47 – An Introduction to Autism BrainNet

An Introduction to Autism BrainNet

I have the pleasure to introduce today’s speakers, Dr. David Amaral and Carolyn Hare.

Dr. Amaral is the scientific director of Autism BrainNet and the MIND Institute Autism Center of Excellence. He is a professor of psychiatry at UC Davis School of Medicine and he is engaged in interdisciplinary research into the causes and treatment of autism and related neurodevelopmental disorders. He is a nationally and internationally renowned authority in autism.

Carolyn Hare is Clinical Director for Autism BrainNet. She began her career in special education and eventually took a turn toward autism research. She is a certified tissue bank specialist and works directly with donor families.

Webinar Overview

Dr. David Amaral is the scientific director of Autism BrainNet and researches the causes and treatment of autism spectrum disorder (ASD) at the UC Davis School of Medicine. Dr. Amaral leads this webinar with Carolyn Komich Hare, the clinical director for Autism BrainNet. They start the webinar with Autism BrainNet’s mission; their goal is to build an essential resource for research into the causes of autism and related neurodevelopmental conditions and help to identify new, effective treatments. Next, they talk about why brain tissue donations are important as the brain is the primary organ affected by neurodevelopmental conditions. Since 2014, there have been around 252 brain tissue donations, and that number is growing. Autism BrainNet enables researchers from all over the world to apply for brain tissue at no cost, with the hope of fostering innovative ASD research. This resource has already allowed scientists to examine anxiety levels in patients with autism by studying the neurons in the amygdala of patients with and without ASD. Dr. Amaral and Hare close by talking about the donation process which includes the use of a 24 hour hotline and a Donor Family Aftercare Program. Not only is supporting ASD research important to Autism BrainNet, but supporting and following-up with the families is also a critical part of their project.

Other Relevant Publications by Dr. Amaral

Altered Development of Amygdala-Connected Brain Regions in Males and Females with Autism

Association of Amygdala Development With Different Forms of Anxiety in Autism Spectrum Disorder

Identifying autism symptom severity trajectories across childhood

Other Relevant Publications by Carolyn Komich Hare

Contribution of olivofloccular circuitry developmental defects to atypical gaze in autism

0:08hello everyone everyone and welcome to today’s  webinar my name is Olga vodi and i’m a syngap   parent and part of the syngap research fund team  our talk or discussion today is an introduction  

THIS IS FOR TRANSCRIPT ONLY:

0:19to autism brain net and i have the pleasure to  introduce today’s speakers dr david omerol and  

0:24carolyn hare dr amaral is the scientific director  of autism brain net and the mind institute autism  

0:31center of excellence he is a professor of  psychiatry at UC Davis school of medicine and  

0:37he is engaged in interdisciplinary research into  the causes and treatment of autism and related  

0:44neurodevelopmental disorders he is a nationally  and internationally renowned authority in autism  

0:50carolyn harris clinical director for autism brain  net she began her career in special education and  

0:57eventually move toward autism research she is  a certified tissue bank specialist and works  

1:03directly with donor families by the end of this  presentation you’ll have the opportunity to get  

1:09the answer to your questions we’d love to hear  from you please write your questions in the q   a below for those of you just joining us welcome  and again our speakers are dr david omerol  

1:21and carolyn hare and their talk is an introduction  to autism brain net it’s now my pleasure to turn  

1:28things over to dr omral thank you thank you  olga share my screen so we can get started

1:39does everybody see that okay good thanks carolyn  um well thank you old gun thank you uh syngat  

1:46research foundation a fund for allowing us to  give you an introduction to autism brain net  Overview

1:55here’s the an overview of  what we’d like to do today   first of all talk a little bit  about what is autism brain net  

2:04i will try and give you some hints about the  importance of brain tissue donation for carrying  

2:11out research and neurodevelopmental disorders i’m  going to use one example of work that we’ve done  

2:18here at the mind institute to show you some of  the benefits of studying brain tissue and i’m  

2:25going to use the example of studying anxiety and  autism and then i’ll hand off the presentation  

2:33to carolyn who will walk you through the  donation process as well as the donor family  

2:40aftercare program which she has established  and then we’ll end and we’ll open it up to uh  

2:46questions and answer and we’ll hopefully try and  answer your questions to the best of our ability  What is Autism BrainNet

2:53so what is autism brain net well autism brain  networks with researchers and communities  

2:59affected by autism and other neurodevelopmental  conditions to develop a sensitive and effective  

3:04strategy for acquiring post-mortem brain  tissue we realize that some of the fundamental  

3:13breakthroughs in understanding neurological  disorders like alzheimer’s disease or parkinson’s  

3:19disease has come from analysis of postmodern brain  tissue in fact for alzheimer’s disease most of the  

3:28therapies that are being researched now  and even attempted are based on studies of  

3:34postmodern brains from people that had alzheimer’s  disease and we realized um first and foremost that  

