Podcasts about fragile x

Tune in for our first ever Q&A episode! We're excited to answer your questions about all things Fragile X!

On this episode of Talking Away The Taboo, Estie Rose, MS, CGC, Heather Hipp, MD, and Gail Heyman, join Aimee Baron, MD for the second episode of our 5-part IWSTHAB x JSCREEN Podcast series is all about Fragile X. When people think of genetic testing before pregnancy, they often think of Tay-Sachs or cystic fibrosis—but Fragile X is just as important and far less understood. In this episode, Estie Rose and Dr. Heather Hipp explain the difference between recessive and X-linked conditions, what it means to be a Fragile X carrier, and how it can affect fertility and family planning. We also hear from Gail Heyman, who shares her deeply personal journey navigating Fragile X in her own family—and how that led her to advocacy. Whether you're building your family or supporting someone who is, this episode is filled with insight, honesty, and heart. -Click here to watch Part 1: Introduction to Genetics and Infertility More about Estie:  Estie Rose is a certified genetic counselor at jscreen. She has a special interest in community education and serves as a resource for individuals who are facing genetic health issues. Connect with Estie:  -Follow her on Instagram More about Heather: Dr. Heather Hipp is a Reproductive Endocrinology and Infertility (REI) physician and an Associate Professor at Emory University School of Medicine. She earned her undergraduate degree at Duke University and then her MD degree at Emory University, where she continued her training in residency and fellowship. She is the Program Director for the REI fellowship at Emory and serves as chair for the American Society for Reproductive Medicine Education Committee. Her profession memberships include American College of Obstetrics and Gynecology, American Society for Reproductive Medicine, Alpha Omega Alpha Honor Society, and American Gynecological & Obstetrical Society. She is also on the National Fragile X Foundation Scientific and Clinical Advisory Committee. Her research focuses on women who are carriers for the fragile X mutation and their risk of premature ovarian insufficiency, as well as trends and outcomes of in-vitro fertilization (IVF) in the United States. More about Gail:   Gail Heyman is a passionate advocate and leader in the Fragile X community. After her son was diagnosed in 1989, she co-founded the Fragile X Association of Georgia and has served as its director ever since. Her family's experience—spanning three generations affected by Fragile X conditions—fuels her tireless work to raise awareness, promote research, and support others navigating similar challenges. Gail also serves on JScreen's advisory board and has received national recognition for her leadership in genetic advocacy and inclusion. -Click here to learn more about Gail's story -Check out Carly Heyman's book, My eXtra Special Brother -Learn more about Fragile X here Connect with JScreen:  -Visit their website -Coupon Code: IWSTHAB18 for $18 off initial testing (no expiration date on this offer) -Follow JScreen on Instagram Connect with us:  -Check out our Website - Follow us on Instagram and send us a message -Watch our TikToks -Follow us on Facebook -Watch us on YouTube

When my son was diagnosed with autism at age two—and later with Fragile X syndrome—I entered a kind of grief I wasn't prepared for. It wasn't loud or dramatic. It was quiet, slow, and deeply sacred. It was the grief of letting go of the life I imagined and learning to embrace the one God was writing.In this deeply personal episode, I open up about the pain, surrender, and beauty that come with raising a child with special needs while clinging to faith in Jesus. I talk about the silent ache of broken expectations, the sacredness of honest lament, and the unexpected closeness of God in the middle of it all.Grief doesn't always come from death—it often comes from the loss of an idea, a dream, or a version of life we thought we'd have. But even there, God is present. Even in our most unspoken sorrows, He is faithful. And even when healing doesn't look the way we hoped, He still gets the glory.If you've ever carried a grief you didn't choose, or wrestled with faith in the face of life's hardest questions, this episode is for you. May it remind you that you're not alone—and that hope still lives here, too.Listen now on all audio platforms.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

In this episode, we dive into a fascinating discussion about the intersection of scientific research and therapeutic practice. Tracy shares a heartfelt experience of hosting scientists at the Developmental FX clinic, where they observed therapy sessions for individuals with Fragile X syndrome, autism, and other developmental disorders. The conversation highlights the importance of integrated models of care, the subtle yet profound impact of high-quality therapy, and the critical role of co-regulation. We also reflect on the teachings of Dr. Ayers, the challenges and rewards of being a therapist, and the significance of collaborative partnerships in advancing child development.TIMESTAMPS00:00 Introduction and Greetings02:15 A Day at Developmental FX05:17 The Nuances of Therapy10:51 Challenges and Reflections17:24 The Importance of Co-Regulation22:15 Translating Theory into Practice34:07 Celebrating the Team's WorkConnect with us: Instagram: https://www.instagram.com/spiritedconversations_ot/Facebook: https://www.facebook.com/spiritedconversationsOTYouTube: https://www.youtube.com/@spiritedconversations_OTWebsite: https://www.spiritedconversationspodcast.com/Loved this episode and want an easy cost-free way to support us? Subscribe to our youtube channel! Hosted on Acast. See acast.com/privacy for more information.

Nicole Smith is the podcast host of TalkFragileX. She is a mom, a fragile X advocate and a mother to a son with Fragile X syndrome. Today on the podcast we discuss what Fragile X is, the research they are currently doing and how we as moms and advocates can do what's best for our children. Find her podcast here or wherever you get your podcasts. Follow her on IG @talkfragileXlearn more about what is happening in the fragileX world here: The National Fragile X Foundation | Fragile X SyndromeFollow along on social media at @coffeewithkacey and check out my website :kaceymae.com

