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DNA Today
United States
เข้าร่วมเมื่อ 10 ก.ค. 2012
"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.
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.
HBO’s “Six Schizophrenic Brothers” Sister and Advocate Lindsay Mary Galvin Rauch
Content/Trigger Warning: This conversation includes sensitive topics of sexual abuse, violence, suicide, and homicide. It is not suitable for younger audiences.
We delve into the complex and deeply personal story of the Galvin family, which has played a significant role in the history of schizophrenia research. Our guest, Lindsay Mary Galvin Rauch, is the youngest of twelve siblings in the Galvin family, six of whom were diagnosed with schizophrenia. Their family's genetic material has been a cornerstone of nearly every major genetic study on the disorder since the 1980s, contributing invaluable insights into the genetic underpinnings of schizophrenia.
Lindsay shares her unique perspective growing up in a large family profoundly affected by mental illness, as chronicled in Robert Kolker's award winning book Hidden Valley Road and the HBO 2024 documentary Six Schizophrenic Brothers.
Hidden Valley Road has achieved a long list of accolades…
Instant #1 NEW YORK TIMES best-seller
Official selection of OPRAH’S BOOK CLUB
A NEW YORK TIMES, WALL STREET JOURNAL, and WASHINGTON POST Top Ten Book of the Year
PEOPLE ’s #1 Best Book of the Year
Named a Best Book of the Year by NPR, Time, Slate, Smithsonian, Forbes, Audiophile, Parade, Kirkus, Library Journal, Publisher’s Weekly, the Evening Standard (UK), the Sunday Times (UK), The New York Post, and Amazon
Finalist, PEN/John Kenneth Galbraith Award for Nonfiction
Featured in PRESIDENT BARACK OBAMA’s list of favorite books of the year
Lindsay's life's journey inspired her evolution from victim and survivor to advocate and thriver. She enjoys sharing her story of the courage to heal and fortitude in adversity. The hope for greater compassion for those affected and their families is her north star. Lindsay is a board member of The Henry Amador Center on Anosognosia and Well Power (formally the Mental Health Center of Denver).
Beyond discussing the scientific impact of her family's contributions, Lindsay opens up about her personal experiences, including the challenges of living with so many siblings diagnosed with schizophrenia, the role of trauma in mental health, and her decision to take on the responsibility of caring for her brothers later in life.
Listeners will gain insights into the following topics:
The Galvin family's pivotal role in schizophrenia research and the discovery of a SHANK2 gene mutation linked to the disorder.
The varied symptoms among her brothers and what this diversity reveals about the condition.
The impact of trauma on the onset of schizophrenia symptoms, and how this played out in her family.
The challenges and responsibilities of managing care for siblings with schizophrenia, including the effects of medications, electroshock therapy, and the issue of anosognosia (lack of insight into one's illness).
The ongoing stigma and the need for societal change to better support those with mental health disorders.
The process of genetic testing for the SHANK2 familial mutation and the decisions made regarding her own children.
Lindsay’s reflections on personal resilience, mental health, and her hopes for the future of schizophrenia research.
During the interview we mentioned a couple content/resources to check out including…
“The Immortal Life of Henrietta Lacks” by Rebecca Skloot (Check out Episode #34 of DNA Today where descendents of Henrietta Lacks were interviewed)
“The Collected Schizophrenias: Essays” by Esmé Weijun Wang
Spotlight Documentary Directed by Tom McCarthy
National Alliance on Mental Illness (NAMI)
Patrick J. Kennedy’s Books, “Profiles in Mental Health Courage” and “A Common Struggle”
LEAP Institute
Also during the episode Kira and Lindsay Mary weren’t confident about the name of the therapy that Peter was receiving. They should have been, as they got it right, electroconvulsive therapy (ECT).
Lindsay has been launched onto the international stage due to her family's story. She has spoken for the Psych Congress, The NEI Conference, and many other prestigious programs. Speaker Inquiries are accepted at lindsaymarygalvinracuh.com. and donations to assist with her brother's care can be made at GalvinFamilyTrust.org.
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our TH-cam channel, this includes some episodes recorded at NBC Universal Stamford Studios.
DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, TH-cam and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
We delve into the complex and deeply personal story of the Galvin family, which has played a significant role in the history of schizophrenia research. Our guest, Lindsay Mary Galvin Rauch, is the youngest of twelve siblings in the Galvin family, six of whom were diagnosed with schizophrenia. Their family's genetic material has been a cornerstone of nearly every major genetic study on the disorder since the 1980s, contributing invaluable insights into the genetic underpinnings of schizophrenia.
Lindsay shares her unique perspective growing up in a large family profoundly affected by mental illness, as chronicled in Robert Kolker's award winning book Hidden Valley Road and the HBO 2024 documentary Six Schizophrenic Brothers.
Hidden Valley Road has achieved a long list of accolades…
Instant #1 NEW YORK TIMES best-seller
Official selection of OPRAH’S BOOK CLUB
A NEW YORK TIMES, WALL STREET JOURNAL, and WASHINGTON POST Top Ten Book of the Year
PEOPLE ’s #1 Best Book of the Year
Named a Best Book of the Year by NPR, Time, Slate, Smithsonian, Forbes, Audiophile, Parade, Kirkus, Library Journal, Publisher’s Weekly, the Evening Standard (UK), the Sunday Times (UK), The New York Post, and Amazon
Finalist, PEN/John Kenneth Galbraith Award for Nonfiction
Featured in PRESIDENT BARACK OBAMA’s list of favorite books of the year
Lindsay's life's journey inspired her evolution from victim and survivor to advocate and thriver. She enjoys sharing her story of the courage to heal and fortitude in adversity. The hope for greater compassion for those affected and their families is her north star. Lindsay is a board member of The Henry Amador Center on Anosognosia and Well Power (formally the Mental Health Center of Denver).
Beyond discussing the scientific impact of her family's contributions, Lindsay opens up about her personal experiences, including the challenges of living with so many siblings diagnosed with schizophrenia, the role of trauma in mental health, and her decision to take on the responsibility of caring for her brothers later in life.
Listeners will gain insights into the following topics:
The Galvin family's pivotal role in schizophrenia research and the discovery of a SHANK2 gene mutation linked to the disorder.
The varied symptoms among her brothers and what this diversity reveals about the condition.
The impact of trauma on the onset of schizophrenia symptoms, and how this played out in her family.
The challenges and responsibilities of managing care for siblings with schizophrenia, including the effects of medications, electroshock therapy, and the issue of anosognosia (lack of insight into one's illness).
The ongoing stigma and the need for societal change to better support those with mental health disorders.
The process of genetic testing for the SHANK2 familial mutation and the decisions made regarding her own children.
Lindsay’s reflections on personal resilience, mental health, and her hopes for the future of schizophrenia research.
During the interview we mentioned a couple content/resources to check out including…
“The Immortal Life of Henrietta Lacks” by Rebecca Skloot (Check out Episode #34 of DNA Today where descendents of Henrietta Lacks were interviewed)
“The Collected Schizophrenias: Essays” by Esmé Weijun Wang
Spotlight Documentary Directed by Tom McCarthy
National Alliance on Mental Illness (NAMI)
Patrick J. Kennedy’s Books, “Profiles in Mental Health Courage” and “A Common Struggle”
LEAP Institute
Also during the episode Kira and Lindsay Mary weren’t confident about the name of the therapy that Peter was receiving. They should have been, as they got it right, electroconvulsive therapy (ECT).
Lindsay has been launched onto the international stage due to her family's story. She has spoken for the Psych Congress, The NEI Conference, and many other prestigious programs. Speaker Inquiries are accepted at lindsaymarygalvinracuh.com. and donations to assist with her brother's care can be made at GalvinFamilyTrust.org.
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our TH-cam channel, this includes some episodes recorded at NBC Universal Stamford Studios.
DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, TH-cam and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
มุมมอง: 82
วีดีโอ
DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care
มุมมอง 4819 ชั่วโมงที่ผ่านมา
As many of our listeners know, our host Kira Dineen is a member of the LGBQTIA community and thought this was an important episode to share with listeners. She is also on the DNA Dialogues team and is always excited to share episodes. In this episode of DNA Dialogues we delve into the importance of gender-inclusive language in genetic counseling and the specific challenges transgender and gende...
