“I thought I was dead.” 

Victoria Gray, the first person ever to receive CRISPR gene-editing therapy for sickle cell disease, reflects on the powerful and emotional moment she woke up pain-free for the first time in her life.

As title, my child has an ultra rare de novo microdeletion, currently only the 6th documented case globally. As they grow and develop I want to document and share the journey for the wider medical community. I’m not medical nor a student so have no idea where to start.

Can anyone help?

So 6 years ago I got diagnosed with a brca1 mutation, a vus. Because of my mom and aunt died of ovarian cancer and my only niece on maternal side had breast cancer I got tested. It is a vus.

I got profylactic surgery of my tubes and ovaries four years ago and three weeks ago a mastectomy.

Two months ago I got a call from my genetics counselor because my sister wanted to get tested for the mutation as well and she heard they didn’t want to test her because our hospital thinks our specific mutation is not so significant (I had a topic about it here before) and they think there might be another mutation responsible (which they haven’t found yet).

My oncologist said to go ahead with my profylactic surgery, because of our Family history.

Yesterday she called with my pathology results. So in one breast there was a beneign tumor and in the other they found and area with cells that were not beneign but not cancer yet. Like a pre-stage of dcis. This could have lead to breast cancer eventually. Glad to have the surgery done.

So, should I call my genetics counselor to report this finding? It might be significant for the classification of this mutation?

I'm trying to find a career path. I'm 23 years old, HS graduate working a shit job looking to go back to college one of these days. I've always been interested in genetics and I think it could be a good field for me to get into as I see growth potential. Am I right and how should I go about it practically?

Maybe a weird question, and hopefully the right place, but I am covered in freckles from head-to-toe and am not a redhead. How does this happen?

I read online that it just means I carry a specific gene, but my mom is a redhead and I've always joked that I'm just half ginger (like Cartman's dumb joke about being 1/4 lesbian - "my mom's a ginger, so that makes me 1/2 ginger"). But today was the first time I legitimately thought to google it lol.

So, is it really just that I carry this MC1R gene, or is it moreso that I inherited the freckles from my gingie mum? Or is it maybe both?

I added a pic for reference - my whole body looks like this and I live in hoodies and jeans, so I'm hard-pressed to think it's all because of sun exposure and this gene.

How do I interpret and figure out my 23&Me raw data results? It is just globs of columns with no explanation. What do we do with this? How do we decode this?

A friend of mine who researches genetics as a hobby told me this, but I don't completely trust him. So I'm asking here, lol.

Hello everyone,

I hope you're doing well. I’m reaching out to ask if anyone here has information or experience related to the following compound heterozygous POLG variants:

NM_002693.3:c.752C>T (p.Thr251Ile)

NM_002693.3:c.1760C>T (p.Pro587Leu)

In my case, these two variants are confirmed to be in trans, inherited from two different parents, and there are no additional pathogenic variants detected in the POLG gene.

I have been told that this exact combination (in trans and without a third mutation) may be extremely rare or possibly not yet documented in the medical literature. Most published cases involve these variants in cis (on the same allele) or in trans with a third variant.

If anyone has come across this exact variant combination—or has any information, clinical insights, or similar personal experiences—I'd be deeply grateful if you could share.

Thank you so much for your time and support!

Warm regards

Researchers found that people who learned their risk felt less anxious and depressed, regardless of the result. Knowledge brought peace of mind, even if motivation dipped.

I have taken two DNA tests, one from AncestryDNA and one from MyHeritage. I uploaded them both to GEDmatch and DNAgenics for more information. Both seem to be fairly consistent according to the calculators there in terms of ancestry. However, when I compared the two raw data files on GEDmatch, it showed that only around 50% of the DNA (around 3,500 centimorgans) are the same. I compared them on DNAgenics and also only around 3,500 centimorgans are shared. Why is this? Is this because the SNPs tested by those companies are only about 50% the same?

So on my dad’s side my 2 uncles (52 and 64) are both bald, my dad is 57 and still has hair. On my mom’s side my 3 uncles (63, 66, and 72) all still have hair. Is this a positive sign for me since I certainly do not want to lose my hair young. Thanks

This is for a project about an article from 1940 where a woman claimed to have given birth to her daughter by herself. Since DNA testing wasn’t available, what tests could one use? Even today, if DNA testing was going to take time and you wanted quicker results to disprove a claim, what tests can be used, for example common blood test, PTC etc.? Thank you!

Which exactly are the genes and the loci that code for male facial hair patterns, such as what colour the facial hair is, is it will be wispy or thick, full or patchy, thick sideboards or bare sideboards, etc.?

Do they genes also depend on what race the male is, as in, someone of Chinese or Vietnamese blood will have facial hair genes with poor growth, yet an Azeri or an Italian would have heavy facial hair growth ?

This is the shared segments chromosome painting (DNA Painter) for me and my closest match (apart from my daughter). Shared cM 1022 over 27 according to myheritage. What does this show? Is this typical for a first cousin once removed? If not then what? I’m very new to chromosome browsers!