Rare condition research is evolving, and patient communities are driving the breakthrough. In this special Rare Disease Day episode, we explore the challenges and opportunities shaping the future of rare condition therapies. From groundbreaking gene therapy trials to the power of patient-driven research, our guests discuss how collaboration between families, clinicians, researchers, and regulators is paving the way for faster diagnoses, equitable access to treatments, and innovative approaches like nucleic acid therapies and CRISPR gene editing. With insights from Myotubular Trust, we follow the journey of family-led patient communities and their impact on advancing gene therapy for myotubular myopathy - showcasing how lived experience is shaping the future of medicine. However, while patient-driven initiatives have led to incredible progress, not every family has the time, resources, or networks to lead these research efforts. Our guests discuss initiatives like the UK Platform for Nucleic Acid Therapies (UPNAT), which aims to streamline the development of innovative treatments and ensure equitable access for everyone impacted by rare conditions. Our host Dr Ana Lisa Tavares, Clinical lead for rare disease at Genomics England, is joined by Meriel McEntagart, Clinical lead for rare disease technologies at Genomics England, Anne Lennox, Founder and CEO of Myotubular Trust and Dr Carlo Rinaldi, Professor of Molecular and Translational Neuroscience at University of Oxford. "My dream is in 5 to 10 years time, an individual with a rare disease is identified in the clinic, perhaps even before symptoms have manifested. And at that exact time, the day of the diagnosis becomes also a day of hope, in a way, where immediately the researcher that sent the genetics lab flags that specific variant or specific mutations. We know exactly which is the best genetic therapy to go after." You can download the transcript, or read it below. Ana Lisa: Welcome to Behind the Genes.    [Music plays]  Anne: What we've understood is that the knowledge and experience of families and patients is even more vital than we've all been going on about for a long time. Because the issue of there being a liver complication in myotubular myopathy has been hiding in plain sight all this time, because if you asked any family, they would tell you, “Yes, my son has had the odd liver result.”  There were some very serious liver complications but everybody thought that was a minor issue, but if we are able to engage the people who live with the disease and the people who observe the disease at a much more fundamental level we may be able to see more about what these rare genes are doing.  [Music plays]  Ana Lisa: My name is Ana Lisa Tavares, I'm Clinical Lead for Rare Disease research at Genomics England and your host for this episode of Behind the Genes. Today I'm joined by Anne Lennox, Founder and CEO of the Myotubular Trust, Dr Meriel McEntagart, an NHS consultant and Clinical Lead for Rare Disease Technologies at Genomics England, and Dr Carlo Rinaldi, Professor of Molecular and Translational Neuroscience at the University of Oxford.    Today we'll be hearing about the importance of involving the patient community, particularly as new rare therapies are developed, and discussing the forward-facing work that's happening that could have potential to unlock novel treatments for many rare conditions.  If you enjoy today's episode we'd love your support. Please like, share and rate us on wherever you listen to your podcasts. Thank you so much for joining me today.  Please could you introduce yourselves.   Anne: I'm Anne Lennox, I'm one of the founders of the Myotubular Trust, a charity that raises research funds for and supports families affected by the rare genetic neuromuscular disorder myotubular myopathy.  Meriel: I'm Meriel McEntagart, I'm a consultant in clinical genetics in the NHS and I have a special interest in neurogenic and neuromuscular conditions.  Carlo: Hi, I'm Carlo Rinaldi, I'm Professor of Molecular and Translational Neuroscience at the University of Oxford. I'm a clinician scientist juggling my time between the clinic and the lab where we try to understand mechanisms of diseases to develop treatments for these conditions.  And I'm also here as a representative of the UK Platform for Nucleic Acid Therapies, UPNAT. Thanks for your invitation, I'm very pleased to be here.  Ana Lisa: Thank you. Meriel, I'd love you to tell us a bit about your work and how you met Anne, how did this story start?  Meriel: Thank you. Well prior to being a consultant in clinical genetics, I spent 2 years as a clinical research fellow in neuromuscular conditions, and as part of that training I worked on a project where the gene for myotubular myopathy had just been identified, and so there was a big international effort to try and come up with sort of a registry of all the genetic variants that had been found as well as all the clinical symptoms that the affected patients had, and then do kind of a correlation of the particular variant mutation with symptoms.   I worked when I was training to be a clinical geneticist because of my interest in neuromuscular conditions so when I eventually became a consultant at St George's Hospital I was actually interviewed by the Professor of Paediatrics and he knew Anne and her son, when Anne was looking for more information about the condition he suggested that perhaps I might be a good person for Anne to talk to.  Ana Lisa: Thank you. Interesting connections. Anne, can you tell us your story and how this led you to found the Myotubular Trust?  Anne: Yes, thanks Ana-Lisa.  Well, as many families will tell you when they're newly diagnosed with a rare disease, you go from knowing nothing about a condition to being one of the few deep experts in that condition because there are so few deep experts. So this happened to us in 2003 when our son, Tom, was born, and when he was born he was floppy and his Apgar scores, the scores they do on new-born babies, were pretty poor, and before long we knew that it was more than just momentary issues at birth.  And, cutting a very long story short, 5 weeks later he was diagnosed with this very rare neuromuscular genetic disorder that we didn't know we had in the family.  We were told that this was a very serious diagnosis.    At that time – more than 20 years ago – over 80% of those boys didn't make it to their first birthday and the stark statistic we had in our head a lot was that only 1% made it past the age of 10. And that has changed due to better ventilator and breathing equipment, etc, but at the time we expected that he might not make it to his first birthday.    We were very lucky, we had Tom longer than one year, we had him for nearly 4 years, 4 very lovely years where it was tough, but he was a really lovely member of our family.  Despite being really weak he managed to be incredibly cheeky and bossy, and he was a great little brother for his big sister. We were also very lucky that he was being looked after by Professor Francesco Muntoni, who is Head of the Paediatric Neuromuscular Service at Great Ormond Street. And, like Carlo, he is a clinical researcher and actually that I found to be amazing as a family member because you knew what was happening out there and Professor Muntoni, other than living with the reality day to day you want to know where things are going.    We began to realise that back then 20 years ago the more common rare neuromuscular diseases were finally beginning to get some fundamental research funds, like Duchenne, spinal muscular atrophy, and Professor Muntoni was very good at explaining to lay non-scientific parents like us that one day the technologies that would lead to a cure, that would re-engage proteins for other conditions and would translate down eventually into the possibility of replacing myotubularin, which is the protein not being produced or not being produced enough in myotubular myopathy. And then we began to understand actually what the barriers to that would be, that translating developments in more common, or let's say more prevalent conditions, would be hard to do without some translation research being done; you could not just not lag years behind, you could lag decades behind if you haven't done some other work.    So, I met Wendy Hughes, another mother, of a boy called Zak who was a few years older than Tom, and these were the days before social media, and it was amazing to be in contact with another family going through something similar and we had great conversations. But then they were also looked after by Professor Muntoni and we particularly began to develop the idea as 2 families that we might be able to raise some research funds towards this concept of keeping pace with the scientific developments.  And then we discovered there was no charity we could channel those funds through. Even the umbrella body for neuromuscular diseases who were covering 30 to 40 conditions, frankly, they just couldn't trickle their funding down into investing in every neuromuscular disease, and slowly but surely it dawned on us that if we did want to make that difference we were going to have to set up our own charity.   So that's what we eventually did and back in 2006, we founded what was actually the first charity in Europe dedicated to myotubular myopathy – luckily, more have come along since – and we were dedicated to raising research funding. In fact, it wasn't our goal to set up another charity but around that time, about a year in, we happened to go to a meeting where the Head of the MRC, the Medical Research Council, was giving a talk and he said that in the last few years the MRC had begun to really realise that they couldn't cure everything, that they couldn't cure the diseases that would be cured in the next millennium from a top down perspective. There had to be a trick, there had to be a bottom up as well, because that was the only way this was going to happen. And I have to say that that was a really reassuring moment in time for us to realise that we weren't just chasing pipe dreams and trying to do something impossible, that there was a role for us.    Ana Lisa: I think it would be really interesting for people to hear your story and the amazing set-up and fundraising that you've done, and at the same time it would be really good for us to reflect on how this isn't feasible for every patient and every family and how we're going to need to work cooperatively to move forwards with rare therapies.  Anne: When we explored the idea with Professor Muntoni and Meriel and others about setting up a charity one of the really reassuring things that Professor Muntoni got across to us was that this wasn't about raising the millions and millions it would take to fund clinical trials but the issue in the rare disease space was funding the proof of principle work, the work where you take a scientist's hypothesis and take it over the line, and the rarer the disease, the less places there are for a scientist to take those ideas. And the example he gave us was a piece of research like that might cost a hundred to a couple of hundred thousand, if you fund a piece of work like that and if it is successful, if the scientist's principle gets proven, then behind you it's much easier for the bigger muscle disease charities to also invest in it. It's harder for them to spread their money across all the very rare diseases hypothesis out there, but if you've helped a scientist get over the line they'll come in behind you and then they won't be the ones who fund the tens of millions that it takes to run a clinical trial.    If it's got potential, then that's where the commercial world comes in, and that's where the biotechs come in. So he'd given the example of if you spent £ten0,000 on a piece of research and it actually is proven, in behind you will come the bigger charities that would put in the million that takes it to the next phase, and in behind them will come the bio-checks that'll provide biotechs that'll provide the tens of millions.    And then, you know, a lot of what happens relies on serendipity as well, we know that, and you could easily run away with the idea that you made everything happen but you don't, you stand on the shoulders of others. And our very first grant application in our first grant round, which received extraordinary peer review for how excellent the application was, was a £100,000 project for a 3-year project that had gene therapy at the core of it by a researcher called Dr Ana Buj Bello at Généthon in Paris. This piece of research was so promising that 18 months in she and another researcher were able to raise $780,000 and, as Professor Muntoni predicted, from the French muscle disease charity AFM and the American muscle diseases charity MDA.  And 18 months into that 3 years it was so promising that a biotech company was started up with $30 million funding, literally just on her work.    So that doesn't always happen but, as Professor Muntoni explained, our job was not that $30 million, our job was that first £100,000, and our job was also to make ourselves known to the people in the neuromuscular field.  If you have lab time, if you have research time and you have a choice where you're putting it there is a place you can go to for a myotubular myopathy related grant application, so it's not just that this will come to us out of the blue, people will have done prior work, and our existence makes it worth their while, hopefully, to have done that prior work.  Ana Lisa: That's an amazing story how you've set up this charity and how successful that first application for gene therapy was. I'd love to hear more about that gene therapy and did it get to the clinic and to hear that story from you.  Because I think there are a lot of learnings and it's really important that the first patients who are treated, the first families that are involved, the researchers who start researching in this area, the first treatments lead the way and we learn for all the other treatments for all the other rare conditions that we hope and that together as a community we can share these learnings.  Anne: Yeah. I sometimes describe it a bit like going out into space. When you see a rocket going off look at how many people are behind and the amount of work that's been done, the degree of detail that's managed, and then you go out into space and there are a whole load of unknowns, and you can't account for all of them.  Who knows what's out there in this sphere.  But the amount of preparation, it feels similar to me now, looking back.  We were so idealistic at the beginning.  Our grant to Dr Buj Bello was 2008 and actually it is a really fast time in, the first child was dosed in the gene therapy trial in September 2017.  Ana Lisa: So, we're talking less than 1 years.  Anne: Yeah. And in the meantime obviously as a charity we're also funding other proof of principle research. One of the founding principles of the charity was to have a really excellent peer review process and scientific advisory board so that we wouldn't get carried away with excitement about one lab, one research team, that everything would always come back to peer review and would be looked at coldly, objectively. I don't know how many times I've sat in a scientific advisory board meeting with my fingers crossed hoping that a certain application would get through because it looked wonderful to me, and then the peer review comes back and there are things you just don't know as a patient organisation. So, yes, in those 9 years we were also funding other work.  Ana Lisa: You've just given an interesting perspective on sharing the learnings between the scientists, clinicians, the experts in a particular condition, if you like, and the families, and I'd be really interested to hear your views on what's been learnt about how families and the patient community can also teach the clinical and scientific community.  Anne: So, the first child was dosed in September 2017 and by the World Muscle Society Conference 2 years later in October 2019 the biotech had some fantastic results to show. Children who had been 24-hour ventilated were now ventilator-free, which, unless you know what it's like to have somebody in front of you who's ventilator-dependent, the idea that they could become ventilator-free is just extraordinary.    However, one of the things we've learnt about gene therapy is that we are going out into space so there are extraordinary things to be found, and extraordinary results are possible, as is evidenced here, but there is so much that we don't know once we are dealing with gene therapy. So unfortunately, in May, June and August of 2020, 3 little boys died on the clinical trial. So we have a clinical trial where the most extraordinary results are possible, and the worst results are possible, and both of those things are down to the gene…  What we discovered and what is still being uncovered and discovered is that myotubular myopathy is not just a neuromuscular disorder, it is a disorder of the liver too, and these children didn't die of an immune response, which is what everybody assumes is going to happen in these trials, they died of liver complications.    And one of the things that has come out of that, well, 2 sides to that. Number one is that it is extraordinary that we have found a treatment that makes every single muscle cell in the body pick up the protein that was missing and produce that protein, but also what we've understood is that the knowledge and experience of families and patients is even more vital than we've all been going on about for a long time. Because the issue of there being a liver complication in myotubular myopathy has been hiding in plain sight all this time, because if you asked any family they would tell you, “Yes, my son has had the odd liver result, yes.”    We could see something that looked like it was not that relevant because it was outside the big picture of the disease, which was about breathing and walking and muscles, but actually there was this thing going on at the same time where the children had liver complications. There were some very serious liver complications but everybody thought that was a minor issue but if we are able to engage the people who live with the disease and the people who observe the disease at a much more fundamental level we may be able to see more about what these rare genes are doing.  Ana Lisa: Yeah, thank you very much for sharing such a moving story and with such powerful lessons for the whole community about how we listen to the expertise that families have about their condition, and also I think the really important point about how we tackle the research funding so that we're including and sharing learnings from the conditions that are initially studied in greater depth, and we hope that many more conditions will be better understood and more treatments found and that actually the learnings from these first gene therapy trials will really help inform future trials, not just for gene therapies but also for many other novel therapies that are being developed.  [Music plays] If you're enjoying what you've heard today, and you'd like to hear some more great tales from the genomics coalface, why don't you join us on The Road to Genome podcast. Where our host Helen Bethel, chats to the professionals, experts and patients involved in genomics today. In our new series, Helen talks to a fantastic array of guests, including the rapping consultant, clinical geneticist, Professor Julian Barwell, about Fragile X syndrome, cancer genomics and a holistic approach to his practice - a genuine mic-drop of an interview. The Road to Genome is available wherever you get your podcasts. [Music plays] Ana Lisa: Carlo, I would really like to come to you about some of the initiatives that are happening in the UK, and particularly it would be really interesting to hear about the UK Platform for Nucleic Acid Therapies as a sort of shining example of trying to do something at a national scale across potentially many different rare conditions.    Carlo: Thanks, Ana-Lisa. Thanks very much, Anne, for sharing your fantastic story. I mean, I just want to iterate that as clinician scientists we do constantly learn from experiences and constantly learn from you, from the patient community, and this is absolutely valuable to push the boundary. And I really liked your vision of a rocket being launched in space and I would imagine that this is a similar situation here. So, we are facing a major challenge. So, there is over 7,000 rare diseases in the world and with improvements of genetic diagnosis this is only increasing. So, in a way rare diseases is the ultimate frontier of personalised medicine and this poses incredible challenges.   So, you mentioned the bottom-up approach and the top-down approach and in a way, both are absolutely necessary. So your story is a fantastic story but also makes me think of all the other families where they don't share perhaps the same spirit, you know, they are in areas of the world that are not as well connected or informed, where patient community simply cannot be ‘nucleated', let's say, around the family. So, there is definitely an issue of inclusivity and fair access.    So, what we're trying to do at UPNAT, which is the UK Platform for Nucleic Acid Therapy, is to try to streamline the development both at preclinical and clinical level of nucleic acid therapies. So, we'll start with antisense oligonucleotides just because those are the molecules of the class of drugs that are most ‘mature', let's say, in clinic. So, there are several antisense oligonucleotides already approved in the clinic, we know that they are reasonably safe, we understand them quite well, but of course the aspiration is to then progress into other forms of gene therapy, including gene editing approaches, for example.   