Dr Karun Singh
This is a Guest Post by our reader AJ
McMaster University Autism iPS Research Study
First, a very big thank you to Peter for kindly offering to allow me to write this guest post.
It is with great excitement that I am announcing the launch of what I believe is one of the most promising research projects in autism today – McMaster University’s Autism iPS Research Study. In fact, I have been given the great privilege of helping McMaster University raise funds and awareness for this incredible endeavor. For those of you that aren’t familiar with McMaster University, it is Canada’s most research-intensive University, located in Hamilton, Ontario (just west of Toronto).
What is the McMaster University Autism iPS Research Study?
This research is being led by Dr. Karun Singh at McMaster University. You can learn more about Dr. Singh and his research at
https://sccri.mcmaster.ca/people/karun-singh.
The intent of this research is to study reprogrammed neurons from individuals with autism and gain key insights into the affected pathways that result in the various issues seen with ASD. Dr. Singh’s approach requires that the ASD child, and each parent, provide a blood sample and these blood samples are reprogrammed (for those of you familiar with iPS cells) into neurons. Dr. Singh studies the ASD child’s neurons, using the parental iPS neurons as controls.
To supplement the research, Dr. Singh also uses a tool called BioID. This tool uses biotinylation, or the process of attaching biotin to proteins and other macromolecules, to determine what the mutant version of an affected protein (assuming a causative mutation is known) is doing differently than the normal version of the same protein.
Once Dr. Singh has conducted his research into an ASD individual’s neurons and completed his BioID analyses, the next step in the project is to run a variety of selected compounds to screen for compounds that will address the underlying cellular mechanisms that are causing the condition.
In summary, Dr. Singh’s research at McMaster intends to:
i) Use BioID to elucidate what a mutant protein is doing differently than the normal protein (where a genetic mutation is known)
ii) Use iPS neurons via reprogramming to study ASD neurons (and the parental controls) to determine what is causing symptoms in that particular individual
iii) Once the above two are completed, select compounds for testing against the iPS neurons to see if any are able to address the underlying issue causing the condition
What Dr. Singh and McMaster need for this project to succeed
When I first spoke with Dr. Singh and understood what he intended to do, I was naturally very excited. This research can clearly make an enormous impact in moving the science ahead and helping our children get the treatment they need. But then I learned about the one thing that was preventing him from moving forward – funding. As some you may know, researchers often have challenges in obtaining funding for their research, even when working at great institutions and pursuing very worthwhile research.
Like many of you, as a proactive parent it struck me that this endeavor is so clearly worthwhile that I offered to both pursue funding for it and also raise awareness. Rather than waiting for government funding, I believed that affected families, individuals and organizations who understand the importance of this work would help fund it and allow it to move forward.
So, to each parent reading this, I’m asking for you to consider supporting this research in the following ways:
1. DONATE: McMaster University has a funding page for this specific endeavor at impacths.mcmaster.ca/autismips – kindly give as generously as you can as each dollar is spent specifically on this research. The great news is that McMaster is able to provide tax receipts for Canadian donors. If you are living outside Canada and are considering making a donation to McMaster University’s Autism iPS Research Fund, there may be more information you need. There are different giving options for international donors in the following countries: USA, United Kingdom, Hong Kong. If you reside in one of those countries, please do not give online, instead contact the fundraising team at impacths@mcmaster.ca to receive additional information.
If you’re outside of Canada, USA, United Kingdom, and Hong Kong, please donate online or by contacting impacths@mcmaster.ca
This project requires significant funding to move ahead, as the reprogramming of neurons alone can cost up to $12,000 CAD per individual. As the research requires that the child and both parents have their blood reprogrammed into neurons, we estimate that the total research costs could be roughly $50,000 CAD per genetic mutation studied in the lab.
If you are interested in supporting the research tied to a specific genetic mutation with research costs of $50,000 CAD, please contact Simone Moran directly (moransim@mcmaster.ca). Simone will make certain that your area of interest aligns with the academic priorities and help liaise with the research team if appropriate.
