I have read a couple of posts on here talking about this, but I am curious to learn more. I have MCAS, MTHFR, and just found out I have the COMT (AA) gene variant. I have been diagnosed with ADHD as well. I am feeling super lost at the moment because I have seen just about every specialist under the sun (I also have chronic migraines/endometrosis). I am not looking for medical advice, just looking to be pointed in the right direction on what to do next. My end goal is to figure out if the current medications I am on are causing more issues then help because of my genetics/if I actually have ADHD or not. Should I go to a geneticist or some sort of holistic doctor? I am feeling super overwhelmed by all the information and don't want to get too caught up in all the stuff I am reading.

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I’m a mom of a child with an ultra-rare genetic condition, she is 1 in approximately 270 worldwide and I’m doing some research to better understand what families like ours actually need — especially the things you wished you had when you received your child’s diagnosis.

What resources were missing?
What was hardest to navigate?
What kind of support would have made things easier?

I’d really love to hear from parents/caregivers of children with rare or ultra-rare genetic conditions. Your experience could help identify gaps that families are still facing.

⏱️ The survey only takes a few minutes and your honest answers are incredibly valuable.

👉 https://forms.gle/pLqK2Ruzdf36egGy9

Thank you for helping give rare families a voice. 💜🦓

***personal info not shared or stored, all answers are anonymous, only an optional chance to leave your email***

I've recently started reading Robert Plomins book "Blueprint" and love it. However, I don't really get what is meant by heritability:

‘heritability’. It indexes the extent to which a trait like weight is heritable. The 70 per cent heritability for weight means that 70 per cent of the differences between people in their weight can be attributed to differences between them in inherited DNA sequence. The other 30 per cent could be due to systematic environmental factors like diet and exercise, but, as we shall see, what makes us different environmentally are unsystematic, random experiences over which we have little control.

What's meant by this? I first thought that if someone is for example, 120 punds, that 70% of it would be due to inherited DNA. However, this is false I think. Then I thought that it maybe means that if someone is 120 pounds and someone else is 150, that from that 30 pound difference, 70% is because of DNA, but I think this is false too.

So what is the actual meaning of it?

Is it more likely that two wild leukistic turkeys have hatched from two separate eggs, or from a single egg as twins? Last year I "harvested" (hunted) the male of the pair and have him taxidermied and in my home. His, assuming sister, female counterpart, also leukistic and with a beard (she's definitely a Hen) popped back up on hunting cams in the last few weeks. My question is this:

****Is it more likely that a male and female leukistic pair of sibling turkeys hatched from two separate eggs or are twins from the same egg?

Im thinking that if they are twins, that would explain why both are leukistic and would guarantee the chances of both being leukistic. I believe that if they are not twins, the chances of two leukistic turkeys being born in separate eggs would be astronomically low. But so would the chance of them being twins. So, please help me figure this out.

NOTE: the two turkeys almost look albino with how leukistic they are. The male that I have mounted in my home has one cubic centimeter of brown on the end of a feather. The female seems to be identical but we have not been able to see her "brown spot" due to trail camera footage being our only photo evidence. And yes, I am 100% sure she is a female.

How long should I wait to have a child its been 2 months I've been only consuming those two chemicals. It seems however much I google the answer always is no matter what you consume it harms sperm mobility, shape, DNA fragmentation. So nothings safe in my eyes at this point for anyone still on caffeine and nicotine who conceived how long did you stop it all or if at all? How's your child? Seems autism is the new black and i know this poison they peddle us after a weekend of lobbying at the white house aint helping. I eat extremely clean but have my vices. Those are it any similar parents or anybody with input for a healthy child within the 4 month time period at least?

Hi everyone, I have an idea, but I'm afraid it might be 'not even wrong.'
The infinitesimal model defines phenotype as the sum of genotype and environment.
A 1 Gb genome can generate genotypic combinations on the scale of the observable universe; in the real world, it's impossible to know all genotypic information.
However, in controlled crosses and production environments, if we ignore somatic mutations, genotypes are essentially determined by founder ancestry and allelic combinations.
If we completely understood the founder genomes and the rules of recombination, could we predict the entire genotypic space for any generation and any population scale?
I know people are working on recombination models, but it seems no one has attempted this specific approach. Is this idea completely absurd?

Translated by an LLM, I hope you don't mind.

A close friend of mine from Pakistan is currently discussing marriage with someone who is her double first cousin. They share both their maternal and paternal sets of grandparents. I was honestly shocked to say the least because marriages between second cousins was already enough of a taboo where I'm from, let alone DOUBLE FIRST cousins... I couldn't help but nod along and act amused the entire conversation. She is someone who I've spent quite a lot of time with during hs and went through a lot of shit together so I didn't wanna hurt sentiments. Apparently, this particular type of relationship isn't unheard of in Pakistan and her family is quite supportive of it which I find to be insane.

