Embryonic gene editing tightens the feedback loop between cultural and biological evolution. The species-level effects remain unclear, but some families are already buying a potential genetic advantage that others can’t.

# Summary

Autism spectrum disorder is a heritable neurodevelopmental condition affecting approximately 3% of children[^(1)](https://www.medrxiv.org/content/10.64898/2026.08.24.26360398v1#ref-1)\^(,)\[\^(2)\](https://www.medrxiv.org/content/10.64898/2026.08.24.26360398v1#ref-2) that presents with core behavioral features and a range of possible comorbidities, including intellectual disability[^(3)](https://www.medrxiv.org/content/10.64898/2026.08.24.26360398v1#ref-3). While common variants contribute substantially to autism liability[^(4)](https://www.medrxiv.org/content/10.64898/2026.08.24.26360398v1#ref-4), the discovery of specific autism-associated genes has largely been driven by studies of rare and *de novo* variants[^(5)](https://www.medrxiv.org/content/10.64898/2026.08.24.26360398v1#ref-5). Many of these genes are also linked with broadly defined developmental disorders[^(5)](https://www.medrxiv.org/content/10.64898/2026.08.24.26360398v1#ref-5)\^(,)\[\^(6)\](https://www.medrxiv.org/content/10.64898/2026.08.24.26360398v1#ref-6), but their involvement in other conditions has not been mapped at scale. Here, we analyze autosomal rare coding variation from 62,429 individuals with autism from research and clinical cohorts to identify 253 autism-associated genes at an estimated false discovery rate < 0.001. We cluster them based on association evidence from large-scale studies of developmental disorders, schizophrenia, bipolar disorder, and epilepsy, generating six clusters of genes with differing biological pathway enrichments and patterns of comorbidities. Investigating rare variant associations in the population using the UK Biobank and *All of Us*, we identify autism-associated genes displaying pleiotropy across physiological systems. In addition, we report 497 genes impacting development in a meta-analysis with 26,109 published developmental disorders samples. Collectively drawing upon data from over 1.5 million individuals, our study finds that rare variants across hundreds of genes contribute to autism with variable phenotypic outcomes.

Breast Cancer genetics study from home— sharing in case it helps:

This Rutgers study is looking for genetic clues to prevent BC and create better treatments. It takes 5 minutes to sign up, they send a free kit, you spit at home and mail it back. That’s it. You get a free ancestry report as a thank-you.

Who can join: Anyone 18+ living in the U.S. can join, but they especially encourage those with breast cancer or family history.

Why I’m posting this: they’re trying to reach communities that research has historically missed, and word-of-mouth from people in the study reaches more people than their own outreach does.

Link if you’re interested: https://join.rugcc.org/r?T4.gdjmcc

Is it possible to carry genes for brown eyes without having brown eyes? Or is it impossible because brown eyes are dominant? I have grey / greenish eyes with just a little bit light brown in the middle. I’m wondering this because all of my four kids have brown eyes like their dad. Could be just a coincidence of course but I was thinking if it had something to do with my some of my family members having brown eyes. My mom and brother both have brown eyes , my sister has brown ish green , my other brother has blue / grey and my dad has blue eyes.

Not complaining that my kids have brown eyes of course, I think brown eyes are very beautiful and they also protect more against the sun from what I’ve heard. I was just curious because other couples I know with different eye colors often have kids with different eye colors, some with the fathers and some with the mothers. Expecting baby number five now and we’ll see what color her eyes will be.

For a few years now I have loved the idea of doing WGS. Not for medical reasons or any other reasons in particular. It's just something I think would be interesting to do. Yes this might be weird and not make sense but lots of us have our own weird interests so try not to judge.

Except I've noticed a large barrier in my attempt to do so. There is no medical reason, therefore no geneticist is going to do WGS (Not that they would in most cases even if there was a medical reason).