And one of the activities that I'm involved, together with Professor Muntoni, is to try to streamline the regulatory process of such therapies and in particular curate a registry of, for example, side effects associated with nucleic acid therapy in the real world, and you would be surprised that this is something that is not yet available.  And the point is exactly that, it's trying to understand and learn from previous mistakes perhaps or previous experiences more in general.    And this is very much in synergy with other activities in the UK in the rare disease domain.  I'm thinking of the Rare Disease Therapy Launchpad, I'm thinking of the Oxford Harrington Centre, I am thinking of the recently funded MRC CoRE in Therapeutic Genomics. These are all very synergistic. Our point is we want to try to amplify the voice of the patient, the voice of the clinicians working on rare disease, and we want to systematise. Because of course one of the risks of rare disease therapies is the fragmentation that we do all these things in isolation. And I would argue that the UK at the moment leveraging on the relatively flexible and independent regulatory agencies, such as the MHRA, on the enormous amount of genetics data available through Genomics England, and of course the centralised healthcare system, such as the NHS, is really probably the best place in the world to do research in the rare disease area, and probably I'm allowed to say it because I'm a non-UK native.       Ana Lisa: Thank you, that's a brilliant perspective, Carlo, and across all the different therapeutic initiatives that you're involved with. And, Carlo, presumably - we're all hoping - these different initiatives will actually lead to ultimately a bigger scaling as more and more novel therapies that target both our RNA and DNA and actually are working, I guess further upstream in the pathway.    So classically in the past it's been necessary to work out all the underlying biology, find a druggable target somewhere in that pathway and then get a larger enough clinical trial, which can be nearly impossible with many of the rare and ultra-rare conditions or even, as you've said, the sub-setting down of more common condition into rarer subtypes that perhaps can be treated in different ways.  And with the many new different treatments on the horizon, ASO therapies, as you've said, is a place that's rapidly expanding, and also crisper gene editing. I'd be really interested to hear your reflections on how this might scale and also how it might extend to other new treatments.  Carlo: Yeah, that's exactly the right word, ‘scaling up'. I mean, there will be of course very unique challenges to every single rare disease but I would argue that with genetic therapies, such as ASOs or crisper gene editing, the amount of functional work that you need to do in a lab to prove yourself and the scientific community that this is the right approach to go for can be certainly very important but can be less just because you're addressing very directly because of the disease.    And then there are commonalities to all these approaches and possibly, you know, a platform approach type of regulatory approval might serve in that regard. You know, if you are using the same chemistry of these antisense oligonucleotides and, you know, similar doses, in a way the amount of work that you need to produce to again make sure that the approach is indeed a safe approach and an effective approach might be also reduced.    I would say that there are also challenges on other aspects of course, as you were saying, Ana-Lisa. Certainly the typical or standard randomised placebo control trial that is the standard and ultimate trial that we use in a clinical setting to prove that a molecule is better than a placebo is many times in the context of rare diseases simply not possible, so we need to think of other ways to prove that a drug is safe and is effective.   This is something that we all collectively as a scientific community are trying to address, and the alliance with the regulatory agencies, such as the MHRA, and you said that you have found your interaction with the MHRA very positive, and I can tell you exactly the same. So we are all trying to go for the same goal, effectively, so trying to find a way to systematise, platformise these sort of approaches. And I guess starting with antisense oligonucleotides is really the right place to go because it's a class of drugs that we have known for a long time, and we know it can work.  Ana Lisa: Meriel, can you tell us a little about the National Genomic Research Library at Genomics England and how this could link with initiatives to find many more patients as new treatments become available for rare and ultra-rare conditions?  Meriel: Yes, I think what's wonderful now is actually that what we're really trying to do is give everybody the opportunity to have their rare condition specifically diagnosed at the molecular level, and the way in which that is being done is by offering whole genome sequencing in the NHS currently in England but to all patients with rare diseases.    And so, it's about trying to establish their diagnosis. And as well as that, even if the diagnosis isn't definitely made at the first pass when the clinical scientists look at the data, because the whole genome has been sequenced, actually all that information about their genome, if they consent, can then be put into the National Genomics Research Library.  And that is a fantastic resource for national and international researchers who get approved to work in this trusted research environment to make new disease gene discoveries and identify these diagnoses for patients.  What's also offered by Genomics England as well is when the National Genomics Library data results in a new publication, the discovery of a new gene or perhaps a new molecular mechanism that causes a disease we already know about, that feeds back into the diagnostic discovery pathway within Genomics England back onto the diagnostic side of all the data.    So, patients who may have had genetic testing previously using whole genome sequencing where they've, if you like, had their sequencing done before the diagnosis was sort of known about, will also be picked up. And so, what this is really doing is trying to kind of give this really equal platform for everybody having testing to all have the same opportunity to have their diagnosis made, either on the diagnostic side or with research.  Ana Lisa: So, sort of on a cohort-wide scale as new discoveries are made and published you can go back and find those patients that may actually have that diagnosis and get it back to them, which is brilliant.  Meriel: Exactly. And this speeds up the whole process of getting these diagnoses back to people. So on a regular basis in the NHS, we will get feedback from the Diagnostic Discovery Pathway about “Here's some patients who you requested whole genome sequencing from a number of years ago and actually now we think we know what the particular molecular condition is.”  And so, it's key of course for our patients with rare conditions to make that molecular diagnosis because then we're able to have them identified for our colleagues who are doing this ground-breaking research trying to bring therapies for these rare conditions.  Ana Lisa: Thank you. And I hope that, as currently, if a novel genetic mechanism, as you've just described, is identified that could explain a rare condition that those patients can be found and they can receive that diagnosis, even many years later, and hopefully as novel treatments become available and say there's a chance to individualise ASO therapies, for example, to start with, that one could also go and look for patients with particular variants that could be amenable potentially to that treatment. And that's really sort of exciting that one could look for those patients across England, irrespective of which clinic they're under, which specialist they're under, and I think that could be really powerful as new treatments develop. I suppose, Meriel, if somebody comes to see you now in clinic are things different?  Meriel: Well, I think one of the things for me when patients come to clinic now is we might have an idea about what we think their condition is, maybe even we think it's a specific gene. And we can offer whole genome sequencing and so it's not just the way we used to do things before by looking just at the coding regions of the gene, we can find more unusual ways in which the gene can be perturbed using whole genome sequencing.  But let's say we don't make the diagnosis. I encourage my patients, if they're comfortable with it, to join the National Genomics Research Library, because really it's been incredibly productive seeing the new genetic discoveries that are coming out of that, but as well I say to them, even if we don't get the diagnosis the first time round when we look at the data, actually this is a constant cycle of relooking at their data, either if they're in the NGRL or as well on the Diagnostic Discovery Pathway side of the service that's run by Genomics England. So yeah, I feel like it's a very big difference; they don't have to keep coming every year and saying, “Is there a new test?” because actually they've had an excellent test, it's just developing our skills to really analyse it well.  Ana Lisa: Yes, and our knowledge, the technology and the skills keep evolving, certainly.  And I think one of the things that I'm sort of hearing from this conversation is that balance of hope and realism, Carlo we were talking about earlier how you need all the pieces of the puzzle to be lined up - so the regulatory agency, the clinicians, all the preclinical work has to have been done, monitoring afterwards for side effects - every piece of the puzzle has to be lined up for a new treatment to make it to a patient.    And, Anne, I'd like to come back to you because we've talked about this before, how one balances these messages of optimism and hope which are needed for bringing everybody together as a community to crack some of these very difficult challenges highlighted by treatments for rare and ultra-rare conditions and at the same time the need for realism, a balance conversation.  Anne: Yeah, that was one of our big learnings through the gene therapy trial and other trials we've had in the condition. As a rare disease charity, you do everything. You know, my title is CEO, but I tell people that's Chief Everything Officer because there's only a few of you and you do everything. So, you go and you lead the London Hope Walk and you also are a layperson on the Scientific Advisory Board and you also send out the emails about grants... And so, you could easily as a small rare disease charity conflate different communication messages because you're in a certain mode.  And so we have been from the early days in the mode of raising hope for people to say, “Look, we can make a difference as a patient community, we could raise funds, we might be able to move things forward, you've got the power to make a difference if you want to.” That's one set of hope.  And it's not dreamlike hope, we're linked to the reality of there are great breakthroughs.  So, you know, in the world of spinal muscular atrophy these clinical trials have led somewhere very quickly, so we're not selling false hope, we're talking about the difference we can make.    But then as soon as you flip into “There's a clinical trial being run” that's a completely different type of communication and you cannot conflate that message with the previous message.  And we always say to everybody, “We're your team, we're a family, we're a team, we all help each other.  When you are considering joining a clinical trial your team is the clinical trial team.    The other team does other things for you but the people you need to work with and ask hard questions of and listen hard to, that's your clinical trial team led by the principal investigator because then you're in that with them. And, you know, the reality of the fact that many, many clinical trials don't work as we wish they would be and the decision you make for your child, your baby, your little one, to join a clinical trial… because that's what it comes down to in our disease, has to be made with that team, not the team that's selling you a fundraising event. It's worth reminding rare disease patient organisations we're wearing different hats and the hope and the realism are different tracks you have to go down.    But at the same time as being realistic you also have to keep remembering that there is still grounds for hope, we are moving forward. And 21 years ago, when Tom was born the idea that you would be able to get all of the muscles in the body to switch back on – putting it in lay terms – seemed like a bit dream. Well, that is what has happened in the gene therapy clinical trial, we just have to now make it safer and understand more about what we're dealing with. So, the 2 things, the hope and the realism, do exist side by side.  Ana Lisa: I think that perfectly encapsulates a lot of the messages around rare disease therapies where there's such hope that novel treatments will really target directly the DNA or RNA to potentially correct the problem across many different rare conditions and therefore actually making treatments one day suddenly available to a much, much bigger population of people with rare conditions than we could've dreamt of 20 years ago or perhaps now, and at the same time this massive need to work cooperatively to all make this as fair, as equitable. Not everybody is going to have the opportunity to fundraise massively to be an expert about their condition, and the importance of sharing these learnings and also really, really listening to the patient community and really, as Carlo was saying, keeping track of side effects, having registries/databases to share these is going to be incredibly important.  [Music plays]  Ana Lisa:  Anne, can you tell us a little about your reflections on equity from the patient community perspective?  Anne: Well I mentioned serendipity early and one of the aspects of serendipity that played into our favour for setting up the Myotubular Trust was that by hook or by crook Wendy Hughes, who set up the charity with me, and I were both able to devote time at that period of our lives to setting up a charity. When my husband, Andrew, and I were told that Tom would more than likely die before his first birthday, one of the decisions we made as a family was that he would never not be with a parent, we would always have someone around, and that kind of meant someone had to give up a full-time job and that was me.  We thought, “If Tom has a few scarce months on the planet, we'll be with him.” And then when Tom lived to be nearly 4, as a family we got used to living on one salary and we were very lucky that we could pay the mortgage that way and run our family that way and eventually that meant I had the time to run the charity.    That doesn't happen that easily, that's a tall order, particularly when you have somebody in the family who has such high needs. And one of the things that I have often thought about is that in the rare disease space we could do with a different funding model for rare disease charities, we could, in an ideal world I have this nirvana that I imagine where there's a fund that you can apply to that is contributed to by the people who make profits out of finding rare disease cures - so the pharmaceutical companies and the biotechs - and there's a fund that they contribute to and that if you have a rare disease and you are willing to set up an organisation that supports families, that raises research funds, that provides a way of hearing the patient voice, then you could apply to that for running cost funds and then you'd be able to run this charity. And then you wouldn't have to rely on whether you live in an area where people will raise money for you or…  We were very lucky that we came across a few great benefactors who would give us money for running the charity, which is actually how we fund it.    All the research money we raise goes 100% into research, not a penny of it goes towards running costs because we have serendipitously found people who will be benefactors for the charity, but we're relying on a lot of good luck for that kind of model to work. And when you look at how much profit is made from developing rare disease treatments and cures – which is fine because that's what puts the passion and that gets people working on it – then why not have an advance fund to run rare disease charities? One of my nirvana dreams.  Ana Lisa: It's good to dream. Indeed, my hope is that there will be some amazing shining examples that lead the way that open doors, make things possible, prove that something can work and how and that then that will enable many other treatments for many additional rare conditions to be added in so that if you've learnt how this particular treatment modality works for this rare condition and there was funding behind it and everything else that's needed that then you can, the learning from that, I'm going to use the word ‘tweak', which sounds minor and could be very major but actually the concept that you can then tweak all those learnings and findings so that that same type of treatment modality could be adapted to treat somebody else with a different rare condition in a different location would be absolutely incredible and really powerful, given that if something like 85% of rare conditions affect less than one in a million people it's not going to be feasible to use the same strategies that have been used in the past for very common conditions.    One of the other big barriers is the cost of developing treatment for ultra-rare conditions.  Where it's a small number of patients that you have and therefore all the challenges that come with monitoring, checking for efficacy, monitoring safety and ultimately funding the challenges are much greater, however if some of these treatment modalities are also going to be used to treat common conditions it might be that actually there's a lot more cross-talk between the nano-rare, ultra-rare, rare and common conditions and that we can share a lot of that learning. I'd love to hear from each of you where you hope we will be for rare disease and rare therapies.  Carlo: Well my dream is that in 5 to 10 years' time an individual with a rare disease is identified in the clinic, perhaps even before symptoms have manifested, and at that exact time the day of the diagnosis becomes also a day of hope in a way where immediately the researcher, the centre, genetics lab, flags that there are the specific mutations, we know exactly which is the best genetic therapy to go after, antisense oligonucleotides as opposed to CRISPR editing, and a path forward, both at the preclinical and clinical level, to demonstrate and to cure these patients eventually is already laid out in front of the patient.  So, transforming the day of their diagnosis as a day of hope, this is my dream with the next ten years.  Ana Lisa: Thank you, that's a wonderful dream. Meriel, can I come to you?  Meriel: Yes, I think I just want to echo Carlo.  We've had great developments and progress with getting whole genome sequencing into the NHS for testing but what we really need is for it to be fast and efficient and getting those diagnoses established quickly. And we have had that set up now and we're really getting there in terms of speed, but then what we need is exactly what's the next step and actually structure like UPNAT that are developing these processes that we can then say to the patient, “And from there, now that we've established your diagnosis, this is what we have options to offer.”  Ana Lisa: Brilliant. And presumably that if the diagnosis isn't achieved now there is a hope that it will be achieved in the future as well. Anne...  Anne: Well, stepping one hundred per cent into the patient's shoes rather than the scientific side that we don't so much influence....  stepping in the patient's shoes, in 5 years' time I would absolutely love it if we were in a situation where all the parties that have come to the table looking at a therapy or in the earlier research genuinely want to bring the patient voice into the room. As Carlo talked about, there's even going to be more and more and more of these rare diseases, then those voices, those few people who have experience of it, they may be able to shed light on something. Maybe even sometimes don't even know it's a fact that they know but that were brought to the table as passionately as everything else is brought to the table.  [Music plays]  Ana Lisa: We'll wrap up there. Thank you so much to our guests, Anne Lennox, Carlo Rinaldi and Meriel McEntagart, for joining me today as we discuss the collaborative power of working together and look to the future of rare therapies that could have the potential to unlock treatments for many rare conditions. If you'd like to hear more like this, please subscribe to Behind the Genes on your favourite podcast app.  Thank you for listening.  I've been your host, Ana-Lisa Tavares. This podcast was edited by Bill Griffin at Ventoux Digital and produced by Naimah Callachand.  