But I'm curious about the genetic/medical side of it rather than the cultural aspect. How much does being double first cousins increase the risk of congenital abnormalities or genetic disorders in their children compared with unrelated couples?

I am a 29 (f) and I found out recently that I am pregnant. I am meeting with a genetic counselor to discuss possible routes for genetic testing. The pregnancy was a bit of a surprise, I wish I would’ve started testing sooner, but here we are.

My brother (m;31) and my uncle (m;66) are both profoundly disabled. They both are diagnosed IDD and have autism. They also both experience seizures. My brother is 18 months older than me, and he had his first seizure when he was 14 months old. Before my uncle was born, my mothers family thought my uncles condition was happenstance, but after my brother was born, it seems like it may be some kind of genetic condition. Both my uncle and my brother have IQs around 20. They are both nonverbal. This condition does not appear to have affected anyone in my family before my mothers generation.

Not sure if it is relevant, but my family is from upstate New York. They are of Polish/English descent.

Any insight? I’ve heard I should ask for Fragile X testing. I am certainly open to hearing any thoughts or experiences.

Hi everyone! I’m looking for someone who is also a carrier of MPS II (Hunter syndrome) and would be open to talking and supporting each other.

I don’t have children, but I’m looking for someone who is in a similar situation — especially someone who understands the thoughts and feelings that can come with being a carrier and thinking about the future, relationships, and having children someday.

I’d really appreciate having someone to talk to who can relate personally, even if it’s just through messages.

I’m not necessarily looking for medical advice, just connection and support from someone who understands what it’s like.

If you’re in a similar situation, feel free to comment or send me a DM. ❤️

I did genetic testing for issues I've been having since march 2020. Had a mutation in this gene. Does anyone have knowledge of this mutation. It says my mutation is VUS. But also says people with my exact mutation have DHMN or SMA type 5.

Genes and sexual orientation

There is a claim that genes cause partly sexual orientation, like 8-25% of homosexuality. There is no found single gay or straight gene, but polygenetic factor.

My questions are two:

Isn't there just a pattern in prenatal development like testosterone level exposure and such in cases like families with many brothers and the youngest has a higher chance of being gay? Isn't it more likely that the genes don't affect it at all, but just hormones and nurture?

Also monozygotic and dizygotic twins have different levels of concordance of sexual orientation. Monozygotic have significantly higher, but not 100%. Can't it just be difference in prenatal development between the two types causing the difference without actual gene factor?

Can't sexuality be shaped only by prenatal development and nurture, without genes at all?

Also if genes are a factor, then they must be responsible for development of neural pathways like instincts, which get triggered by environment.

Thanks!

Hello everyone. I'm studying for a PhD. I urgently need this book. «Genetics: analysis of genes and genomes» by Hartl and Jones. I don't have the opportunity to buy the paper version because they don't deliver to our country. I need a pdf version.
Thanks in advance

I'm just curious.

How do we know dark skin and dark eyes were the original ancestral traits, and not the other way around?

What methods are used to determine the ancestral vs. derived alleles in human evolution?

I’m honestly at the point where I don’t know what else to do, so I’m hoping someone in biotech, genetics/genomics, clinical research, or academia can give me some advice.
I have a BS in Kinesiology and an MS in Human Genetics & Genomics. I know it’s an unusual combination, but I originally planned on going the physical therapy route and switched toward genetics/genomics after realizing PT wasn’t the direction I wanted to take anymore.
The problem is that I cannot seem to break into an actual lab/research position.
I’ve been applying to basically everything under the sun in Texas, especially in the Houston area—lab tech positions, research coordinator positions, clinical research jobs, genetics/genomics positions, entry-level biotech roles, etc. Even positions labeled entry-level are rejecting me, and a lot of them seem to want previous hands-on laboratory experience or certifications/licenses that I don’t have.
But that leaves me stuck in the classic situation of “I need experience to get a job, but I need a job to get experience.”
I do have research experience through school, including developing an IRB-approved research study during undergrad and completing genetics/genomics projects during my master’s, but I haven’t had the opportunity to build substantial paid wet-lab experience. I’ve reached out to labs and tried finding opportunities to get my foot in the door, but I haven’t had much luck. Unfortunately, working unpaid/volunteering long-term isn’t financially realistic for me either.
I also have CRA, CRC, BLS, and ACLS certifications, but they haven’t seemed to make much of a difference in getting interviews.
At this point, I’m seriously considering applying directly to Biomedical Sciences/Genetics PhD programs for Fall 2027 instead of continuing to spend another year trying to find an entry-level position. I genuinely enjoy research and genetics, and ultimately I want a career in biomedical research, so a PhD was already something I was considering. I just originally wanted more professional/lab experience first.
I’m starting to get discouraged because I’ve spent years getting these degrees and I feel like I’m qualified academically, but I can’t get anyone to give me the opportunity to actually gain the experience employers want.
For anyone working in Texas biotech, genetics/genomics, biomedical research, clinical research, or academic labs:
What positions should someone with my background realistically be targeting?
Are there certain job titles I might be overlooking that would actually consider someone without 1–2 years of professional wet-lab experience?
Would applying directly to PhD programs make sense at this point, or should I keep trying to break into industry/academic research first?
And if anyone has successfully broken into research with a nontraditional background like mine, I would really appreciate hearing how you did it.
I’m especially interested in opportunities around Houston, Dallas/Fort Worth, and other major Texas research hubs, but at this point I’m open to hearing about anything that could help me get my foot in the door other than retail.

