Podcasts about genetic disease

In this episode of Tiny Show and Tell Us, we hear from a listener who has Marfan syndrome and dive into the complexities of the disease. Then we talk about pathogens that eat — or infiltrate! — plant DNA.We need your stories — they're what make these bonus episodes possible! Write in to tinymatters@acs.org *or fill out this form* with your favorite science fact or science news story for a chance to be featured.A transcript and references for this episode can be found at acs.org/tinymatters.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 of “Moving Medicine Forward” – The Podcast, Jill Black, Validation IT Principal Auditor at CTI, shares the journey of her daughter getting diagnosed with Rett syndrome. This rare genetic neurological and developmental disorder affects the way that the brain develops and is most common in females.

Today, we're talking to a very special guest: Todd Warner. Todd has been a long-time Dinky community member — but when we met him at our Portland Happy Hour in October, we knew we had to sit down to talk with him more about his life. I think it's safe to call Todd an activity junkie: as a typical Oregonian, he was an avid hiker, biker, skier, boat enthusiast, and beyond. Unfortunately, in the early 2010s, Todd started to notice his body taking on limitations — and ultimately was diagnosed with an ultra-rare and likely fatal disease known as Valosin Containing Protein disease, often referred to as VCP. So, today we'll be talking with Todd about his life, his experience living with VCP, and if he has any regrets about not having kids.Follow Todd on Instagram and donate to find a cure for VCP.The Dinky Patreon is officially live! Join now to support the show + gain access to bonus episodes, the Dinky Discord channel, our virtual book club and more! Buy your own Dinky x Cheese Grotto pairing box! Use DINKYPOD10 at checkout. Wanna connect with us on social media? You can find us on Instagram and TikTok at @dinkypod.Follow us on YouTube. If you have a question or comment, email us at dinky@dinkypod.comBecome a supporter of this podcast: https://www.spreaker.com/podcast/dinky--5953015/support.

Casey Mulligan Walsh only found out she had a genetic disease after the death of both her parents and her brother. She now advocates for early cholesterol testing in children. The earlier it can be detected, the earlier it can be treated, and the more lives can be saved. Our experts discuss the disease and treatment options. Learn More: https://radiohealthjournal.org/one-womans-fight-to-expose-the-genetic-disease-that-made-her-an-orphan Learn more about your ad choices. Visit megaphone.fm/adchoices

Today, I am blessed to have Dr. Thomas Seyfried here with me. Thomas N. Seyfried received his Ph.D. in Genetics and Biochemistry from the University of Illinois, Urbana, in 1976. He did his undergraduate work at the University of New England, where he recently received the distinguished Alumni Achievement Award. He also holds a Master's degree in Genetics from Illinois State University. Thomas Seyfried served with distinction in the United States Army's First Cavalry Division during the Vietnam War and received numerous medals and commendations. He was a Postdoctoral Fellow in the Department of Neurology at the Yale University School of Medicine and then served on the faculty as an Assistant Professor in Neurology. Dr. Seyfried argues that cancer is a metabolic disease, not a genetic one, and suggests that lifestyle factors play a role in its development. He highlights that if you wanted to get cancer, you would adopt a sedentary lifestyle, consume highly processed foods with long shelf lives, avoid fresh food, experience high levels of emotional stress, and deprive yourself of sleep. He notes that many people engage in these behaviors unknowingly, leading to increased rates of cancer, diabetes, obesity, and other chronic diseases. Seyfried's point is that to prevent cancer, individuals should focus on maintaining metabolic health through exercise, proper diet, stress management, and quality sleep. Dr. Seyfried highlights that the current medical understanding of cancer is rooted in the idea that it is a genetic disease, a concept taught in medical schools and upheld by oncologists. These professionals are trained to use traditional treatments like chemotherapy and radiation, focusing on managing toxicity rather than addressing the root cause. Seyfried argues that cancer is a metabolic disease driven by glucose and glutamine, but this crucial information is missing from training. He emphasizes the need for metabolic therapy, which targets the fuels cancer cells depend on while keeping healthy cells thriving, notably through ketosis. He expresses frustration at the medical community's resistance to acknowledging this approach despite mounting evidence that metabolic interventions could starve cancer cells and slow tumor growth. Tune in as Dr. Seyfried explains that while animals are hardwired to eat for survival, humans, with conscious awareness, can override this instinct, which can lead to disorders like anorexia. He highlights that modern diets, full of processed carbohydrates and fats, are far removed from what our ancestors ate, causing health issues like obesity, type 2 diabetes, and cancer. Additionally, he critiques the financial burden of cancer treatments, calling the system immoral, especially for the economically disadvantaged. Resources from this episode:  Website: https://tomseyfried.com/ Cancer as a Metabolic Disease: https://www.amazon.com/Cancer-Metabolic-Disease-Management-Prevention/dp/0470584920/benazadi-20 Donate: https://www.bc.edu/bc-web/offices/alumni/giving.html

Erik Torenberg is joined by Noor Siddiqui, founder and CEO of Orchid, to explore groundbreaking advancements in reproductive technology, especially the world's first whole genome embryo screening. They dive into genome sequencing, IVF, and the ethical implications of these technologies, highlighting their potential to significantly reduce the incidence of major diseases. Noor shares her journey of bringing Orchid's innovative solutions from research to market, along with the importance of polygenic scores and the evolving societal views on reproductive tech.  —

'THE RAW DOG FOOD TRUTH' PODCAST YOUR PET'S HEALTH IS OUR BUSINESS FRIENDS DON'T LET FRIENDS FEED KIBBLE www.RawDogFoodandCo.com  Best complete pure raw dog food for healthy dogs and cats at lowest prices. Relieve itching, allergies, digestive and skin issues. Ship Raw Dog Food Direct to Your Door Friends Don't Let Friends Feed Kibble Shop Now