We're back for Series 4 of The Road to Genome! Kicking things off with a cracking talk to The Rapping Consultant, Clinical Geneticist Professor Julian Barwell.Julian talks to us about his career and work in Cancer Genomics, Fragile X, and the work he has done to make genomics accessible and engaging for all.

In this episode of the Epigenetics Podcast, we talked with Natalia Gromak from the University of Oxford about her work on R-Loop biology in health and disease. In this interview Dr. Gromak delves into her significant research on transcription and RNA biology, particularly focusing on the molecular mechanisms involved at transcriptional pause sites. She describes her early work in understanding transcription termination and how her team investigated the role of specific RNA and DNA structures, including R-loops, that could influence polymerase progression. This exploration into R-loops—complexes formed by RNA and DNA interactions—was a key turning point in her research, as she and her colleagues identified their regulatory functions within the human genome. Discussion transitions into her findings regarding the implications of R-loops in diseases like Friedrich's ataxia and Fragile X syndrome. Dr. Gromak then elucidates how the pathological expansion of repeat sequences in these conditions interferes with normal gene expression, and how R-loops exacerbate transcriptional silencing. Throughout her reflection on these discoveries, she emphasizes the importance of studying R-loops beyond merely being a transcriptional byproduct, but as players in gene regulation and potential contributors to disease pathology. The episode also covers her innovative work in characterizing the R-loop interactome through various experimental techniques. She highlights the complexity of R-loop dynamics, including the discovery of protein factors that interact with R-loops and could influence their stability and regulatory functions. Furthermore, she discusses the exciting intersection of RNA modifications, such as m6A, which plays a role in R-loop regulation and presents new avenues for research, particularly pertaining to how disease-specific modifications might alter R-loop behavior.   References Cristini, A., Groh, M., Kristiansen, M. S., & Gromak, N. (2018). RNA/DNA Hybrid Interactome Identifies DXH9 as a Molecular Player in Transcriptional Termination and R-Loop-Associated DNA Damage. Cell reports, 23(6), 1891–1905. https://doi.org/10.1016/j.celrep.2018.04.025 Abakir, A., Giles, T. C., Cristini, A., Foster, J. M., Dai, N., Starczak, M., Rubio-Roldan, A., Li, M., Eleftheriou, M., Crutchley, J., Flatt, L., Young, L., Gaffney, D. J., Denning, C., Dalhus, B., Emes, R. D., Gackowski, D., Corrêa, I. R., Jr, Garcia-Perez, J. L., Klungland, A., … Ruzov, A. (2020). N6-methyladenosine regulates the stability of RNA:DNA hybrids in human cells. Nature genetics, 52(1), 48–55. https://doi.org/10.1038/s41588-019-0549-x   Related Episodes DNA Replication, Transcription and R-loops (Stephan Hamperl)   Contact Epigenetics Podcast on Mastodon Epigenetics Podcast on Bluesky Dr. Stefan Dillinger on LinkedIn Active Motif on LinkedIn Active Motif on Bluesky Email: podcast@activemotif.com

It's great to be back on the Podcast! I have many updates for you all that I can't wait for you to hear about. Tune in to this week's episode of Talk FX to hear more!

This is part of a special series of interviews within the SFN Dad To Dad Podcasts known as the SFN Mastermind Group Monday Podcasts.  Each Monday host David Hirsch interviews one of the SFN Mastermind Group dads on the impact the mastermind group has had on him and the wellbeing of his family.  This Monday's guest is Joe Lofino of Greenville, OH who is owner of Walnut Grove Cabinet Company and father of three young children, two of which who have been diagnosed with Fragile X.   Joe and his wife, Jen, have been married for 11 years and you are the proud parents of three: Josh (7), Joanna (6) and Junie (2).  The older two were diagnosed with Fragile X, which is the leading cause of intellectual disabilities like Autism.  Joe has been involved with the Special Fathers Network for about five years.  He was featured in episode #95 of the SFN Dad To Dad Podcast that aired in April 2020.  He has been part of the inaugural SFN Mastermind Group and has attended all the SFN Mastermind Group weekend retreats.  It's an uplifting conversation about perseverance, overcoming life's challenges and advocacy, all on this episode of the SFN Dad to Dad Podcast.Show Notes - Phone – (937) 232-9870Email – joe@walnutgrovecabinet.coLinkedIn - https://www.linkedin.com/in/joseph-lofino-2b644a73/SFN Dad To Dad Podcast #95 - https://21stcenturydads.org/dad-to-dad-95-joe-lofino/Favorite Mastermind Group Books – A View From The Top, by Aaron Walker -  https://tinyurl.com/mp5krvkdThe Ultimate Gift, by Jim Stovall - https://tinyurl.com/3pbm3rxxAbout the SFN Mastermind Group –WHAT- SFN Mastermind Group dads meet weekly by Zoom for 75 minutes. Each meeting:◦            starts with a round of wins from the past week,◦            includes a discussion of the current book (6 per year) being reviewed,◦            has two Dad-In-The-Middle sessions for dads to share a challenge, and◦            ends with a recap and look at the week ahead. WHO - SFN Mastermind Group Dads are those:◦            seeking meaningful friendships with like-minded dads,◦            willing to invest their time and make a financial commitment,◦            looking for a safe place to be open and authentic, and◦            who realize seeking advice is a strength, not a weakness.  WHY - SFN Mastermind Group Dads benefit by:◦            realizing they are NOT alone◦            having better relationships with their spouse,◦            developing improved understandings of their child(ren),◦            tapping into the experience and wisdom of others,◦            getting weekly encouragement from like-minded dads, and◦            creating a pathway to become the best version of themselves21st Century Dads Foundation is looking to provide 100 special needs fathers with the opportunity to be part of the class of 2024 Mastermind Group.   

