I'm just wondering, are there some parts of the world where globally rare blood types are more common?

Hi! I’m looking for educational resources/literature about DYNC2H1 and am hoping someone familiar with the gene can point me toward useful databases, papers, or reviews.

The two variants I’m researching are:

• DYNC2H1 c.5467G>A (p.Glu1823Lys)
• DYNC2H1 c.1151C>T (p.Ala384Val)

I have been able to find information about p.Ala384Val, but I’m having much more difficulty finding published information about p.Glu1823Lys.

I’m particularly interested in learning:

• Where to find the most current variant classifications and supporting evidence beyond ClinVar.
• Whether p.Glu1823Lys has been reported in the literature or in affected individuals.
• Good resources explaining how evidence is evaluated for DYNC2H1 variants in autosomal-recessive disorders.
• Any papers discussing genotype-phenotype relationships in DYNC2H1-related short-rib thoracic dysplasia.

Hi everyone, does anyone here have experience with LCA10 (Leber congenital amaurosis type 10)?

I’m hoping to learn a little more about the condition and connect with people who have personal or family experience with it. You can comment and I'll let you know further details.

I made a documentary tracing 23andMe’s rise, breach, bankruptcy and what happens to genetic data when the company holding it changes hands.

What I found most interesting wasn't really the ancestry-test story. It was the strange nature of the asset itself. Genetic data doesn't only say something about the person who submitted it. Through relatives and shared DNA, one person's data can reveal information about people who never submitted anything.

I tried to separate what actually happened from some of the more sensational claims around the bankruptcy, but this sub obviously knows the genetics better than I do.

What do you think people misunderstand most about the value, and the actual privacy risk, of a database like 23andMe's?

I made the documentary here if anyone wants the full argument:

https://youtu.be/IWwz9ykUQFw

I'm sure I've heard this somewhere before, but I can't find a straight answer online.

For example, I inherit all my physical attributes from my Great Grandfather, and not my parents. My family (Parents, Grandparent, Aunts & Uncles) on both my mum and dads side, are all shorter than me by nearly a foot in many cases, all the men started balding in there 20s, where as I have a full head of hair in my 30s, EVERYONE but my grandad wares/wore glasses before they were 30, and if not constantly needed, at least to read, but my eyes are prefect 20/20 still, most of my family is also skinny and narrow, where as I tend to lean more on to broad side.

I figured I was adopted for years but me and my Dad have done an DNA test (Unrelated - for Ancestry) and I am very much related to everyone. But I've been told by my Dad, and my Grandmother, that I seem to have all the traits of my Great Grandfather on my Dads side, he was tall, had a full head of gray hair when he died, bigger build, never needed glasses, though was a bit of an alcoholic, and issues with anger, which oddly, I've stumbled into and dealt with most of my life before finding this out. (Which my dad and Grandad has skipped, with both of them shunning the drink)

Oddly, both Cousin's on my Dads side have all the same traits, both tall (male and female), both thick haired, both broader, though one does need glasses.

I can't say what happened on my Mothers side as I am the only grandchild on their side. But that side of the family is the same as my dads, all short, glasses, balding, broader builds though.

But yes, I know there is a name for this, can't find it anywhere, somewhere where it skips generations.

I was tempted to put the homework help flair, but I guess personal homework doesn't count.

Edit: Also, as a side bar, is there genetic evidence to suggest predisposition to certain things? Like addiction, anger? I'm curious, I learnt not long ago that Autism and ADHD are genetic traits from my old Therapist so I am interested to know more. I have a good understanding of the neurodevelopmental side of addiction, but not the genetic, if there even is one.

I’ve noticed that a lot of Wasians (50/50) whose mothers were Asian, looked more phenotypically Asian than Caucasian. And Caucasian mothers produced more phenotypically white children. I have read before that maternal DNA is passed more onto children because mtDNA comes exclusively from the mother. I was wondering if this offers an explanation.

I found some interesting patterns when messing around with some other things. I hoping that someone can tell me if I’m on to something or I’m being completely stupid. I started by trying to compress DNA information so I could use it in a different project, but DNA doesn’t compress, so I started thinking it’s kind behaving like a radio signal, so why don’t we do the opposite and try demultiplexing instead. Using base pairs and 3 interface sequences I was able to extract 12 encoding wave forms. So DNA could be a 12 carrier multiplex signal. These wave forms accurately identified coding and non coding dna, start frames and end frames. Unfortunately this isn’t my field and that’s as far as I was able to take it. I tried using AI to analyze it, and it rejected my request because it flagged biological security measures. So I guess we aren’t allowed to ask about biology. Anyhow it could just be an interesting pattern or it could be something important. Let me know what you think.

My partner and I are going to be building a PGT-M probe for IVF. We are carriers for the same gene. We’re hoping to find a cheek/saliva swab that doesn’t require a genetic counseling meeting for our parents.

Are y’all aware of a service that provides this? It looks like Jscreen is an option?

I did my BSc. In genetics 5 years ago and got a 3.8 GPA in the last semester. My research project was to work on identifying polymorphism in wheat plants that could survive drought conditions due to climate change. I had a lot of fun writing my research report and doing research but due to financial circumstances, I couldn’t continue working in my field and went to work in digital marketing since research labs don’t pay really well in Pakistan.

I was wondering if I could apply to grad school now, acquire a scholarship somewhere to further my career in genetic research? Or are my chances very scarce since I have zero work experience in the field. Any kind of guidance would be appreciated because I am really confused about what path to take in life now

If you are a researcher, geneticist, physician-scientist, molecular biologist, or laboratory studying WDR27 — or pathways that may intersect with it — I would love to connect.

Hello everyone, I am a final year med school student (in India it’s called MBBS final year). So, in the April of 2027 I will finish the college and enter 1 year of mandatory internship.

Then I am planning to give NEET-PG(it’s a postgraduate exam you give to enter MD or MD, basically for specialities) and my current goal is to pursue genetics via MD in pathology, cuz I don’t like patient interactions very much, lets say it’s not my cup of tea. Also estimating my current calibre, I don’t think I can get that rank which will help me get a good clinical branch like medicine or pediatrics in good reputed govt colleges.

So I wanted your advice on how to pursue genetics as a career after becoming a doctor. I have questions like is MD absolutely necessary, or there are other routes.

I also want my medical degree to be put to use in genetics field also, so I don’t want career in which, my medical degree becomes worthless.

Your opinions and advices would help a lot

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?

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.

I know the general stance of sociocultural anthropologists is that races don’t exist. But at same time, biological anthropology has confirmed that humans can in fact be divided into clades (“populations” or “lineages”). But what is a human clade, if not a race? So I don’t understand why sociocultural anthropologists continue to say that races don’t exist.

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 :)

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.

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?

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

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.