Host: Denise M. Dupras, M.D., Ph.D. Guest: Margot A. Cousin, Ph.D. This episode of Genes & Your Health provides a comprehensive look at how ASO (Antisense Oligonucleotide) therapy is paving the way for personalized medicine and offering new hope for patients with previously untreatable conditions. Margot A. Cousin, Ph.D., an Assistant Professor of Medical Genetics in the Department of Molecular Medicine and Director of the N-or-1 Therapeutics Program in the Center for Individualized Medicine, walks us through an overview of what antisense oligonucleotides are and how they work.  We then discuss clinical applications, success stories, and potential new applications to transform treatment approaches.  Connect with the Mayo Clinic's School of Continuous Professional Development online at https://ce.mayo.edu/ or on Twitter @MayoMedEd. 

A recent scientific study has uncovered a distinct genetic form of Alzheimer's, sparking discussions and raising questions about its implications for individuals carrying this gene variant.I break down the significance of this discovery in the context of Alzheimer's research and its potential impact on future treatments and prevention strategies.Accelerated Health TV & Radio Show is broadcast live Tuesdays at 4PM ET and Music on W4HC Radio – Health Café Live (www.w4cs.com) part of Talk 4 Radio (www.talk4radio.com) on the Talk 4 Media Network (www.talk4media.com).Accelerated Health TV & Radio Show Show is viewed on Talk 4 TV (www.talk4tv.com). Accelerated Health TV & Radio Show Podcast is also available on Talk 4 Media (www.talk4media.com), Talk 4 Podcasting (www.talk4podcasting.com), iHeartRadio, Amazon Music, Pandora, Spotify, Audible, and over 100 other podcast outlets.

Salome Juethner, Senior Medical Director, Head of Rare Genetics, and Interim Head of Rare GI at Takeda, discusses HAE, hereditary angioedema, a rare genetic disorder that causes painful and unpredictable swelling attacks that can be life-threatening. Salome emphasizes the need to educate physicians to consider HAE as a potential diagnosis in children as young as two years old and underrepresented racial and ethnic groups. To treat HAE, Takeda offers Takhzyro, a medication that can be used on-demand and as a preventative therapy, administered at home through a subcutaneous injection.  Salome explains, "Hereditary angioedema, or HAE, is a rare genetic disorder with a prevalence of one in 50,000. It can cause very painful, unpredictable swelling attacks that can occur in the throat, abdomen, hands, feet, and face. And as you can imagine, a throat attack could be potentially life-threatening. There are different triggers for these attacks. Some can just be stress and that could be positive stress like a wedding or going to prom or an illness and others. It can be quite limiting when you have to live thinking if I do something, is that going to trigger an attack? The symptoms can change over time, and HAE may not necessarily look the same for each person. Typically, people with HAE are missing an important protein in their blood called a C1 inhibitor. Either they're missing it or have very low levels, and it just may not work the way it should." "For people who have never heard of HAE, things get a lot more difficult because they rely on their physician, who may or may not be aware of this very rare disease and consider it part of the differential diagnosis. So it is not uncommon to hear patients talk about going for years before they ever got their diagnosis and that they were experiencing symptoms during that time, going to the emergency room, and maybe even being misdiagnosed with another condition until they finally saw someone who thought, oh, you know what? We should screen you for HAE." "Screening is really just a blood test. So, you would screen for a C4 level, which would be low or normal. If you're thinking about whether this could be HAE, then you would go ahead and check a C1 inhibitor level and a functional C1 level, and then those would be low as well. It's really about educating people, though, to consider it as part of the differential diagnosis."  #Takeda #HAE #HereditaryAngioedema #RareDisease takeda.com Download the transcript here

Salome Juethner, Senior Medical Director, Head of Rare Genetics, and Interim Head of Rare GI at Takeda, discusses HAE, hereditary angioedema, a rare genetic disorder that causes painful and unpredictable swelling attacks that can be life-threatening. Salome emphasizes the need to educate physicians to consider HAE as a potential diagnosis in children as young as two years old and underrepresented racial and ethnic groups. To treat HAE, Takeda offers Takhzyro, a medication that can be used on-demand and as a preventative therapy, administered at home through a subcutaneous injection.  Salome explains, "Hereditary angioedema, or HAE, is a rare genetic disorder with a prevalence of one in 50,000. It can cause very painful, unpredictable swelling attacks that can occur in the throat, abdomen, hands, feet, and face. And as you can imagine, a throat attack could be potentially life-threatening. There are different triggers for these attacks. Some can just be stress and that could be positive stress like a wedding or going to prom or an illness and others. It can be quite limiting when you have to live thinking if I do something, is that going to trigger an attack? The symptoms can change over time, and HAE may not necessarily look the same for each person. Typically, people with HAE are missing an important protein in their blood called a C1 inhibitor. Either they're missing it or have very low levels, and it just may not work the way it should." "For people who have never heard of HAE, things get a lot more difficult because they rely on their physician, who may or may not be aware of this very rare disease and consider it part of the differential diagnosis. So it is not uncommon to hear patients talk about going for years before they ever got their diagnosis and that they were experiencing symptoms during that time, going to the emergency room, and maybe even being misdiagnosed with another condition until they finally saw someone who thought, oh, you know what? We should screen you for HAE." "Screening is really just a blood test. So, you would screen for a C4 level, which would be low or normal. If you're thinking about whether this could be HAE, then you would go ahead and check a C1 inhibitor level and a functional C1 level, and then those would be low as well. It's really about educating people, though, to consider it as part of the differential diagnosis."  #Takeda #HAE #HereditaryAngioedema #RareDisease takeda.com Listen to the podcast here

Graham Kirk spoke to Patricia on living with a rare genetic disease Hosted on Acast. See acast.com/privacy for more information.

