"DNA Today" is a genetics podcast in the top 1% of podcasts globally and winner of the Best 2020 and 2021 Science and Medicine Podcast Awards. Over the last decade, the show has produced over 200 episodes covering topics like genetic conditions, technology, careers, and news. Host Kira Dineen interviews leaders in genetics including genetic counselors, researchers, doctors and patient advocates.
Kourtney Kardashian featured our host Kira Dineen and the podcast in her recent article on Poosh. With over 40 sponsors, including leaders like Illumina and ThermoFisher, "DNA Today" is valued as a leading voice in genetics.
"DNA Today" is broadcast every Friday 10:30am EST on WHUS 91.7 FM in Connecticut.
Thank for posting this video! I think I saw this before (as Episode 287), but I don't remember if I saw a whole video. Either way, I am glad that this is available!
I would like to see a system on the clinical side, like Ambry's "lifelong patient" idea (applied to WES), applied to whole genome screening. If we have new information on specific variants, that information gets disseminated to the providers. The problem is that the information needs to flow the other way, as new clinical phenotypes develop, that information needs to go back to the lab that is analyzing the DNA to add to the information of variants they are looking for. If this came to fruition, I would have my daughter's WGS run (she has a very rare birth defect of unknown etiology). I (personally) don't see the point in running WGS without being able to constantly have it reinterpreted with information flowing in both directions. I'd rather have a flow of information than a static picture. And, yes, we need a heck of a lot more information for those groups who are under-represented, though the control issue is massive. You could say that this static picture effect of genetic testing is really limiting our ability to serve our patients. How many patients were told 10+ years ago that since they tested negative for a BRCA1/2 gene mutation, they "don't have a hereditary breast cancer?" It is one of my biggest pet peeves with other GCs. Never say that a person absolutely does not have a hereditary condition. They are negative for things that we know and can look for today. We have no idea what we will be looking at in the next 10 years. This has been one of the biggest reasons why so many people are running around unaware of their risks, or worse, underestimating their risks: they were under the impression that their result was absolute and final. Thank you for publishing this interview. It gives me hope for how fast things will change. The interpretation tools needed are intimidating but inspiring. I look forward to being a part of the translation team to help patients interpret and process this information and what it means for them.
Forgive me but I believe you meant to comment on the episode that was referring to Genomic Reanalysis with Ambry that is the next podcast that came out after this one. Am I correct? This one is on epigenetics.
@@drchimrichalds6752 since I commented on this video before that one was released, it was just coincidental timing. I was reacting to their discussion in this episode, but already knew of Ambry's system as applied to WES. I'd like to see that sort of system applied to WGS.
Why has my comment vanished? Is whoever deleted it afraid they’re going to be exposed for their desire to repeat The Eugenics Movement against those of us you view as the eugenicists said ‘social parasites’? It is unacceptable to claim individuals don’t deserve to live just because they deviate from a social norm. That’s what so-called disorders have in common, they are not statistical deviations, they’re social deviations which only proves health is now political, not scientific.
Dr Miller was my nephews neurologist years ago when he was in Miami and our family had a FANTASTIC experience! They have since moved to Washington & not getting the right treatment. I wish I knew we where Dr Miller was taking patients so we can see him for help 😢
I am so grateful for Izzy sharing her story with everyone including me, I have Classical EDS and my niece has hEDS. We both got them from our parents, and I also have POTS + CCI due to my cEDS.
Would it be possible for I to have a discussion concerning ethics? I emailed those behind the Genome Project and Jennifer Doudna and they all failed to respond to my ethical questions, such as what are they doing following Francis Galton, Karl Pearson, and Ronald Fisher? They claim they want to stop eugenics, if so, why do they approve aborting fetuses just because they predict they will be disabled, that’s discrimination and sends an insulting, hateful message out to those alive today diagnosed with Down Syndrome. I asked why is there numerous clinical websites claiming they want to eradicate all autistic people, all ADHDers, all dyslexics, basically all disabled people. They wouldn’t answer me, so where’s their evidence they are not plotting Eugenics Movement 2? This is precisely why I don’t trust the usage of biotechnology, there’s a great lack of transparency and lots of hatred towards disabled people who don’t want to be ‘cured’. The fact ‘normal’ is an ideology proves modifying all disabled people is both discriminatory, hateful, and illegitimate science.