Alzheimer's disease is a devastating neurodegenerative condition that slowly erodes memory, cognitive function, and the ability to perform even the simplest tasks. It's heartbreaking not only for those diagnosed but also for their loved ones as they watch a gradual loss of the person they knew. This is exactly how I felt in 2015 when I watched my grandmother be taken by this awful disease.The disease progresses as abnormal protein deposits (amyloid plaques and tau tangles) damage brain cells, leading to widespread brain shrinkage. Despite ongoing research, effective treatments remain limited, making Alzheimer's one of the most challenging and impactful diseases today. However, new research is uncovering fresh perspectives on its underlying causes. One emerging view is that beyond the traditional focus on protein deposits, epigenetic changes might play a crucial role in driving the disease.In this week's episode of the Everything Epigenetics podcast, Dr. Katz and I focus on his labs surprising journey that led them to believe that Alzheimer's disease is an epigenetic disease resulting from a loss of cell fate. Dr. Katz anticipates that his lab's work will advance drug discovery through epigenetics. If no other company exploits the work, his will, even though it currently exists only on paper. “Most of the epigenetic drugs are cancer therapies,” he notes. “More recently, drugs that target epigenetic enzymes have been pursued for a wide range of diseases, ranging from muscular dystrophies to Alzheimer's disease. Going forward, it will be exciting to see if epigenetic-based therapies prove to be effective against other diseases.”You'll learn about:Dr. Katz's interest in the development of the germline of the roundworm Caenorhabditis elegansHistone methylation and how this mechanism influences cell fate, as well as how this mechanism can go awryNeuroepigenetic mechanisms in diseaseNovel functions for epigenetics in the fields of Rett syndrome, Fragile X syndrome, and Alzheimer's disease researchHow the above discoveries underscore the vital importance of epigenetics in human neurological disordersThe first identified histone demethylase, lysine-specific demethylase 1 (LSD1)Why LSD1 is important What it means that LSD1 is required in the germ line to reprogram histone H3K4 methylationHow this pathway prevents epigenetic transcriptional memory from being inherited transgenerationallyHow this work can advance drug discovery in Alzheimer's disease CURE  (a program that Dr. Katz established with a nearby liberal arts college, Oglethorpe)How CURE promotes DEI in scienceChapters:00:00 Introduction to Epigenetics07:50 Hannah's Insights on Recent Research15:55 David's Perspective on Practical Applications25:18 The Impact of Lifestyle on EpigeSupport the Show.Where to Find Us:Instagram Twitter Facebook Follow us on:Apple Podcast Spotify YouTube Visit our website for more information and resources: everythingepigenetics.com Thank you for joining us at the Everything Epigenetics Podcast and remember you have control over your Epigenetics, so tune in next time to learn more about how to harness this knowledge for your benefit.

Today, we are talking about dysmorphology and genetic disorders in psychiatry. Dr. Marilyn Jones joins us to help us identify and understand these conditions. Dr. Jones tells us about the prevalence and diagnostic considerations for these conditions, such as 22q and Fragile X. Join us as we talk about the importance of early identification, genetic testing, and strategies for supporting individuals and families affected by these conditions.CME: Take the CME Post-Test for this EpisodePublished On: 08/12/2024Duration: 29 minutes, 29 secondsJoshua Feder, MD, and Mara Goverman, LCSW, have disclosed no relevant financial or other interests in any commercial companies pertaining to this educational activity.

During Fragile X Awareness Month there's lots in store, including an update on my family and I's journey with Fragile X!

It's Fragile X Awareness Month! As we kick off this important month, Talk Fragile X has an important announcement!

It's great to be back on Talk Fragile X Podcast! I share some updates to our Fragile X journey, what you can expect from the podcast this year, and more!

This episode features Stephanie M. Morris , MD, is Medical Director, Center for Autism Services, Science and Innovation (CASSI) At Kennedy Krieger Institute, Baltimore. She is a neurologist with special qualifications in child neurology, and is also an assistant professor in the Department of Neurology at the Johns Hopkins University School of Medicine. She works with kids with autism and I/DD and especially genetic conditions such as Fragile X syndrome and Neurofibromatosis Type 1 (NF1). In this webinar, Dr. Morris explains what seizures and epilepsy are, the different types, the high prevalence of seizures in autism, particularly in severe autism, various treatment approaches, and accessing care. Moderated by Jill Escher, president, NCSA For more information, please see NCSAutism.org

In this Healthed lecture, Dr Rashi Kalra explains the benefits of these tests - "essential carrier screening tests"- Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X, their application, who they are most relevant to, whether or not extra tests might be needed and how best to explain them to your patients.See omnystudio.com/listener for privacy information.

This is a discussion about the book, Routines and Orgies: The Life of Peter Cundill, Financial Genius, Philosopher, and Philanthropist by Christopher Risso-Gill. I discussed the book with Nelson, also known as The Canadian Dividend Investor. Nelson is a returning guest to the podcast and I thought he would be an ideal person to discuss this book with.Peter Cundill was a value investor who achieved a 15% rate of return from 1974 to 2010. This was a period of time when the US stock market returned 9.6% and international stocks returned 7.7%.Cundill employed a deep value style of investing and emphasized low price-to-book stocks and net-net's. He even had NET-NET on his license plate.He started his fund after reading about Warren Buffett and Benjamin Graham in the book Supermoney on a flight in 1974.He is an extremely unique character who lived life to the fullest. He was a world traveler who made it a point every year to visit the country with the worst-performing stock market so he could analyze it for opportunities. He was deeply devoted to physical fitness and routinely ran marathons well into his 50s. His philosophical thoughts about life in his journals are extremely thought provoking. He passed away in 2011 at the age of 72 due to a neurological disease called Fragile X.Links* The book, Routines and Orgies: https://www.amazon.com/Routines-Orgies-Financial-Philosopher-Philanthropist-ebook/dp/B00QB6Y080* A shorter book about Cundill, There's Always Something to Do, which focuses more on his investment career: https://www.amazon.com/Theres-Always-Something-Christopher-Risso-Gill-ebook/dp/B00CS5BR9S/* Nelson's substack: * The first episode with Nelson where we discussed his approach to investing: DisclaimerNothing on this substack is investment advice.The information in this article is for information and discussion purposes only. It does not constitute a recommendation to purchase or sell any financial instruments or other products.  Investment decisions should not be made with this article and one should take into account the investment objectives or financial situation of any particular person or institution.Investors should obtain advice based on their own individual circumstances from their own tax, financial, legal, and other advisers about the risks and merits of any transaction before making an investment decision, and only make such decisions on the basis of the investor's own objectives, experience, and resources.The information contained in this article is based on generally-available information and, although obtained from sources believed to be reliable, its accuracy and completeness cannot be assured, and such information may be incomplete or condensed.Investments in financial instruments or other products carry significant risk, including the possible total loss of the principal amount invested. This article and its author do not purport to identify all the risks or material considerations that may be associated with entering into any transaction. This author accepts no liability for any loss (whether direct, indirect, or consequential) that may arise from any use of the information contained in or derived from this website. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.securityanalysis.org/subscribe

Over 10 years in the making, there is now Medicare funding towards preconception genetic testing. Our discussion includes  What is preconception genetic screening? Who is a recessive genetic carrier? (tl:dr we all are) How could I be a carrier for a serious genetic condition and yet not be aware of it through my family history? Why has there not been a Medicare rebate before?  When will the new Medicare rebate apply from?  What will this mean in terms of choosing a genetic screening test?  What is achieved by the panel funded for CF/SMA and Fragile X?  What about the Ashkenazi Jewish screening panel and why is that separate? Why should I consider putting my rebate towards expanded panel screening options?  Results are relevant to a reproductive relationship - what does that mean?    Find us on Instagram - @knockeduppodcast Join our community! Follow Women's Health Melbourne on Facebook and Instagram (@womenshealthmelbourne), and follow Dr Raelia Lew on Instagram (@drraelialew). Have a question about women's health? Is there a specific topic you'd like us to cover? Email podcast@womenshealthmelbourne.com.au. We keep all requests anonymous. Women's Health Melbourne is a holistic care precinct, for more information about the work we do click here. Hosts: Dr Raelia Lew and Jordi MorrisonGuest: Monika Urbanski, Cosmetic Nurse  See omnystudio.com/listener for privacy information.

A protective pathway that pauses protein synthesis is muted in a mouse model of fragile X syndrome, according to a new study.

A protective pathway that pauses protein synthesis is muted in a mouse model of fragile X syndrome, according to a new study.

References Scientific Reports 2015.volume 5,Article number: 15292 Dev Cell. 2023 Apr 10;58(7):597-615.e10 --- Send in a voice message: https://podcasters.spotify.com/pod/show/dr-daniel-j-guerra/message Support this podcast: https://podcasters.spotify.com/pod/show/dr-daniel-j-guerra/support

On Saturday the McDonnell Planetarium at the St. Louis Science Center will be a different color.  As KMOX's Megan Lynch tells us, it's to raise awareness of Fragile X.  She interview two brothers, able to live independently, with support of a Missouri organization.   (Pictured are Jason and David Smith)

The approach prompts cultured cells to correct the genetic mutation in fragile X syndrome using their own DNA repair system, but it still needs to be tested further.

The approach prompts cultured cells to correct the genetic mutation in fragile X syndrome using their own DNA repair system, but it still needs to be tested further.

Fragile X Syndrome is the leading genetic cause of Autism. It's caused by a mutation of the FMR1 gene responsible for cognitive and behavioral development. Fragile X is often passed on unknowingly. The month of July is Fragile X Awareness Month! An opportunity to continue to spread more awareness of Fragile X, and celebrate the organizations like FRAXA Research Foundation and The National Fragile X Foundation and their efforts to support and find effective treatments for individuals living with Fragile X. It's also an important opportunity to spread awareness of Fragile X to those who may not have otherwise heard of it. In this week's episode, I talk about the importance of awareness month, as well as an EXCITING special announcement! Tune in to find out more!

