Genetic testing: a chance for us to mobilise research

[Syntheso]

This is an encouragement to have your genes tested. To familiarise yourself with the basics of genetics, you can watch this video playlist: 

The proposal is simple; get a sizeable amount of us to have our DNA tested and compare the results to see if we share any unusual mutations, compared to the population. Hopefully some patterns will emerge. Eventually, we hope this will lead to formal research.

Visual and I have recently had our genes tested by 23andMe. Visual is in the process of creating a simple program that will read a list of SNP's (single-nucleotide polymorphisms) we are interested in (those that are implicated in certain brain disorders, for example) and compare the variations of each participant for these SNPs. We have already tested a basic version of this program which does this in a simple form. There are some more complicated stats things that need to be accounted for before it is useful. Also, it needs to work in correspondence with a survey, as HPPD symptomatology varies vastly between individuals. 

What we need to make this program more useful is more results: more people with HPPD having their genes tested. This is where you come in. If you can afford it, please consider joining us. The cost is only $99 + shipping to have your DNA tested and takes a few minutes of your time (swabbing your mouth). Once done, the data can be useful for centuries. For the sake of continuity, and I think it is the best value for money, please go with 23andMe.

Irregardless of this initiative, it should hopefully be interesting for you to have your genes tested on a personal note.. looking at your ancestry, personality traits etc.

We can obviously not guarantee that this will lead to anything official or produce anything conclusive, but it will certainly give us the ability to compare our genes and it is a step in the right direction of understanding the pathology of this disorder.

Please let us know as soon as possible if you will be taking part. We hope to get at least 32 participants to make this statistically useful. 100 people would be great. Also, relatives/friends with similar/same drug experiences and do not have HPPD are also very useful.

Am sure Visual will chime in to explain things better than I can.

Thank you,

PS: Credit for this initiative goes to Visual. I am helping get the ball rolling and some footwork.

[brake]

Is there a deadline or like a preferred time to have the results compiled and compared?

[Syntheso]

There is no deadline (not now at least). The quicker we move, the quicker we can achieve something. I suppose there is no rush, considering how long some of us have had HPPD. But - the process is going to take some time anyway. The quicker, the better! It would be great to see some people jumping on this

[BigPapaChakra]

I think this is a fantastic idea. So please, anyone who has the time/money to partake in this and purchase a 23andMe kit, do so. You can also plug it into GeneticGenie and Prometheus to get a better idea of what you're predisposed to, your methylation pathways/capabilities, etc. and we can all compare our notes or plug them into Visual's program.

 

My test reached the lab really early this morning and it states that it may take a few weeks for the results to be posted, but they also said that it will take a few weeks to reach the lab and it took about 3 days, so I'm hopeful I'll have my results by the end of the week. 

 

I'd like to help out in any other way I could, too. 

[brake]

I`m definitely doing it but can`t this month.

[brake]

This is what they say on their website now: "23andMe provides ancestry-related genetic reports and uninterpreted raw genetic data. We no longer offer our health-related genetic reports." Would doing a genetics test with them still be useful?

[Syntheso]

This is what they say on their website now: "23andMe provides ancestry-related genetic reports and uninterpreted raw genetic data. We no longer offer our health-related genetic reports." Would doing a genetics test with them still be useful?

My interpretation of this is that they probably test the same SNP's (raw genetic data) but just do not have an interface that gives you health-related reports through their website. You would still be able to access such information through promethease. My guess is they probably removed it due to some legal concern, maybe the FDA had something to say. All we need is the raw genetic data; we are interpreting it ourselves. So, yes, it should be as useful. BPC will get his results soon to confirm.

[BigPapaChakra]

There were some articles on it - the FDA has been cracking down on these avenues for some odd reason, potentially because it would lead to a rapid revolution of the medical field and pave the way for truly "personalized medicine". Who knows. They just used to interpret everything and offer approximations of your risk of certain diseases and your resistance towards others, how you metabolize certain meds and compounds such as caffeine, etc. Interesting information, but nothing that we can't get ourselves with the help of GeneticGenie and Prometheus and collaborating with one another. 

 

Eagerly awaiting my results. It's been being sequenced at the lab for the past 3 or so days, so hopefully sometime this week I'll receive them.

[VisualDude]

This is what they say on their website now: "23andMe provides ancestry-related genetic reports and uninterpreted raw genetic data. We no longer offer our health-related genetic reports." Would doing a genetics test with them still be useful?

 

The value to doing the test remains the same.  The FDA is not saying that the testing results are not accurate.  It is concern about interpreting genetic data.  First, there is a huge amount of money to be made in the field, so there is pressure from big companies.  But more important is people making health decisions based on these tests.