3:44autism and and related neurodevelopmental  disorders do not have a long history of study  

3:49of postmodern brains like alzheimer’s so in fact  the first studies uh were only done in the 1980s  

3:56which is relatively recently and part of the  problem uh for research in autism is that  

4:04there had was not an established resource of  postmodern brains that could be distributed  

4:11to researchers around the world who would  have the tools to evaluate them and so in 2013  

4:22we generated a proposal that we sent to the autism  the Simon’s foundation autism research initiative  

4:33and also Autism Speaks who initially was one  of the funders for autism brain death and they  

4:39decided that this was a worthy cause and that it  was something that they were willing to support  

4:45so we were formally launched in 2014 with the goal  of building an essential resource for research  

4:53uh causes of autism related neurodevelopmental  conditions and i what i want to emphasize is that  

5:01even though we’re looking at the the brains  postmodern brains of departed people who had  

5:07autism and their developmental disorders during  life our goal is to find targets for better  

5:14interventions and treatments for those living  with these disorders so really is looking towards  

5:22finding targets for more beneficial treatment in   the future for those who are with us this  is a collaborative project we have three  Collaboration

5:35collection sites around the country so we have  one here at the uc davis mind institute based  

5:42in sacramento california we have a second one in  boston at the beth israel deaconess medical center  

5:50and then we have a third at ut southwestern in  dallas texas in addition to these three collection  

5:59sites we have international partners in canada  we have the douglas bell Canada brain bank  

6:07and we also have a partner in the United  Kingdom at Oxford University that can acquire  

6:14donations from Europe from the UK and from Europe  and i want to emphasize that regardless of where a  

6:22donation goes to any of these collection  sites we consider it one resource and  

6:29when an investigator is approved for receiving  tissue tissue can come from any of these these  

6:38collection sites so we work really as a unified  collaborative network to collect postmortem brains  Team

6:48you hear that the some of the team we the team  is actually much much much larger because at  

6:53each of the collection sites there are staff that  are involved in making sure that the brains are  

7:00collected properly that they are processed  and stored properly and that they are safely  

7:06stored for future distribution but you can  see for example within the simons foundation  

7:13the managing director is dr marta benedetti you  see carolyn but she has a colleague nicole coleman  

7:20who is working on the clinical assessment  of donors and then there are lillium who’s  

7:29with us today and and cece are  both our outreach coordinators   and then we have both of the informatics  enterprise as as well as we have a wonderful  

7:41manager of the entire program and david  layton who keeps it all functioning properly  Donations

7:47so since 2014 we’ve had about 252 donations  which is actually a very substantial number  

7:56it’s now the largest resource for autism research  in the world we’ve had 113 autism donations  

8:06and we’ve had additional donations the big  blue uh area here are control donations of  

8:14course when uh you try and understand what  may be altered in a brain with autism or  

8:20other neurodevelopmental disorder you need to  compare it with the brain of a non-autistic  

8:26individual to see the differences so we make every  effort to also recruit appropriate uh control  

8:35uh we call them control brains or comparison  brains and we have a number of other brains i  

8:42won’t go into the details here but it’s important  for you to know uh in terms of syngap that  

8:49safari has made the commitment to collecting  donations from individuals who have genes  

8:58that are implicated in autism but even if the  donor who had a a variant of a gene implicated  

9:07in autism did not have a diagnosis of autism then  we also can collect that donation as well and  

9:15there is some interest of course scientifically in  trying to figure out why do some individuals for  

9:22example with Syngap have autism and others don’t  we don’t really understand that at the moment and  

9:29only by comparing those with and without the  diagnosis can we come to that understandingWhy Brain Tissue

9:37so why is brain tissue donation important?  well the brain of course is the primary  

9:43organ affected in neurodevelopmental conditions  including autism and um we we think by studying  

9:51the brain that we will be able to develop  either biomarkers or therapeutic targets  

9:57and as i mentioned earlier um brain tissue  has contributed to understanding other  

10:03neurological conditions such as alzheimer’s and  parkinson’s disease and we have every expectation  

10:09that by studying the brains of those with  neurodevelopmental disorders we also get insights  

10:16that will lead to new and innovative targeted  treatments so you can you can um study the brain  

10:25uh in a variety of different ways and we take  a lot of effort in order to try when a donation  

10:34comes to us to process the brain so that  it can be used in as many possible ways  

10:41as as many ways possible by a diverse set of  researchers so for example you can look at the  

10:47neurons or the the cells of the brain you can look  in for a neuropathology we can look for biomarkers  

10:56in in the brain that might be indicative of a  disorder there are many many people that are  

11:04utilizing the autism brain that resource to look  for genetic alterations and here it’s interesting  

11:11that you would think well why do i need the brain  why can’t i just take a blood sample well it turns  

11:17out that there are different genetic alterations  in different parts of the body um they this is  