Questions answered this episode: I'm getting married soon and I know that there will be no marriage in heaven. Recently the thought of spending such a short life with my future husband and then eternity alone has crept in. Can the TOB speak into this? I have a genetical disease that has a 50% probability of being passed on. Can the Theology of the Body provide help to discern if I should take the risk? In my marriage, my husband seems to use sex like a drug. Can I refuse to engage in intercourse out of love? Ask Christopher West is a weekly podcast in which Theology of the Body Institute President Christopher West and his beloved wife Wendy share their humor and wisdom, answering questions about marriage, relationships, life, and the Catholic faith, all in light of John Paul II's beautiful teachings on the Theology of the Body.

Chief Executive Officer Paul Rayson welcomes Associate Professor Gina Ravenscroft. Gina is an Associate Professor in Neurogenetics at the Harry Perkins Institute of Medical Research in Perth. Her research interests are in rare genetic diseases, with a particular focus on neurogenetic diseases in babies and children. Assoc. Prof Ravenscroft and her team have identified more than 20 novel human disease genes in recent years. Gina brings a wealth of expertise to our conversation, tune in to explore the fascinating insights of Associate Professor Gina Ravenscroft as she shares stories of international collaboration and the direct impact of her research into rare genetic diseases.This is a Hearts & Minds Podcast, in partnership with Equity Mates MediaFor more information about HM1 and the upcoming Sohn Hearts & Minds Conference visit our website hereDisclaimer:This communication has been prepared by Hearts and Minds Investments Limited (ABN 61 628 753 220). In preparing this publication the investment objectives, financial situation or particular needs of an individual have not been considered. You should not rely on the opinions, advice, recommendations and other information contained in this publication alone. The inclusion of third-party content does not in any way imply any form of endorsement by HM1 of the products or services provided by persons or organisations who are responsible for the third-party content. This publication has been prepared to provide you with general information only. It is not intended to take the place of professional advice and you should not take action on specific issues in reliance on this information. Past performance is not a reliable indicator of future performance. Hosted on Acast. See acast.com/privacy for more information.

On this episode, Tara sits down with a close family friend, Jenny Callen, to discuss the unique challenges of living with a genetic disease that impacts not only her physical health, but also her social interactions. Jenny expresses how important it is to normalize the conversation around special needs and how it could have an impact on the way people react when they notice someone that is different from them. Hosted on Acast. See acast.com/privacy for more information.

Hereditary ATTR amyloidosis, or hATTR amyloidosis, is a rare, inherited condition that has an increased prevalence among people of African descent. This week, Dr. P is joined by Alnylam Patient Education Liaison (PEL), Valerie Graham, and Cece, who is living with hATTR amyloidosis, to learn more about the condition. We'll talk about the importance of discussing health history within families and the role genetic testing can play in helping to determine someone's risk for developing a disease. For more information about hATTR amyloidosis, and to request to speak with an Alnylam PEL who can answer questions you may have about hATTR amyloidosis, please visit www.hATTRbridge.com.Content sponsored and provided by Alnylam Pharmaceuticals. TTR-USA-00279Valerie Graham Valerie is a Patient Education Liaison (PEL) at Alnylam Pharmaceuticals. In her role, she is responsible for educating individuals and their families about hATTR amyloidosis – a rare, inherited condition. PELs are employees of Alnylam Pharmaceuticals. They do not act as healthcare providers and should not be considered part of your healthcare team.CeceCece's journey with hATTR amyloidosis began when she started to experience symptoms attributed to carpal tunnel syndrome at 55 years old. As time passed and she began to experience additional, unexplained symptoms, including shortness of breath, peripheral neuropathy and leg swelling, she was determined to find the cause. After years of searching for answers, she was eventually diagnosed with hATTR amyloidosis. Today, Cece is focused on educating the community about this inherited condition and encouraging others to advocate for their health and never give up.   

Today we're talking about talking – finding openness and trust in our leadership and our relationship with the people around us, and unlocking authentic leadership in the process.Peter de Silva is a highly experienced financial industry executive and board member. A former Harvard University Senior Fellow for the Advanced Leadership Initiative, he is the author of ‘Taking Stock – 10 life and leadership principles from my seat at the table' just recently published in March this year.As Retail President for online stockbroker TD Ameritrade, he was responsible for the $5bn retail business segment and 5,000 employees. He also served as President of Scottrade Financial Services and UMB Financial Corporation, as well as being a senior leader at Fidelity Investments.As well as his extensive business career, Peter is also shaped by his experience with a debilitating neurological condition, Charcot Marie Tooth (CMT) disease, something he chose not to share with others for decades. He says “I believe that life experiences test the impressions people hold, values they set and believe, or a set of actions that people might want – or not want – to emulate."I'm looking forward to hearing more about his journey in business and in life, how he balanced wellbeing and work, and the moments of remarkable clarity that shaped his path.--Peter de Silva: https://peterjdesilva.com/Peter de Silva on LinkedIn: https://www.linkedin.com/in/peter-j-desilva/Taking Stock: 10 Life and Leadership Principles from My Seat at the Table: https://www.amazon.co.uk/Taking-Stock-Leadership-Principles-Table/dp/B0BZF9GG7Z

CRISPR has emerged as a powerful tool for altering DNA sequences with incredible precision, opening up new avenues of research into the treatment of disease. In this episode, we explore the science behind CRISPR, as well as its potential. From curing genetic disorders to creating new crop varieties, the possibilities seem endless. Our four guests today are scientists working to push these gene editing tools to the next frontier.