 

The field of studying genes and health is a new field ... just the tip of the tip of an iceberg.  So care must be exercised when making medical decisions.  For example, some women who have tested as carrying the BRCA1 or BRCA2 "cancer" genes have elected to have their breasts cut off in order to prevent getting breast cancer.  While that is extreme, it is how some people react.

 

It is important to know that genes define weaknesses and strengths.  Rarely do they involve inevitability/predestination.  If a person has a 'good' math gene, they aren't 'doomed' to become a mathematician.  Neither are people without that gene 'stupid'.

 

Some of these gene services have a rating system of importance and 'good' vs 'bad'.  Often that is misleading and could very well have brought the ire of the FDA.  Who is to say being a math wiz is 'better' than being an 'artist'?  So ... money, fears, and prejudice are causing problems - as they always have.  However, you can bet if no money was involved, the FDA would evaporate.

 

 

The way genetic data is studied and thus eventually interpreted, is to get many samples (people) with a known disease/disorder and compare them to people who don't have the problem.  Eventually they find differences.  Sometimes it is clear but often it is hard because it may involve combinations of gene segments (SNPs).

 

While just a single sample, I was surprised that some key SNPs are indicative of my personal situation ... and two warrant taking levodopa (one is an established treatment) - a med that I require even beyond HPPD visuals.

 

To date, there is no record of anyone doing genetic studies for HPPD  [ please correct me if you can find any ].  So we can break the ice.  I further posit that no viable solutions will occur without genetic studies.

 

As the number of samples accumulate, then patterns will emerge.  Ironically, there is a measure of 'genetic testing' going on by our various medication trials.  Meds affect metabolic chemistry - as seen in metabolic pathway charts.  Genes variations define the efficiency (weak or strong) of each and every chemical process that occurs - which there are many thousands of.

 

 

At this stage, we are attempting to gather samples from HPPD members.  Without this data, the project cannot move forward.  So this stage will reveal how much interest HPPDers have in this type of study.  So ... keep them samples coming .

[Ghormeh Sabzi]

I was going to reply why genetic testing can be controversial but Visual has done all the hard work for me .... cheers!

 

I'll be sure to get myself tested in June. Well done for getting this started.

[VisualDude]

I was going to reply why genetic testing can be controversial but Visual has done all the hard work for me .... cheers!

 

I'll be sure to get myself tested in June. Well done for getting this started.

 

Thank you for your enthusiasm.  This isn't a quick, simple project.  Ironically it didn't even start as a project.  Synth and I independantly got testing and decided to share results.  Then thought this opportunity should be posted to the forum to see if there is interest and we can get more samples.

 

Questions and comments about genes and HPPD are welcomed and encouraged.  This is not a trivial topic, lol.

[Guest]

I'm in Viz.

You can expect my data ASAP

[Guest]

Need to know if there are any alternatives to 23 and me ...

http://www.scientificamerican.com/article/23andme-is-terrifying-but-not-for-reasons-fda/

[VisualDude]

Each company has its own agenda.  First is make money now.  Next is how to make more money.

 

Use a false name and don't bother with survey info.

 

Privacy has always been a concern.  In the 80's when AIDS became a concern, fear and discrimination came to the fore.  Now with social networking, potential employers have actually looked on Facebook, etc. and it's caused people to not get jobs ... even to lose jobs.  Note David's comment about problems now with trying to get medical employment with the reputation of HPPD.  One guy told me he used to work for Coors in Colorado but got fired because someone saw him drinking a different brand of beer.

 

So we do the best we can.  Either using made up names, like 'Visual' and 'Hope1', or avoid the internet altogether.  Since 9/11, all network traffic is logged for a while ... so even being a guest leaves a trail.

 

At some point you have to decide how much to fear humans and how much to interact with them.  As the old song goes, "Love hurts".

 

As for trusting 23andMe, FamilyDNA, or Ancestry.com ...  I'd rather not but don't know how else to get tested.  The official medical route would cost thousands and become part of my permanent medical record - attached with name, social security number, etc.

 

The saving grace for privacy is not being considered important.  Big Brother has to work to sift and analyze data (i.e. bother to look at us).  Big Brother Business is worse ... money, money, money.  But if your are broke, they won't care either, since there is nothing for them to fleece.  Identity theft has been a problem, again for money.  So even the mail box and garbage can might present a problem.  Its amazing how much personal info people will reveal yakking on a cell phone in a restaurant - drawing attention to themselves because of being inconsiderate to the 'dining expereance' of others.  Then you got folks sending naked pictures of themselves ... sometimes to the wrong email address, lol.

 

Many forums have been formed to collect info for researching a disorder for college credit or other reasons - not to help its members.

 

It is a depressing fact that people have to be careful.  So doing this test involves some 'risk' even as using the internet does or using a credit card instead of cash.

