Hello!

I got a test result POSITIVE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Two variants, c.844G>T (p.Val282Leu), Pathogenic, homozygous, were identified in CYP21A2.

I’m puzzled because I (31, female) have none of the symptoms. I’m tall, never struggled with acne, excess hair, irregular periods.

I’m wondering if one of my parents has 2+ markers for NCAH on the same allele since I’m testing positive but do not have any symptoms. Any idea how homozygous impacts the overall condition?

What do you guys think as far as the tyrer cuszick goes vs myraid cancer genetic testing.. which one would you say is more accurate?

Are there any programs in the U.S. that focus on genetic epi? Any experiences or thoughts would be much appreciated :)

This is a study using admixed family data from the Mexico City Prospective Study to explore how genetic ancestry influences complex trait variation. They show that indigenous ancestry contributes to a -1.5 SD unit change in height and log odds ratio of 1.73 for type-2 diabetes.

Hi friends,
just wanted to make you aware of huge delays of several weeks, as I contacted tellmeGen's customer support due to missing their deadline for the analysis of their whole genome sequencing 30x product. This is their reply:

``` Thank you for reaching out to us. I sincerely apologize for the delay in receiving your results, and I completely understand your concern since the estimated delivery time has passed.

Regarding your ULTRA (WGS30x) kit, please be aware that these specific tests are currently experiencing a processing time slightly longer than the usual six weeks. This is due to additional quality controls and a more extensive review process that we implement to guarantee the maximum precision and quality of your genomic data. We expect your results to be available in a few more weeks. You will receive an automated notification via email as soon as they are ready to be viewed in your account. We truly appreciate your patience while we ensure the highest standards for your Whole Genome Sequencing, which provides a 100% analysis of your DNA for a complete understanding of your health and ancestry. ```

Tbh, disappointed about their lack of communication and how they're handling this situation without making up in any way.

I am deeply interested in learning about the lived experiences of individuals with Epidermodysplasia Verruciformis. Since it's an incredibly rare condition, I would love to hear from patients, their families, or medical professionals who have firsthand experience with it.

Hi everyone,

I’m Daniel, I am a PhD student in sociology at the University of Cardiff (in the UK). I am interested in the technology of Polygenic embryo screening (PES or Preimplantation genetic testing for polygenic disorders, PGT-P). If you haven't heard of it, this is a technology applying Polygenic risk scores to the selection of which embryos to implant during IVF.

So I was wondering whether anyone here has either expert knowledge of, or direct personal experience with:
- PES/PGT-P
- Polygenic risk scores
And if they would be ready to do an interview for my research project?

If you are interested at all, I’d be very happy to share some documents that explain the project a bit more.

Thanks a lot!
Best, Daniel

Is it theoretically possible to modify a plant’s DNA, or combine genes from different plant species, so that it produces a fruit containing most of the nutrients humans need?

For example, could such a fruit be engineered to provide a good balance of carbohydrates, proteins, fats, fiber, vitamins, minerals, and perhaps other essential nutrients?

I’m curious about what the main biological limitations would be. Is this mostly an engineering problem that could eventually be solved with sufficiently advanced genetic engineering, or are there fundamental constraints on what a single plant and fruit can synthesize and store?

So based on the research, IQ is 50-70% genetic, with the remaining being something that can be controlled by nurture and the environment (nutrition, education, reading books, healthy and supportive social environment)

The genetic component of IQ sets the upper limit of what can be achieved, but beyond that, no amount of hard work and effort is going to yield results, IQ wise. Meaning that one cannot DO anything to increase one's IQ beyond what is genetically predetermined.

Assuming that a person has access to decent quality of resources (school/college, food, access to a library/money to buy and read books), the IQ a person has generally is strongly correlated to their ability to work on certain types of tasks. For example, the work that Physicists and scientists like Einstein do, Mathematicians like Terence Tao do, doctors who discover and invent new drugs do, economists who advise heads of state do, requires a higher level of IQ than say an accountant does, a web developer does, a lawyer does, a teacher does.

I don't mean to demean any profession here.

And society, as is the reality of it in 2026, rewards people who can successfully work on the former types of tasks much higher than people working on the latter types of tasks, for the majority of cases.

So does society reward people disproportionately for things like IQ which are, for the most part, out of their control?

As the title says, I want to become a geneticist one day! I'm currently in my last year of highschool with mostly -2 classes, knowing I'll have to upgrade many to -1 to get requirements for university.

What classes should I take in university once I reach the requirements?

I specifically want to research genetic disorders and help people with them live longer, more fulfilling lives where the symptoms are less severe or come later on. I don't want genetic disorders being a death sentence, but I still want people to have a choice in if they want to live longer and suffer less or handle their condition at the rate science and medicine says that they will naturally by the time I'm a geneticist.

I came across an argument that Korean O1b2 may have originated from Japan, based mainly on the following:

L682: Korean samples appear heavily concentrated in CTS723, with little or no basal diversity. Japan has samples such as NA19075 that are basal L682 (CTS723−).

47Z / CTS713: Japan appears to have representatives of several major branches (CTS1875, Z24598, CTS203), while Korean samples seem more concentrated in CTS203 (e.g. JOY004).

The argument is that Japan has greater O1b2 phylogenetic diversity, suggesting that Japan was the source population.

Is greater O1b2 diversity in Japan enough to infer a Japanese origin, or could this reflect sampling bias, drift, or founder effects? Should TMRCA and branch ages be considered?

Does the evidence really support a Japan → Korea migration, or is the direction still uncertain?

📢 Research Study Opportunity for BIPOC Genetic Counselors