While rare diseases often get left behind in the race for cures, a new approach from the National Institutes of Health hopes to make clinical trials more efficient, less expensive, and more accessible to patients who are suffering from rare genetic diseases. WBZ's Laurie Kirby spoke with Dr. Julie Gerberding, CEO of the Foundation for the National Institutes of Health, about the new "Bespoke" Consortium.

CRISPR has emerged as a powerful tool for altering DNA sequences with incredible precision, opening up new avenues of research into the treatment of disease. In this episode, we explore the science behind CRISPR, as well as its potential. From curing genetic disorders to creating new crop varieties, the possibilities seem endless. Our four guests today are scientists working to push these gene editing tools to the next frontier.

In a rapidly changing technology environment, how do established businesses tackle smart growth and continue transformative change?  In this special edition of Talking Biotech Podcast we examine the business climate of Regeneron, and how growth in the era of genomics and massive data sets from human health changed the process of drug discovery, but also changed how the company would respond to new opportunities and challenges. Dr. Jeffery Reid, Chief Data Officer, explains where the company was, and how it has changed with the rocketing pace of data acquisition and integration. 

What if you could program a cell directly to fight cancer? What if you could solve the 7,000 genetic diseases facing our species? This type of science fiction is now a reality, thanks to today's guests on the Beat the Often Path Podcast. Joining me today are Omar Abudayyeh and Jonathan Gootenberg, creators of the AbuGoot lab at MIT, two people leading the way in gene therapy, gene editing, and CRISPR innovations. The AbuGoot lab combines natural biological discovery and molecular engineering to develop a suite of new tools for manipulation of DNA, RNA, and cellular states – the cellular engineering toolbox. In short, it doesn't get more cutting edge than this. ➡️ https://www.abugootlab.org/ ➡️ Highlights: https://rosspalmer.com/omar-abudayyeh  

Dr. Wendy Chung's childhood fascination with puzzles and mysteries gives her an edge when it comes to solving the mysteries of genetic diseases. In conversation with Host Catherine Price, Dr. Chung outlines her innovative work with The Human Genome project, her role in identifying the genes that cause spinal muscular atrophy and the collaborative efforts that went into developing life-sustaining treatments. Dr. Chung also discusses the GUARDIAN Program – which uses the newborn heel prick test to screen for a wide variety of genetic diseases, thereby providing equitable access to diagnosis and life-saving care to all infants. The views shared on this podcast solely reflect the expertise and experience of our guests. For more information visit nyp.org/Advances

To join our private health community. Check out https://www.beyondmedicinegroup.com/Casey Mcpherson is a Musician and Artist on a mission to find a cure for his daughter Rose. Rose is a 6-year-old girl who was born with a rare genetic disease. Faced with a grim prognosis, Casey set out on a path to find a cure for his daughter by starting a lab a building a team to find a cure. You can learn more about Rose here at the To Cure a Rose Foundation. To connect with Casey, you can find him on Linkedin here. https://www.linkedin.com/in/caseymcpherson/Episode Notes:1. What is the story of Casey and Rose. 2. The problem with rare genetic disease funding.3. Running a genetic disease research company.4. The moment of diagnosis. Facing denial. Grieving. Finding Purpose. 5. What is Rose like.6. The problems of finding a cure for rare genetic diseases. 7. How does gene therapy work?8. What Casey has learned in this process. 

Ethan Schachter was born with a rare genetic disease, nemaline myopathy type 2—a type of muscular dystrophy—that disproportionately affects Ashkenazi Jews. It's not always fatal, but Ethan, at 20 months, needs round-the-clock care, including a machine to help him breathe and a tube for nutrition. He can't walk or talk because his muscles are too weak. Currently, there is no cure. Doctors have only known about this form of the disease for about 15 years. And it's so rare—only one in 47,000 people have it—that couples trying to conceive aren't even screened for it in Canada, where Ethan is one of maybe four or five kids who live with the condition. Ethan's mother, Toba Cooper, wants to change things. She recently launched a crowdfunding campaign to raise more than a million dollars to help researchers develop a made-in-Canada treatment for her son's condition. And she hopes to raise awareness so the condition could be added to the list of eligible tests. Cooper joins The CJN Daily today along with Jim Dowling, a doctor at SickKids Hospital in Toronto, who is one of the world's foremost experts on this rare disease. What we talked about: Donate to Toba Cooper's crowdfunder Learn more about nemaline myopathy type 2 Learn about Jewish genetic diseases awareness testing Credits The CJN Daily is written and hosted by Ellin Bessner (@ebessner on Twitter). Zachary Kauffman is the producer. Michael Fraiman is the executive producer. Our theme music is by Dov Beck-Levine. Our title sponsor is Metropia. We're a member of The CJN Podcast Network. To learn how to support the show by subscribing to this podcast, please watch this video.

Ayla Bashir has Pompe disease, a rare genetic condition that is often fatal before your first birthday. But thanks to a new in-utero treatment, Ayla is now a happy 17-month-old baby, hitting all of her milestones. Matt Galloway talks to her parents, Sobia Qureshi and Zahid Bashir, and the family's pediatrician Dr. Pranesh Chakraborty.

AP correspondent Ed Donahue on Fetal Treatment.

