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It's fun to hear some of the background about the Middle. My favorite scenes of Brick are at the beginning and the end: him licking the waffle 😂 and him dancing in the "Bago. I loved how Axl thought he was lame, but his friends actually loved his "vibe." It was Axl realizing that even though his brother wasn't his type of cool, he had his own type of coolness.

I have a neurodegenerative disease which is called Hsp spg4 which is located on the Chromosome 2 axon Arg460Cys. I know that fat soluble vitamins such D/E/K2 and manganese/tyrosine/magnesium are usually analyzed. By carrying this autosomal mutation, I do also have these Arginine/Cysteine/Ornithine/Methionine/Homocysteine toxcicity ?

I have CAH and got diagnosed at age 4. I had just recently found out that intersex is a part of this condition. My doctors don’t tell me much but when they do it goes to my mom and even then she’s hardly educated. I’m 20 now and learning more and more of this condition I’ve had all my life. Thank you for going out of your way for such a rare condition hardly talked about. It helps educate more people who are curious- and for the people who have it; are learning more of what their mind and body is.

Your podcasts are highly informative! But please, remove the stupid song at the beginning.

Can I join like these conferences

Very interesting! My youngest was dx'd with epilepsy as an infant so I'm always looking in to new research.

I got to do it for free, as part of a Gulf War Illness research study...

That's my uncle

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.

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 think i have KS along with other many problems

I have vascular and cannot find good knowledgeable health care in my community.

❤❤❤

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.

Do you have information about ADOA and plus version? It also a rare disease with little information to find.

I’m happy to see this podcast. OTC is not really heard of and this runs in our family.

I was born with klynfelter syndrome

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?

I wish it was still $300 😂

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.

Thank you so much! The content is great and audio quality is spectacular

Would either of you recommend a company to get WGS to confirm VEDS?

Staaaahhhp…. The song 😩

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?

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.

Discount code is invalid 😞

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 TH-cam 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.

I have C-PTSD and was diagnosed 9 months ago with HR+ breast cancer.

Any treatment for sma pme.. or any research going on

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 is a great podcast episode - thank you for posting this video!

I just found about this trying to learn all I can before my son is born.

I found this to be very interesting to learn about - thank you very much for posting!

Looking forward to see you at the Investors meeting

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.

This is a great interview - thank you very much for posting the video!

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.

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)?

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.

The geneticist refused to see me but told my PCP that I probably have EDS but that there is no cure so there is no point in diagnosing me.