There are of course companies you can pay to do this which is what I looked into. However it seems even with 30x WGS and all the correct lab certifications etc etc, the consensus is that you still can't trust DTC testing, particularly the interpretation. Sure i could do it anyway because it's just out of personal interest, but equally I am NOT ready to pay that type of money for testing that is not as accurate as possible. I wouldnt feel satisfied knowing that some of the results are could be wrong and especially if theres false positives or nevatives for things (needless to say I would speak to a genetic counsellor/geneticist anyway)

So, is there actually a way for a member of the general public to obtain high-quality clinical-grade WGS for personal interest, without having a medical indication? Or is inaccurate DTC the only way?

I'm particularly interested in the sequencing itself being as accurate as realistically possible and less so about the company providing fancy interpretation/reporting due to the fact I would speak with a professional as mentioned anyway.

I know this might be silly and I understand it's unnecessary and maybe pointless, but I would just like to know if it is even a possibility in general

I wanted a fitting way to store my whiteboard markers at our genetics department.

The model is a right turning double helix depicting the DNA backbone. The markers take the place of the nucleotides connecting the two strands of the double helix together.

For those interested, I have uploaded the files here:
https://www.printables.com/model/1826655-dna-whiteboard-marker-holder

Hello,

I am trying to gathering information for my wife regarding JAK1 gene mutations and autoimmune conditions. If anyone on this sub has a JAK1 mutation, or resources / information regarding an autoimmune condition that is related, any help would be greatly appreciated.

She has been through quite a terrible few years, and after complex autoimmune and gene testing, done in our home state AND at Mayo Clinic Rochester - her specialists have determined that she has a Gain-of-Function JAK1 gene mutation that is causing her eosinophils to over produce, move to strange places in her body, then release their "attack" chemicals. Her body is in a constant state of attempting to contain these chemicals, and builds scar tissue around them. This tissue is literally everywhere in her body "in-between" systems. So in her pleural cavity, facia surrounding her organs etc. because the tissue is fibrous, it cannot be easily seen on modern day imaging(CT, PET etc.).

Her specialists are a bit stumped at this point. While they have identified her mutation, they have not been able to correlate it to a specific condition.

I am seeking any information that you may have regarding a JAK1 mutation, or if you have been on a similar journey, do you have any resources that have helped you with a complicated diagnosis such as this? Hoping to avoid a future life threatening surgery due to this tissue growth, as she has been through enough of those already.

Thank you so much in advance!

​

I’m confused and a little worried about a marriage proposal because of the couple’s height.

Bride: 4'11"

Groom: 5'3"

Groom’s father: 5'11"

Groom’s mother: 4'10"

Bride’s father: 5'6"

Bride’s mother: 5'6"

My main concern is whether their children are likely to be very short as well. I don’t want my future children to face difficulties or feel insecure about their height because of my decision.

I understand that children’s height depends on genetics from both parents as well as other factors, and it cannot be predicted exactly. But I’m still worried because both the bride and groom are quite short.

How much should parents’ and grandparents’ heights be considered when estimating a child’s adult height? Would you consider this a reasonable concern when deciding about marriage, or am I overthinking it?

Hi everyone,
My little baby girl is one month old. She was born full term through an emergency caesarean section without fetal distress during labour. When she was born she spent some time in the NICU and was found to have feeding difficulties- she had a poor sucking and swallowing reflex and would either tire out too quickly or wasn’t able to cope with the flow of the teat. She was also found to have abnormal recoil reflex. Otherwise she was healthy with good birth weight.

She underwent all sorts of tests to determine the cause of her problems including genetic testing and was found to have a chromosomal abnormality as follows:

“ISCN: ar[GRCh38] 1q23.324.2(163648013_168348665)x 1

SNP microarray testing revealed a female pattern with a heterozygous, interstitial loss of 4.7Mb at 1g23.3g24.2, which involves 27 protein coding genes and 8 disease associated genes, including the haploinsufficient gene PBX1 (OMIM
#617641).”

The clinical geneticist informed me that this was a rare chromosomal abnormality and there is a high risk of renal tract and kidney abnormalities associated with this condition, along with learning difficulties, developmental delays, feeding and muscle tone problems and congenital heart defects.