11:25something that is relatively recently discovered  but there are somatic mutations that are different  

11:33so different cells of the body can actually  have different modifications of DNA  

11:38and recent research using postmodern brains have  actually shown that even different parts of the  

11:44brain might have different genetic alterations  and so it’s important to to note that if you only  

11:53look at the blood you might actually be missing  some of the really important genetic alterations  

11:59that cause some of these disorders that we’re  interested in and of course the brain is a place  

12:05that is affected by the environment so there are  other modifications of how the brain functions uh  

12:14called epigenetic modifications that can actually  be related to environmental contaminants or all  

12:20kinds of other things and this is a whole nother  area of research that that is going on nowadays  

12:27that relies on post-mortem brain tissue i want to  make the point too at this at this time that we  

12:37with the resource that we have  with the brains that have come in   we have an application process and researchers  from all over the world can apply for tissue from  

12:51autism brain debt and if the application is  approved we can distribute tissue to them  

12:59there is no cost to the researchers for this  tissue it really is a resource provided by  

13:06safari to foster innovative and and uh and  do research into neurodevelopmental disorders  Anxiety in Autism

13:15i wanted to give you just one example of how  things come together around post-mortem research

13:26I’ve been particularly interested in the issue  of anxiety in autism turns out we’ve known even  

13:33when from the early days when autism was  defined that anxiety is an important component  

13:39but we really haven’t totally classified and or  diagnosed anxiety particularly in individuals  

13:46who have intellectual disability this has been  a big gap for for many many years so we worked  

13:53with conor kearns who’s an expert in diagnosing  anxiety in autism and carried out a paper that  

14:01carried out a research program that we  published a couple of years back in 2019  

14:06and what Connor and our team found was that in  our in and i won’t go into too much detail but  Anxiety in Children

14:14these are 11 year old children that we’ve  been studying since they were two in our  

14:19program of research at the mind institute what  we found was in the typically developing children  

14:24the non-autistic children about eight percent of  them had signs of of anxiety but there were 69 of  

14:33the children with Autism Spectrum Disorder  who had a an anxiety disorder so a massive  

14:39increase and the question is why what’s going on  with them and we focused on a part of the brain  The amygdala

14:46called the amygdala it’s this outlined area here  it’s a part of the brain that we’ve known for a  

14:54long time is responsible for detecting danger  signals in the environment so in this little  

15:00cartoon for example when this brain sees the  snake there’s visual information that comes in it  

15:07ultimately gets to the amygdala and the amygdala  is the thing that makes you frightened and and  

15:12start your heart beating and your you  know you start your skin sweating and  

15:17and hopefully allows you to escape the snake  well we’ve been studying the amygdala in autism  

15:24using MRI for quite some time and we found in  this diagram here it shows you that the size of  

15:33the amygdala this is the age of people that we  have carried out magnetic resonance images of  

15:42and what you can see is there’s a typical growth  curve of the amygdala interestingly the amygdala  

15:48is one of the only parts of the brain that  continues growing for a long time into adolescence   and adulthood and this is the growth curve for  typically developing individuals and what we find  

15:59with our population of kids with autism uh is that  there’s a early sort of rapid growth the amygdala  

16:09actually gets too big too fast but then when we  look at older individuals the amygdala is smaller  

16:15and we’ve wondered you know what’s going on  why is this happening uh so cindy schuman  The amygdala in postmortem brain donations

16:23who’s one of our node directors she’s actually  the director of the collection site here at UC  

16:30Davis worked with a postdoc tommy avino to  actually look at the amygdala in post-mortem brain  

16:38donations and what they did was they used a fancy  microscope to actually count the number of neurons  

16:47in the amygdala of post-mortem donations from  individuals who had died at different ages  

16:54and what they found and again here’s a chart that  shows the age of the individual when they died and  

17:01when the post-mortem brain was was donated and  this the lines show you the number of neurons  

17:11in the amygdala that they counted the blue line  is the typically developing individuals and the  

17:18red line is those who had autism during life and  what you can see is that early on the amygdala  

17:28of the individuals with autism actually had too  many neurons yet over time the number of neurons  

17:36decreased so that in adults it was far lower  than in the typically developing individuals  

17:42and this was actually the first indication that  perhaps in autism there is a degenerative process  

17:49taking place maybe not throughout the entire  brain but in the amygdala and we think that  

17:56this is interesting we’re trying to understand  how this could then translate into anxiety  

18:03but it also has implications for other  things that are going on in autism like   epilepsy since the amygdala is one of the  focus focuses of epileptic genesis in adults  

18:18so the bottom line is that not only do we  find using MRI that the amygdala is early  

18:23it is too big early on and gets smaller  later on but we think that that’s because  

18:29there’s actually an active process taking place  where too many neurons are generated early on  

18:36and then for some reason they’re decreasing and it  could be actually through a degenerative process  

18:43that again we’re studying even further now you  might say well okay isn’t it a good thing that  