2. ADVOCATE: Become an advocate for this project. This is a very important ask. Kindly let everyone you know, especially those affected by ASD, about this research at McMaster University so that either they can donate, advocate, or participate in this research. Further, if you would like to pursue getting charitable donations from the company you work for, organizations you are familiar with (such as an ASD group focused on a particular gene, etc.), or individuals with the financial flexibility to make such donations, please do so. You can also share updates about Dr. Singh’s work such as this article: https://brighterworld.mcmaster.ca/articles/mcmaster-helps-provide-new-insight-on-gene-mutations-associated-with-autism/
3. PARTICIPATE: In addition to the need for funding, Dr. Singh’s lab is in need of more participants for this research. The McMaster team is interested in obtaining the necessary blood samples from a significant number of individuals affected by ASD. If your family would consider being part of the research, please contact Dr. Singh’s team by contacting Dr. Elyse Rosa at rosae@mcmaster.ca to determine if you qualify. It is important to remember that the details of each child’s specific case will need to be assessed by the research team to determine if they are consistent with the aims of this research.
*Please note that there is no link between donations and participation in this research. Both matters are handled by separate teams, in a confidential manner.
This research project is just starting, and funding is essential to continue to move it forward. That is why it is so important that we raise as much money as possible to allow Dr. Singh to apply BioID and iPS reprogramming to as many ASD children as possible. Again, please donate as much as you can, encourage others to give, and get the message out about this incredible opportunity.
From personal experience, I can tell the community that as impressive as Dr. Singh’s qualifications are, and as impressive as the resources at McMaster University are, that what has impressed me the most is Dr. Singh’s dedication to helping families with ASD. He truly wants to better understand the causes of this condition at a cellular level. As Dr. Singh’s team makes discoveries in this endeavor, they will be sharing their findings with researchers around the world for the benefit of all.
If we (with the help of each and every single one of you) can get Dr. Singh’s ambitious research fully funded, then the positive impact on ASD families will be enormous. I really believe in Dr. Singh and I know that with adequate funding, he will get us much closer to finding better treatments for our kids.
I hope everyone is as excited as I am about this endeavor and that each person who reads this post will do everything you can do help raise awareness and funds to make this project a big success. This is the right project, at the right time, with the right research team – please join me in doing everything you can to help Dr. Singh succeed!
From personal experience, I can tell the community that as impressive as Dr. Singh’s qualifications are, and as impressive as the resources at McMaster University are, that what has impressed me the most is Dr. Singh’s dedication to helping families with ASD. He truly wants to better understand the causes of this condition at a cellular level. As Dr. Singh’s team makes discoveries in this endeavor, they will be sharing their findings with researchers around the world for the benefit of all.
If we (with the help of each and every single one of you) can get Dr. Singh’s ambitious research fully funded, then the positive impact on ASD families will be enormous. I really believe in Dr. Singh and I know that with adequate funding, he will get us much closer to finding better treatments for our kids.
I hope everyone is as excited as I am about this endeavor and that each person who reads this post will do everything you can do help raise awareness and funds to make this project a big success. This is the right project, at the right time, with the right research team – please join me in doing everything you can to help Dr. Singh succeed!
Let me be the first to thank you for this AJ. I will most certainly join you in trying to spread the word.
ReplyDeleteAlso for anyone else here in Canada the Canadian Institutes of Health Research (CIHR) is looking for input to their next 5yr strategic plan (2020-2025):
https://letstalk-cihr.ca/letstalk
It does take some time to complete but the survey is open until Friday, June 28, 2019.
We can't complain about how they spend our money if we don't provide any input.
LG
Hi LG,
DeleteThank you for the kind words, and I really appreciate your helping to spread the word!
I'm so happy to be able to finally unveil this project, after 6 months of preparation to get to this point.
The fact that anyone reading this, from anywhere in the world, can support this project either via direct funding or by advocating for it, is truly amazing.
What really excites me is that above and beyond having individuals / groups / organizations donate generally, there is also the opportunity to fund research into a specific gene. For example, a group of parents (from anywhere in the world!) whose kids all have mutations in gene XYZ, can get together, contact McMaster to see if gene XYZ aligns with their research priorities, and if it does, they can go ahead as a group and fund this research effort (i.e. BioID + iPS + drug screen) specifically into gene XYZ.
I truly believe that the outcome of this project on any gene under study holds incredible promise, both in terms of our understanding of how a mutation in that gene affects neurons, and also in identifying compounds that may help treat the issue. Ideally, potential treatments that help in mutations in one gene will also help treat mutations in other genes (or people with ASD without a known genetic mutation), so findings in one gene could benefit many others.