Thank you very much for sharing! I believe this provided an excellent sense of what it was like as a sickle cell patient as well as what the experience of the treatment! If I understand correctly, then this was also helpful to learn that the Fetal Hemoglobin (HbF, with alpha and gamma subunits) was targeted (where I believe the original mutation is in HBB coding for a subunit as part of adult hemoglobin, with alpha and beta subunits). So, I will try to learn more!
Izzy am I wrong, but it appears that you have grey eyes, apparently grey is the rarest colour in eyes, and is because of collagen!!! My eyes are grey/blue but I have heterochromatic eyes with the ring around the outer edge. Iridial ring?
It's actually 249$... plus subscription tough, maybe that's what uyou were referring to? I just tried the coupon code as well with no success. It's dated from January I guess it expired soon after.
This was so useful, thank you! My experience as a heterozygous female with OTCD is that adhering to treatment is particularly difficult due to the cognitive/behavioural deficits that are likely caused by this condition in the first place. Additionally, as females, a lot of us are used to being written off by health professionals when bringing up many symptoms really, but particularly more vague symptoms and definitely anything related to the menstrual cycle. As a result, many women with various diagnosed or undiagnosed conditions just ascribe signs and symptoms to “being a woman” or “life”. I will be taking steps for myself as well as “asymptomatic” family members after watching this, thank you again!
Thank you for the informative video. I am also from South Africa! JHB. I have just lost my 5th pregnancy (6th baby, vanishing twin with my one live birth). 1st pregnancy was lost at 11w and passed at home, measured 8 days behind at 1st scan, heartbeat 160, slow rising HCG but still in normal levels. No heartbeat at 2nd scan. 2nd pregnancy was 1 healthy live birth and one vanishing twin. 3rd, 4th and 5th chemical pregnancies. 6th pregnancy also measured 8 days behind, heartbeat 130, HCG levels also on the lower side of normal. 2nd ultrasound no heartbeat even though baby grew accordingly to last ultrasound. D&C done and POC taken for genetic testing. I will hopefully know the results next week. We will hopefully get some answers with future treatment. Unfortunately, IVF is not an option due to the immense cost.
Just getting jealous on this guy. I found out my XXY-Condition when i were around 25years. I whished i have to had his growing up whith parents knowing about my conditition, now i am 48 years old and still don´t know how to adapt to this syndrome. Only a very few people knows about my condition, I am still embarrassed. I know it´s stupid, it´s not my fault but i still feels like a failure.
So Izzy says that the hEDS does not involve cardiac issues other than POTS and orthostadic issues. I thought that it involved Mitral Valve pro lapse. If a person has or if a family has an issue with all or most of the heart valves plus Significant venous issues, what is that a sign of? I know it could be Marfan's syndrome, but if it's not that, should people get genetic testing find out the cause?
I have myxomatous mitral valve, MCAS, POTs, low lying caecum (enteroptosis or visceroptosis) extremely underweight, gastrointestinal issues, visible veins, prominent ovarian and uterine varices, etc As I understand MVP (mitral valve prolapse) can be something that is associated with hEDS especially if we have a myxomatous mitral valve. I’ve had one genetics appointment with a cardiologist who is also a geneticist here in Australia, who said he suspects I have Hypermobility Spectrum Disorder. My results should be back around October, the test will be done in Finland. The most upsetting thing to me was that the Dr told me that I had a “stiff” heart valve! It’s actually the opposite! SMH thankfully I have a cardiologist geneticist 🙏
Im really grateful to Izzy. My identical twin sister was diagnosed with hEDS in 2014. Although she told me about it, i never really researched it. Years later i started fainting snd she reminded me about hEDS and i looked it up. It was like a lightbulb moment. I then found Izzy's channel and learned about the diagnostic criteria. My first rheumatologist in NHS said i wasn't even hypermobil and didn't believe me that my identical twin sister was diagnosed. So i printed off her two diagnosis letters and took them to the hypermobility clinic where she was diagnosed and i was diagnosed on the sane day with hEDS. Ive been in physio for a year and a half now.
Great interview. Where would someone like myself who’s looking to work with a genetic counselor to help decipher the genetic data once my Nebula Genomics results come in? Are there genetics counselors that specialize in certain aspects of the genetic information decoding, etc?
I saw him at a meeting of tech founders in Germany last week, and he presented on Point of Care devices, promising techs!! I am happy that part of that startup relocated to Germany from the US for almost a year. We need in Germany more highly innovative companies.