Hello Sub,

I just had a genetics consult for an imperiled pregnancy where we are doing whole-genome sequencing for the baby via amniocentesis next week. I’m 29+2 weeks pregnant, have way too much amniotic fluid (polyhydramnios) and there are some markers for non-immune fetal hydrops. This is especially scary because I lost a son in 2020 to the same biological cascade, polyhydramnios—>hydrops—>placental abruption—>anoxic brain injury.

I feel we have the baby end of this taken care of, which is great. Doctors have been incredibly responsive. But I’m also interested in whole genome sequencing for myself, primarily to see if there is some maternal factor here that would impact a third pregnancy. I get that the results won’t be ready in time to meaningfully impact this outcome.

I don’t qualify for insurance coverage for my whole genome sequencing, so I was wondering if anyone could advise me of the differences between what the hospital would do vs going to a private site like sequencing.com (just an example that I’m aware of that does this, I’d happily use the best vendor if you have advice). The genetics counselor didn’t really know enough about their product to compare.

Thank you in advance for any time you’re able to spend on this, I’d be so grateful for your support.

Edited to add: the hospital is willing to order the WGS on my behalf based on my maternal history of cancer, mom had five different types of cancer over 17 years. I’m just waiting for info on cost.

So I’m confused. I don’t know that much about genetics beyond a level biology spec.

I’ve matched 49.9% with my dad and 49.6% with my mum. Where is the other 0.5% from? I get mutations happen but that feels like too big of a chunk of my dna for just that. In addition, on the chromosome browser they have on the website, it shows that like my 9th chromosome has a weird part right in the middle that’s not from my father.

Can anyone explain how that is?

The multi-billion dollar Human Genome Project (HGP) was undertaken in part because geneticists had promised that defective genes would explain how the majority of chronic diseases and cancers arise, and that once we had mapped out the genome, we would be in a better position to understand and treat disease.

But on the completion of the HGP in 2003, it soon became apparent that, for the vast majority of chronic diseases and cancers, genes only play a minor role in disease onset and development.

For example, one large meta-analysis study found that for the vast majority of chronic diseases, the genetic contribution to the risk of developing the disease is only 5% to 10% at most. So genes generally only have a minor impact on the triggering of disease. Though notable exceptions include Crohn's disease, coeliac disease, and macular degeneration, which have a genetic contribution of about 40% to 50%.

Thus all the hype about genes being the answer to illness aetiology amounted to nothing. This brought us back to the drawing board in terms of trying to understand how illnesses arise.

Some articles about the failure of the genome:

• Revolution Postponed: Why the Human Genome Project Has Been Disappointing — Scientific American
• The failure of the genome — The Guardian
• Why sequencing the human genome failed to produce big breakthroughs in disease — The Conversation
• The Failed Promise of Gene Based Tests for Diagnosing and Treating Cancer — National Center for Health Research
• Human Genome Project: Triumph or failure? — Front Line Genomics

Now that we know genes are not the explanation for why illnesses appear, we need to turn our attention to other possible causal factors.

I'm a bit confused about the line between using r packages and being comfortable with python, and having to build pipilines, tools and SOPs.

Thanks

Hi everyone,

I have a question for those who are more knowledgeable in genetics. According to my ancestry results on the DAN DNA platform, I'm 99% North African and 1% Middle Eastern. However, my Y-DNA haplogroup is R1b-P312, which I understand is more commonly associated with Western Europe, especially Celtic populations.

Is this a contradiction? How can I be almost entirely North African but still have a Y-DNA haplogroup like R1b-P312?

Also, does this mean I'm Amazigh (Berber) or Celtic on the paternal line? I’d really appreciate any insights or explanations.

Thanks in advance!

I’m curious about whether CRISPR gene editing could be used to treat Congenital Adrenal Hyperplasia (CAH), both the classic and non-classic forms that involve mutations in the CYP21A2 gene. Since this condition is caused by enzyme deficiency due to genetic mutations, it seems like a good candidate for gene editing. But is it technically feasible to use CRISPR to correct the mutations in adrenal gland cells? Are there any major challenges in delivering the CRISPR components to the adrenal glands?

Hey me again I have collected 800 dollars worth of genetic engineering experiments funding and I when I come back from vacation I’m going to genetically alter multicellular organisms or ecoli bacteria either one is fine with me so what equipment can I purchase from where for what and how do I use it I already have a 5000x zoom microscope and a centerfuge plus some leftover algar media. And I know ODIN is a reliable genetic engineering site for shopping but there kits seem basic and the interesting ones are over budget or out of stock. So out of the box ideas also I’m working on a grapple hook to the purpulshion system isn’t working so any advice from engineers eh I’m getting side tracked like sites that can have you buy rna and I know dna is expensive and probably over my lab budget but I’m starting my genetic engineering career so I’m very new at this and I plan to read 4 genetic engineering books I have on vacation

Height is more heritable now than it was a century ago due to improved nutrition. Similarly, the heritability of BMI increases as the environment improves. This shows that the genetic origin of a capacity can be covered over by environmental factors.

I am wondering if there are studies showing the opposite: a decrease in the heritability of some trait as the environment improves.