Also, thanks very much for letting me know about the CIHR survey. I will definitely complete it - there are definitely some great opportunities that are being missed in funding great research.
Have a great day LG!
AJ
I am spreading among italian parents! Does this research sound similar to this? https://www.wired.com/2014/11/lab-grown-neurons-ips-autism-treatments/
ReplyDeletecarla marta
Hi Carla,
ReplyDeleteThank you so much!
Yes, the key concept of using iPS neurons is in fact very similar to the article you had provided. I absolutely believe that using iPS neurons to study what is going wrong with the neurons of an ASD patient is the single best way to both understand what is going on and to find treatments
A few of the differences I would note are:
1. In this article, which is from 2014, the cost to reprogram a single patient was $100,000 US. Now, this cost is at $12,000 Canadian, which would be roughly $9,000 US. In this project, Dr. Singh us also reprogramming the blood of the parents into neurons as controls.
2. Dr. Singh is also using BioID to help tease out what pathways may be affected by a mutation in a particular gene. This should also be very helpful.
3. Dr. Singh will be running the iPS neurons against a series of compounds (chosen based on what he finds in the BioID and iPS analyses).
To my way of thinking, there is no better opportunity in the world (as far as I'm aware) to significantly advance the understanding of how mutations in a particular gene affects ASD, and then also identifying potential treatments, than this project.
If parties in Italy (in conjunction with other parties around the world) are affected by mutations in a particular gene, in my opinion, there is no better opportunity than to connect with Simone at McMaster to (1) see if that gene fits into the researchers' priorities and (2) look to fund research into that specific gene. The results could really change the outcomes for most of not all children with mutations in that specific gene around the world.
If say, 10 parties all affected by gene XYZ decide to fund the research together, that's only $5,000 Canadian per party to potentially change the future of their children, and all children with mutations in that gene (not to mention identifying drugs that work for other genes as well). That's a quite reasonable amount given how much we ASD parents spend each year without necessarily seeing significant improvements.
Thanks again so much Carla, I genuinely appreciate your efforts. Only together, as dedicated parents, are we going to significantly improve not just our kids but many other kids with ASD.
AJ
the problem is : many parents and myself do not know if there is a mutated gene! for my daughter array CG was negative...some parents I know payed a lot for WES whole exome sequencing and then they were told: NO pathological mutations! carla marta
DeleteAJ's project is ideal for people whose child has a rare single gene autism, that is not well studied. The only way to know you have a single gene autism is via an expensive Whole Exome Screening test, or a simplified one. Only a minority of kids with autism have a single gene cause, but I think it will be more common in girls than boys.
DeleteAJ's project would be a good fit for our reader Ling. Via the existing network of parents interested in the SATB2 gene, they raise the money for McMaster to study their gene.
Hi Carla,
DeletePeter explained this perfectly - the researchers are really trying to understand what is going wrong with neurons where there is a known genetic cause.
I will add this as I think it's incredibly important - via the drug screen Dr. Singh will apply, he is looking to find compounds that will ameliorate the condition for each gene under study, and ideally with enough genes studied, there will be a handful of compounds that will turn out to be beneficial for a lot of patients.
My personal belief is that for many with ASD who had Whole Genome or Whole Exome testing without a relevant mutation being identified, the issue is still "genetic" but in the non-coding region which represents ~99% of the genome versus the protein coding genes. As we don't know much about the non-coding region, whole genome sequencing may not identify an issue as still don't understand the non-coding regions.
Check out this recent article:
https://medicalxpress.com/news/2019-05-artificial-intelligence-class-mutations-autism.html
All this to say, just because someone doesn't have a known genetic mutation doesn't mean this research won't eventually help them. Compounds identified via this research may still be beneficial to those with ASD with an unknown cause, but it will be trial and error in seeing which compound helps (if any).
Carla, please still advocate for this research to Italian parents, we really need get Dr. Singh's research funded for the benefit of all ASD families.
Thank you!
AJ
Is this study open to adults with autism?
ReplyDeleteHi Silverseas,
ReplyDeleteIs there a particular and specific genetic mutation involved?