Brett Stelmaszek and two of his friends live-streamed their cross-country trip to raise money for their sons' rare genetic disease. Stelmaszek joins Pete McMurray and Jane Clauss to talk about how they were able to live stream the entire trip, what is it like being a social media influencer, and why all of the donations are going to the SynGAP Research Fund.See omnystudio.com/listener for privacy information.

Hosted by Andrew Keen, Keen On features conversations with some of the world's leading thinkers and writers about the economic, political, and technological issues being discussed in the news, right now. In this episode, Andrew is joined by Alice Wexler, author of The Analyst: A Daughter's Memoir. Alice Wexler is the author of a two-volume biography of Emma Goldman as well as Mapping Fate: A Memoir of Family, Risk, and Genetic Research (1995) and The Woman Who Walked Into the Sea: Huntington's and the Making of a Genetic Disease (2008). She is a former Guggenheim fellow and is active on the board of the Hereditary Disease Foundation. Learn more about your ad choices. Visit megaphone.fm/adchoices

In this episode, Ayesha discussed the FDA approval of Sanofi's enzyme replacement therapy Xenpozyme for the treatment of non-central nervous system (non-CNS) manifestations of acid sphingomyelinase deficiency (ASMD), a rare genetic lysosomal storage disease, in adults and pediatric patients. The drug is administered intravenously every two weeks and in clinical trials, demonstrated significant improvements in lung function as well as reductions in spleen and liver sizes. Hear more about the rare, fatal disease and the new drug approval for it.Ayesha also talked about Medtronic's new partnership with former Disney star Jennifer Stone on a new ad campaign for its diabetes tech, including the smart insulin injector InPen. Hear about Jennifer's story as a type 1 diabetes patient and how the InPen helps patients like her simplify their diabetes management. Through the ad campaign, Medtronic is hoping to increase awareness about advanced diabetes tech like the InPen. The company is also working on new connected tech to integrate its different diabetes device offerings.Read the full articles here:Sanofi's Enzyme Replacement Therapy Xenpozyme Wins FDA Approval for Rare Disease ASMDMedtronic's InPen Gets Backing from Disney Star Jennifer Stone in Diabetes Tech CampaignFor more life science and medical device content, visit the Xtalks Vitals homepage.Follow Us on Social MediaTwitter: @Xtalks Instagram: @Xtalks Facebook: https://www.facebook.com/Xtalks.Webinars/ LinkedIn: https://www.linkedin.com/company/xtalks-webconferences YouTube: https://www.youtube.com/c/XtalksWebinars/featured

We are excited to welcome Dr. Jeffrey Brosco to the NBSTRN SPOTlight today. Dr. Brosco will share moving stories from his lifetime of experiences caring for children and families as a clinician who specializes in Developmental-Behavioral Pediatrics. Dr. Brosco has both an M.D. and a Ph.D. degrees from the University of Pennsylvania, and he serves as Florida's Title V Director for Children and Youth with Special Health Care Needs. Dr. Brosco has written numerous articles on the ethical, legal, social implications of newborn screening and along with Diane Paul, he authored a book called The PKU Paradox: A Short History of a Genetic Disease.  In 2019 Dr. Brosco was awarded the Maternal and Child Health Bureau Director's Award for contributions to the health of infants, mothers, children, adolescents, and children with special health care needs across the United States. Listen along with us as Dr. Brosco discusses a wide range of topics including the use of genomics to help end the diagnostic odyssey for families.      Podcast Interview Questions for Dr. Jeff Brosco You are a pediatrician with a specialty in Developmental-Behavioral Pediatrics and also currently the State of Florida's Title V Director for Children and Youth with Special Health Care Needs.How did you get involved with newborn screening research? (Perhaps, you can give our listeners some background on Title V and your role as the director in your response). You have written numerous articles on the ethical, legal, social implications of newborn screening. In one of your articles, you mentioned that whole and exome sequencing can add medical insights for families in the ‘diagnostic odyssey' but in some case, families are still on the therapeutic odyssey. Here, you proposed a family-center approach to care in the genomic era. Could you elaborate to our listeners what this would be? Research helps to advance newborn screening by increasing the number of conditions that may be a fit for early identification and intervention. Where do you think the next decade of research will take newborn screening? In your recent publication, titled “Newborn Screening in Latin America: A Window on the Evolution of Health Policy,” you hypothesized that the history of NBS programs could be used to understand the development of health policy. Please share some of your takeaways from this effort and which comes first – NBS expansion or health policy – or are they intertwined? Are there unique game changers from a historical perspective that resulted in significant change? Are you involved in training the next generation of developmental-behavioral pediatricians and what do you tell them about newborn screening research? You played a key role in advancing the efforts of the NBSTRN for many years. What role does NBSTRN play? What role could NBSTRN play in your efforts to addressing the ethical, legal, social implications of NBS? As you think about your career as a clinician, are there any patient or family stories that you'd like to share with our audience? What does NBS research mean to you? To become a member of NBSTRN, sign up a free membership account at www.nbstrn.org  

Hello everyone in this episode I will be talking about life living with both Genetic Conditions and Disabilities and so much more etc --- Send in a voice message: https://anchor.fm/wondergirlsaida/message

James MacDougall, 37, fathered children with lesbian women through private donations advertised on social media despite knowing he had incurable Fragile X syndrome, a genetic disorder that leads to low IQ and developmental delay. This is a link to my fb group points of view https://www.facebook.com/groups/10902... https://www.spreaker.com/episode/4972... Twitter.com Hardtalkradio Live in 4k Instagram Hardtalk79 Anchor.fm https://anchor.fm/red-pill-man https://cash.app/$HARDTRADIO Feel free to donate if you feel to do so and like the content. If you have any current event stories or videos that you want me to cover hit me up at Redpillman1988@gmail.com --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app Support this podcast: https://anchor.fm/red-pill-man/support