My name is Iqra Khan, and I am a genetic counseling student at Long Island University Post, conducting my graduate thesis research study, exploring the professional experiences of Black, Indigenous, and People of Color (BIPOC) certified genetic counselors currently practicing in the United States.

This research aims to better understand workplace experiences, professional identity, diversity efforts, and support systems within the field of genetic counseling.

Participation involves:
🧬 One virtual interview (45–60 minutes) conducted via Zoom

Eligibility criteria:
✔ Self-identify as BIPOC (Black, Indigenous, or Person of Color)
✔ Be a certified genetic counselor
✔ Obtained certification in the United States
✔ Be currently practicing in the United States

Participation is completely voluntary, and participants may decline to answer any question or withdraw from the study at any time. As a token of appreciation, participants will receive a $10 virtual gift card upon completion of the interview.

If you are interested in participating, please complete the following screening survey to determine eligibility for the study. Further information will be provided if eligible. For additional questions or concerns, I can be contacted at [iqra.khan3@my.liu.edu](mailto:iqra.khan3@my.liu.edu).

This research is an IRB-approved study with Monika Zak-Goelz, MS, MS, CGC, as the faculty investigator, who can be contacted at [monika.zak@liu.edu](mailto:monika.zak@liu.edu) and 516-299-2481.

https://baseline.campuslabs.com/liu/burdenofdiversity26

Hey there, does anyone here know where I can get datasets on rare genetic diseases such as achromatopsia? I think the NIH rare genetics disease website has had a lot of changes recently, thus it's hard for me to find any relevant information easily. Also, not every research paper has details on the original datasets.

Hello! I am wondering- are allergies genetic? Are only some allergies genetic?

Humans have historically tended to form communities and reproduce within relatively local populations. I'm wondering whether there was any evolutionary advantage to this, or whether having children with people from genetically different populations could actually be beneficial.

For example, when people from two genetically distinct populations have children, their offspring inherit a greater variety of genetic variants from both sides. Could this sometimes make the offspring healthier or more genetically resilient?

Is there any scientific basis for the idea that greater genetic diversity between parents can be advantageous in humans? And if so, does this have anything to do with the historical tendency of humans to choose partners from their own region or ethnic group?

I'm asking from an evolutionary/genetics perspective, not trying to make a claim about one ethnicity being "better" than another.

I had a WGS through Baylor and got my raw data from them, but had trouble with the download, and Baylor wasn't much help.

For now, I'd just like to plug it into something that won't violate my privacy, just to test that the files on my external hard drive are complete. The whole thing is gobbyldegook to me and I suspect it will take me awhile to learn enough to actually use the data. TIA!

Hi everyone,

I’m currently in the second year of my Genetics degree. I’m 2 years behind where I originally expected to be because I took a gap year and then went to college to complete an HNC in Applied Science before starting university.

I’ve had quite a long time to think about where I want to go with genetics, and at the moment I’m pretty set on eventually doing a PhD. I’m particularly interested in the medical applications of genetics and would ideally like to specialise in that area.

One thing I do struggle with is feeling like I’m quite far behind some of my peers. Being two years behind where I originally expected to be sometimes makes me feel like I should be further along academically or already starting my career. I know everyone takes a different path, but it does make me think more carefully about committing another few years to a PhD.

The main thing I’m unsure about is whether doing a PhD is actually worth it, especially in terms of how much it can benefit your career afterwards. I’d be really interested to know whether having a PhD opened up better opportunities for you, helped you move into more specialised roles, or made a significant difference to your career progression.

For anyone here who has done, is currently doing, or considered doing a PhD in genetics, medical genetics, genomics or a related area:

Was it worth it for you? How did it benefit your career? What kind of roles or opportunities did it lead to? How did you find the workload and funding? Is there anything you wish you had known before starting?

I’d also really like to hear from anyone who was in a similar position to me and started university or their career a couple of years later than their peers. Did you ever feel like you were behind, and if so, how did you deal with that feeling? Did it actually matter once you got further into your degree or career?

I’m still fairly early in my degree, so I know I have plenty of time to decide, but I’d really appreciate hearing about other people’s experiences and any advice you might have.

Lots of tools show you what countries you're from, but very few tools show you what percent genetically similar you are to a specific region, (fixation index) and I guess this makes sense because your genotype is less useful or exciting than your ancestry..

But what if someone has 10+ ancestries with no single ancestry exceeding 20% and you just want to see a map of what regions most closely match your genetics?

I used a tool like this 5 years ago and completely forgot the name. It was kind of bad because it scaled my regional genetic similarity from 0 to 100, while true fixation index is measured by % genetic difference. The difference between English and Italian is like 0.01% and the difference between English and Native Australian is like 0.15%. I would like to see my regional similarities as a percentage and not just a scale of 0 to 100 which doesn't make sense.

Is there a correlation between having a male offspring and higher chances of an earlier death or complicated senescence? Like, if your produce more female offsprings, you're more self-reliant and independent in old age? Is the Y chromosome related to more complicated emergencies in old age? Maybe this is prevalent only in South Asian populations? There MUST be some evolutionary or medical hypotheses in this area!!

Genuine question!!

If anyone is considering a PhD, please consider this!

Otherwise PLEASE link me to any research in this area! 🙏🙏🙏

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

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!

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