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Becker Muscular Dystrophy Clinical Trials with Edgewise Therapeutics
Dr. Joanne Donovan, Chief Medical Officer at Edgewise Therapeutics, join the show to discuss Becker Muscular Dystrophy (Becker) and emerging treatments.
We dive into Dr. Donovan’s role at Edgewise and the company’s research into treatments for Becker and Duchenne Muscular Dystrophy. At the forefront of this research is sevasemten, an investigational fast myosin inhibitor designed to combat contraction-induced muscle injury, which plays a significant role in muscle deterioration for those living with Becker.
Please note that sevasemten is an investigational agent that is not approved for use by any regulatory authority in any territory. All information shared in this podcast episode is intended for healthcare providers only. This episode is for informational purposes only and should not be considered professional medical advice. Always consult your doctor or qualified medical professional for any questions that you may have regarding a medical condition, procedure, treatment or trial.
Joanne M. Donovan, M.D., Ph.D., has served as Chief Medical Officer at Edgewise Therapeutics since 2021. Most recently, Dr. Donovan served as Chief Medical Officer and Senior Vice President, Clinical Development at Catabasis Pharmaceuticals. Since 1989, she has been a staff physician at the VA Boston Healthcare System, where she was formerly Chief of Gastroenterology. Dr. Donovan has held an appointment at Harvard Medical School since 1990, most recently as associate clinical professor of medicine. From 1998 to 2011, Dr. Donovan served in positions of increasing responsibility, ultimately as vice president of clinical development, at Genzyme, a biotechnology company, which she joined through its acquisition of GelTex Pharmaceuticals. Dr. Donovan holds a Ph.D. in medical engineering and medical physics from the Massachusetts Institute of Technology, an M.D. from Harvard Medical School and an S.B. from the Massachusetts Institute of Technology. She completed residency training in internal medicine and a fellowship in gastroenterology at the Brigham and Women's Hospital.'
Key Discussion Points:
Becker Muscular Dystrophy Overview: Becker is a genetic, progressive disease that leads to muscle degeneration and weakness. Symptom onset varies and can be debilitating, with patients losing muscle function over time.
The Science Behind Becker: Muscle breakdown in Becker is driven by dysfunctional dystrophin, a protein that supports muscle fibers during contraction. Without proper dystrophin function, repeated contraction-induced injury leads to muscle fiber loss and replacement by fibrosis and fat.
Edgewise Therapeutics’ Research: The investigational therapy sevasemten has shown promising results in recent trials, including stabilization of functional assessments and reductions in muscle damage biomarkers. Dr. Donovan shares how Edgewise is progressing to the pivotal Phase 2 GRAND CANYON study, which is now enrolling ambulatory adults with Becker.
If you are a healthcare provider with patients who may benefit from this research, you can refer them to the study through the information below.
1) Contact our Edgewise team by email at studies@edgewisetx.com.
2) Have your patient go to beckergcstudy.com, where they can contact someone from patient support.
3) Or submit your contact information via beckergcstudy.com/hcp and someone will reach out to you.
More DNA Today Episodes on Muscular Dystrophies:
#156 Rich Horgan on Duchenne Muscular Dystrophy (DMD)
#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde
Stay tuned for the next new episode of DNA Today on 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 UA-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, UA-cam and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
Переглядів: 60