18:50there’s too many neurons early on more neurons  the better right but it turns out the brain is  

18:55like a symphony everything has to be in tune  everything has to work together and if there’s   too many neurons early on then probably means that  connections are not being formed properly and that  

19:06the structure is probably not working properly as  well and it may be that the too many neurons early  

19:13on produce an anxiety state that due to that  anxiety state could lead to this degenerative  

19:20process that takes place over time anyway that’s  just one example there are many many other  

19:26examples of how we’re learning really new and  interesting information from studying postmortem  

19:34human brains i’m going to let i’m actually going  to let Carolyn start on this slide where she talks  Community Partners

19:41about our community partners uh because she’s  very involved in that aspect of things as well so  

19:47carolyn do you want to take over sure happy to  david that was an excellent synopsis by the way  

19:55so so we’re gonna shift gears here a little bit  and talk you know shifting from the science and  

20:01and things of examples of what we’re starting to  learn um to a little bit more detail about how  

20:07we operate as an organization we wanted to first  highlight our community partners because they are  

20:16an example being of course  the SynGAP Research Fund   you are essential to what we do an integral to our  ability to be successful in our endeavors so our  

20:28community partners involve medical examiners organ  procurement organizations tissue banks as well as  

20:37family advocacy and research groups and it’s  our hope that for our community partners  

20:43we’re able to provide a very unique and important  resource you know in our brain banking initiative  

20:52and and of course to provide support for  your communities at a really important   time if someone has passed away we also do  rely quite heavily on our community partners  

21:04and we rely on you to educate yourselves about  autism brain net so that you understand our  

21:10inclusion criteria so that you understand how a  donation uh occurs and and the process associated  

21:17with that uh and most importantly we rely on our  partners to know to refer families via our 24/7  

21:26hotline and so actually we’ll move a little bit  more into the the hotline and the donation processDonation Process

21:35so so what happens when a family calls  that 877 hotline that is available 24 7.  

21:44the first thing that happens  is they’re connected with our   answering service and indicate to the answering  service that they’re calling regarding a death  

21:53and donation it’s very important to use that  language because the answering service is cued  

22:00to connect you and we can keep going david through  the animation here um because the answering  

22:06service is then cued to connect to the family or  the hospital staff directly with our clinical team  

22:14who david introduced earlier uh is comprised  of myself and my clinical counterpart nicole  

22:21so once you’re connected with nicole myself  or another member of autism brain net staff  

22:29we work with the families and the hospital  staff or whomever is involved to complete the  

22:36informed consent or authorization for post-mortem  tissue donation process we work with the families  

22:43to figure out what is going to be the least  burdensome ways to complete the authorization  

22:50once that process is completed we get to work sort  of behind the scenes to coordinate the donation  

22:57itself and to make sure that that donation is  transported to one of the sites or the closest  

23:03repository that david identified earlier  so it’ll be sacramento of course dallas  

23:10or to boston so once the donation has arrived  safely and has been preserved for research  

23:19nicole or myself work to obtain as much  information about our person as we possibly can  

23:27and that’s so that researchers as they’re  looking at the anatomical structure of the brain   have sort of clinical information to  correlate with any potential differences  

23:36structural differences that they might see and  finally we continue our work with our families  

23:44really into the foreseeable future via our donor  family after care program and so just a little  Donor Family After Care

23:52bit more about the donor family after care program  this is something that we um we find to be just an  

23:59important part of what we do you know we recognize  the importance of what’s happened to our donor  

24:05families and want to honor their loved ones and  provide our families with the appropriate support  

24:12you know as long as they need it participation in  the donor family after care program is of course  

24:17voluntary but we want to in addition to offering  some mementos and and support in writing we also  

24:26do want to stay engaged with our families via our  memories of hope page we send out a card every  

24:32year to let the families know that we’re thinking  about them and of course we offer contact at any  

24:38time you know family members can reach out to us  via email via phone just to learn about what’s  

24:45happening with donation but also many of our  families want to engage in volunteer opportunities  

24:51to support other families or to advocate for the  idea of brain donation and we welcome that as wellFamily Interviews

24:59and finally you know i think a lot of folks  wonder what is it like for a family to go  

25:06through the donation process with us and to  participate in an interview or to participate  

25:12in the follow-up that i was describing earlier  and our experience has really been that  

25:18our families appreciate so much the opportunity  to talk about their person and and we very much  

25:25enjoy learning about that person so here’s  some quotes from our families and last but  

25:31not least we’ll leave you with our key points to  remember which include our 877 the 24/7 hotlineKey Points to Remember

25:44to that we always follow up with you to  provide with our families of course to  

25:50provide bereavement support and and the  clinical follow-up that i was describing

25:57and so this is something that we haven’t touched  on yet but for families who are interested  

26:03in long-term care planning so in the same way  that you are doing your long-term financial or  

