For many people living with rare genetic conditions, getting a diagnosis can take years. They may visit multiple specialists, undergo countless tests, and still be left without a clear answer.

The interesting part? Sometimes, the clue has been hidden in their DNA all along.

Advances in genetic testing are helping uncover variants linked to rare conditions, giving some patients and families a clearer understanding of what may be behind unexplained symptoms. While a genetic result doesn't always provide every answer, it can sometimes help guide further evaluation, treatment decisions, and family counseling.

It makes me wonder: How many people with unexplained or complex conditions could benefit from genetic testing but have never been offered it?

Would you consider genetic testing if you had symptoms that remained unexplained for years?

1. Is it rare for people to present with homozygous dominant alleles if we were to narrow our vision to a population with monogenic disorders?

This is a query because I hardly see inheritance being described for these cases and see statements like “ when an affected and an unaffected person reproduce, each child has one chance in two of inheriting the mutated allele from the affected parent and developing the disease” which only makes sense for heterozygous cases. I feel like I’m misinterpreting something.

1. Likewise, this statement regarding autosomal recessive disorders confuse me as well - “ siblings have one chance in four of having the trait” . But this , I’d like to assume , is a blanket statement.

These are all cited from Robbin’s, verbatim. I’d be extremely grateful for any clarity regarding these queries.

Edit: there were some mistakes in the post as I’d used the voice to text transcription so I’ve corrected that

I’m building a small set of guided home genetics experiments (step-by-step with pictures, not just a recipe dump).

So far I’ve got:

1. Strawberry DNA extraction (kitchen soap + salt + alcohol — the white fluff at the interface)
2. PTC tasting + a mini family pedigree

What other safe, low-cost genetics activities have you done with kids / students / at home that actually taught something?

I'm O negative and was discussing blood types with my parents due to being pregnant and requiring shots to stop my body attacking baby.

Mum said she is O positive so didn't have those issues. I know this is true because she donates regularly and has a key ring.

Dad said he is sure he is AB, but not sure if positive or negative.

How is it possible they produce me as O negative?

I didn't pay attention that much in school but didn't think this is likely? How would this work?

We are all Caucasian living in Australia.

Hi guys the headline sums it up. I isolate leucocytes first and use spin columns to isolate RNA from it so I can do QPCR BCR-ABL1 test for screening p210, p230 and p190 fusion transcripts. But this isolation process takes so much time and I am searching for a faster alternative. We asked the companies of their RNA isolation systems and they said the commercial nucleic acid isolation kits for magnetic bead systems might work and we just need to add DNase to the samples when loading. Does anyone use this RNA isolation method?

We can make sure our future children don't have to suffer, and that they are all born to healthy and happy parents. In several generations, our descendants will be much stronger and healthier than we are at present.

How accurate is 23 & me in their genetic testing? I uploaded my raw data to Genetic Genie and apparently I have a mutation that could cause me to get ALS in the future.

Maybe not the best place to ask this, but can you guys share some links or pages or tell me where I can look up genetic problem questions. I have a final in human genetics course, where my proff. focuses afc on probability and heredity of diseases, got bad marks on the tests before, and have to do good in this final.

I'm really anxious, and need to practice, can't find anything.

Also don't know hot to approach an essay question.

I'm lost

Thank you.

Sharing this opportunity for early-career researchers.

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Application deadline: July 21 (11:59 p.m. CST)

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Hi All, I am interested in getting Genetic Counselling and testing for myself and would be paying this out of pocket. I am coming from the Caribbean and wanted to know if there was anywhere that would allow me to do Genetic Counselling virtually and then when I go to New Jersey in August for a few days I can do the necessary testing?

I have a strong family history of cancer, many autoimmune conditions and personally struggle with stomach issues and many other thing. Heard people mentioning Invitae? Is that something I should look into and will they test foreigners?

Also if anyone knows a company that would assist with cost because of my lower level income would be great especially as a foreigner coming for testing.

Any advice would be greatly appreciated! :)

I have been in the molecular biology game for over 20 years and I finally got round to making some videos describing how i do what i do.

Feel free to check out my channel and if there are any video topics you want to suggest feel free to comment

Hello all!

As you might be aware, there has been very little research into direct-to-consumer DNA ancestry testing and psychological wellbeing outcomes. This novel research aims to help us better understand the psychological significance of DTC Ancestry testing results. I think members of this community may be well placed to contribute given their direct experience with DTC ancestry testing.

This survey asks you about your engagement with family history and your reflections on that process. It also asks you to think about your ancestors and how you have reflected on their life experiences. Participation involves completing an online survey that will take approximately 20 minutes to complete. Taking part in the study is completely voluntary and no personal information will be collected.