Відео

What is a Genome Health Analyst? Exploring NYU and Sarah Lawrence's New Master’s Program
Переглядів 9719 годин тому
We are learning about an exciting, newer career in the genomics field: genome health analyst. This role is rapidly gaining importance as the demand for interpreting personal genomic data continues to grow, and healthcare systems need more professionals trained to make this data clinically actionable. Joining us are Dr. Claire Davis and Anna Cantor, Co-Directors of the new Master's of Science in...
Netflix’s Sandra Lee on her Breast Cancer and “Blue Ribbon Baking Championship”
Переглядів 1921 годину тому
Two-time Emmy-winning celebrity chef Sandra Lee joins the show. Known for her innovative “Semi-Homemade” cooking style that revolutionized how millions approach the kitchen, Sandra is not just a culinary icon but also a dedicated advocate for health and wellness. In honor or breast cancer awareness month, we chat about her courage and openness in sharing her personal battle with breast cancer, ...
NSGC 2024 Recap
Переглядів 1521 годину тому
We’re recapping and reflecting on the 43rd National Society of Genetic Counselors (NSGC) Annual Conference that took place in vibrant New Orleans. As always, the sense of community was incredible, and this year was no exception. I had the privilege of reconnecting with past guests, sponsors of the show, classmates, and meeting new people. It’s always surreal to meet so many listeners in person-...
Mock Cancer Genetic Counseling Session
Переглядів 17514 днів тому
We're excited to announce the launch of our new Mock Genetic Counseling Session series! In our first installment, genetic counselor Catherine Mayo and student Ariel Modeste perform a mock cancer genetic counseling session, offering insight into how genetic testing for cancer risks is discussed with patients. We hope this series is helpful for prospective and current genetic counseling students,...
Congenital Myasthenic Syndromes with Dr. Hanns Lochmüller
Переглядів 159Місяць тому
After discovering she’s a carrier for Congenital Myasthenic Syndromes, host Kira Dineen sought out to learn more. She met a leading expert in CMS, Dr. Hanns Lochmüller. Dr. Lochmüller is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare diseases. He is a Senior Scientist at CHEO Research Institute. He is also a Professor of Neurology at the University ...
NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19
Переглядів 107Місяць тому
In this special episode of DNA Today, we are honored to be joined by one of the most influential figures in modern science, Dr. Francis Collins. Dr. Collins served as the Director of the National Institutes of Health (NIH) during one of the most critical periods in modern history, including the height of the COVID-19 pandemic. He is also renowned for leading the monumental Human Genome Project,...
Transformative Therapies for Sickle Cell Disease with “Through The Genes”
Переглядів 50Місяць тому
On Episodes #288 and #289 of DNA Today, I spoke with Victoria Gray, the first person treated with CRISPR for her Sickle Cell Disease (SCD) symptoms. Since then, I’ve met two amazing patient advocates-Wunmi Bakare and Dima Hendricks-who also have Sickle Cell Disease. They've expanded my understanding of gene therapy and other emerging treatments for SCD, and perfect timing to kick off Sickle Cel...
HBO’s “Six Schizophrenic Brothers” Sister and Advocate Lindsay Mary Galvin Rauch
Переглядів 10 тис.Місяць тому
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 Galv...
DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care
Переглядів 662 місяці тому
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
Переглядів 1132 місяці тому
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
Переглядів 2182 місяці тому
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
Переглядів 603 місяці тому
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
Переглядів 1053 місяці тому
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
Переглядів 1063 місяці тому
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
Переглядів 1493 місяці тому
Exome Reanalysis with Ambry Genetics
Epigenetics and Beyond: Dr. John Greally's Journey
Переглядів 873 місяці тому
Epigenetics and Beyond: Dr. John Greally's Journey
Genetic Counseling Board Exam Updates with ABGC
Переглядів 1333 місяці тому
Genetic Counseling Board Exam Updates with ABGC
Newborn Screening for Cancer Disposition with Dr. Lisa Diller
Переглядів 524 місяці тому
Newborn Screening for Cancer Disposition with Dr. Lisa Diller
Smith-Magenis Syndrome with Parent Scotti Taylor
Переглядів 834 місяці тому
Smith-Magenis Syndrome with Parent Scotti Taylor
TALEN® Gene Editing Technology with Cellectis
Переглядів 2444 місяці тому
TALEN® Gene Editing Technology with Cellectis
Genetic Ethics with Dr. Arthur Caplan
Переглядів 1385 місяців тому
Genetic Ethics with Dr. Arthur Caplan
CRISPR Cured Victoria Gray’s Sickle Cell
Переглядів 3535 місяців тому
CRISPR Cured Victoria Gray’s Sickle Cell
Qatar Genome Program with Dr. Said Ismail
Переглядів 2906 місяців тому
Qatar Genome Program with Dr. Said Ismail
IVF Implications of Alabama's Frozen Embryo Ruling with Laura Hercher
Переглядів 456 місяців тому
IVF Implications of Alabama's Frozen Embryo Ruling with Laura Hercher
Cardiogenetics with Blueprint Genetics
Переглядів 1146 місяців тому
Cardiogenetics with Blueprint Genetics
The Evolution of Caring for Females With OTC Deficiency
Переглядів 976 місяців тому
The Evolution of Caring for Females With OTC Deficiency
AI To Enhance Variant Curation with Daniel Uribe
Переглядів 996 місяців тому
AI To Enhance Variant Curation with Daniel Uribe
Tay-Sachs with Dr. Matthew Goldstein
Переглядів 1456 місяців тому
Tay-Sachs with Dr. Matthew Goldstein
Celebrating Down Syndrome with Parent & Nurse Jenness Stock
Переглядів 587 місяців тому
Celebrating Down Syndrome with Parent & Nurse Jenness Stock