26:08medical directives you can also consider brain  donation now and we will provide you with the  

26:14materials that you that you may find helpful  to include in those long-term care planning  

26:20endeavors and last but not least a point that that  we always want to make is that there’s no cost to  

26:28families when donating to autism brain that um  and also there is no cost to researchers who are  

26:35looking to utilize this very  important and precious resourceMore Information

26:42and i think that’s it yeah so we we have  more information excuse me we have more   information on our website please feel  free to go to our website we also have a  

26:54quarterly newsletter that lilliam is in involved  in developing you can sign up for that at autism  

27:02brain dot org slash newsletter it brings to you  stories not only about the staff of autism brain  

27:10dead but also about donors and then some of the  scientific advancements that have taken place  

27:16due to postmodern autism research um and uh we  always are happy to answer questions so we um we  

27:27we you can go to our website as well and and post  a question to us which we’ll we’ll respond to as  

27:35soon as possible so uh with that i’ll we’ll open  it up to questions i’m going to stop sharing and  Questions

27:44thanks again for your attention thank you marcia  did you want to say anything about the anxiety

27:53yes yes i have a few questions that was amazing  the part of the amygdala and the anxiety  

28:01and and we actually that that put me to  work right now because thinking most of our  

28:08i mean our patients MRIs they are normal  but i don’t think nobody has dedicated to  

28:14compare really the size of the amygdala you  know that that was a very amazing point and  

28:21and it all comes down to i mean they look  like a bike you’re a slightly they pick  

28:29age was after five between five and ten when they  make the la plateau and then the number of cells  

28:35goes down yep yes so it actually becomes even  more interesting and complicated but i’ll try and  Anxiety

28:42summarize it briefly and that is that um there’s  sort of standard anxiety that um you know that  

28:52people without autism or other neurodevelopmental  disorders have but then there’s a form of anxiety  

28:58that we call distinct anxiety that is really  specific to autism and other neurodevelopmental  

29:07disorders and it turns out there’s a paper that  will be coming out or just came out actually in  

29:14biological psychiatry a journal that is you know  well-respected journal in in psychiatric disorders  

29:23that the amygdala shows a different pattern of  alteration whether the person with autism has  

29:31the regular form of anxiety or this distinct form  of anxiety but really it points to the idea that  

29:37the amygdala is the heart of of probably the  problem related to the genesis of anxiety and  

29:45Marta you know it’s a good point when you know if  you look at the brain of a individual with autism  

29:52it doesn’t look different it  really necessitates some very  

29:59detailed and sophisticated analytic techniques  in order to get to the point where you understand  

30:04that something like the amygdala is altered  and it’s not altered in the same way in  

30:10all people with a particular disorder so you  really have to have number one a big population  

30:15and then you have to use these more sophisticated  analytic techniques but when you do that then  

30:21you start actually finding some some interesting  differences and of course we’d like to know what  

30:27causes those differences and whether they could  be treated you know again this is always our goal  

30:33do we get information that allows us to do  something that’s going to help help people   with these disorders yeah another another thing  i picked up from what you said was and we have a  

30:45big amount of kids with normal eeds that we know  they are having seizures and we always think it’s  

30:53located in the deep brain and of course the  amygdalis has very deep brain then and that  

30:59was another thing it was quite interesting that  you guys find out that is a very good location for  

31:06seizures in adults and that was very interesting  to know thank you you know i again i think um  

31:14you know for for something for the foundation to  think about down the line is maybe to mobilize  

31:21um you know an MRI analysis of of you know  of the brains trying to get a larger group of  

31:28individuals with Syngap and then and then  you know focusing on some of these more  

31:36innovative techniques for analyzing the brain  because again you know standard sort of clinical   scan you you may or may not see anything but i  think once you actually start using the techniques  

31:47that we and others i mean we’re not the only  group that does it but but there are i think   very sophisticated techniques you just need larger  numbers of cases and and you know that’s the point  

31:59uh to be able to make sense of this but yeah i  i find you know in in autism sort of generally  

32:06um there are up to 30 percent of individuals  that will ultimately have a seizure disorder  

32:13and the data says that 50 percent will show a  seizure early before puberty but 50 of them will  

32:21have a seizure after puberty into their late  teen years in fact i mentioned you know the  

32:27mind institute was started by families who have  children with autism those children now we’re  

32:34we’re about 22 years that we’ve been doing  the mind institute those children are now  

32:40adults and you know two or three of them  actually had their first seizure when they were  

32:46older teenagers and you know the question is  is there anything that we can understand about   the development of their brain that’s going to  predict that that’s going to happen we you know  

32:56maybe there’s a prophylactic treatment that we  could you know introduce in order to try and avoid  

33:05and again you know it’s a sad situation but many  of the donors that we receive at autism brain net  

33:13are individuals who have their first seizure  and actually die from their first seizure and  

33:20you know again it’s a situation where hopefully  the research will get to the point in time where  