I think you will enjoy this conversation that I had with Melody.  She was Diagnosed with a rare genetic autoimmune disorder called Jobs Syndrome. Such a severe allergies, asthma, infections since she was a baby...and at 52 years old she discovered what had been going on all her life.  We talked about gut health and topical steroid withdrawal and so much more. It's fascinating and shows the power of investigating and natural and asking more questions. https://www.itsan.org/ She shares her story so that others can see their way out of the darkness.  Melody Belliveau is a Content Writer, Speaker, and Creator of The Social-Commentary.Com whose passion and purpose is to share a message of light on the darkness life can sometimes bring.  You can find her:  www.TheSocial-Commentary.Com https://www.linkedin.com/in/bmelody320/ Twitter is @BelliveauMelody Facebook https://www.facebook.com/melody.belliveau -------------------- Love this podcast?    Continue to support by liking, sharing and writing a 5 star review on Podbean or Itunes.   Buy me a cup of coffee here. https://www.buymeacoffee.com/juggling OR  Purchase your own Journey to Joy Journal .           

Bendigo greyhound club boss Troy Harley and his daughter Kaylene, who has a rare genetic disease called Noonan Syndrome joins Matt Nevett to chat about the challenges they face and their love of dogs.

Body image and dealing with a disease called lipedema. --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app Support this podcast: https://anchor.fm/pawsn2wetnosesyahoocom/support

Peek into the future of gene therapy and its capacity to treat – maybe eliminate – genetic diseases like cancers and hemophilia. Plus, the potential to reverse the effects of aging. It's a future scientists have been working toward for years: How to treat complex health  problems with gene therapy. And researchers have been making progress. Diagnoses once thought to be fatal are now being looked at in a new light.This is a welcome sight for physicians, caregivers, and – most of all – for the patients living with these genetic diseases. One disease that's impacting lives worldwide is cancer. Nearly 40% of the world's population will be diagnosed with it at some stage of life.Typically, cancer treatment takes three forms: chemotherapy, surgery, or radiation therapy. Targeted drug therapies also exist, which work by identifying and attacking cancer cells individually.But the treatment that many believe has the most potential is immunotherapy.Immunotherapy uses a patient's immune system to target and destroy cancerous tumors. And a specific type of immunotherapy known as Chimeric antigen receptor (or CAR) T-cell therapy has particular promise.Over the last few years, progress with this new class of gene-based treatment has accelerated.CAR T-cell Therapy is when a patient's own immune cells – the white blood cells called T cells – are genetically altered to target and attack a specific cancer within the body. These cells are first removed from the patient's blood. Their genes are then altered to produce proteins called CARs, which allow the T cell to better recognize – and attack – specific cancer cells. When the altered immune cells are reintroduced into the patient's bloodstream, these proteins latch onto both healthy and cancerous cells, destroying the cancerous cells while leaving the healthy cells unharmed.CAR T-cell Therapy has the ability to revolutionize cancer treatment and prevent relapse, as  these cells can potentially continue to attack cancerous cells in a patient's body for years. But it's not a solution for everyone. Only about 40% of patients have long-term responses.But if this therapy achieves what scientists believe it can, chemotherapy could be a thing of the past, and when it comes to the future of gene therapy and genetic diseases, there's reason for optimism.For more education on gene therapy, visit www.genetherapynetwork.com.

The advent of noninvasive prenatal testing allow for the use of a simple blood draw from a pregnant woman to tests fetal DNA for genetic conditions. As with liquid biopsies, these test rely on capturing cell-free DNA from the fetus circulating in the mother's blood. We spoke to Paul Billings, chief medical officer for Natera, about the state of non-invasive prenatal testing, the growing use of these tests, and the range of conditions they can detect.

Want to learn a little bit about where the fear and stigma around cousin marriages come from? Ready to be challenged by listening in on a conversation between two genetic counselors discussing past work with families facing uncertain, traumatic pregnancies? Things get real really fast in this episode. We will warn you upfront, some listeners might struggle with some parts of the conversation. Janice Berliner is a genetic counselor and author whose first novel "Brooke's Promise" is the main point of discussion. In this episode, Brianne and Janice cover a lot of ground. The topics you can expect to hear about are: hereditary genetic diseases unexpected family relationship discoveries accidental incest and cousin couples other ethical challenges faced by the main characters in Janice's novel "Brooke's Promise" Janice has chosen to be vague in talking about the details of her novel's storyline, so as not to give away the ending! But she opens up with Brianne and listeners of DNA Clarity and Support about the issues the characters face. Issues like: facing social stigma thoughts of pregnancy termination grappling with the diagnosis of a life-limiting disease in an infant uncovering upsetting information about genetic family relationships that brings everything into question This episode is different from previous episodes of DNA Clarity and Support, as we take the discussion to the edge of what's within the comfort zone for most people. We give you a sense of how genetic counselors can be a resource and a safety net when things go sideways in the world of DNA testing. Brianne briefly mentions resources for those in the community of adoptees, NPE ("not parent expected") discovery-makers, and genealogists and search angels who make a discovery of closely related bio parents. This is sometimes called a high ROH discovery. Here's information from WatershedDNA.com to help you know where to go and what to do next: What is "high ROH"? How a high ROH discovery granted a sense of relief and healing for one person Encouraging compassion around ROH discoveries If you are curious to understand more about hereditary genetic disease and are willing to explore the ethical twists and turns that arise for a family raising a medically fragile child, order your copy of Brooke's Promise. Reach out to Janice at info@JaniceBerliner.com with your thoughts! You can find Brooke's Promise at these places: Amazon Barnes and Noble Good Reads Janice Berliner's website Brianne's book The DNA Guide for Adoptees includes chapters on many topics discussed in today's episode, including high ROH, support resources for those making unexpected DNA discoveries, and medical genetics. Find your copy here: WatershedDNA.com Amazon --- Send in a voice message: https://anchor.fm/watershed-dna/message Support this podcast: https://anchor.fm/watershed-dna/support