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females. This month, we are featuring Fragile X syndrome. Fragile X syndrome is a heritable X-linked disorder caused by an abnormality in the FMR1 gene. This gene makes the protein, FMRP, which plays a critical role in the development of nerve cells and the production of other cellular proteins. An issue in this FMR1 gene causes an absence or severe deficiency of the FMRP protein, resulting in a range of developmental problems and distinctive physical features. It typically results from a specific mutation, or alteration of DNA, that causes a CGG base repeat to occur over 200 times in the damaged FMR1 gene. Molecular genetic testing can be used to diagnose this condition by identifying the 200 CGG repeats in the FMR1 gene. Women with a fragile X premutation, or 55 to 200 repeats of the FMR1 gene, have an increased risk of having a child with fragile X syndrome.  Additionally, female fragile X premutation carriers may experience menstrual and menopausal abnormalities, infertility, diminished ovarian reserve, and chronic hypoestrogenism. Such chronic hypoestrogenism has been associated with impaired bone health and an increased risk of cardiovascular disease. Furthermore, female carriers of a fragile X premutation have been found to have neuropsychiatric issues including neuropathy, increased anxiety and depression, and tremor/ataxia syndrome. Some studies have also associated thyroid abnormalities and hypertension to fragile X syndrome in women.  Today, we are joined by Rebecca Kronk, PhD, MSN, CRNP, ANEF, FAAN, CNE. Dr. Rebecca Kronk joined Duquesne University School of Nursing as an Assistant Professor in August 2010, earned tenure in 2016 and was promoted to Full Professor in 2022. She is a board certified pediatric nurse practitioner. Dr. Kronk earned her MSN from the University of Pittsburgh School of Nursing and a PhD in Applied Development Psychology at the University of Pittsburgh, School of Education. Dr. Kronk was a fellow in the Maternal and Child Health Training program providing leadership and education in neurodevelopmental disabilities and autism (LEND) at the University of Pittsburgh. Dr. Kronk has been in the field of pediatric nursing for over 40 years and she is experienced in helping children and families with a range of developmental issues. She has enjoyed combining clinical work with teaching and research. The theoretical framework of her research has been based on the International Classification of Functioning, Disability, and Health published by the World Health Organization. Dr. Kronk has conducted several research studies on the sleep patterns of children with Fragile X syndrome and developmental functioning of children in the FXS gray zone alleles. Her ongoing research has focused on undergraduate educational interventions to promote learning in genetics and caring for people with disabilities. Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org. National Fragile X Foundation Registry

    I love getting guest mixes from creative artists. I love hearing excellent segues as the music flows seamlessly across the set. And I love discovering new music. So I'm excited about this latest offering from Fragile X. https://soundcloud.com/fragilex https://fragilex.bandcamp.com/ https://www.mixcloud.com/lowlight/being-human-by-fragile-x/   There so much good stuff in this mix I could go on and on but I'll let John say a few things about it: "I've been inspired by my recent trip to Croatia and have made a water themed mix. I've called it "Aquadream". I wanted the mix to be able to act as a soundtrack to all kinda things. From casual swimming, deep sea diving, floating, boating or even just watching from the shoreline. It's pretty much all ambient material. It's got that hazy and submerged feel about it and is a wee bit disorientating at times but is ultimately a calm and hopefully refreshing mix!" Thanks, John, for this awesome collection of music!   T R A C K L I S T : ARTIST - TITLE / LABEL / YEAR 00:00    Sample of the World's Loneliest Whale, 52 Hertz 00:44    Rennie Foster - Devil's Water (Devil's Reprise) / Rebirth / 2009  04:48    Fragile X - The Descent / Gorecki Productions / 2015 07:11    Krill.minima - Submarine Poetry / Native State Records / 2007 12:23    Daar - Sea Wind / Silent Season / 2021 18:35    The Persuader - Pressure Relief / Stockholm LTD / 2015 21:51    Michael FK - Black Whale / Ambient / 2014 26:48    Newworldaquarium - Thousand Oaks / Ostgut Ton / 2014 29:56    Karen Vogt - Searching For Shoals (Karen Vogt remix) / Self Released / 2023 31:45    Kaitlyn Aurelia Smith - Wetlands / Western Vinyl / 2016 33:03    This Mortal Coil - Song To The Siren / 4AD / 1983 36:47    Inhmost - Waters Edge / Huinali Recordings / 2021 41:11    Tom Leclerc - Postcard From The Sea / Giraffe Tapes / 2022 43:50    Leafcutter John - Music Under The Water / Desire Path / 2015 48:04    Chromasy - Naoshima /Self Released / 2020 52:32    Copula - North Sea Dream / Traumgarten / 2020 54:48    Balsam - Water Conception / Neotantra / 2019 56:21    Julianna Barwick - One Half / Dead Oceans / 2012 59:13    Circular - Calm / Beatservice Records/ 1999 65:19    Asura - Ascension In Blue / Ultimae Records / 2014 72:30    Fragile X - Mvto More / Unreleased / 2023 78:48    Picnic - Drops in The Water (DJ Paradise remix) / Daisart / 2021 80:45    Saphileaum - Freshwater Body / Nyame Records / 2020 85:35    Yosi Horikawa - Fluid / Borrowed Scenery / 2019

Sarah Brown is a New York City based podcast producer and editor. She has worked on shows such as Minority Korner, Get on Up, #Matter and Fixing the Future. She also produces her own show called The Queerience, which is a podcast all about the LGBTQIA+ community. Sarah has a genetic condition called Fragile X syndrome that manifests in her as ADHD. On this episode, Sarah talks about:  What Fragile X syndrome is, and what it was like for her growing up with Fragile X and ADHD Her podcasting work, and the types of topics and guests she has on her podcast, The Queerience How she uses routines and other strategies to manage her life with ADHD How neurodiversity has helped her understand herself more, and find communities of people with similar experiences Follow Sarah and her podcast, The Queerience, on Instagram at @sbrownsays and @thequeeriencepodcast and on Twitter @thequeerience. Watch the video of this interview on YouTube. Read the episode transcript. Follow the Beyond 6 Seconds podcast in your favorite podcast player! Subscribe to the FREE Beyond 6 Seconds newsletter for early access to new episodes! Support this podcast at BuyMeACoffee.com/Beyond6Seconds and get a shout-out on a future episode! *Disclaimer: The views, guidance, opinions, and thoughts expressed in Beyond 6 Seconds episodes are solely mine and/or those of my guests, and do not necessarily represent those of my employer or other organizations.*

Dr. Anshu Batra, M.D., F.A.A.P is a Board Certified Developmental and Behavioral Pediatrician and a Fellow of the American Academy of Pediatrics. She completed Medical School from the University of Michigan, and Pediatric specialty training from the University of North Carolina at Chapel Hill. Her specialty-residency training included rotations in Developmental Pediatrics within the UNC-TEACCH program. She has been in Pediatric practice since 1994. As a Developmental Pediatrician in private practice, Dr Batra specializes in the evaluation and treatment of children with developmental delays, autism, learning disabilities, cerebral palsy, Fragile X syndrome and other genetic disorders, ADHD and other behavioral problems. Dr Batra's approach to patient care begins with education to demystify diagnoses for the parents and caretakers. She then tailors a comprehensive individual therapeutic program based on the strengths and challenges identified in each child, with the goal of helping that child reach their utmost potential. Dr. Hardwick is a father, husband, pastor, and author. He holds a Master of Divinity degree from Emory University as well as a Doctor of Ministry degree from Liberty University School of Divinity. He is a gradute of the Yale School of Divinity Clergy Scholar Program and a 2017 graduate of Georgia Forward's Young Gamechangers Program, which included 50 of the state of Georgia's top thinkers, innovators, and leaders under the age of 40. He is currently a PhD at Union Institute and University in Cincinatti, Ohio. Dr. Hardwick is a contributing writer to multiple blogs and magazines including The Mighty, Key Ministry, Christianity Today, Huffington Post, Autism Parenting Magazine, and Zoom Autism Magazine. He is the author of Epic Church (2017) as well as his best-selling book, I am Strong: The Life and Journey of an Autistic Pastor (2017). He is the lead pastor of Tri-Cities Church in Atlanta, GA. Most Recent Book Project: Disability and The Church: A Vision for Diversity and Inclusion (InterVarsity Press 2021) Dr Lorraine Jones a licensed speech-language pathologist with a Ph.D. in Education anda Board Certified Behavior Analyst-Doctoral with extensive experience in the utilization ABA principles in the context of parent learning programs for rapid acquisition of speech, language, social, and cognitive skills in young children with autism and other developmental disabilities. With expertise in communication disorders, special education, and applied behavior analysis, Dr Jones is motivated to use her knowledge and skills from each of these disciplines to develop protocols to strategically identify abilities as well as challenges, develop programs that are guided by the individual's learning profile, and to implement those programs in ways that will support the development of relationships as well as the acquisition of skills that will instill confidence and a love of learning. Dr.Anshu Batra MD https://www.oprah.com/own-podcasts/faces-of-autismhttps://www.oprah.com/world/living-with-autism/all Dr. Lamar Hardwick - Autism Pastor https://autismpastor.com/?page_id=1808 https://www.youtube.com/watch?v=QGc86DRETUs Interactive Metronome Inc. Dr. Lorraine Jones PhD https://www.linkedin.com/in/lorrainne-jones-phd-58858365/

Listen to our interview with these two amazing parents. Elizabeth and Jay both Fragile X parents of their son Zach whom has Fragile X. Elizabeth is the author of Fragile X Fragile Hope . Find her book here @ https://www.amazon.com/Fragile-Hope-Finding-Parenting-Special/dp/1932096167/ref=sr_1_1?crid=36K6HTOCW6O8&keywords=fragile+x+fragile+hope&qid=1679947242&sprefix=frgaile+x+fragile+hope%2Caps%2C142&sr=8-1 Check out Elizabeth great website @ https://elizabethgriffin.com/ https://elizabethgriffin.com/

Kirsten Fowler is the author of Family, Faith, and Fragile X: The Raw Story of a Mother With Three Special Needs Children. She resides in Utah with her husband and four children, three of which have Fragile X Syndrome. She loves music, art, theater, and occasional adventures. Amidst her challenges, she tries to laugh rather than cry, has a good sense of humor, and shares her experiences to help others find hope and joy. https://kirstenfowler.com This is my website where listeners can find a direct link to my book on Amazon as well as a link to a list of hundreds of helpful items to purchase with link where to buy them. There are also more stories from my life to read there. Family, Faith, and Fragile X: The Raw Story of a Mother with Three Special Needs Children. (May 2022) Amazon Link: https://amzn.to/3RybkBG The Autistic Me: Blog: https://www.tameri.com/autisticme/ Podcast: https://autisticme.libsyn.com/ Facebook: https://www.facebook.com/autisticme/ Twitter: https://twitter.com/autisticme YouTube: https://www.youtube.com/c/CSWyatt LinkedIn: https://www.linkedin.com/company/autisticme  

Everyone is offered a genetic screen called a carrier screening during pregnancy. The carrier screen detects if you are a carrier for 4 to 274 diseases, depending on the type of screen ordered.  Well, one of those screens detects if you have Fragile X premutation.  Fragile X syndrome is caused by CGG repeats on the X chromosome and causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms owing to the fact that the syndrome is inherited in an x-linked fashion. With the premutation, CGG repeats are present, but not enough for the baby to have the syndrome. Check out this episode to learn more about how this is inherited and how it can affect future generations. Download and listen now!See omnystudio.com/listener for privacy information.