RNA Analysis with Ambry Genetics
มุมมอง 5721 ชั่วโมงที่ผ่านมา
We have wanted to explore the role of RNA analysis in genetic testing for a long time on DNA Today, but waited until we could get THE leader in the space, Ambry Genetics. The Vice President of Research and Development and head of their Translational Genomics lab, Dr. Rachid Karam, was kind enough to come on to have this long awaited conversation. We'll discuss Ambry Genetics' history of innovat...
Netflix’s “The Man With 1,000 Kids” Fertility Fraud Expert Eve Wiley and Advocate Laura
มุมมอง 138หลายเดือนก่อน
How many biological children can one sperm donor create? What are the regulations surrounding donor sperm? How can prospective parents verify the sperm donor they selected is in fact the sperm they used to conceive? The answers are shocking. For two weeks “The Man With 1,000 Kids” was #1 on Netflix. As of this recording in late July 2024, it has amassed 5.5 million views. It is a documentary se...
Genetic Causes of Epilepsy with Dr. Mattison, Dr. Oliveira and Ana Rita
มุมมอง 48หลายเดือนก่อน
We are delving into the genetic causes of epilepsy in this episode, specifically the role of ATP6V0C in epilepsy. To do so we are joined by Dr. Kari Mattison, Dr. Luis Miguel Oliveira, and Ana Rita. Kari Mattison, PhD is a research scientist at the University of Minnesota - Twin Cities. She earned her PhD in Genetics and Molecular Biology from Emory University where her dissertation work was on...
Genetic Counselors Role in Insurance with Stephanie Gandomi
มุมมอง 81หลายเดือนก่อน
Did you know genetic counselors can work for medical insurance companies? Stephanie Gandomi was one of the first! She is a licensed and board-certified genetic counselor with over 20 years of experience in medical genomics including patient care, research, industry, insurance, education, and more. Currently, she serves as the Program Director of the Master of Science in Genetic Counseling at So...
Familial Hypercholesterolemia at the NIH with Jess and Julie
มุมมอง 90หลายเดือนก่อน
We dive into the journey of a family who unexpectedly discovered a genetic condition and the pivotal role that research at the National Institutes of Health (NIH) played in their understanding and treatment. Joining us are Jess, a patient with a secondary genetic finding, and her genetic counselor, Julie Sapp, from the National Human Genome Research Institute. Secondary genetic findings, often ...
Exome Reanalysis with Ambry Genetics
มุมมอง 105หลายเดือนก่อน
In this episode, we are exploring Ambry Genetics' groundbreaking “Patient for Life” proactive exome reanalysis program. This unique initiative offers lifetime support to patients with rare and undiagnosed conditions, continuously updating their exome testing findings as new scientific discoveries are made. Joining us are two distinguished experts from Ambry Genetics who will shed light on this ...
Epigenetics and Beyond: Dr. John Greally's Journey
มุมมอง 73หลายเดือนก่อน
In this special episode, Kristina Inman, a recent graduate of Sarah Lawrence College's genetic counseling program, interviews Dr. John Greally, a leading figure in the field of genetics and pediatrics. Kristina Inman delves into Dr. Greally’s groundbreaking work and personal journey. Dr. John Greally, is the director of the Center for Epigenomics, Professor of Genetics and Pediatrics, and Chief...
Genetic Counseling Board Exam Updates with ABGC
มุมมอง 108หลายเดือนก่อน
We explore the genetic counseling board exam, its development, delivery, and resources available to test takers by the American Board of Genetic Counseling (ABGC) directly! There is so much to cover so this is a DOUBLE EPISODE of DNA Today. Joining us in this episode is ABGC’s current President, Angela Trepanier, and the Executive Director, Heather Rich. They provide an insider look at the exam...
