Podcasts about chromosomal

Heather Lino's then 3 year old son James was given a double whammy in 2020 when he was first diagnosed with T Cell Acute Lymphoblastic Lymphoma in July, and then roughly one month into his treatment he was diagnosed with a Chromosomal disorder known as Ring 14 Syndrome. This disorder affects 200-250 people around the world. This affliction causes seizures and intellectual disabilities and can have other problems associated with it as well. James is now 8 years old and is living his best life possible. 

Adam and Eve, Ask and Embla, Deucalion and Pyrrha... The cultures of the world seemingly love the idea of humanity descending from two founders. While this notion may not be in line with scientific thought, there are two individuals who everyone can trace either maternal or paternal ancestry to. Say hello to mitochondrial Eve and Y-chromosomal Adam... Sources for this episode: Berta, P., Hawkins, J. R., Sinclair, A. H., Taylor, A., Griffiths, B. L., Goodfellow, P. N. and Fellous, M. (1990), Genetic evidence equating SRY and the testis-determining factor. Nature 348: 448- 450. Callaway, E. (2013), Nature News, Genetic Adam and Eve did not too far apart in time (online). (Accessed 18/10/2020). Chan, E. K. F., Timmermann, A., Baldi, B. F., Moore, A. E., Lyons, R. J., Lee, S.-S., Kalsbeek, A. M. F., Petersen, D. C., Rautenbach, H., Förtsch, H. E. A., Bornman, M. S. R. and Hayes, V. M. (2019), Human origins in a southern African palaeo-wetland and first migrations. Nature 575: 185- 189. Chiaroni, J., Underhill, P. A. and Cavalli-Sforza, L. L. (2009), Y chromosome diversity, human expansion, drift and cultural evolution. Proceedings of the National Academy of Sciences of the United States of America 190(48): 20174- 20179. Fleischmann, T. (2019), The Norse Creation of the Cosmos. MFA, Salem Press Encyclopedia of Literature. Fry, S. (2017), Mythos: The Greek Myths Retold. London: Michael Joseph Ltd (part of Penguin). Ingman, M., Kaessmann, H., Pääbo, S. and Gyllensten, U. (2000), Mitochondrial genome variation and the origin of modern humans. Nature 408: 708- 713. Nass, M. M. K. and Nass, S. (1963), Intramitochondrial fibers with DNA characteristics. The Journal of Cell Biology 10: 593- 611. Sykes, B. (2001), The Seven Daughters of Eve. London: Corgi Books (part of the Random House Group Ltd. Thain, M. and Hickman, M. (2004), The Penguin dictionary of biology, 11th edition, London, Penguin Books Ltd. Author unknown (2010), Holy Bible: International Children's Bible (New Century Version). Milton Keynes: Authentic Media Limited.

In the second part of the STgenetics® Chromosomal Mating® discussion we dive into the updates and utilization of the program. We cover new features, enhanced precision, and how the program seamlessly integrates with STgenetics® broader STrategy™ platform. The discussion continues to expand on genomic testing, the use of various gender-sorted semen types, female and bull selection tools, and how all these elements contribute to the profitability and sustainability of dairy herds.00:00 Introduction to STtalks and Chromosomal Mating®00:31 New Features in Chromosomal Mating®01:56 Optimizing Herd Genetics05:50 Advancements and Changes in Chromosomal Mating®08:10 Benefits and Advice for Dairymen14:43 Key Genetic Traits and Future of Mating Programs17:31 Conclusion and Integrated Approach

STgenetics® Chromosomal Mating® program goes beyond the average breeding decision, and in this STtalks we delve into the core concepts and benefits of this technology in a two-part series. To share their expertise we have Sara Westberry, David Kendall, Adam Taiti and Ron Jackson all on to gives us their insights and experiences. In this first part we learn more about how mating programs benefit dairy farmers today, how Chromosomal Mating® delivers a unique data-driven approach to success and how this can push herd genetics to new heights while controlling inbreeding.

Send us a textMany patients panic when their PGT results show numerous abnormal embryos, fearing that this means they have a high chance of having a baby with a chromosomal disorder. But is that really true? In this episode of Taco Bout Fertility Tuesday, Dr. Mark Amols breaks down the math behind aneuploid embryos, explaining why most won't lead to a live birth and how natural pregnancy risks remain low. Learn how implantation rates, miscarriage risks, and real-world statistics shape the actual chances of having a child with Down syndrome or other chromosomal conditions. If you've ever wondered what your PGT results really mean, this episode is for you!Thanks for tuning in to another episode of 'Taco Bout Fertility Tuesday' with Dr. Mark Amols. If you found this episode insightful, please share it with friends and family who might benefit from our discussion. Remember, your feedback is invaluable to us – leave us a review on Apple Podcasts, Spotify, or your preferred listening platform. Stay connected with us for updates and fertility tips – follow us on Facebook. For more resources and information, visit our website at www.NewDirectionFertility.com. Have a question or a topic you'd like us to cover? We'd love to hear from you! Reach out to us at TBFT@NewDirectionFertility.com. Join us next Tuesday for more discussions on fertility, where we blend medical expertise with a touch of humor to make complex topics accessible and engaging. Until then, keep the conversation going and remember: understanding your fertility is a journey we're on together.

