaxin might even be incorporated into the thread's special project from California.
Alzheimer's really needs its own Framingham project. I am not sure why this has not been organized yet. Dementia is the disease of the 21st Century.
Merry Summer Everyone!
HO! HO! HO!
Re: Exome Scan has arrived! Help!!!
They finally published the rs1129844 result. Looks big!
Why have the only been publishing bad news about AD?
They spent 100s of millions of dollars to find AD variants that contributed almost nothing to risk.
While significant results delaying age of onset by 10 years of AD were obtained with rs1129844 in a sample of not much more than 100 people!
http://www.nature.com/mp/journal/vaop/n ... 5131a.html
http://www.sciencedaily.com/releases/20 ... 140757.htm
Why have the only been publishing bad news about AD?
They spent 100s of millions of dollars to find AD variants that contributed almost nothing to risk.
While significant results delaying age of onset by 10 years of AD were obtained with rs1129844 in a sample of not much more than 100 people!
http://www.nature.com/mp/journal/vaop/n ... 5131a.html
http://www.sciencedaily.com/releases/20 ... 140757.htm
Re: Exome Scan has arrived! Help!!!
I read that paper last night. As usual, you were way ahead of it, J11. Thanks for all you do for the community
Re: Exome Scan has arrived! Help!!!
There are quite a few interesting things happening in genomics that those on the forum should be aware of.
A company called 10x Genomics has recently launched a toaster sized device that converts the typical genome sequencer read of 100 base pairs into a long read of perhaps 100s of kilobase pairs using an indexing technology. This would appear to be a game changing technology.
http://10xgenomics.com/
When we had our loved one's exome scanned, a draw back was that we did not wind up with a phased read out. It would make understanding how whatever disease variant has been inherited in our family so much easier with a phased exome. For example, if we could compare our loved one with her siblings, then we would be able to quickly narrow down the chromosomes of interest.
Another development is Complete Genomics' recent launch of a next generation sequencing platform to compete with Illumina. This is exciting news. Without competition Illumina would have probably been quite happy to sit on their monopoly and charge about $1000 for a genome. For many this price point is beyond their budget (especially as it might require a few rounds of sequencing to receive a clinical grade genome). With the emergence of new competition, it is now expected that Illumina will be moving down the price point on their technology during the next several months. The $1000 genome hasn't quite ignited the genomics rocket, though moving towards a $100 exome quite likely will.
On the horizon perhaps about a year or so out is the truly impressive nanopore technology. Nanopores could radicallly move down the price point for sequencing.
Genomics is becoming very exciting!
A company called 10x Genomics has recently launched a toaster sized device that converts the typical genome sequencer read of 100 base pairs into a long read of perhaps 100s of kilobase pairs using an indexing technology. This would appear to be a game changing technology.
http://10xgenomics.com/
When we had our loved one's exome scanned, a draw back was that we did not wind up with a phased read out. It would make understanding how whatever disease variant has been inherited in our family so much easier with a phased exome. For example, if we could compare our loved one with her siblings, then we would be able to quickly narrow down the chromosomes of interest.
Another development is Complete Genomics' recent launch of a next generation sequencing platform to compete with Illumina. This is exciting news. Without competition Illumina would have probably been quite happy to sit on their monopoly and charge about $1000 for a genome. For many this price point is beyond their budget (especially as it might require a few rounds of sequencing to receive a clinical grade genome). With the emergence of new competition, it is now expected that Illumina will be moving down the price point on their technology during the next several months. The $1000 genome hasn't quite ignited the genomics rocket, though moving towards a $100 exome quite likely will.
On the horizon perhaps about a year or so out is the truly impressive nanopore technology. Nanopores could radicallly move down the price point for sequencing.
Genomics is becoming very exciting!