I did some reading on this gene deletion and the problems associated with it but didn’t get a lot of clarity on the phenotypical presentations.

Does anyone have any advice/words of reassurance regarding this condition? How severe are the developmental delays and are children born with it expected to catch up with their milestones? How long do the feeding issues typically last for? Do they get better as you introduce solids?

My entire family (grandparents, parents, and sisters) are famous for their thick, dark, curly hair and Slavic appearance, but I am a natural blonde, with straight hair and Asian eyes. I am 100% biological. Explain how this could happen?

1. Is there a way to reassemble ROH fragments >0.5 MB in samples which have been fragmented due to short-read in both modern and ancient samples?

Will a trio-exome in CVS always pick up small mutations as placenta has more small mutations in the cells ?
Just thought about this as placenta often has smaller deviations?

https://genesdev.cshlp.org/content/early/2026/08/08/gad.353802.126

My family has a history of color blindness, and my parents told me that when I was born, they thought I had a high chance of being color blind. Turns out they were right.

But it seems to skip a generation - and is only on the male side. My father wasn't color blind, but my grandfather was. My great grand father wasn't, and there is some anecdotal accounts that his father may have been.

I have a daughter that isn't, but I'm aware that color blindness is carried on the X chromozone, but she could still be a carrier. So if she gives me a grandson, I've got money on him being color blind.

Source: Works in Progress

Hi there,

I (27 MtF) have a rare condition called 46,XY ovotesticular disorder of sexual development that causes me to have gonads that are both ovaries and testes. I know my disorder is caused by deletions in the upstream regulatory region that regulates SOX9 and I even went through direct to consumer wgs to have files that I could tinker with myself out of curiosity even though they did clinical wgs on me already in a medical setting to confirm the deletion along with aCGH and karyotype which showed no abnormalities surprisingly even though the wgs did. I was wondering if there is anyway that I could find a way to participate in research since I understand there are less than 500 cases of ovotesticular disorder in general ever reported and 46,XY karyotype is by far the rarest kind at 7% of all incidents. I really would like to contribute to science and the understanding of sexual development and I was wondering if any of you knew where I could find a way to get into that?

Thanks for reading!

I am just wondering, because I have seen people on things like 23 & Me post where they are like 0.2% of something, and somehow it genuinely looks like they are like at least half of that in phenotypical terms.

And when I ask about this question, it doesn't mean phenotypically only, what about other things like muscles or if different ethnic groups have different hormones, what about that?

E.X. If a European had some trace African, instead of looking it, maybe they get the extra tendon in their leg or something like a myostatin deficiency? Maybe if an Asian person had trace European, they could carry the enzyme for lactose tolerance? (I think they might already have the enzyme, but idk).

Btw, I do not know how to appropriately ask this question, so if it comes as weird or anything like that, I will take this down if asked.

Hi all, I wanted to share my extremely weird results maybe someone can find some clarity in this, I haven’t been able to find any experiences with the same results. My NIPT was drawn twice, first time was because of low fetal fraction at 10 weeks then 12 weeks it came back atypical. Genetic counselor said there were multiple markers on multiple chromosomes. Baby seems healthy other than 3.2 NT scan at 13 weeks 4 days. Genetic counselor and OB both think that I could be the reason of the markers and baby could be perfectly fine. They want me to do a study to check e for cancer because it has happened in the past that multiple markers appear when the maternal factors in. I had a CVS done 2 days ago and should be getting FISH results tomorrow. Any input or feedback? Freaking out and truly am lost.