With up to 1,500 estimated cases each year in Ireland, causing fertility issues, premature death in calves and other health problems, Dr Cliona Ryan, genetics and genomics postdoc researcher in Teagasc Moorepark, joins us to discuss new improved methods in identifying these issues. For more episodes and information from the Environment Edge, visit the show page at:https://www.teagasc.ie/environmentedge/

Chromosomal recombination is an essential part of the life cycle of all sexually reproducing organisms. Yet, the system is complex, involving hundreds to thousands of proteins and RNAs. It also involves DNA repair pathways, which are themselves incredibly complex. The newest available information on recombination tells us it is mutagenic, meaning that recombination erodes the very places where recombination happens. How did such a system arise by chance? Can we assume the recombination rate has always been the same? What happens when a new allele arises in the protein that controls recombination? What is the mutation burden caused by this important system? Finally, how does this affect the creation-evolution debate? Links and notes: 15 Questions for evolutionists, #8 How did sex originate? Geeking out about DNA damage repair, June 2023. Grey et al. 2018 PRDM9, a driver of the genetic map, PLoS Genet 14(8):e1007479. Altemose et al. 2017 A map of human PRDM9 binding provides evidence for novel behaviors of PRDM9 and other zinc-finger proteins in meiosis, eLife 6:e28383. Robert Carter gets everything wrong?, creation.com, 10 Jul 2021. Hussin et al. 2011 Age-dependent recombination rates in human pedigrees, PloS Genetics 7(9):e1002251. Wang et al. 2012 Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm, Cell 150(2):402–12. African origins and the rise of carnivory, creation.com,19 Dec 2020. Hinch, A.G. et al., The landscape of recombination in African Americans, Nature 476:170–177, 2011. Hinch et al. 2023 Meiotic DNA breaks drive multifaceted mutagenesis in the human germ line, Science 382:eadh2531.

Chromosomal recombination is an essential part of the life cycle of all sexually reproducing organisms. Yet, the system is complex, involving hundreds to thousands of proteins and RNAs. It also involves DNA repair pathways, which are themselves incredibly complex. The newest available information on recombination tells us it is mutagenic, meaning that recombination erodes the very places where recombination happens. How did such a system arise by chance? Can we assume the recombination rate has always been the same? What happens when a new allele arises in the protein that controls recombination? What is the mutation burden caused by this important system? Finally, how does this affect the creation-evolution debate? Links and notes: 15 Questions for evolutionists, #8 How did sex originate? Geeking out about DNA damage repair, June 2023. Grey et al. 2018 PRDM9, a driver of the genetic map, PLoS Genet 14(8):e1007479. Altemose et al. 2017 A map of human PRDM9 binding provides evidence for novel behaviors of PRDM9 and other zinc-finger proteins in meiosis, eLife 6:e28383. Robert Carter gets everything wrong?, creation.com, 10 Jul 2021. Hussin et al. 2011 Age-dependent recombination rates in human pedigrees, PloS Genetics 7(9):e1002251. Wang et al. 2012 Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm, Cell 150(2):402–12. African origins and the rise of carnivory, creation.com,19 Dec 2020. Hinch, A.G. et al., The landscape of recombination in African Americans, Nature 476:170–177, 2011. Hinch et al. 2023 Meiotic DNA breaks drive multifaceted mutagenesis in the human germ line, Science 382:eadh2531.

In this eye-opening episode of "Taco Bout Fertility Tuesday," we delve into the complex world of chromosomal issues in pregnancy and how risk factors change as women age. From understanding the statistical odds to exploring diagnostic tests, we unravel the science in a way that's easy to digest. Join us as we dissect the facts, and offer a helping hand through the journey of reproductive health.