If so, are you interested in checking to see:
a) if they are generally interested in that gene, without potentially funding that gene, or
b) if they are generally interested in that gene, with the potential for funding the research into that gene
I ask because there are two different pathways. If you're interested in potentially being involved (but no funding for that gene), then I would say that you should e-mail Dr. Elyse Rosa at rosae@mcmaster.ca and let her know about your specific situation, and the specific gene and the mutation within that gene. She will then determine if that gene aligns with their research priorities and will then let you know of any steps you would need to take.
If you're interested in potentially funding research into a particular gene, then you should e-mail Simone Moran directly at moransim@mcmaster.ca, and she will be able to determine if your gene (and situation) aligns with the researchers' priorities, and if so, then can work with you from there.
I hope this is helpful Silverseas!
AJ
Hi AJ,
ReplyDeleteThank you for your involvement in autism research for the benefit of many children affected. I was happy to contribute and will share your message in relevant communities.
Just would like to make sure, can families from Europe participate as well?
Best wishes
Agnieszka
Hi Agnieszka,
DeleteThank you so much! I (and I know the McMaster team) really appreciate it.
Yes, absolutely, families from anywhere in the world can participate.
With respect to donations, McMaster is able to provide a tax receipt for donors in the UK (and the US, Hong Kong, and of course Canada). This just means that outside Canada, the UK, the US, and Hong Kong, you can still donate but there would be no tax receipt to write that amount off on one's taxes.
So if families in France, Germany, Spain, Poland, etc want to be involved, absolutely they can. So if someone in Europe has a known genetic cause, and they want to be involved but are not able to donate funding towards their own gene, they should e-mail Dr. Elyse Rosa at rosae@mcmaster.ca to let her know about the gene and the mutation, and she will determine if that gene is relevant to their study. If they receive enough funding, they may then be interested in studying that child.
If a family or group of families with a known genetic mutation is interested in funding the study of that gene, they should e-mail Simone Moran at moransim@mcmaster.ca to see if that gene is consistent with the research team's priorities, and if it is, then Simone can work with that party.
Thank you so much again Agnieszka! I am so happy to be able to launch this project with McMaster as I truly believe it has the potential to truly change our understanding of ASD pathology and treatment.
Dr. Singh, who is truly a very kind and wonderful person, really wants to help make an impact on ASD families, and his lab at McMaster is really quite impressive.
Have a great day Agnieszka!
AJ
Hi Peter,
ReplyDeleteWhat is your opinion about Nemechek protocol for autism?
Thanks
SB
SB, that is a good question. The important thing to note is that some very serious parents do report a meaningful benefit from the combination of inulin, fish oil and olive oil.
DeleteThis is an inexpensive intervention with no doctor required and that makes it hugely appealing to parents. Add to that mentions of miracles and recoveries on the front cover of Nemechek’s book and you can see why it is so popular on social media.
Some parents respond a negative effect and most no effect whatsoever.
We should note that the research keeps showing that disturbed gut microbiota will affect brain function. Yet another study has been published, this time they inject fecal matter (poo) from kids with autism into the gut of mice and poo from typical kids into other mice. The first group of mice exhibit signs of autism.
https://www.sciencemag.org/news/2019/05/gut-bacteria-may-contribute-autism-symptoms-mouse-study-finds
The way Nemechek markets his ideas guarantees that mainstream medicine sees him as a charlatan. This does matter, because when a real medical doctor proposes a seemingly “crazy” idea to repurpose a safe old drug they may get grouped together with Nemechek.
Should you try a diet rich in fiber, healthy omega 3 and olive oil? Most definitely. Will it help your case of autism? I cannot say.
There are many diets out there that genuinely do help some people.
It does amaze me still that there is this category of “dietary autism”, where changing diet does have a major impact. It all depends what the underlying cause was of that person’s autism.
In my son’s case it is a bit different, he has always had an excellent diet, rich in a wide range of fruits and vegetables. He loves fish and eats very little junk food or processed food. We consume large amounts of olive oil in our kitchen, I guess more than one liter (2 US pints) a week. Monty has never had any GI issues. His case is not one of “dietary autism”.
Hi AJ!
ReplyDeleteThanks for your response to my question.
I was diagnosed with Aspergers as an adult---no genetic tests have been run by any doctors. I pursued a WGS via Dante Labs and am in process of analyzing my own genome with various tools I am finding online.