Update 08/07- FISH results came back normal! Baby is healthy so far! Waiting for the more in detail results in two weeks but the rapid ones are good and found out we are expecting a baby girl :)

Update 08/18- our genetic counselor called us back with the full Karyotype of the CVS and gave us some really gutwrenching news of 50% of the cells that they test tested came back positive with T21 and the other 50% were completely normal so they sent me for an amnio at 16 weeks which was Thursday, August 20 and I should be getting a FISH result on Monday but seeing how the last one resulted with the CVS I feel like is really pointless to feel confident with a clear rapid result and we just have to wait for the full karyotype in two weeks. The babies NT was measuring 2.2 at 15 weeks five days and that was reassuring and they said that her scans look good except for a light in her heart, but they referred to that as having like a mole that it’s nothing to worry about but everything else looked really good feeling very worried, very anxious and completely and disastrously emotionally exhausted to say the least, I feel like I’m crying and just paralyzed and fear and thoughts and incessantly referring to Reddit for other community posts and trying to find similar experiences. Hoping for any feedback good or bad while we wait for these results to come in, which seems like a never-ending nightmare.

Update 08/24 - we got a callback from her counselor this morning about the FISH results and she said that they came back “normal”, now this obviously gave some sort of hope but seeing as the CVS rapid results came back normal as well and then we got hit with the full results of it being 50% T 21 and 50% normal. We’re kind of just waiting for the other shoe to drop with the full results. She said that a FISH result that indicated any kind of T 21 cells if it’s under 20% then it would be non-reportable and which just come back normal. So we don’t know if there are any cells in there. They just can’t report on it until the full karyotype comes back in the next 10ish days. If there’s any feedback or some other stories, please share, we are emotionally exhausted.

Apparently R141H/R141H has never been observed and is believed to be incompatible with life. But PMM2-CDG is an autosomal recessive disorder, meaning you need pathogenic variants affecting both copies of PMM2 to develop the disease.

So… when does someone actually get PMM2-CDG?
Is it that R141H combined with another, less severe pathogenic PMM2 variant can cause PMM2-CDG because there is enough residual enzyme activity to survive, whereas R141H combined with another very severe variant, particularly another R141H, may be lethal before birth?

There also seem to be many different pathogenic variants in PMM2, so I’m realizing that the usual “two mutated copies = affected” explanation is much less straightforward than I originally thought.

Ciao a tutti, spero che qualcuno con esperienza nella spedizione internazionale di campioni clinici/di ricerca possa aiutarmi.

Abbiamo due campioni di DNA genomico fetale umano estratti e conservati presso un laboratorio ospedaliero in Italia. Un laboratorio di genetica clinica statunitense potrebbe eseguire il sequenziamento dell'intero genoma su questi campioni, quindi sarebbe necessario spedirli dall'Italia agli Stati Uniti at VariantyX lab.

Il DNA è già stato estratto: non si tratta di sangue, tessuti, cellule, materiale POC (Point-of-Care) o campioni infetti.

Prima di procedere, vorrei capire come viene gestita normalmente questa procedura nella pratica:

Chi si occupa solitamente della documentazione doganale: il laboratorio mittente, il laboratorio ricevente, FedEx/DHL o un corriere specializzato?

È relativamente semplice importare DNA genomico umano purificato negli Stati Uniti?

Avete spedito di recente DNA umano purificato dall'UE agli Stati Uniti?

Hai utilizzato FedEx/DHL o un servizio specializzato come World Courier/Biocair?

Avevi bisogno di una fattura commerciale/proforma, di una dichiarazione di utilizzo finale o di una dichiarazione dell'importatore?

Il laboratorio statunitense ricevente ha fornito la dicitura/i documenti necessari per la dogana?

Qual è stato all'incirca il costo della spedizione?

Consiglieresti vivamente che i due laboratori si coordinino direttamente piuttosto che lasciare che sia il paziente a organizzare la spedizione?

Si tratta di campioni clinici insostituibili, quindi non spediremmo nulla finché il laboratorio ricevente non avesse confermato la procedura.

Grazie mille per qualsiasi informazione pratica.

Female with X linked condition -  Osteopathia Striata with Cranial Sclerosis (OSCS) caused by mutation of AMER1 gene. Searching for more information about this gene mutation and would be glad to have more insight of how this gene mutation is presented in males.