33:28we can predict who’s going to have a seizure  earlier on and avoid that devastating event in in  

33:35the family’s life so thank you for those comments  smart i’m glad that there was some synergy and  

33:41what we said and your interests there’s huge  synergy i wanna i wanna make a couple comments  

33:48if you permit me the first is once our families  get seizures under control the next thing i   encourage them to do is talk to their pediatrician  about anxiety myths but i do see that anxiety is  

33:57prevalent in our cup population and and leaves a  lot of behaviors and challenges for everybody and  

34:02i i love that i loved your i took a screenshot  of the slide with the anxiety stats i’m going   to use that but um i want us i want to bring  it back to brain donation for a second i want  

34:11to share with people how i found you and i’m going  to after i talk i’m going to invite Nancy to share  

34:17but we have so to be clear for any newly diagnosed  families who are watching this i know there’s some   people on facebook watching Syngap is Syngap is  not neurodegenerative our kids do not die of this  

34:27disease and to my knowledge no Syngap patient  has died of seizures although SUDEP is something   we should all be mindful of right with that said  you know we do have a few older patients and Nancy  

34:39who’s the the sibling of Caren who’s the oldest  living patient called me and said hey i want to  

34:46i want to know what to do when Caren passes i want  to make sure that you know we take full advantage   of the life she’s led and what she’ll leave behind  and so i reached out to our scientific advisory  

34:57board some very prominent people like yourself  and and said where do i go to donate a brain how  

35:02what do i tell this family who’s asked me this  important question and i got put on the phone of   a lot of important people around brain banks  and it was very much like i got to them very  

35:11fast and then they were like okay who’s dying  where are they and i was like no they’re not   dead yet but i just want a plan and they were like  oh call me when they’re done and and it felt very

35:22i mean they’re very busy people running important  programs but it felt very transactional and   i thought to myself this is not what i  want my families to go through and then  

35:31you know i love that you put up that partner  page Carolyn because as i was looking around  

35:37we reached out to other rare disease groups  where i respect tremendously and you had a   lot of them on there Angelman FOXG1 51a mcdermott  and i said what are you guys doing and again and  

35:46again i heard autism brain net and i said let me  talk to these guys and and two things struck me  

35:53um one you’re part of the Simon’s foundation who  i know and respect and does everything well and is  

35:59very well funded so cost was not an issue and two   there was there were these very kind good  people who were there to talk to and support  

36:07families and that struck me as a huge service  and and as somebody who leads this organization  

36:15i didn’t want to go back to Nancy who i respect  so much and say you should work with them unless   i was sure and between the endorsement of other  patient organizations and and the great experience  

36:24i had talking to you guys i was very comfortable  and then we signed an agreement that said  

36:32you know if you guys get some Syngap  tissue when as people request that tissue  

36:38you you will let us know about that request and  ask our opinion we don’t have any authority we   don’t get to make any decisions but  we get to say oh yeah great guy or  

36:46never heard of this one or maybe we should talk  to him whatever and i was so grateful for that   post-donation connectivity because  while our children don’t die of these  

36:55diseases if our children die from  seizures from COVID from whatever  

37:00such a rich resource to my knowledge there’s  like one Syngap brain that’s been studied in   the in the blast can’t paper in 2019 but it’s  not sitting in the states it’s not available  

37:09so i’m so i just want to emphasize to people that  we didn’t just find you guys and sign up on the   website right it was a huge process i went through  and and i really since i’m willing to stand before  

37:19my my community and say i think autism brain net  offers a valuable service and when god forbid any  

37:25of us have to go through this i feel comfortable  that you guys do a great job supporting them   so with that said if i’ve left you anything to say  Nancy can i can i bring you up and ask you to um  

37:36to share your thoughts because you have had this  sort of pre-meeting right are you there Nancy

37:46there she comes here she comes

37:55and i think most people know but Nancy’s  on our board and she’s Caren’s sister   and Caren is the oldest living singaporean okay

38:04hello everyone it’s so nice to meet everyone   so it was very i was thinking Caren was very  ill and then she got better and survived and  

38:15i kept thinking on my license i have that i’m  donating my body parts if something happens to me  

38:22and i was thinking i’d like to do the same  for Caren i found out she had Syngap and i  

38:28wanted her legacy to continue i wanted Caren’s  life to mean something and i wanted to make  

38:35her to make a difference and i just wanted to to  continue so i reached out to mike i did all of  

38:41this wonderful work and came back to me and shared  the information about autismbrain.net and then i

38:51received information from carolyn hare and  carolyn and i spent a lot of time talking and  

38:57she was just so wonderful and calm and explained  everything to me and um i spoke to my other sister  

39:05Jennifer who is co guardian and she’s like oh  absolutely she said i have that on my license too  

39:11we should you know absolutely be thinking along  those terms for Caren so we completed um you know  

39:16some of the paperwork and got things moving along  and and i just have peace of mind now it’s just  