Cystic fibrosis was once a mysterious disease that killed infants and children. Now it could be the key to healing millions with genetic diseases of every type—from Alzheimer's and Parkinson's to diabetes and sickle cell anemia. In 1974, Joey O'Donnell was born with strange symptoms. His insatiable appetite, incessant vomiting, and a relentless cough—which shook his tiny, fragile body and made it difficult to draw breath—confounded doctors and caused his parents agonizing, sleepless nights. After six sickly months, his salty skin provided the critical clue: he was one of thousands of Americans with cystic fibrosis, an inherited lung disorder that would most likely kill him before his first birthday. The gene and mutation responsible for CF were found in 1989—discoveries that promised to lead to a cure for kids like Joey. But treatments unexpectedly failed and CF was deemed incurable. It was only after the Cystic Fibrosis Foundation, a grassroots organization founded by parents, formed an unprecedented partnership with a fledgling biotech company that transformative leaps in drug development were harnessed to produce groundbreaking new treatments: pills that could fix the crippled protein at the root of this deadly disease.  From science writer Bijal P. Trivedi, Breath from Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever (Benbella, 2020) chronicles the riveting saga of cystic fibrosis, from its ancient origins to its identification in the dank autopsy room of a hospital basement, and from the CF gene's celebrated status as one of the first human disease genes ever discovered to the groundbreaking targeted genetic therapies that now promise to cure it. Told from the perspectives of the patients, families, physicians, scientists, and philanthropists fighting on the front lines, Breath from Salt is a remarkable story of unlikely scientific and medical firsts, of setbacks and successes, and of people who refused to give up hope—and a fascinating peek into the future of genetics and medicine. Galina Limorenko is a doctoral candidate in Neuroscience with a focus on biochemistry and molecular biology of neurodegenerative diseases at EPFL in Switzerland. To discuss and propose the book for an interview you can reach her at galina.limorenko@epfl.ch. Learn more about your ad choices. Visit megaphone.fm/adchoices

Rachael Casella is a mother, a wife, and a friend. She's also a pioneer for parents when it comes to genetic testing for their unborn children. Rachael has lived through every parents worst nightmare. Somehow through her grief she's managed to find purpose and fight, and has created incredible opportunity for Australians through Mackenzie's mission.Learn more about MacKenzie's Mission and follow Rachael's journey at mylifeoflove.com.Content warning: This episode depicts infant loss and grief. For support please contact Bears of Hope on 1300 11 4673 or Lifeline on 13 11 14.Credits:Joanne Helder - ProducerCaleb Jacobs - MusicAJ Davis - Comms ManagerPlease DM us your thoughts and burning questions to @whatsthedeep or head to zoemarshall.com/thedeep.The Deep is a place for you. If you love it please subscribe and leave us a rating or comment if that tickles your fancy.The Deep acknowledge the Traditional Custodians of the land on which we work and live, and recognise their continuing connection to land, water and community. We pay respect to Elders past, present and emerging.

It began as a Facebook post for someone looking for help getting a child with a rare neurological condition whole genome sequencing. It resulted, though, in groundbreaking work by Timothy Yu, a neurologist and attending physician in the Division of Genetics and Genomics at Boston Children's Hospital to develop a custom antisense oligonucleotide therapy for the little girl, who had a rare form of the neurodegenerative condition Batten disease. The work to design and deliver an antisense therapy in under a year has excited the rare disease community for the potential of individualized therapy that address the underlying genetic mechanisms of rare diseases. We spoke to Yu about his work, the potential to industrialize the creation and delivery of individualized therapies for rare disease patients, and the challenges that need to be addressed.

In today's episode, I spoke to Gaurav Jhunjhnuwala, a 33 year old New Delhi based businessman, investor and speaker. Gaurav is affected by a rare eye disease which resulted in him losing his vision and becoming blind by the age of 20. Rather than allowing this to slow him down, his condition has only fuelled his passion and purpose in life further. When he's not scaling his startups, Gaurav spends his time coaching people from all over the world on how to bring a winning mindset to their life, work and relationships. This is a truly inspirational episode you will not want to miss! You can find more from Gaurav via: Instagram- www.instagram.com/themindmonk Facebook- facebook.com/themindmonk

