Autism Genetics Study

[CosmicVenus]

Hi everyone, I'm a senior in high school at a private school in Roanoke, Texas. Currently, I'm in the AP Research course and I've decided to do my project on the genetics of autism, specifically how mutations in certain autism candidate genes affect the expression of symptoms. I'm looking for people diagnosed with autism in the DFW area to participate in my study. This project is being completed under the aid and supervision of Dr. Nicole Phillips at the UNT Health Science Center in Fort Worth.

Participation will involve you coming out either to my high school or the UNT Health Science Center to submit a DNA swab and fill out a short survey. The survey will ask about any family history of autism and the expression and severity of symptoms.

I'm hoping that posting here will help me find more participants as my data collection deadline is fast approaching. Complete anonymity will be maintained and I will send an informed consent form that better explains my project if you choose to participate. Thank you so much!

 

[Neonatal RRT]

SPARK has a huge genetic data base. Dr. Sebat summarizes some of the key findings of the Autism Genome Project.

I am thinking if you reach out to them, they may be able to give some more insight, information, and guidance with your project.

 

[Levitator]

Hi everyone, I'm a senior in high school at a private school in Roanoke, Texas. Currently, I'm in the AP Research course and I've decided to do my project on the genetics of autism, specifically how mutations in certain autism candidate genes affect the expression of symptoms. I'm looking for people diagnosed with autism in the DFW area to participate in my study. This project is being completed under the aid and supervision of Dr. Nicole Phillips at the UNT Health Science Center in Fort Worth.

Participation will involve you coming out either to my high school or the UNT Health Science Center to submit a DNA swab and fill out a short survey. The survey will ask about any family history of autism and the expression and severity of symptoms.

I'm hoping that posting here will help me find more participants as my data collection deadline is fast approaching. Complete anonymity will be maintained and I will send an informed consent form that better explains my project if you choose to participate. Thank you so much!

No. No. No. It's basic 20th century history. Stop studying who I am so that you can claim you're more qualified to tell me who I am than I am. Don't engineer more of me, and keep your hands out of my genes. Kthx.

 

[Levitator]

No. No. No. It's basic 20th century history. Stop studying who I am so that you can claim you're more qualified to tell me who I am than I am. Don't engineer more of me, and keep your hands out of my genes. Kthx.

I just realized you're a high school senior, but that's precisely where someone should be having a very serious talk about the implications of this stuff. Go watch the movie GATTACA.

 

[Tom]

Don't engineer more of me,

Idk. I kinda like the idea of genetic engineering if it could bring Elvis back. Sort of.

 

[marc_101]

Make sure you have a protocol that explains how the information is going to be stored and deals with privacy issues. A survey that is anonymous is not a big deal, but when you collect biological samples it gets complicated. Consent, privacy, etc. I imagine the study has been reviewed by UNT's IRB, so make sure you include the information when you recruit for participants.

 

[CosmicVenus]

No. No. No. It's basic 20th century history. Stop studying who I am so that you can claim you're more qualified to tell me who I am than I am. Don't engineer more of me, and keep your hands out of my genes. Kthx.

My project isn't meant to harm people, I am only looking at the way genes other scientists have identified as autism culprit genes interact and affect the expression of known autism traits. Research like this could be used to diagnose people earlier using genetic counseling and allow for treatment to begin earlier in life. The reason I was initially interested in this was because I am autistic and suspect some members of my family are. I was interested in how heredity and genetics work concerning autism, and through my research, I found that there isn't much information about specific genes. I'm not looking to harm people or treat autism like a bad thing, this is just a topic I am interested in and I'm attempting to use it for my AP research project. I'm sorry if it came across as I'm trying to tell you who you are or engineer more of you, and I understand why you would respond like this, but I am truly just trying to learn more about the topic and finish this study because college board/AP is dumb and I'm running out of time.

 

[CosmicVenus]

Make sure you have a protocol that explains how the information is going to be stored and deals with privacy issues. A survey that is anonymous is not a big deal, but when you collect biological samples it gets complicated. Consent, privacy, etc. I imagine the study has been reviewed by UNT's IRB, so make sure you include the information when you recruit for participants.