КОМЕНТАРІ

  • @jeanhargis7333
    @jeanhargis7333 3 дні тому

    So is there a drug that prevents or slows down dementia?

  • @manita2653
    @manita2653 7 днів тому

    First time watching this channel. Thank you for sharing this important story about this amazing family. Kira, I wish you didn’t interrupt Lindsay Mary. Let her speak. Please. Lindsay Mary you are a person who so lovingly cares for your siblings. You are amazing. Thank you for sharing your life story. 🌟🌸

  • @tannereustace
    @tannereustace 10 днів тому

    Thank you so much for this! As an aspiring genetic counselor hoping to apply for grad school, it is so nice to be able to show this to those who don’t quite understand it!

    • @DNATodayPodcast
      @DNATodayPodcast 10 днів тому

      You are SO welcome. We are excited to share more soon :)

    • @tannereustace
      @tannereustace 9 днів тому

      @@DNATodayPodcastit could also be really cool if you did another variation of this, like prenatal genetic counseling in regard to a sex chromosome condition!

  • @kadelu1137
    @kadelu1137 17 днів тому

    Thanks for this. Im trying to inform myself before potentially doing a test

  • @susanwallbrown7889
    @susanwallbrown7889 19 днів тому

    Problem is 12 children! They were overwhelmed on a good day! Both parents in denial for a long time. Older sick siblings watching over the younger ones is one of the problems. Too many children! Just because you’re Catholic and Irish doesn’t mean you should breed like rabbits

  • @meowrasaur
    @meowrasaur 19 днів тому

    So happy you get to meet the amazing Dr. Francis Collins, Kira! Thats so cool 🥹 wish I get to meet him, too

  • @abellaenfie
    @abellaenfie 21 день тому

    I have CMS (diagnosed when I was a baby) and it is so tough to live with it for me. I hope they can find a true treatment soon.

  • @Tlzh-t9c
    @Tlzh-t9c 23 дні тому

    The verdict is worldwide. He is not allowed to donate to new parents globally

  • @cbl3628
    @cbl3628 Місяць тому

    OMG, for the first time I feel like I can get good information into the how and why we need to arrange for my daughter's life after me. There needs to be A Place for my daughter to be treated compassionately - least intrusive atmosphere. We aren't millionaires.

  • @SamSung-nf6tr
    @SamSung-nf6tr Місяць тому

    I grew up with Schizophrenic Brothers. It is very unfair for Mary to expect the well siblings to take care of her brothers. They too are traumatized. Every time they see them they are traumatized. What they did to their son was awful. Mary is a good person but in her own way wrong.

  • @tiffanymccray9361
    @tiffanymccray9361 Місяць тому

    I was diagnosed with Wilson’s disease just a few months ago. I have two genetic markers. My mother and sister are carriers. I’m 46 years old. I’ve been having severe dystonia and non epileptic seizures since 2019. It wasn’t until this past July that I was diagnosed. They have me only taking zinc because I have more neurological symptoms. I’ve had a neurologist tell me that Wilson’s isn’t linked to non epileptic seizures. I would absolutely love to talk to you more about this… Can I please send over my email?