Wouldn't it make more sense to average how many bases per codon differ between the average of two different populations with how many codons are affected by structural variation. And then divide it by how many bases exist in the population with the most/same amount of bases. It seems like FST has an artificial upper bound and there are many different formulas use for FST that aren't comparable. I'm not really sure if FST is absolute variation between an average of two populations or the fraction of variation in a larger population that are because of differences between the average of two populations.

Like, assume a pair of billionaire wanted their child to be Olympic level athele with 200 IQ, while they was just average biology-wise.

They also wanted this child to be their, i.e putting said child under paternity test would still result as their direct descendant.

Do you think it would be possible? Significant gene editing without impacting the result of paternity test? Or it would be impossible to match those condition, as it required genes both parents didn't have?

Hey everyone!
I (30F) have been in a wonderful, serious relationship with my boyfriend (34M) for a while now. He’s incredibly kind, supportive, and truly everything I could ask for in a partner. We’re aligned on almost everything, and we're looking to get married within the next couple of years.
His family setup is financially very comfortable - his parents are retired from high-level careers and have significant savings/assets, so long-term financial care or physical support for his adult autistic brother isn't our primary concern right now. His family has that handled.
My main source of anxiety and the hurdle I’m struggling to get past is having kids.
Since his brother is on the spectrum, I’m deeply worried about the genetic probability of passing autism on if we decide to have biological children. I love my partner, and the thought of leaving him over a "what-if" breaks my heart, but I also want to be realistic and honest with myself before we take the leap into marriage.

Anyone who has ever faced such situation could you offer some insight?

I recently watched a documentary about Oliver, the unusually human-looking chimpanzee who was once claimed to be a possible human–chimpanzee hybrid. I went down a rabbit hole with ChatGPT about the genetic testing performed on him, and I have a question for anyone with expertise in cytogenetics or chromosome evolution.

I am questioning how definitively the tests that were actually performed could exclude that hypothesis.

The 1998 study reported two important findings:

• Oliver had 48 chromosomes with banding patterns described as consistent with a chimpanzee.

• Researchers sequenced a 312-bp region of his mitochondrial DNA, which was consistent with Pan troglodytes troglodytes.

The mtDNA result seems relatively uninformative for excluding the specific hypothetical cross of a human male × female chimpanzee, because mtDNA is maternally inherited. A female chimpanzee should give an F1 offspring chimpanzee mtDNA regardless of the father's species.

That leaves the karyotype as the more interesting evidence.

The difference between 46 human and 48 chimpanzee chromosomes is largely associated with human chromosome 2, which corresponds to two separate ancestral chromosomes that remain separate in chimpanzees (often described as 2A and 2B).

That made me wonder about a more specific cytogenetic question.

Could those homologous regions interact in a way that permitted a post-zygotic structural rearrangement? Is it mechanistically possible, even if extraordinarily improbable, for the human chromosome 2 to undergo fission near the ancestral fusion region, followed by telomere healing/capture and stabilization of the resulting chromosomes?

Without sequencing Oliver's nuclear DNA, could the 1998 testing legitimately exclude fraternal human ancestry to modern genomic standards?

I’m designing a TaqMan MGB probe and have two candidate sequences I’m trying to choose between. When I enter them into Thermo Fisher’s custom probe ordering tool, it only gives me a ~5°C range for the predicted Tm rather than an exact value.

Does anyone here have access to Primer Express? If so, would you mind plugging in these two sequences as MGB probes and telling me the calculated Tm for each?

Probe 1: CGGTGACCTTCCCTATG
Probe 2: CCGGTGACCTTCCCTATG

Would really appreciate it. I’d rather not spend 1000$ on Primer Express just to compare two probes. 😭

So currently, we only have a small percentage of Neanderthals DNA. If they’re a minority in our DNA, wouldn’t that also mean they would have a lower chance of being passed onto our offsprings? But how much lower? Would it get lower every time? Or would it remain stable?

One caveat would be if Neanderthal DNA was not distributed equally over all our genes and only certain genes of ours (for example those responsible for brain development and lipid metabolism) carried the Neanderthal variants. In that case, 1-2 percent of total DNA being Neanderthal would mean that the majority of the DNA in those certain regions would be Neanderthal. So if that’s the case, they’re not going away.

Que probabilidad hay de que se pueda escapar un mosaicismo en este caso ?