Yeah, that's something that we focused on in class. It's been reviewed by my school's IRB committee so I think everything's ok. I have drafted consent and HIPAA forms that explain my project more thoroughly than this post. Thank you for your feedback though!

 

[CosmicVenus]

SPARK has a huge genetic data base. Dr. Sebat summarizes some of the key findings of the Autism Genome Project.

I am thinking if you reach out to them, they may be able to give some more insight, information, and guidance with your project.

Thank you so much! I was actually looking into this near the beginning of my research, it's such an interesting resource!

 

[Levitator]

My project isn't meant to harm people, I am only looking at the way genes other scientists have identified as autism culprit genes interact and affect the expression of known autism traits. Research like this could be used to diagnose people earlier using genetic counseling and allow for treatment to begin earlier in life. The reason I was initially interested in this was because I am autistic and suspect some members of my family are. I was interested in how heredity and genetics work concerning autism, and through my research, I found that there isn't much information about specific genes. I'm not looking to harm people or treat autism like a bad thing, this is just a topic I am interested in and I'm attempting to use it for my AP research project. I'm sorry if it came across as I'm trying to tell you who you are or engineer more of you, and I understand why you would respond like this, but I am truly just trying to learn more about the topic and finish this study because college board/AP is dumb and I'm running out of time.

There is a lot of harm that comes from good intentions. I don't know a single person who would cure their own autism, and I wouldn't either. I don't see myself as the one with the problem. I'm not doing anything wrong, I'm doing things different, and it's others who find that unacceptable.

 

[Levitator]

Oh

Idk. I kinda like the idea of genetic engineering if it could bring Elvis back. Sort of.

View attachment 124332

Wow. It took science to improve upon Elvis. What a relief, I thought all it did was produce double-edged swords that only get sharpened by tyrannical maniacs.

 

[CosmicVenus]

There is a lot of harm that comes from good intentions. I don't know a single person who would cure their own autism, and I wouldn't either. I don't see myself as the one with the problem. I'm not doing anything wrong, I'm doing things different, and it's others who find that unacceptable.

I think you’re misunderstanding my project. I’m not attempting to cure autism in any way. The “treatment” I refer to includes therapy, accommodations in school, etc. I wouldn’t cure my autism either, that isn’t what I’m trying to do.

 

[Levitator]

I think you’re misunderstanding my project. I’m not attempting to cure autism in any way. The “treatment” I refer to includes therapy, accommodations in school, etc. I wouldn’t cure my autism either, that isn’t what I’m trying to do.

Sorry, I'm really exceedingly skeptical as to what advice even professionals can offer people who are born different so that they can conform to a society which is broken and hates difference. Society's response to diversity starts out lousy because it's based in ignorance, and then the structure of society is dictated by control freaks who are worse than ignorant. They only care about the mainstream masses because they are their bread and butter, while numeric minorities are a poor investment. They will move heaven and earth for 51% of the votes, but they will not lift a finger for 49%, much less 1%.

 

[Levitator]

Sorry, I'm really exceedingly skeptical as to what advice even professionals can offer people who are born different so that they can conform to a society which is broken and hates difference. Society's response to diversity starts out lousy because it's based in ignorance, and then the structure of society is dictated by control freaks who are worse than ignorant. They only care about the mainstream masses because they are their bread and butter, while numeric minorities are a poor investment. They will move heaven and earth for 51% of the votes, but they will not lift a finger for 49%, much less 1%.

I'll put it this way. It's really easy to tell if someone's skin color is dark. When we have stamped out the mistreatment of people over a criterion we can clearly perceive and define, then let's start molding society to intervene early in the lives of people who are ineffably unusual, and begin telling them their business from an early age. Besides, what are you going to tell someone about how to be, if you have to look at their blood to find out who they are? You're giving them advice about their mind, where their soul is. before you've even witnessed how it differs; you're looking at their blood, but giving their mind advice. Let's not.