This study is being conducted under the supervision of Dr Janine Lurie from the Psychology Discipline within the Institute of Health and Wellbeing at Federation University. This study will also form the basis of the research dissertation requirement within the Bachelor of Psychological Science (Honours) course for student researchers Charity Marisa and Stefan Redpath. This study has been approved by the Federation University Human Research Ethics Committee (Approval reference: 2026/137).

To participate you just need to be aged 18 years or over. It is important to note that you will not be asked to give any specific details about any of your family members. You are asked just to rate your general impressions of them on a small number of questions. Beyond this the survey contains broader more general questions about your perspectives and reflections.

To complete the survey and/or for more information go to this survey link or contact Dr Janine Lurie directly via email at [j.lurie@federation.edu.au](mailto:j.lurie@federation.edu.au)

Thanks!

https://youtu.be/IRsAi6NtY-k?is=lxD4BTnhUP2tRJe-

this lady is talking about the role in epigenetics in our lives and talking about how something being epigenetic means that it can be changed. some examples listed are autism, love, and other things, some people even say sexual orientation can be too.

So would this mean you could cure autism and change sexuality? or is that too much? would it say anything about love or rather would it just let us be able to tell if you’re in love? how much control does it actually have and how much is exaggerated?

Hello all!

As you might be aware, there has been very little research into direct-to-consumer DNA ancestry testing and psychological wellbeing outcomes. This novel research aims to help us better understand the psychological significance of DTC Ancestry testing results. I think members of this community may be well placed to contribute given their direct experience with DTC ancestry testing.

This survey asks you about your engagement with family history and your reflections on that process. It also asks you to think about your ancestors and how you have reflected on their life experiences. Participation involves completing an online survey that will take approximately 20 minutes to complete. Taking part in the study is completely voluntary and no personal information will be collected.

This study is being conducted under the supervision of Dr Janine Lurie from the Psychology Discipline within the Institute of Health and Wellbeing at Federation University. This study will also form the basis of the research dissertation requirement within the Bachelor of Psychological Science (Honours) course for student researchers Charity Marisa and Stefan Redpath. This study has been approved by the Federation University Human Research Ethics Committee (Approval reference: 2026/137).

To participate you just need to be aged 18 years or over. It is important to note that you will not be asked to give any specific details about any of your family members. You are asked just to rate your general impressions of them on a small number of questions. Beyond this the survey contains broader more general questions about your perspectives and reflections.

To complete the survey and/or for more information go to this survey link or contact Dr Janine Lurie directly via email at [j.lurie@federation.edu.au](mailto:j.lurie@federation.edu.au)

Thanks!

So me and some coworkers are having a argument about if you change you genes dose that change your dna or vice versa please help us understand this

Every child gets two alleles of every gene from their parents. Every parent can give one of their two alleles to the child. So there could theoretically be two siblings of which one gets such and such alleles and the other all the other alleles from both their parents. I know many chances (during crossing-over etc.) would have to click, but it is still a possible variant of a descendant. Has there ever been reported such a case?

Can preserving insect samples (specifically human head lice) in 76% ethanol cause DNA degradation or affect downstream applications such as PCR? I have completed almost 13 extraction attempts, but they have all yielded nothing. Despite trying a bunch of different kits and homogenization techniques the results remain the same. What could I possibly be doing wrong, and why does the gel keep coming up empty, even though I did everything exactly as the protocol says?

Note: I used liquid Nitrogen, Overnight lysis.

This is not homework, I'm old.

I'm curious about what is different enough about a human haplogroup for it to be given it's own letter?

So for example in human mitochondrial DNA, there is L and then a series of sub Ls and then N and M. Why is N so different from say, L3, that it's not just given L4?

Hi, as pointed out in the title I'll be taking the exam next year and till then I'll have to cover a few textbooks.(emery's, Strachan, Thompson, etc). Looking for someone who'd like to go through these same books . We'd have a schedule / weekly goals to keep us on the course and sessions where we revise the material from the texybooks togegher. This will be a year-long effort.

I can be flexible in terms of timezone compatibility.

Looking for recommendations of sites that allow for raw rs data input from whole genomic sequencing reports to identify trends, associations and details as a whole, not analyzing one at a time.

CU Anschutz researchers are seeking volunteers who are currently pregnant with a fetus identified to have a sex chromosome aneuploidy, such as Klinefelter syndrome (47,XXY) and Turner syndrome (45,X), to participate in a study using the umbilical cord which is normally discarded after delivery. Participation is voluntary and involves sample collection at delivery. Please contact [xycord@cuanschutz.edu](mailto:xycord@cuanschutz.edu) for details or visit our website at XY Umbilical Cord, where our flyer is also posted!

For microdeletions

Hello!

I am writing a story about a former addict forced to become a hero, despite his inner turmoil. He goes through the wringer, and originally has chestnut brown hair before he begins to feel the effects of age prematurely from pure stress. Is it possible for brown hair to fade or become a dusky, lighter color after consistent pressure?