39:22it’s on the back burner and Caren’s  turning 66 soon in three months so  

39:30she’s healthy that’s great but just it’s just  on the back burner and peace of mind and i feel  

39:38really good about this decision really good about  it even better now after watching this webcast  Brain Donation After Death

39:46webinar yeah thank you could uh mike i just want  to answer a question that heather put in the chat  

39:53box uh just because it’s a really important  question so the question was since the brain  

40:00isn’t removed during embalming can it be donated  after the funeral or does it have to be donated  

40:05immediately after death like other organs that  is an absolutely critical question and we make  

40:13every effort and we would ask that that we be  called as soon after death as as possible and  

40:22I’ll just say that the usefulness of the brain for  scientific research is depends on the time after  

40:32death in which it’s acquired so the the brain will  change over time we want to see the brain the way  

40:39it was most like when it was uh in the person in  the living person and so the answer is just like  

40:49an organ that you would donate for transplant  that is most beneficial quickly after death  

40:56the brain donation has to take place  as soon as possible after after death  

41:04and so we’re talking about you know 24 hours is  is 24 hours or less is optimal we will accept  

41:13donations longer than that but some people think  well you know it doesn’t really matter if we have  

41:19the funeral and go on and on and on the longer the  the brain is in is not donated the less it’s going  

41:28to be useful for for research so just just keep  that in mind when people are thinking about making  

41:35a donation and I want to i’m glad Nancy that that  you’ve had such a good experience and i’ll second  

41:42the note that Carolyn is just absolutely  wonderful and uh she can never retire from

41:51because she would not she’s irreplaceable and  we need to keep her doing what she does so wellQ A

41:59dr ramara if you can go we have a question from  hans on the q a and uh we have a hyphen india from  

42:09a phd master that is doing actually MRI’s studying  MRIs and he i think is very interesting on this  

42:19um yeah i’m looking at it okay Hans  question yeah yeah yeah that’s terrific  

42:27so he’s doing research uh on on children less  than three years old with and without autism  

42:36that’s really really important  and in fact at the mind institute   we also are doing research starting with kids when  they’re first diagnosed at two to three and then  

42:47following the development of their brain over  time that’s the only way that we could actually   see those changes in the amygdala over time so  i would encourage you to keep going if you want  

42:58to talk more about your research or let me know  what you’re doing just send me an email and we  

43:04can talk offline i’d love to hear more about what  you’re doing oh in the yeah in the Q&A let’s see  

43:11the question uh to get our diet oh hans i’m sorry  i was looking in the chat so thank you to get our  

43:18diagnosis my family did trio testing so as as dad  i’ve registered not only my son but also for us  

43:27also us for trio brain donation oh fantastic  that way researchers can have genetically  

43:32related samples with the age of with the age cut  off that seems unavailable with abm am i mistaken  

43:40no the age cut off uh really applies to um  to control donors but in the case that you’re  

43:52talking about hans where it’s a family member  we see that as very valuable and again it’s a  

43:59you know many cases are idiosyncratic and we want  to work with families so in the in your case if  

44:07you’re interested in the possibility of doing  a trio donation please contact us we can make  

44:14special arrangements for that to happen and we do  get asked by by our scientific researchers if we  

44:22have parents of children with autism available in  our collection we we have a small number but we  

44:30i don’t think we actually have a trio yet and so  we would welcome you to um to contact us and see  

44:37if we can arrange that in a long long long time  from now thank you Hans for your question though

44:48another question well somebody else comes ah um  for example in syngap we know that our children  

44:56have a slow GI tract and and and you only  get the brains but what happened with the  

45:05rest of the tissue and wonder how many people  has that question with the rest of the body  

45:12for example for us it’s important GI to put water   yeah no that’s a really good question too and  we’re we’re we’ve been um we’ve been working on  

45:23that question we haven’t come to a final decision  about how to do how to work this out we again  

45:30we’ve had a couple of cases um now with Syngap  but with other genetic disorders where other body  

45:40organs are really affected so we had one case  where the kidneys and and liver and peripheral  

45:48nerves were actually um affected we knew ahead  of time that researchers would be interested in  

45:56those organs so we made a special situation  where we actually did collect those as well  

46:04um the GI tract is really interest i think across  autism and uh um we’re gonna have our next sort  

46:12of policy meeting in October of this year i think  one of the big questions are are we going to go to  

46:21collecting GI you know routinely it you can think  about it every time we make a decision like that  

46:28it has you know costs associated with it it has  you know lots of logistical kinds of things and so  

46:36we wanted to make sure that the brain being the  most important organ that we had a good system  

46:42for doing brain collection we feel like  we have the optimal system now in fact  

46:49and i wanted to mention this too we the the  other collection uh in the united states for  

46:55autism and neurodevelopmental disorders is the  nih neurobiobank we don’t compete with them we  