Everyone is offered a genetic screen called a carrier screening during pregnancy. The carrier screen detects if you are a carrier for 4 to 274 diseases, depending on the type of screen ordered.  Well, one of those screens detects if you have Fragile X premutation.  Fragile X syndrome is caused by CGG repeats on the X chromosome and causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms owing to the fact that the syndrome is inherited in an x-linked fashion. With the premutation, CGG repeats are present, but not enough for the baby to have the syndrome. Check out this episode to learn more about how this is inherited and how it can affect future generations. Download and listen now!See omnystudio.com/listener for privacy information.

In this episode, I have a vulnerable discussion about Autism and Fragile "X" Syndrome. You'll understand more about Fragile "X" and Autism and how closely related they can be. Plus she shares her book "Family, Faith, and Fragile X: The Raw Story of a Mother With Three Special Needs Children", and her experiences in writing it. Get the Book Here:https://www.amazon.com/Family-Faith-Fragile-Special-Children/dp/B0B1C1PKGF/ref=tmm_pap_swatch_0?_encoding=UTF8&qid=&sr=Check out her website here:https://kirstenfowler.com/Support the show

Episode 130: Epigenetics in childhood obesitySaakshi and Dr. Arreaza discuss some principles of epigenetics implicated in the development of obesity in children. Written by Saakshi Dulani, MS3, Western University College of Osteopathic Medicine of the Pacific. Edited by Hector Arreaza, MD.You are listening to Rio Bravo qWeek Podcast, your weekly dose of knowledge brought to you by the Rio Bravo Family Medicine Residency Program from Bakersfield, California, a UCLA-affiliated program sponsored by Clinica Sierra Vista, Let Us Be Your Healthcare Home. This podcast was created for educational purposes only. Visit your primary care provider for additional medical advice.This topic is constantly expanding, and I'm excited to talk about it. It is a fact that epigenetic changes play a role in the development of certain diseases such as Prader-Willi syndrome, Fragile X syndrome, and various cancers. It has been demonstrated that certain foods can alter gene expression in animals, for example. What is epigenetics?Epigenetics is the regulation of gene expression without a change in the base sequence of DNA. Epigenetics means “on top of” the genes. Genes can be turned “on” or “off” as a response to external influences. Obesity and Epigenetics.The link between genetics and obesity is complex, but it is known that epigenetics plays a significant role in childhood obesity. Surprisingly, exposure to environmental factors starts in the uterus. Fetuses are exposed to intrauterine signals that increase their potential to develop obesity. Factors such as in-utero hyperglycemia, gestational diabetes mellitus, and early childhood diet and lifestyle practices can affect the development of the gut microbiome, modify gene expression through DNA methylation, and increase the risk of childhood obesity. These gene expression changes can be passed on to future generations. DNA methylation is the addition of a methyl group to part of the DNA molecule. That methyl group acts as a “chemical cap,” which prevents gene expression. Another example of epigenetics is histone modification. Histones are proteins that are used by DNA as spools to wrap around pieces of information that are “not needed”. The reason why a scalp cell and a neuron are different is that the expression of certain genes is suppressed while other genes are expressed.Factors that influence obesity.Some factors that increase the risk of childhood obesity through epigenetic changes include neonatal intestinal microbiome, C-section delivery, maternal insulin resistance, exposure to antibiotics and other environmental toxins, early introduction of complementary foods, parental diets high in carbohydrates and low in fruits and vegetables, and poor sleep. There are many other factors, but we will discuss only a few of them.Microbiome:The microbiome is a whole new world that is being explored by many investigators. The gut microbiome refers to the diverse community of organisms, including bacteria, fungi, and viruses, that reside in the human intestine. The neonatal intestinal microbiome is established during the first two years of life and may be influenced by factors such as the method of delivery, maternal obesity, and the maternal gut microbiome. Some bacteria worth mentioning are Bacteroides, Clostridium, and Staphylococcus. These gut bacteria are higher in pregnant women who have obesity, and they also have a low count of Bifidobacterium. Infants born to obese mothers have higher levels of bacteria associated with increased energy harvest compared to infants born to normal-weight mothers. The gut microbiome of infants delivered by C-section is different than infants delivered vaginally.Link to antibiotics:Early exposure to antibiotics is associated with the development of resistance in microorganisms. The intestinal microbiota exposed to antibiotics also shows reduced diversity. Antibiotics can decrease the number of mitochondria and impair their function, which is important in maintaining energy metabolism. Evidence suggests that some antibiotics can cause mutations in the mitochondrial genome, and they have a direct effect on the microbiome and influence metabolism. There is a strong association between early-life antibiotic exposure and childhood adiposity, with a strong dose-response relationship. A stronger association has been seen with exposure to broad-spectrum antibiotics and macrolides. Maternal insulin resistance (IR):Insulin resistance means that the mother needs levels of insulin that are higher than normal to stay normoglycemic. It means the insulin receptors are “exhausted” and do not respond to normal levels of insulin. Insulin does NOT cross the blood-placenta barrier, but glucose and other nutrients do. This causes the fetus to have an abundance of glucose that stimulates the secretion of high levels of insulin by the fetal pancreas to stay normoglycemic. The combination of insulin + glucose is the perfect combination for anabolism, adipocyte hyperplasia, and fetal growth. That explains why mothers with insulin resistance deliver larger babies (macrosomia). Maternal insulin resistance is a predictor of infant weight gain and body fat in the first year of life. This is not influenced by the mother's BMI before pregnancy. Maternal insulin resistance causes alterations in gene regulation for lipids, amino acids, and inflammation, leading to long-term health implications for both the mother and future pregnancies.C-section and obesity:C-section delivery is a saving procedure for many obstetrical emergencies. C-sections have improved the survival of larger infants and their mothers. C-sections are more frequent among populations with obesity and sedentary lifestyles. This method of delivery is also strongly associated with childhood obesity. Among many other reasons, whenever a vaginal delivery is feasible, a vaginal delivery is preferred over a c-section.   In summary, we discussed 4 factors that may influence childhood obesity: the newborn microbiome, exposure to antibiotics, maternal insulin resistance, and C-sections. There are many other factors that we did not talk about, but the more we know about genetics, epigenetics, and metabolism, the closer we get to a better understanding of obesity._____________________Conclusion: Now we conclude our episode number 130, “Epigenetics in childhood obesity.” Saakshi discussed with Dr. Arreaza that the in-utero environment can alter gene expression and increase the risk of obesity in children. Some factors, such as maternal insulin resistance and changes in gut microbiome, can be the cause of obesity in some children. This week we thank Hector Arreaza and Saakshi Dulani. Audio editing by Adrianne Silva.Even without trying, every night you go to bed a little wiser. Thanks for listening to Rio Bravo qWeek Podcast. We want to hear from you, send us an email at RioBravoqWeek@clinicasierravista.org, or visit our website riobravofmrp.org/qweek. See you next week! _____________________Sources:Burdge GC, Hoile SP, Uller T, Thomas NA, Gluckman PD, Hanson MA, Lillycrop KA. Progressive, transgenerational changes in offspring phenotype and epigenotype following nutritional transition. PLoS One. 2011;6(11):e28282. doi: 10.1371/journal.pone.0028282. Epub 2011 Nov 30. PMID: 22140567; PMCID: PMC3227644. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3227644/Rachael Rettner, Epigenetics: Definition & Examples, Live Science, published on June 24, 2013, available at: https://www.livescience.com/37703-epigenetics.htmlMulligan CM, Friedman JE. Maternal modifiers of the infant gut microbiota: metabolic consequences. J Endocrinol. 2017;235: R1-R12.Aghaali, M. and S. S. Hashemi-Nazari (2019). “Association between early antibiotic exposure and risk of childhood weight gain and obesity: a systematic review and meta-analysis.” J Pediatr Endocrinol Metab 32(5): 439-445.Yuan C, Gaskins AJ, Blaine AI, et al. Association between cesarean birth and risk of obesity in offspring in childhood, adolescence, and early adulthood. JAMA Pediatr. 2016;170(11):e162385. doi: 10.1001/jamapediatrics.2016.2385.Royalty-free music used for this episode: “Gushito - Burn Flow." Downloaded on October 13, 2022, from https://www.videvo.net/

On this episode of Taling Away The Taboo, Meria Albert joins Aimee Baron, MD to talk about... -Her fertility journey as a Rebbetzin in the YU (Yeshiva University) world -Sharing responsibilities with her husband -Living in the public eye -The genetic pre-mutation of Fragile X, secondary infertility due to ovarian insufficiency and the eventual birth of two of her children using an Egg Donor Connect with us: -Check out our website  -Follow us on Instagram and send us a message  -Check out our Facebook page  -Watch our videos on YouTube  -Follow us on TikTok  -Email us at info@iwassupposedtohaveababy.org

Fragile X syndrome is a rare, genetic, developmental disorder that is the leading known cause of both intellectual disability and autism spectrum disorder. People with the condition can have a range of behavioral symptoms, such as social avoidance and irritability. Zynerba is developing its experimental therapy Zygel, a topical cannabidiol gel that is delivered into the bloodstream through the skin to treat the behavioral symptoms of Fragile X. We spoke to co-director of the molecular diagnostics section of the Genetic Laboratory at Rush Medical College Elizabeth Berry-Kravis and Zynerba Chairman and CEO Armando Anido, about Fragile X, the company's experimental therapy Zygel, and why the topical cannibidiol gel may hold promise for treating the behavioral symptoms of the condition.