It is a steep learning curve in understanding what mutations I have and what mutations are known to be linked to autism.
Anyway, I appreciate your comments.
Cheers.
AJ - I guess everyone at McMaster knows all about this but:
ReplyDeletehttps://www.theglobeandmail.com/canada/article-ontario-couple-pledge-bulk-of-estate-to-hamilton-health-institutions/
"An Ontario couple who grew up in poverty during the Great Depression and became self-made millionaires have pledged to donate the bulk of their estate, totaling more than $100-million, to create a new health-research institute in Hamilton."
Also a quick question from a family here in Ottawa - would they have to go to McMaster for their child to participate?
LG
Hi LG,
ReplyDeleteI actually saw the same article and thought the same thing - I certainly hope that McMaster, and specifically Dr. Singh, will benefit from the very generous gift from the Juravinskis. I leave that to the funding team at McMaster who are really on top of such efforts.
I certainly do hope that in my efforts to raise awareness, that a wealthy family who understand the importance of this research does step up, and allows Dr. Singh to study as many genes as he can. I am certainly also working on getting corporate donations, and hope to get some traction there.
So, in terms of having to go to McMaster to participate, I'll speak for myself here, as the final word would be from the research team. Participation would simply involve providing a blood sample from the child and each parent, so that is the extent of it. Unlike a clinical trial where a patient has to be close to a centre for regular dosing and testing, all one needs to do to participate is to provide a blood sample.
Can a blood sample be provided from a distance? This is something that the research team would have to confirm. My guess is that it would be best to have it frozen immediately, so whether that can be done elsewhere and shipped to McMaster (while kept frozen) is something I don't know.
I will say this. Dr. Singh's lab is in a building that is adjacent and connected to a children's hospital, so I think the ideal situation would be that the blood is drawn at the children's hospital, and then provided to Dr. Singh's lab immediately. This way there is no risk involved in shipping. Since it's a one-time activity, if it was me, I would drive (or fly) from Ottawa to Hamilton to eliminate any risks.
If the family in Ottawa wants to potentially be involved, they should e-mail Dr. Elyse Rosa with information about the gene and the specific mutation within it.
If the family is interested in potentially funding research into that gene, they should e-mail Simone Moran and let Simone know about the gene and mutation. If it aligns with the researchers priorities, Simone will be able to guide them through the process.
I hope this is helpful LG!
AJ
Thanks AJ.
DeleteUnrelated but interesting - unfortunately behind paywall :
https://www.ncbi.nlm.nih.gov/pubmed/31027873
"A dose of 30 g/day of kMCT taken for 6 months bypasses a significant part of the brain glucose deficit and improves several cognitive outcomes in mild cognitive impairment(MCI)."
LG
Came across this photo essay about the recent American Psychiatric Association meeting which is mainly funny but also a bit disturbing:
ReplyDeletehttps://slatestarcodex.com/2019/05/22/the-apa-meeting-a-photo-essay/
"15,000 psychiatrists in one building sparks a drug company feeding frenzy that makes piranhas look sedate by comparison"
AJ,
ReplyDeleteThank you for this exciting guest post and great great initiative! I will surely share it to whomever I think may be a good target for either donations or participation.
I am definitely thinking hard about this opportunity.
Best,
/Ling
Hi Ling,
DeleteThank you for the kinds words! It has taken a lot of work over the last 6 months, and I'm just really excited to be able to finally share this opportunity with parents around the world.
The reason I've been involved is that I genuinely believe that this is one of the best opportunities to advance the science and treatment for ASD anywhere (especially where there is known genetic mutation), and I couldn't let this research sit waiting for government funding.
iPS technology can tell us so much, and to have it used by such an incredible researcher and team, and at a great institution like McMaster, is a once in a lifetime opportunity.
To any parent reading this, I would say this: Having your child's mutant gene (assuming it;'s known) studied via iPS is, in my honest opinion, THE best way to gain a better understanding of what is going on in their neurons.
Ling, I had been dying to tell you specifically about this project, knowing your daughter has a known mutation. If you do know of other SATB2 families, I would at least connect with McMaster as a group to see if they are interested in studying SATB2. If they are, and you can split the costs amongst several families (making it more affordable), then I'm very confident it will significantly improve both the knowledge about the impact of the gene as well as what compounds would help ameliorate the issues seen.