[hppd24years]

I think personally this will be useful and will help put the finger on understanding our gens in regards to how they work as well as how they function.. I'm first to admit this is all Greek to me, out side of my mental domain, but I'm more then willing, capable to learn, understand, my pathology and their functions.                                       I'm going to do 23andme as well so you can add me to the list.. This is a good start and will have significants either way for the way of the will to conquer this disorder or shine some light in the grey area that is needed. I strongly advise other peeps to participate in this so we can get a better understanding of hppd and maybe a solution..  I think it is well worth the 99 dollars and ur nucleus that contains 99.9% of ur genetic make up..   Hppd24longdamyearsdoing23andme.. 

[Syntheso]

Has anyone else thought about this or made some steps towards getting tested?

[hppd24years]

U have to mention Justin Bieber than u might get a response..

[jimmyb84]

Waste of time imo

[Syntheso]

U have to mention Justin Bieber than u might get a response..

 

 

Waste of time imo

Sorry you feel that way. What makes you say that?

[jimmyb84]

 

Sorry you feel that way. What makes you say that?

Sorry about the negative response guys, im not having the best of days.

I hope this study helps out in some way or another.

Apoligies

[Missjess]

I'd be interested to be in the study however I don't have $99 to get the test kit as I cannot work and am broke

The only other thing that concerns me is, seeing as many of us have gotten hppd from all different kinds of drugs which may alter different pathways in the brain etc not sure how we could all share similar mutations u know..

[Syntheso]

I'd be interested to be in the study however I don't have $99 to get the test kit as I cannot work and am broke

The only other thing that concerns me is, seeing as many of us have gotten hppd from all different kinds of drugs which may alter different pathways in the brain etc not sure how we could all share similar mutations u know..

 

This is why it is crucial to have a thorough survey alongside the DNA results. If there are patterns to do with genes, drugs and symptoms, we should be able to pick up on them.

[VisualDude]

Yes, there are probably multiple causes.  In general, when a chemical pathway is overloaded or compromised, it sets off a chain reaction - from not being able to make enough of a needed substance and/or from not being able to remove substances quickly ( intermediate metabolites).  Then the weakest links are damaged.  When slight, it repairs.  When severe, sometimes it can't repair completely.  Often, with both, you don't even know anything happened.

 

So typically you have two weaknesses: 1 the initial metabolic overload, then 2 damaged functions.  Our symptoms are the effects of #2 on brain systems, causing them to function weirdly.  And it take a lot of damage before we notice any symptoms.  That is part of why HPPD is so dynamic, often with symptoms getting worse for the initial weeks or months.

 

#1 is the primary reason from having HPPD.  #2 is the secondary reason.  There will not be one gene SNP responsible, there will be several in each category.

 

Finding #1 will help prevent further problems even from non drug related sources.

 

Finding #2 will help find ways to treat the damaged areas

 

Both will also potentially affect a persons health throughout their life regardless of HPPD from drugs.  That is why studying genes for preventing disease is such an exciting topic - but also a topic beyond this thread.

 

So, in summary, there will not be one answer.

 

 

This is an informal start.  Something we can do ourselves.  Over time, each individual may be able to learn important things from their genetic testing - a personal reward for the cost of the test.

 

By comparing these side by side, we may learn patterns (weaknesses) that HPPDers have.  It will depend most on getting sample data.

 

While I'm happy to donate time and effort to this project, I don't feel comfortable solicitating participation.  People need to feel happy about trying it.  And frankly, HPPD often brings anxiety, depression, and dampens hope.

 

But basically, if we can get enough samples to see some potential patterns, reporting this will be encouraging.  We can share this with other forums such those for Visual Snow and for DP.  Then more might participate and patterns will become clearer.

 

 

The other option is to just wait for governments, corporations, and charity to help us.  This will not passively happen - especially with most struggling financially.

 

To that effect, David is pursuing a new web site with the purpose of collecting money for research, lobbying, etc.  That is a very good thing.  It will also take time.  But it will formalize research which will ultimately need to be done.

 

 

A lot of good information has come from the work of one man, Dr Abraham.  While he has not worked entirely free (and how could he or most anyone), he's shown that HPPD has irregularities in brain waves (qEEG), that there are indications of genetic weakness being responsible for our problem, more recently reveled that for some, there is a low dopamine problem, and countless other papers regarding drug use.

 

Now this isn't to worship the guy.  But to give credit to what a man can do.  And to show that all efforts take time.

 

 

The more researchers working together yet on different parts, the quicker the results.  And likely there will be surprising things learned.  Whether we can contribute to this will depend on willingness to try, finding patterns, and then making these findings known.

[brake]

I will order the test kit in 2 to 3 weeks. Still debating on whether I should go with 23andme or ancestry.

[Missjess]

well I am interested in doing it then its just a matter of funds for me.