  • @ellec2983
    @ellec2983 Місяць тому

    Such enormous unrelenting grief, sadness, loss, chaos, confusion and heartbreak this family have endured. The mother must have been heroic and extremely resilient. My heartfelt love goes to all this family. Lindsay Mary Rauch is an angel. Dirty priest molesting the boys and using his friendship with the mother to access her kids. OMG.

  • @CareyTisdal
    @CareyTisdal Місяць тому

    Thank you! This was so informative. Please post the link for the Compassion Bill on the NIH website. I can do this myself, and I can encourage friends to do it!

  • @ritamulloy3522
    @ritamulloy3522 Місяць тому

    Two of my brothers had schizophrenia. They were diagnosed after returning from the Vietnam war. We were catholic as well and mom sent some of us to catholic school. We weren’t fanatics although my mom’s family were a bit extreme compared to us. They always had good humor which made it tolerable. My brothers were both treated by the veterans hospital. They were in and out of the hospital all of their adult lives and died in their forties for one and the other in his fifties. It seemed to basically ruin my family even though we tried our best not to let it. It was just too much and went on too long

  • @andreamerlin223
    @andreamerlin223 Місяць тому

    My mother was type 1 bi-polar with 5 children born close in age. My younger sister was diagnosed with schizophrenia at the age of 19. I was diagnosed at an older age of type 2 bi-polar. Our family life was chaotic and horrific. We're now all in our 60's, our mother has passed and my older normal sister and I supervise the schizophrenic sister. On the spectrum my ill sister is mostly able to exist as a disabled person. Seeing my mother put in a straight jacket multiple times growing up, when my illness developed I made certain I went to a psychiatrist and kept strictly compliant with my medication because I was terrified I would become like my mother, delusional, hallucinating, hearing voices. I was married, had a son to raise, a job to keep. To this day I regularly see my psychiatrist and keep on my meds. I was lucky enough to recognize that I had a mental condition. The lack of available government treatment for those like my sister who do not recognize her illness is disastrous. I don't know what will happen to her when Im no longer on this earth to oversee her.

  • @Teaally1913
    @Teaally1913 Місяць тому

    I just watched this HBO documentary. This is terrible and very saddening. ALL of the children growing up in this family had to have terrible experiences and traumatic memories. I think it is admirable of this sister keeps a check of her sick brothers. If the other children choose not to, I think that is their choice.not this sister.

  • @GreatGreebo
    @GreatGreebo Місяць тому

    *Thank you* Mary for this brilliant interview. I now plan to read the book about her family’s huge contribution to schizophrenic research. Well done both of you for creating such an educational video, *BRAVO 👏 👏* I believe Mary is referencing *Henrietta Lacks* and her “immortal” cells (HeLa Cells) used in every aspect of research since the 50’s or so. Henrietta never gave consent (nor was she ever asked). She died either before or shortly after her cells were “discovered” and were then used for decades without her family knowing about her *massive* contributions to many medical breakthroughs. Her HeLa Cells have collectively saved many, many millions of lives through the research her cells enabled. *Thank you* to every family who enables these kinds of research projects to further treatments (and cures) for so many different illnesses.

  • @cdwarden45
    @cdwarden45 Місяць тому

    Thank you for posting. I mentioned an earlier episode of _DNA Today_ in an _edX MITx_ course and I was going to add a link to this video (along with the other podcast). However, I think there is only a *partial* upload that ends at 24:02 (instead of being closer to 40 minutes)?

  • @kelliewarren9974
    @kelliewarren9974 Місяць тому

    Hi I just learned that I have WE since ladtsprng I am 54 yrs old and I want to learn more about it.

  • @paulaoppedisano6460
    @paulaoppedisano6460 Місяць тому

    How did your Mom have the gene yet not develope schizophrenia living with so much stress?

    • @ahermannblue
      @ahermannblue Місяць тому

      Genes have different degrees of penetrance. Also, estrogen is thought to have a mitigating effect on several brain disorders.