If you haven't read the following paper, I would highly recommend it. Dr. Singh is one of the authors, and you can get a sense of the kind of work that would be done in the current project, from this one (although the current project also includes BioID and the drug screen, should offer even more):
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372285/
If you do go ahead and pursue funding for SATB2 with other SATB2 families, please do let me know as I would be very excited for you. If there is anything I can do to assist, please let me know.
Have a wonderful day Ling!
AJ
AJ
ReplyDeleteCould you explain me one more thing before I share your information further? I know a couple of parents whose children are diagnosed with autism and mutations in the same gene as my son. However, these are all different mutations. In fact ours has not been reported before. If so, does it make sense to contact the McMaster researchers as group - with the same gene affected - or it's the mutation type what matters? I guess the latter, just want to make sure.
Thanks.
Hi Agnieszka,
DeleteHope all is well.
Agnieszka, if the intent is to potentially participate (once there is enough funding), I would e-mail Dr. Elyse Rosa with information about all 3 families, allowing her and the research team to look into the gene and all three mutations at the same time. Assuming the gene aligns with their priorities (i.e. it's a gene they would be interested in researching), they would then determine which one(s) they would pursue with enough funding.
If the intent is to fund the study of mutations in that gene (and you're in a great situation for that since there are 3 families with mutations in that gene, splitting the cost to ~$16,600 CAD per family), then I would recommend e-mailing Simone Moran with information about the 3 mutations in that gene so that she can (I) determine if that gene is aligns with the researchers interests and (II) guide the families through the process.
Peter makes a very important point about the impact of various mutations in the same gene, and this will be important to work out with the research team (depending on what is known about the gene and mutations in that gene). This is why, whether pursuing the participation or funding route, I would recommend reaching out to McMaster as a group.
I will reiterate that the best scenario, in my honest opinion, is when multiple families are dealing with the same gene, as they then have the opportunity to split the cost of funding while everyone benefits significantly from the findings.
This is a great team, led by an outstanding researcher, and the opportunity to have them focus on a gene of interest has the potential to very positively impact the understanding and treatment of people affected by that gene.
Please keep us posted on how you proceed and progress on this - I genuinely hope for great things for you and your family, and the other families affected by the same gene.
AJ
Agnieszka, I will also be interested to know their answer, because hopefully they consider the specific mutation in the specific gene. If they are very clever maybe they can split mutations into increasing/decreasing expression of that gene.
ReplyDeleteHere is an example of why.
SCN2A is responsible for making a protein called NaV1.2 in the brain. NaV1.2 determines the electrical properties of neurons and their ability to communicate with each other, especially during early brain development. Mutations in SCN2A that cause a reduction in NaV1.2 activity lead to ASD, whereas mutations that cause increased activity of NaV1.2 lead to epilepsy.
So for SCN2A you need two different (opposite) therapies.
Hi Peter,
DeleteThat is a great point, and given the team, I would expect that they would take into consideration that different mutations in the same gene could lead to different outcomes.
I will certainly ask Dr. Singh about their process of identifying which mutation (out of a number of mutations in the same gene) they will choose to study.
Have a great day Peter!
AJ
AJ, the thing to mention to Dr Singh is that for each gene there are really only 3 possible outcome. Increase in gene expression, reduction in gene expression and no change in gene expression. So for each gene there are just 2 cases to study. Several mutations very likely can be grouped together since they have the same effect.
DeleteWe should note that some mutations are of no consequence whatsoever.
Question for Petra:
ReplyDeleteAre you using fluvoxamine for your son to “right the ship” or to “steady the ship”? Curious because if there is clear benefit for an SSRI why is it that people want stop them (even if side effects are mild - and assuming people supplement to off set any nutrient depletion from the drug)?
I am now diving in to this sigma 1 receptor agonism info. Reading this, many boxes are ticked for both my sons, as well as family history:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785038/#!po=37.3684
Thanks so much for sharing, and thanks to Aspie, where ever he is now :)
^forgot to signoff on post to petra ~Tanya
ReplyDeleteTanya, first we had some kind of persistent vasomotor rhinitis, then strep throat, augmentin for 10 days to fight the infection and after a short while severe OCD. Doctor said first line treatment for OCD is fluvoxamine, in Greece brand name Dumyrox, in USA I think Luvox. He also said we should wait for 15 days and if there was no improvement we would change to escitalopram. We noticed rapid response in cognition and depression. Stereotypy and anxiety is still here but ocd can be handled more easily. He very much improved in social functioning, anhedonia, and regained his cognitive profile to go ahead.