I noticed that a couple videos were updated recently - so, thank you very much for providing those updates! I believe my comment was removed after the video was updated, so I don't have to worry about a comment that doesn't make as much sense after the video is updated. I noticed that some videos are more of a trailer for the full podcast. However, for this video, the RU-vid length of 6:20 is much shorter than the Podbean length of 54:11, and I thought it ended fairly abruptly. *Should there have been a much longer segment of video uploaded (if that is still available)?*
Very interesting conversation, and the voice of the child here (now adult) is so compelling. If this is something that begins to affect the child early on, in terms of feeling different, what does the age appropriate progression of conversations look like? This is really fascinating.
Ryan is the best human being, such a good man and a great example to us all. I can't express how good this guy is! I have a close relative diagnosed during birth with XXY. We didn't know, but my relative as a baby was amazing, beautiful. He is/was exceptional, smart. I worship the ground my relative walks on!! Ryan has done the best job to let everyone known XXY people are special and so great.
This seems like a poorly understood condition that is pretty prevalent in the population that is probably being under-reported. This is one of those conditions that tends to be a late diagnosis too after people have suffered with it for years.
Thank you for posting all of these videos! As a minor point, the thumbnail is for Episode #208 (for The 100,000 Genomes Project). However, the beginning of the video has a slide that correctly for Episode #209 (for Blueprint Genomics). Thank you again!
Thank you very much for positing these videos. I am very interesting in learning through additional DNA Today content, and I hope it is OK to have multiple comments within a short period of time. However, if I remember correctly, then I was surprised that the word “poverty” was not specifically mentioned. For example, there are others who know more than myself, but I have at least seen multiple types of studies related to health problems in rural and/or poor Appalachia. So, in general, I believe this topic related to at least some content that you might find if you look for topics like “Mountain Dew Mouth.” For example, if I study makes sure that all participants have standard of care (and it is unethical to design a study where patients are intentionally given less than standard of care), then those individuals from certain socioeconomic groups should greatly benefit. However, if standard of care and avoidance of very poor dental hygiene is achieved, then I would expect that makes drawing conclusions from the data analysis more difficult (since differences by socioeconomic status would not relate to the largest difference in the overall population). To be fair, I found a couple papers where Lauren Winter was acknowledged (Chen et al. 2019 and McNeil et al. 2019), where I don't think the title reflects anything controversial. However, with my level of understanding, I thought there were some considerations to somebody with even less exposure to the topic.
I apologize that it is not the full segment and it already **contains some distributing images.** However, this is an example that I have continued to remember very well: ru-vid.com/video/%D0%B2%D0%B8%D0%B4%D0%B5%D0%BE-PI7FkBoDxx4.html
Hi - Thank you very much for positing these videos. I am currently going through watching or listening DNA Today podcasts. While I am preparing to send a follow-up message related to the Patreon channel, I had one question that I wanted to ask for this particular video. I have an experience on FamilyTreeDNA where somebody uploaded my genetic information and the sample was incorrectly identified as a "Father/Son". If there are method limitations that can't distinguish self versus close relatives, is this something that law enforcement is aware about (if using FamilyTreeDNA)?
I think links sometimes get blocked on RU-vid comments. So, I will post 2 replies for providing additional information. For example, I have more information in a blog post titled "Please Take Time to Critically Assess Anxiety-Inducing Results", and that provides a link to a Twitter discussion describing this known issue.
Im doing a report on CRISPR, and I am really surprised how few people actually know about it. I took a couple classes through Harvard on CRISPR and it’s amazing how far we have gone in the roughly 40 years.
I advise you to not give up, don’t take crap from anyone as the diagnosis is something that can be very helpful, even to others in the family who may be affected. It’s expensive but it’s really worth it in my opinion because it can be the difference between being gaslighted or cared for. ❤
I have eds hypermobility type, and it has wrecked my body. My doctors are at the phase of telling me to wait for my joints to fuse. They tell me this will relieve some of the pain lol. More education in the medical community is desperately needed. I went through one nightmare after another during the past 25 years over this condition. Thank you for discussing this. ❤
Interesting that they are using rapamyacin (sp?). I knew that keto diets (and fasting) has been used in the past to treat seizures (though I didnt know enough about TSC in relation to these). I went to the cancer prevention study talk at NSGC and they were mentioning a study using rapamyacin to reduce the chance for patients with Lynch syndrome to get colon ca. I've been watching things in the general longevity space and rapamyacin is also being studied there (in low pulsed doses). The dog longevity project is supporting studies with this in this species also.
Is there any studies or anyone I can contact regarding tubular accurate dystrophy. I saw that Martin had some Input. I'm looking for some information and answers .
