McMaster University Autism iPS Research Study

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!