Ali Mazaheri joins us on today's episode. Ali is currently the Chief Architect at the Microsoft Technology Center in Irvine, California, specializing in application development and open source software. He's spent the last 14 years at Microsoft in various customer facing technical roles, and spent his early career developing software in various industries including financial services and banking. Ali has been writing code since the age of 19, and as you'll see, his love and passion for technology bleeds through both technically and philosophically through the talk. Ali is also a thought leader and technical contributor in bio medical industry and community, through his work with continuous glucose monitoring solutions, and we talk about the organizations and solutions that he helps to contribute to and represent, including NightScout, Tidepool, and Loop.Ali, in every bit of his ethos, represents the current landscape of communal open source culture, where opportunities for interoperability, sharing vulnerabilities, learning from others, and contributing strengths in a pay it forward model, is helping him make meaningful impacts across to his customers, his community, and as you will hear, his family.Big themes covered in the talk:-A personal journey of Ali's family experiences, through his son Sam, with Diabetes Type 1, a genetic auto-immune disease: the hard human moments, and the communal evolution of open source technology-How the ethos of interoperability, sharing vulnerabilities, learning from others, and contributing strengths in a pay it forward model, has helped to make meaningful impacts across to customers, community, and family.-The real challenges of epidemics and disease to families, and why waiting cannot be an option.-How to teach big businesses to be more communal: sharing data, processes, innovations, and breakthroughs to empower each other for accelerations in human health and progress.-Re-coding your mindset to turn "being bitter", into "being better", the power of positivity and mental resiliency in the wake of life's challenges.Thank you so much for listening!Ways to Contact Ali:Twitter: https://twitter.com/AliMazaheriLinkedIn: https://www.linkedin.com/in/alimazaheri/People mentioned:https://twitter.com/shanselmanhttps://twitter.com/bewestisdoinghttps://twitter.com/danamlewishttps://www.linkedin.com/in/edraskin Resources:https://vimeo.com/user64743589/openapshttps://youtu.be/kv2S2f_C37Ahttps://openaps.org/https://loopkit.github.io/loopdocs/https://www.tidepool.org/https://www.microsoft.com/en-us/mtchttps://techcommunity.microsoft.com/t5/Student-Developer-Blog/Meet-the-2019-Imagine-Cup-World-Champion-team-EasyGlucose-from/ba-p/533238What is Open Source explained in LEGOLearn more at www.thedatabinge.comConnect with Derek on LinkedIn | Instagram | Twitter

Get 3 FREE books for signing up to our newsletter: https://endalldisease.com/subscribe We are commonly told that cancer is a genetic disease; that if somebody in your family has had cancer you are at increased risk of getting it because “it's in your genes.” Today we're going to put the genetic theory of cancer to the test to find out once-and-for-all if cancer is a genetic disease.  From studies on frog egg tumor transplants, to cybrids to the cancer genome atlas project, we're going to look deep into the evidence and see what we find. For the show notes, go to: http://www.endalldisease.com/episode11 All of my videos, podcasts and articles are and will always be free.  If you enjoyed this video and want to support my work, you can do so by donating, buying one of my bestselling books or red light therapy devices below. Check out our red light therapy store: https://endalldisease.com/store Read my books: https://endalldisease.com/books Donate : ►Paypal: https://www.paypal.me/endalldisease Thanks for listening! Don't forget to subscribe, will see you in the next episode. ► Facebook: https://www.facebook.com/EndAllDisease  ► Twitter: https://www.twitter.com/endalldisease_

How did clinicians learn to see the human genome? In Life Histories of Genetic Disease (Johns Hopkins University Press, 2016), Andrew J. Hogan makes the subtle argument that a process described by scholars of biomedicine as “molecularization” took place gradually and unevenly as genetic tools became applied to prenatal diagnosis. Hogan follows the notion of a “one mutation, one disease” perspective that provided the rhetorical and epistemic scaffolding for the Human Genome Project's imaginary of genetic medicine as it emerged and developed within the clinic. His deft analysis of visual practices and careful unpacking of the scientific literature make for an engaging read. This fresh alternative to the well-worn heroic narratives of gene sequencing and molecular genetics should be of particular interest to scholars of disability. If you're interested in learning more about the history and politics of genetic counseling, check out my interviews with Alexandra Minna Stern and Stefan Timmermans. Mikey McGovern is a PhD candidate in Princeton University's Program in the History of Science. He works on computing, quantification, communication, and governance in modern America. Learn more about your ad choices. Visit megaphone.fm/adchoices

How did clinicians learn to see the human genome? In Life Histories of Genetic Disease (Johns Hopkins University Press, 2016), Andrew J. Hogan makes the subtle argument that a process described by scholars of biomedicine as “molecularization” took place gradually and unevenly as genetic tools became applied to prenatal diagnosis. Hogan follows the notion of a “one mutation, one disease” perspective that provided the rhetorical and epistemic scaffolding for the Human Genome Project's imaginary of genetic medicine as it emerged and developed within the clinic. His deft analysis of visual practices and careful unpacking of the scientific literature make for an engaging read. This fresh alternative to the well-worn heroic narratives of gene sequencing and molecular genetics should be of particular interest to scholars of disability. If you're interested in learning more about the history and politics of genetic counseling, check out my interviews with Alexandra Minna Stern and Stefan Timmermans. Mikey McGovern is a PhD candidate in Princeton University's Program in the History of Science. He works on computing, quantification, communication, and governance in modern America. Learn more about your ad choices. Visit megaphone.fm/adchoices

David Liu's office on the eighth floor of the Broad Institute in Cambridge, Massachusetts is designed to quiet the mind. A museum-grade gemstone collection lines the walls, interspersed with blue-tinged photos Liu has taken of inspiring science-on-location scenes—the concrete corners of the Salk Institute, a sunset through the Scripps pier, the lights of Durango, Colorado where Darpa often meets.

One July afternoon last summer, Matt Wilsey distributed small plastic tubes to 60 people gathered in a Palo Alto, California, hotel. Most of them had traveled thousands of miles to be here; now, each popped the top off a barcoded tube, spat in about half a teaspoon of saliva, and closed the tube. Some massaged their cheeks to produce enough spit to fill the tubes.

In late 2012, French microbiologist Emmanuelle Charpentier approached a handful of American scientists about starting a company, a Crispr company. They included UC Berkeley's Jennifer Doudna, George Church at Harvard University, and his former postdoc Feng Zhang of the Broad Institute—the brightest stars in the then-tiny field of Crispr research. Back then barely 100 papers had been published on the little-known guided DNA-cutting system. It certainly hadn't attracted any money.