 

[The Pandector]

I'll put it this way. It's really easy to tell if someone's skin color is dark. When we have stamped out the mistreatment of people over a criterion we can clearly perceive and define, then let's start molding society to intervene early in the lives of people who are ineffably unusual, and begin telling them their business from an early age. Besides, what are you going to tell someone about how to be, if you have to look at their blood to find out who they are? You're giving them advice about their mind, where their soul is. before you've even witnessed how it differs; you're looking at their blood, but giving their mind advice. Let's not.

Your words strike a chord in me, @Levitator . Somewhere along the line, we forgot the place and limitations of science. I recently had a conversation with someone totally convinced that the only reliable truths in this universe come by the grace of science, all other knowledge being suspect to the point of being useless. Which, as you suggest, leaves the scientific mind with an unjustified faith in their own narrow focus. That, I believe, is the basis for the scientist’s willingness to explain to the rational human just how little that human understands themselves and their world, which leaves your scientist with, apparently, all moral authority to stake a claim to an understanding they don’t really possess. In that particular case, I was allowed to use only the words not claimed by the scientist, like I had access to the entire alphabet except for the vowels, since they belong solely to science.

It’s this inability to see beyond the limitations of science that stifle the wisdom that science might otherwise have gained. Looking at blood to judge the soul… an excellent example. Not bad science, just misguided.

 

[Levitator]

Your words strike a chord in me, @Levitator . Somewhere along the line, we forgot the place and limitations of science. I recently had a conversation with someone totally convinced that the only reliable truths in this universe come by the grace of science, all other knowledge being suspect to the point of being useless. Which, as you suggest, leaves the scientific mind with an unjustified faith in their own narrow focus. That, I believe, is the basis for the scientist’s willingness to explain to the rational human just how little that human understands themselves and their world, which leaves your scientist with, apparently, all moral authority to stake a claim to an understanding they don’t really possess. In that particular case, I was allowed to use only the words not claimed by the scientist, like I had access to the entire alphabet except for the vowels, since they belong solely to science.

It’s this inability to see beyond the limitations of science that stifle the wisdom that science might otherwise have gained. Looking at blood to judge the soul… an excellent example. Not bad science, just misguided.

More generally, psychiatry is a terrifying pseudoscience, which makes it inferior to science. It provides pretexts to bypass human rights, to label and pigeonhole people, redefine certain persons as less valuable or legitimate, strip them of their freedom, to force treatments on them. The list goes on and on, and at least phrenology is based on the bumps on your head, but a biased psych doctor can claim anything he wants, and then it's the prestige of a doctor's word against everyone else. I would be happy for all involuntary psychiatry to be banned, and for it to be illegal for anyone to inquire psych history outside of treatment.

 

[Neri]

SPARK has a huge genetic data base. Dr. Sebat summarizes some of the key findings of the Autism Genome Project.

I am thinking if you reach out to them, they may be able to give some more insight, information, and guidance with your project.

This was really interesting! Thank you @Neonatal RRT! I can add a little (albeit anecdotal) data that contributes to these findings.

My (autistic) Dad is currently completing his PhD (in historical linguistics).

I am third generation university educated (but thanks to undiagnosed and untreated ADHD, not completed).

In fact, my ( most likely, autistic) grandmother on my mum's side, would have been a very rare woman in her time, getting uni educated in post 2WW England, and then heading a food testing lab in Victoria in the 60s and 70s. She managed to shine at work, but bombed out really badly in the parental department.

I have 7 children; 5 sons and 2 daughters (first born born when I was 17, second at 19, then 21, 22, 25, 29 and 33).

My oldest son is diagnosed with schizophrenia.

My second born son has schizophrenia, Autism, developmental delays, cognitive impairment and now they are saying he also has cerebral palsy (we need a neurologist to confirm what his psychiatrist has claimed).

My oldest daughter is (I think) neurotypical with some ADHD traits.