  • @paulaoppedisano6460
    @paulaoppedisano6460 Місяць тому

    My mother had schizophrenia and I’m the youngest of three siblings. This is the first time I’ve heard someone so succinctly describe the experience, “ what is real and what’s not? “ I grew up terrified that my mother would kill me bc she focused on me when she was psychotic and once came at me with her hands to strangle me. She would wake me up in the middle of the night screaming that there were spiders in my brothers bed and burglars at my bedroom window. My father would come get her and I’d be left alone- not being able to sleep and the only explanation was that “ your mother is sick”. We were left alone with her a lot because my father had to work and there was no help for family members then- I developed anxiety and depression and after she tried to kill herself I coped with alcohol. The good news is that I’ve been in AA for 35 years and in recovery I was able to heal and live a happy life. I still have survivors guilt for having a happy life when my mothers was horrific. So I press forward towards the goal of self actualizing and helping the mentally ill and there families however I can. Thank you from the bottom of my heart 💜

  • @ginaesrar9945
    @ginaesrar9945 Місяць тому

    Cannabis and Facio Scapulo Humeral Muscular Dystrophy, Minnesota. We do NOT need BiopHARMa!!!!!! I am sooo sick of being lied to, manipulated, and fear mongered by these companies that try to make us think they're the only ones that can help us treat FSHD effectively. It's simply NOT true at all!! I have restored my lost movement, strength, and muscle with medical cannabis, and a multi-disciplinary approach. It took years, but it's better than being poisoned by some MRNA nanoparticle poison that is going to alter my genetic code, and make me suffer all sorts of toxic side effects, and go through needless invasive procedures. NO THANKS!!!!!

  • @val_smiling
    @val_smiling 2 місяці тому

    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.

  • @il3mendo
    @il3mendo 2 місяці тому

    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 ?

  • @moldiebread1003
    @moldiebread1003 2 місяці тому

    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.

  • @narek335
    @narek335 2 місяці тому

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

  • @alimelad2020
    @alimelad2020 3 місяці тому

    Can I join like these conferences

  • @calliehill784
    @calliehill784 3 місяці тому

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

  • @quikdraw5203
    @quikdraw5203 3 місяці тому

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

  • @RicondaRacing
    @RicondaRacing 3 місяці тому

    That's my uncle

  • @cdwarden45
    @cdwarden45 3 місяці тому

    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!

  • @TheProactivePatients
    @TheProactivePatients 3 місяці тому

    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.

    • @drchimrichalds6752
      @drchimrichalds6752 3 місяці тому

      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.

    • @TheProactivePatients
      @TheProactivePatients 3 місяці тому

      @@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.

  • @autisticdan6151
    @autisticdan6151 4 місяці тому

    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.

  • @angeliqueroman4387
    @angeliqueroman4387 4 місяці тому

    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 😢

  • @ohboy111
    @ohboy111 4 місяці тому

    i think i have KS along with other many problems

  • @Kasstle
    @Kasstle 4 місяці тому

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

  • @YounusAli-tm9iz
    @YounusAli-tm9iz 4 місяці тому

    ❤❤❤

  • @shannongreenwell1278
    @shannongreenwell1278 5 місяців тому

    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.

  • @marjabinnendijk682
    @marjabinnendijk682 5 місяців тому

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

  • @tianahearle7243
    @tianahearle7243 5 місяців тому

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

  • @kaia-leeelisaia
    @kaia-leeelisaia 5 місяців тому

    I was born with klynfelter syndrome

  • @autisticdan6151
    @autisticdan6151 5 місяців тому

    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.

  • @cdwarden45
    @cdwarden45 5 місяців тому

    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!

  • @melissafarrugia9531
    @melissafarrugia9531 5 місяців тому

    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?

  • @PressPowerPlay
    @PressPowerPlay 6 місяців тому

    I wish it was still $300 😂

    • @mysecondlifeca
      @mysecondlifeca 6 місяців тому

      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.

  • @Dassass1
    @Dassass1 6 місяців тому

    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!

  • @eileendingli5482
    @eileendingli5482 6 місяців тому

    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.

  • @jaimedeleon1194
    @jaimedeleon1194 6 місяців тому

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

  • @MamaAng-o1v
    @MamaAng-o1v 7 місяців тому

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

  • @jnzk6467
    @jnzk6467 7 місяців тому

    Staaaahhhp…. The song 😩