Kirsten FowlerWebsite:https://kirstenfowler.com/Facebook:https://www.facebook.com/KirstenAuthorFowler Instagram:https://www.instagram.com/kirsten_fowler1/ My social media links:Podcast:https://podcast.app/day-in-day-out-p832991Instagram:https://www.instagram.com/muui23LinkedIn page:https://www.linkedin.com/company/day-in-day-out-podcast/?viewAsMember=trueYouTube:https://bit.ly/2UVszCm

If you caught the Friends reference in the title, big thumbs up to you! If not, it's okay, you're still welcome here! It's crazy to think this is our last episode of 2022, but we are here! I will be taking a break from the podcast world for the remainder of the year to spend time with family. I will also be taking this time to continue making plans for 2023. I'm excited for another year of growth, advocacy, and connecting with all of you in the Fragile X community. Be sure to tune into this week's episode. There's so much to talk about! Otherwise, see you next year!

Denise talks to Carrie Weiner, co-founder and CFO of The Little Black Box, who is most proud of her ability to strike a balance between running a business and being a dedicated single mom. She says she's a good planner and practicing stellar time management skills allows her to put her kids first while providing for the family.  Like many entrepreneurs, Weiner saw a need, and during the pandemic in 2020, along with her friend now business partner Michelle Scerbo, created a company that redefines the gift giving industry by making giving back a part of the business model. Her desire to support communities and women-owned vendors stems from her value of relationships and support, something she lacked at a pivotal moment in her life.  It was the toughest situation she's ever had to face as a single mom. At age three, Weiner's son was diagnosed with a rare genetic disorder, Fragile X. Both of her parents had recently passed away, and she found herself without the emotional support of a loving community close by. So, she set out to make one.  Learning to trust her gut—the “visceral” feeling inside—has paid off. The Little Black Box is not only a luxury gifting service that's totally customizable, it's also an economic engine for the nonprofit community, with a portion of every purchase donated to charities for women like Alternatives For Girls, benefiting homeless and at-risk girls in Detroit. The range of gifts covers everyone from classroom teachers to corporate executives for any occasion at just about any price point.  Like her company's products, Weiner's advice to would-be entrepreneurs is thoughtful and timeless.  Hire an attorney  Write a business plan Clearly define roles Manage expectations  What would she say to her younger self? “You can do it!” Ask for help and help others.   Stay tuned for her two favorite Detroit moments, one with her dad and one with her mom, both of which may have foreshadowed her future.  Web | www.thelittleblackbox.com  IG | the_littleblackbox    Facebook| Little Black Box, LLC    ***  Carrie Weiner is co-founder and CFO of The Little Black Box®, a bespoke gift-giving company offering luxury, customizable, curated and affordable gifts for anyone desiring to give a meaningful gift. The company uplifts women and small business by sourcing unique products and donating a portion of each purchase to charity. To further the philanthropic arm of The Little Black Box®, Weiner and her business partner created Citizen Society, their own product line and activism hub. Weiner is a graduate of the New York School of Interior Design and previously used her creative talents in the design of homes and restaurants and her own women's clothing store. She is the proud mom of two amazing children.  Denise Ilitch, an owner of Ilitch Family Companies and President of Ilitch Enterprises, has been a part of Detroit's business and philanthropic community for over 40 years.  As a mother, lawyer, entrepreneur, devoted community servant and tireless advocate for women and children, she learned early, from her father, that everyone is worthy of contributing to the world.  Her passion for affordable, accessible, quality education stems from her own experience as a first-generation student, earning a bachelor's degree from the University of Michigan, where she currently serves on the Board of Regents, and a law degree from the University of Detroit Law School.  FOLLOW DENISE @thedeniseilitchshow  TO LEARN MORE about all our inspiring podcasts visit https://www.lifestough.com/.  

An interview with Hilary Rosselot, the Executive Director of the National Fragile X Foundation.  Links to the foundation are in the comment section! ★ Support this podcast on Patreon ★

Fragile X Syndrome is the most common inherited form of intellectual disability, and the most common single gene cause of Autism Spectrum Disorder. It is also responsible for some cases of premature ovarian insufficiency. Do you recall the difference between a Fragile X “pre-mutation” versus the full mutation? Should we do universal screening for this as part of expanded maternal carrier testing, or should this be a targeted screening approach? Although we covered maternal carrier screening on November 4, 2022, this episode will go into much more detail, focusing specifically on Fragile X Syndrome and who should be screened for this. (For Emma…Great question! Thank you for reaching out to us).

Ayoka from Atlanta, Georgia in the US is desperate to have a baby and her family is helping to pay for her IVF treatment. But Ayoka knows that she carries a serious genetic condition, Fragile X, which she does not want to pass on to her children. She tells Claudia Hammond what it means to know that she would be prevented from having an abortion, even if pre-natal testing revealed her unborn baby had the inherited condition. That is because the state of Georgia, up until yesterday when the ban was successfully challenged in court, has restricted termination after six weeks of pregnancy. This restriction is too early for genetic testing to have taken place. So what will she do if the ban is reinstated? Lebanon has experienced profound economic, financial and civil shocks in recent years as well as absorbing almost a million and a half refugees, a third of its total population. The strains on its infrastructure are acute and for the first time in almost thirty years, there have been outbreaks of cholera, claiming lives of young and old alike, just as there is a global shortage of cholera vaccines. Lebanon's Minister of Public Health, Dr Firass Abiad, tells Claudia about the steps that are being taken to treat, vaccinate and restore vital infrastructure to stop the disease spreading. And the BBC's Science and Health correspondent, James Gallagher, brings the latest medical findings, including how armadillos showed that the leprosy bacterium can regenerate organs, how children's different births cause different microbiomes and different reactions to vaccinations and which smells give you a better night's sleep. Presenter: Claudia Hammond Producer: Fiona Hill (Photo: A pregnant woman lying down. Credit: Brooke Fasani Auchincloss/Getty Images)

Something that doesn't seem to be talked about enough is the journey of finding the right therapists for our special needs children! For so many families, this can be a very challenging and emotional process. Ashley shares her journey of finding the right therapists for her full-mutation Fragile X son, Sebastian. She shares her emotional journey, as well as encouragement of important characteristics to look for in a therapist! She also shares a powerful reminder of why momma's know their kiddo's best!

Based on this measure, over three million children (4.3% of the under-18 population) in the United States had a disability in 2019, up 0.4 percentage points since 2008, according to the US Census Bureau. For Kirsten Fowler: “I am a mother of four children. Three of them have special needs from a genetic factor called Fragile X Syndrome. It is the most known cause of inherited autism. This syndrome also affects carriers like me. Through chronic illness and mental health issues I have been able to find joy and fulfillment raising my children. I am also blessed to have a loving relationship with my husband that sticks with me through it all. I have an educational background in family life and enjoy talking about family, Christianity, Fragile X Syndrome, and special needs in general. I want to share my book with others so that they can find hope in difficult circumstances and help them not feel alone in their journey. In my book and in general, I speak on various topics from special education, therapy and ABA for children, special vacations, mental health, and more.” She joined me this week to tell me more. Get the Book: https://www.amazon.com/Family-Faith-Fragile-Special-Children-ebook/dp/B09ZF19C9K For more information: https://kirstenfowler.com/

September 15th is International Myotonic Dystrophy Awareness Day. To learn more about helping educate and advocate for Myotonic Dystrophy visit the Muscular Dystrophy Association or Myotonic Dystrophy Foundation. The purpose of this Awareness Day is to garner the attention of the wider general public, policy makers, regulators, biopharmaceutical representatives, researchers, health care professionals, and anyone with an interest in changing the future of myotonic dystrophy. Raising awareness of myotonic dystrophy will help improve service provision, basic research, drug development, and policymaking related to the disease. Increased funding for myotonic dystrophy research will improve health outcomes, reduce disability, and increase life expectancy for individuals living with the disease, and holds great promise for helping individuals with diseases with similar genetic bases, such as Fragile X syndrome and Huntington's disease. To learn about the different types of myotonic dystrophy, visit this NORD webpage. In addition to this podcast host/producer who lives with Myotonic Dystrophy Type 1, the following podcast episodes have featured guests living with DM1, DM2, or caregivers in a DM family: Food = Medicine Passion and Motivation to Move through the Hard Stuff Working with Wounded Warriors Music Gives Me a Peace Bubble Salute to Caregivers Stories of Healing with Essential Oils

About a year ago, I had the pleasure of meeting Andrea when she reached out to me on social media one day. We ended up connecting on a phone call and talked about life, family, faith, and of course Fragile X for over an hour! Since then, we talked about continuing our conversations on a future podcast episode. However, life got busy for both of us, and Andrea and her husband welcomed a precious baby girl to their now family of 5. The timing of us getting together to do this episode could not have been better! I'm so grateful for Andrea and her amazing perspective she shares as a mom of three, with one whom has full-mutation Fragile X Syndrome. You don't want to miss this episode!

Maintaining hope in our lives is a daily journey. Whether you're a parent of someone with Fragile X, self-advocate or full-mutation carrier. Often times the amount of hope we have is dependent on how our day is going, how our children are behaving, or discouragement in general. Not to mention our hope in having better treatments for our children affected by Fragile X, or even a cure! On this week's episode of Talk FX, I share from a raw and personal perspective of my own journey of maintaining hope and how it's been going lately. I also share what I've learned from other Fragile X families and experts that has really carried me through the difficult times. Tune in and share!

The population of students with special needs is growing and accounts for close to 15 percent of the total student population. Special needs are medical, mental, or psychological disabilities that require special care. Unfortunately, people with special needs can be overlooked in the church because we don't know how to serve them well. In today's Candid Conversation, Bruce and Rachel Lowe join Jonathan for a frank discussion on how to serve special needs families in the local church. The Lowes share their own personal story of the joys and struggles of raising their children with Fragile X syndrome and how they express the loving character of God in unique and challenging ways. Together, they discuss how we can be more intentional about including special needs children and adults in the church by recognizing their God-given spiritual gifts.In addition to being a fantastic scholar and published author, Bruce Lowe is a beloved seminary professor, friend, and mentor of Jonathan's.You don't want to miss this sweet episode as Jonathan and the Lowes peel back layers of the challenging yet rewarding work of engaging with our brothers and sisters with special needs.eeds. To ask Jonathan a question or connect with the Candid community, visit https://LTW.org/CandidFacebook: https://www.facebook.com/candidpodInstagram: https://www.instagram.com/candidpodTwitter: https://twitter.com/thecandidpod