My two middle son's show strong elevated IQ, Autistic and ADHD traits.

My youngest daughter maybe ADHD but only mild autistic traits, like being a very honest, unpretentious, slightly child-like, young woman.

My youngest son is "gifted" "e2", Autistic and ADHD, also showing signs of schizophrenia, as he hallucinates a lot, and has already been offered anti-psychotics.

"Younger motherhood is associated with poorer social skills"~ YES!
My grandmother had my mother at 18, and I had my first child at 17.

My oldest daughter has the highest education, of all my children, having completed TAFE course in Fashion Design (she got fashion designer of the year award). And began a course in costume design.

I have autistic nieces and nephews (some diagnosed, some in the process of diagnosis, some not diagnosed) and siblings (not diagnosed though). My brother was diagnosed ADHD as a child.

I have one (autistic) sister with a double degree in accounting and Law. She used to work for the Federal Police Commissioner in Canberra as his speech writer, but is too ill now, with a brain leak they can't fix.

 

[MNAus]

I would guess that participants would be able to view the results of the DNA swab (after all, it is their medical data)? If so, I'd urge anyone to give thought on the implications of identifying a gene strongly linked with autism.

My family are currently tackling this and gave it a LOT of thought. For those who suspect or indeed are diagnosed with autism, finding a gene that strongly predicts autism can bring some sort of, I don't know, legitimacy? As in physical evidence giving a feeling of certainty. But there will be people in your family who don't wish to know they are autistic even if they display all the hallmarks, or perhaps others who don't express strongly but might pass on to children who express in a stronger fashion. Do ensure you've though through how you might proceed with an identification of such markers, it can be VERY upsetting for some of those close to you, and quite confronting.

 

[Neri]

Your words strike a chord in me, @Levitator . Somewhere along the line, we forgot the place and limitations of science. I recently had a conversation with someone totally convinced that the only reliable truths in this universe come by the grace of science, all other knowledge being suspect to the point of being useless. Which, as you suggest, leaves the scientific mind with an unjustified faith in their own narrow focus. That, I believe, is the basis for the scientist’s willingness to explain to the rational human just how little that human understands themselves and their world, which leaves your scientist with, apparently, all moral authority to stake a claim to an understanding they don’t really possess. In that particular case, I was allowed to use only the words not claimed by the scientist, like I had access to the entire alphabet except for the vowels, since they belong solely to science.

It’s this inability to see beyond the limitations of science that stifle the wisdom that science might otherwise have gained. Looking at blood to judge the soul… an excellent example. Not bad science, just misguided.

It's even more ironic, when you consider how much of "autism science" IS based on anecdotal data and not genetics and MRI scans and such. No such arbitrary lines are actually drawn in many scientific disciplines between "anecdotal" and "quantifiably measurable".

 

[marc_101]

I understand the skepticism but also keep an open mind. We all seem to have a different understanding of "science." It has been helpful to use resources to systematically understand and define the collection of traits (syndrome) that are currently called autism, which I'm sure will be further refined and relabel in the future. The more we understand it, the more helpful it has been for us, whatever it is you want to do with your life.

This forum and our understanding of ourselves would not exist without that effort. That is science.

Science is not an obscure incantation; it's the same you're all doing in these posts: trying to understand a problem -- it just happens to come with a way of doing things that has been systematized over the last (more or less) hundred years. Or see it like this: a way to study anecdotes and build theories around them.

The fact that there is no MRI or genetic test is because it turns out that autism (and other neurological problems and mental illness) happens to be a very complicated problem. They are syndromes that do not depend on a single gene but seem to be the product of many genes combined with the environment. It's not like eye color.

Personally, I'd rather more is done to better understand autism than giving up because the issue is difficult.

Keep in mind that over the entire timeline of human existence, our ability to understand the world is less than 1 second old. We only started to conduct randomized experiments about 100 years ago. The structure of DNA was discovered in 1953. Statistics as a field is a baby. A baby that has grown a lot only in the last 30 years because with faster computers we can do things that were impossible before.