ReplyDeleteAll drugs have side effects but if the benefits are greater than the risks you just have to give. Some people on SSRI's say that they become emotionless, can't have empathy, this doesn't seem to happen to him for the time being.
Thank you very much for the link, very dense and difficult for me to understand but I got the basics.
Petra
Peter, your thoughts? I just thought it was all about the liver enzymes.
ReplyDeletehttps://news.yale.edu/2019/06/03/gut-check-yale-researchers-describe-role-bacteria-drug-response
~Tanya
Tanya, it has been known for some time that some people do not respond to certain drugs because of their gut bacteria. I think this happened with some very expensive drugs and then they took the time to figure out why some people responded and others did not, they found gut bacteria to be the answer.
DeleteManipulating gut bacteria is going to be a major field of medicine in the next 50 years.
In one post I mentioned a researcher who is developing a yoghurt to prevent childhood leukemia.
I didn’t know - guess I wasn’t thinking that through enough to research it. Also, I should add no doctor, including DANs, ever said well perhaps the reason he isn’t responding to this drug is due to his gut bacteria not metabolizing it. I just heard “leaky gut” and only researched liver info. Never thought it through beyond that. It is so fascinating. Gut issues were the first sign of my son’s type of autism. I wonder if this has something to do with why his lithium levels tested lower (out of therapeutic range) with his last blood work. He is on a lower dose of rx lithium and is doing well. I wonder if his levels fluctuate seasonally when his immunity is challeneged by allergies - makes his gut sensitive, and not using the lithium dose efficiently? Hmmmm anyone who reads this blog who uses lithium, i would love to compare notes.
Delete~Tanya
Hi Peter,
ReplyDeleteI am doing the nemechek protocol for my son.I have ordered Clemestine from a pharmacy in Litvia from ebay.
Do you recommend starting both together or one at a time?
My son does not show outward signs of allergy .Is it possible to have allergy without watery eyes or runny nose?
My son's doctor has ordered blood tests and his vitamin d level is very low.Not sure if it has any relationship with autism.The appt is on 16th July.I will know then.
Thanks for your help
SB
SB, there is a suggested link between vitamin D and autism. This is a very important vitamin with numerous functions, so it is important to raise it to the normal range.
DeleteI would first draw your conclusions on Nemechek and then make your clemastine trial. You do not need any allergy to benefit from the pro-myelin effect and microglia effect of Clemastine. It really is a coincidence that this is an allergy drug.
Hi
ReplyDeleteMy 6 year old son has a rare genetic disorder ASH1L and it's de novo and pathogenic. He was diagnosed with autism in January 2017. Would he be considered for this study? I would like to participate in it. We live in Toronto.
Also, is it mandatory to have already have done WES in order to participate or just a diagnosis of autism would suffice?
Thank you.
Mukti
Mukti, I am sure AJ, who wrote this post will answer your question. I just wanted to point out that a great deal is known about ASH1L.
Deletehttps://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L
There is even a case history of a Japanese boy with the same affected gene. In that case one issue was severely delayed myelination, which could actually be treatable.
This gene converges on chromatin remodeling and this is the target of much cancer research, including with HDAC inhibitors like Valproic Acid, widely used to treat children with epilepsy.
Hi Mukti,
DeleteHope all is well!
Mukti, your first step would be to contact Dr. Elyse Rosa at McMaster using the e-mail rosae@mcmaster.ca , let her know about the specific mutation, and she will determine with Dr. Singh if this is a gene they are interested in studying.
If so, then the challenge becomes funding. If you are interested in funding the research, then contact Simone Moran at moransim@mcmaster.ca as she manages the funding aspect.
I actually live just west of Toronto and have gotten to know the team at McMaster, and I can tell you that they are second to none. If they are interested in studying your child's gene, each parent and the child will have to provide blood samples, then it takes about 6 months to turn the blood into neurons, and then you're probably looking at another 6 months or so of research, so the process will probably take about a year from start to finish.
Best of luck Mukti!
AJ