r/genetics

Hey everyone,

My dad is in the later stages of FTD and was diagnosed in his mid-60s. He recently had genetic testing/a dementia panel done, which came back negative for all of the tested variants.

However, we have some reason to suspect there may be a familial/genetic component, since his mother developed very similar symptoms at around a similar age.

Unfortunately, my dad likely has only months to live, so we're trying to figure out what we should do while we still can to preserve as much potentially useful genetic/biological information as possible.

Some of the options we're considering:

1. DNA banking
2. Ambry Genetics Patient for Life
3. Whole-genome sequencing (WGS)
4. Blood banking — is preserving whole blood or PBMCs useful?
5. A second independent genetic panel
6. Preserving other tissue, such as skin fibroblasts, if feasible

For doctors, genetic counselors, researchers, or anyone who has dealt with a similar situation:

• What would you prioritize preserving/testing before he passes?
• Are there particular types of samples that are especially valuable for future genetic testing or research?
• Are there institutions or services you'd recommend for this?

We're mainly trying to avoid realizing after the fact that there was something important we could have preserved or tested while he was still alive.

Any advice would be greatly appreciated.

I'm not sure what exactly I want to know, so hopefully someone can filter through the details and point me in the right direction.

My mom, born in 1937 and now passed, we now understand was ADHD, probably AuDHD. All her 5 kids are high functioning autism and/or ADHD, and all the biological kids from myself and my 4 siblings are the same. There's also a lot of extreme hypermobility and Sjogren's, plus a lot of other issues that we can trace to our mom, with other issues like heart disease, diabetes, and arthritis, coming in strong from my dad, born in 1929, also passed. Most of the women in the family have terrible menstruation, perimenopause, and menopause.

I'm in Alberta, Canada, and cannot get any genetic testing, period. They could test for Ehlers Danlos but only if an immediate family member died from an aneurysm. I was able to get the the group of blood tests for Sjogren's, which came back negative, but the doc figures I, and a couple of my kids, still have it, it just sometimes doesn't show on the tests.

So my doc suggested using the DNA testing from the US sequencing site. I point blank said, it's not medical testing, can she act on anything that's found? She said she could and would. It's impossible to get referrals to most specialists here unless you're obviously seriously in medical trouble.

I've been researching the sequencing service for the better part of a year and I just don't know. Would knowing what genes are responsible for our genetic mess help with anything? Gene therapy to help non life threatening issues is a long ways off, in a country that uses the public health care system (which I support, but it has its downsides).

I'd really appreciate some opinions from people who understand this kind of thing. I only have a very basic grasp on it and while the nerd part of my brain absolutely wants to see the data of my DNA, I don't know if it's actually useful or actionable.

So, I got invited to speak with postgraduate students in the university on next week. Please I need genetics questions that a image oriented can either be from an experiment or test that is difficult for even an Ai to answer. With the answer which must be singular and straight forward from your findings.

I will like to use it and test my knowledge as I prepare to meet the students.

My spouse and I are third cousins on our maternal side. Our maternal grandmothers are first cousins. On my side there has been no contagious marriage for two generations on both my maternal and paternal side. My wife on the other hand her parents are third cousins I believe and her paternal grandparents are first cousins not sure about her maternal grandparents. We both come from a south Asian background. What are the chances of we choose to have kids that we run into genetic issues. Other than heart disease causing early deaths in my immediate family there have been no genetic issues. Her side I believe the same but her brother does have beta thalassemia.

i recently saw research about using CRISPR to either remove or silence the extra chromosome 21 in cells with trisomy 21.

It made me wonder: if scientists eventually figure out how to safely correct the extra chromosome in enough cells throughout the body, could CRISPR theoretically treat or even cure Down syndrome?

How realistic is this possibility, and what are the biggest scientific challenges preventing it right now? 🫪

Idk the thought crept in my mind while sleeping and hence the post I saw about this wasn't officially true but a kind of imaginary stuff I imagined while pausing for a min!! How could be the gene expression or silencing effects on phenotype? It would be a great achievement tho...

Hi! I’m currently a senior in high school and I’m considering studying Molecular Genetics in the uk for my bachelor’s degree.

I’m interested in the field, but I’m a bit worried about the career opportunities and salaries after graduating. I’m willing to do a master’s, but at this time I’m not planning on doing a PhD.

I’ve been looking at jobs in Europe specifically Switzerland, france and the uk since that’s where I’m hoping to study and work, but I’m having a hard time finding many entry-level positions. A lot of jobs seem to require several years of experience, which makes me wonder how new graduates are supposed to get that experience.

What different career paths can I go into with a Molecular Genetics degree? What jobs have good salaries, and what would be the best way to build experience during university?

I’d especially appreciate advice from anyone working in genetics, biotech, pharma, or related fields in Europe.

Just curious, for what reason?

Average read depth on chromosomes 1-22 was 42X for me (mother) and average read depth on chromosomes 1-22 for him (son) was 75X.

MT read depth for me was around 11,300X and for him it was around 16,400X.

We have a very high amount of NUMT’s and differ at 2 locations. Novel variants in certain genes must be beneficial and everything is balanced somehow because we are healthy, athletic and look younger than our ages.

For those that have expertise in this particular subject, I’d appreciate your feedback and/or opinions.

I'm trying to understand something about how genetic variant interpretation works and would love input from people who understand this better than I do.

A proband had whole exome sequencing.
Two heterozygous variants of uncertain significance were found in the same gene. The proband's clinical features somewhat overlap with the published phenotype for that syndrome. Parental testing has not been done yet.

I have a few questions about the genetics reasoning here, not asking anyone to interpret specific results:

Question 1:

What are the odds that two VUS variants land in the same gene purely by coincidence during exome sequencing? Is finding two variants in the same gene more meaningful than finding one, statistically speaking?

Question 2:
Before parental testing is done, what is the starting probability that two VUS in that gene actually represent a true genetic finding, versus just being noise? Do geneticists have a way of thinking through this?

Question 3:
How much weight do clinical geneticists give to the fact that the person's clinical features overlap with the published phenotype for that gene? Does a strong phenotype match move the needle on how seriously to take a VUS in that gene?

Thanks in advance.

I was reading about population genetics and learned that genetic tests on Hitler's living relatives showed his paternal lineage was Haplogroup E1b1b. This marker originated tens of thousands of years ago in East Africa and is widespread across the Horn of Africa (especially Somalia), North Africa, and parts of the Mediterranean today. Has anyone else come across this genetic fact before?

I got some dna results for full exome testing looking for suspected connective tissue disorder. Several TNXB variants are known to cause classic-like Ehlers-danlos syndrome (EDS) type 1, but there is one nonsense mutation Clinvar says is germline pathogenic but there is no condition (currently) linked to it. It was previously listed for EDS (rs2151907055) but is now withdrawn from dbSNP (no idea why). There is no existing research (that I could find) that have looked at this variant. Specifically:
 
NM_001365276.2(TNXB):c.7440delinsAC (p. Tyr2480Ter)
Accession: VCV0001701499.30
RCV002276146

This mutation would result in the absence or severe deficiency of the tenascin-x protein. Since this is characteristic of EDS, I think that it would qualify as being a diagnostic tool.

What do y’all think?

Edit: fixed rsID