Newborn Screening for Cancer Disposition with Dr. Lisa Diller
มุมมอง 402 หลายเดือนก่อน
In this episode we explore the emerging field of newborn screening for cancer predisposition with Dr. Lisa Diller from Dana-Farber/Boston Children’s. What’s extra special about this podcast episode? Two Sarah Lawrence Genetic Counseling students took over! Great job to Jessica Fernandes and Yalda Safaei on this interview. Dr. Lisa Diller is the Vice Chair of the Department of Pediatric Oncology...
Smith-Magenis Syndrome with Parent Scotti Taylor
มุมมอง 522 หลายเดือนก่อน
In this episode, we explore the rare genetic disorder Smith-Magenis Syndrome (SMS) with our guest, Scotti Taylor. Scotti shares her personal journey and insights about her oldest daughter, Drew, who was diagnosed with SMS. Join us as we learn about the challenges and triumphs faced by individuals with SMS and their families. Scotti Taylor (she/her) is a fine artist based in Oceanside, Californi...
TALEN® Gene Editing Technology with Cellectis
มุมมอง 2112 หลายเดือนก่อน
The real power of gene editing is being able to choose exactly where to edit a genetic disorder, as easily as correcting a tiny typo in a text. With its 25 years of expertise, Cellectis was the first company to translate gene editing tools into potentially life-saving therapies. They invented the allogeneic approach (which is the transfer of cells from one individual to another). Cellectis’ tec...
Genetic Ethics with Dr. Arthur Caplan
มุมมอง 1043 หลายเดือนก่อน
To discuss ethics in genetics, we are honored to host Dr. Arthur Caplan (he/him), a renowned bioethicist and a pivotal figure in the field of medical ethics. He is currently the Drs. William F and Virginia Connolly Mitty Professor and founding head of the Division of Medical Ethics at NYU School of Medicine in New York City. Topics Covered: Evolution of Bioethics in Genetics: Insights into how ...
CRISPR Cured Victoria Gray’s Sickle Cell
มุมมอง 2403 หลายเดือนก่อน
CRISPR Cured Victoria Gray’s Sickle Cell
Qatar Genome Program with Dr. Said Ismail
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Qatar Genome Program with Dr. Said Ismail
IVF Implications of Alabama's Frozen Embryo Ruling with Laura Hercher
มุมมอง 384 หลายเดือนก่อน
IVF Implications of Alabama's Frozen Embryo Ruling with Laura Hercher
Cardiogenetics with Blueprint Genetics
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Cardiogenetics with Blueprint Genetics
The Evolution of Caring for Females With OTC Deficiency
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The Evolution of Caring for Females With OTC Deficiency
AI To Enhance Variant Curation with Daniel Uribe
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AI To Enhance Variant Curation with Daniel Uribe
Celebrating Down Syndrome with Parent & Nurse Jenness Stock
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Celebrating Down Syndrome with Parent & Nurse Jenness Stock
Reflecting on 50 Years of Greenwood Genetic Center
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Reflecting on 50 Years of Greenwood Genetic Center
DNA Dialogues: Rare Disease Family Experience
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DNA Dialogues: Rare Disease Family Experience
Targeted DNA Methylation Sequencing with Wasatch BioLabs
มุมมอง 1896 หลายเดือนก่อน
Targeted DNA Methylation Sequencing with Wasatch BioLabs
Wolfram Syndrome with Stephanie Snow Gebel
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Wolfram Syndrome with Stephanie Snow Gebel
ENPP1 Deficiency Disorders with Inozyme
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ENPP1 Deficiency Disorders with Inozyme
Clinical Trials for One Patient with Dr. Joe Gleeson
มุมมอง 697 หลายเดือนก่อน
Clinical Trials for One Patient with Dr. Joe Gleeson
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.
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 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 $300 😂
It's actually 249$... 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.
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?
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.
Discount code is invalid 😞
Yep doesn't work.
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'd also be interested
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.
Here are the two papers that I found: Chen et al. 2019 (pubmed.ncbi.nlm.nih.gov/30993747/) and McNeil et al. 2019 (pubmed.ncbi.nlm.nih.gov/31328316/)
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: th-cam.com/video/PI7FkBoDxx4/w-d-xo.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 TH-cam 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.
Here is a link to that blog post: cdwscience.blogspot.com/2019/08/please-take-time-to-critically-assess.html
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.
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. ❤