47:02collaborate with them and in fact we recommend  that when researchers want tissue that they look  

47:08at both sources and in fact we have an ongoing  communication with people at the nih neurobio bank  

47:15and they’ve now agreed to process their brains  that are donated with individuals with autism  

47:23in exactly the same way that we process the  brains which we think is a little bit more  

47:29sophisticated than the way brains have typically  been processed and in order to make sure that  

47:35regardless of which place you get tissue it’s  going to be the same quality and type of tissue so

47:45we will probably have a decision on how commonly  we’ll collect gi tissue my guess is that we’re  

47:54probably going to try and figure out a way to  do it because i know it’s a you know actually um  

47:59that the gi system is is has as many neurons or  close to as many neurons uh as major portions of  

48:09the brain so it’s it’s sort of the second brain  and uh and again gi problems affect huge numbers  

48:17of people with with these disorders and we need  we you know we don’t understand them either yeah  

48:23Syngap is the same so again bring it back to our  community most of our parents are more terrified  

48:29of dying before their kids than burying their  kids um because we’re worried about who’s going   to take care of them and all the issues they’re in  but if a parent has if if there’s a sibling like  

48:40Nancy who’s got an you know needs to be mindful of  this stuff or if a parent has a kid who is sick um  

48:49and can see around the corner i don’t know carolyn  can you just talk for a little bit about the value  

48:54of doing a little bit of pre-work in terms of just  what can be done in advance to reduce the burden  

49:01in the in a really difficult time when someone  passes yeah absolutely and it isn’t you know  

49:08it’s we’re very aware of the fact that this is  a sensitive conversation to have and and but at  

49:16the same time it is helpful for families like  Nancy to take some initiative and reaching out  

49:23um having the ability to plan a little in  advance is always very helpful number one  

49:30we can understand more about the person we’re  talking about we can do some of the logistics  

49:37the literal uh coordination of donation ahead  of time by connecting with all the right people  

49:44we can provide our families with all of the forms  that they’ll need at the time of death and and uh  

49:51and i think of equal importance and and  as a follow-up to the conversation that  

49:57we were just having if there are special  considerations like there are with Syngap  

50:04you know with the GI tract we would  want to understand that so that we   can make the extra effort to accommodate  those those specific needs and interests

50:15great thank you yeah of course nancy going  to say something anyone else have questions  

50:22um i just want to point out that um another thing  i cast from that was that a lot of our singapians  

50:29don’t get the diagnosis of autism early and i  don’t get never the autism diagnosis and i’m  

50:36glad the rules kind of changed lately that is  more inclusive but i’m glad that you guys even  

50:42just with the genetic diagnosis will take the  sample it doesn’t have to have autism diagnosis  

50:49is yeah we i guess we have a typical  autism our kids are very cheerful and  

50:56yeah well it’s it’s you know it’s yeah and  again um this is getting more complicated  

51:06in the sense that um i we we are we’re using our  inclusion criteria as anybody that has a variant  

51:13uh in any of the spark genes so the spark genes  i think now there’s 153 genes that are implicated  

51:22in autism and related disorders and something  like 16 copy number variations so probably most  

51:29people don’t know that they they have one of these  variants but in the next decade i think more and  

51:35more people will have you know next generation  sequencing and they will actually find out that  

51:41they have you know sin gap or something else that  that is related to the intellectual disability and  

51:48and i you know the simon’s foundation again is  very keen on understanding how uh variants and  

51:55and these in the genetic architecture of  of individuals can lead to some of these  

52:01neurodevelopmental disorders so yeah it and  and mike going back to what you said before I  

52:09you you did an incredible due dil diligence i  i i felt like we were sort of on trial you know  

52:16but but it’s that’s fine and uh you know  i i think it’s been a pleasure for me to  

52:22work with the simon’s foundation because what  you said is absolutely true they you know um  

52:28jim and marilyn simons who set it up from the very  beginning wanted to do number one they they it was  

52:36totally altruistic they they wanted to help people  and they wanted to help you know the autistic and  

52:41other nerd developmental communities and number  two you know jim’s a brilliant guy and maryland’s  

52:47a brilliant woman and they wanted to make sure  that their organization reflects brilliance as  

52:52well and it’s it’s we we try and live up to  their example it’s sometimes not easy but we  

52:58try to live up to the example so we’re glad you  you put in all the effort to select autism brain  

53:04that to partner with and uh we we work hard to be  worthy of your uh your trust absolutely thank you  

53:12for saying that it’s very nice of you i appreciate  it i’m sorry i made you feel like you’re on trial

53:18in the best possible way i just didn’t i’m in  the best possible way i’m just you know i’m just   being just kidding um all right if there’s no  more questions we’re going to wrap up on time  

53:30which is great i really appreciate this and  hope that this presentation helps families um   think about this as and when  they’re ready yeah thanks again  

53:38mike and everybody we appreciate it so  much thank you for having us thank you

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