[Content Warning: This episode discusses physical and sexual abuse] In this episode, we're joined by Maria (she/her), a mother whose life took an unexpected turn when her daughter, Josephine, was diagnosed with Wolf-Hirschhorn syndrome, a rare chromosomal abnormality at two weeks old. Maria shares the challenges and transformations her family experienced, from the initial shock of the diagnosis to their journey towards acceptance and gratitude. Maria shares the emotional rollercoaster from the initial shock of the diagnosis to embracing the realities of special needs parenting. At 36 weeks into her pregnancy, an ultrasound revealed her baby was measuring 10 weeks behind, potentially leading to a c-section and an extended stay in the NICU. Maria believes her extensive research and use of acupressure, essential oils, curb-walking, and determination led to a complication-free, physiological, vaginal birth. Maria reflects on how, despite the initial hardships and endless appointments, she and her husband began to discover the incredible blessings Josephine brought into their lives. Their marriage grew stronger, they formed meaningful friendships, and their prayers were answered in unexpected ways. Grief transformed into profound gratitude as they got to know their little girl. Josephine's life may be different, but it is no less valuable. The experience reshaped Maria's perspective on motherhood, emphasising the power of love and the true meaning of life. Maria has also put all of the evidence and information she researched into a pregnancy and birth app, ⁠Zelie.⁠ It covers useful things to do during each trimester to prepare for birth, pregnancy exercises and stretches, the importance of nutrition - with some great smoothie and food recipes - and things like pain management and breathing techniques for labour. You can download it to iOS or Android. Content Warning: From 48 - 51 minutes, this episode contains discussions about the physical and sexual abuse experienced by children and individuals with disabilities. These discussions can be difficult to hear, so feel free to skip this episode, segment of the episode, or take breaks as needed. I encourage you to seek support (I've listed some resources below) if you find these topics distressing or they bring anything up for you: COPE (Centre of Perinatal Excellence): ⁠⁠⁠⁠⁠https://www.cope.org.au/⁠⁠⁠⁠ Beyond Blue: ⁠⁠⁠https://www.beyondblue.org.au⁠⁠⁠ PANDA: ⁠⁠⁠https://panda.org.au/⁠⁠⁠ Lifeline: ⁠⁠https://www.lifeline.org.au/⁠ To see some photos of Maria and her family, follow us on instagram ⁠⁠@definitelybabypodcast⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠. The Definitely Baby theme music was written by Hagan Mathews and produced at ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠@sleeplessfootscray⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠. The photo in the podcast logo was taken by ⁠⁠⁠⁠@maki.levine⁠⁠⁠⁠. This episode was partially recorded on the lands of the Wurundjeri Wilam and Boon Wurrung/Bunurong peoples of the Kulin Nation. Australia always was and always will be the land of the First Peoples. Every month, I Pay The Rent and so can you - click ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠here ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠to learn more.

In this episode, we review the high-yield topic of ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Chromosomal Structure⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠from the Biochemistry section. Follow ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets --- Send in a voice message: https://podcasters.spotify.com/pod/show/medbulletsstep1/message

References Nature. 2020 Jun; 582(7813): 577–581 Science Immunology 2018.26 Jan Vol 3, Issue 1 --- 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

The Christian Outlook – September 2, 2023 Scott Furrow and Erik Baptist, senior counsel for Alliance Defending Freedom, discuss the legal challenges against the FDA's approval and distribution of the abortion pill, as well as the ethical concerns, and safety issues surrounding it.  Scott Furrow and Nicole Hunt of Focus on the Family talk about the abortion industry's opposition to legislation supporting alternatives to abortion and women's choices for life. Despite claiming to be pro-choice, the industry resists measures that don't align with their profit-driven focus, as seen in examples from Colorado and California. Brian From and Aubrey Sampson invite Michael Graham to discuss his co-authored book, The Great Dechurching: Who's Leaving, Why Are They Going, and What Will It Take to Bring Them Back? Georgene Rice talks with Heidi St. John, a homeschool mom of seven, a podcaster, and author of MomStrong 365: A Daily Devotional to Encourage and Empower Everyday Moms., about how everyone has a unique role to play in fulfilling God's purposes, in this time and season in their life. John Hall and Kathy Emmons talk with Grant Horner, a professor at the Master's University in Santa Clarita, California, about how the transgender movement is attempting to erase the way God has designed humanity.See omnystudio.com/listener for privacy information.

Virginie Courtier-OrgogozoBiodiversité et écosystèmes (2022-2023)Collège de FranceColloque - Integrating Evolutionary Genetics and Ecology : How Do Genomic Architecture and Ecological Processes Interplay during Evolution? The Example of Chromosomal Inversions in Seaweed FliesClaire Mérot, université de Rennes, Rennes, France

Human pluripotent stem cells have an unlimited capacity to self-renew in culture. This feature, along with their ability to become any cell type in the adult body, makes them a unique tool to study human biology in health and disease. Unfortunately, human pluripotent stem cells have a propensity to acquire genetic abnormalities in culture that may limit their scientific and clinical use.Among the most prevalent genomic changes found in pluripotent stem cells are various forms of over-representation of sequences on the long arm of chromosome 20, with up to 20% of tested cultures containing such an aberration. One such anomaly, the isochromosome 20 mutation, is also found in amniocentesis analyses.  In  this episode, Martin Pera is joined by three scientists, who along with their colleagues, authored the recent paper published in Stem Cell Reports entitled, The isochromosome 20q abnormality of pluripotent cells interrupts germ layers differentiation.  This publication explores the effects of this particular anomaly on the ability of pluripotent stem cells to differentiate both spontaneously and by directed differentiation.  The results were surprising, with implications for understanding early development and the potential therapeutic use of pluripotent stem cells. The authors  also discuss some of the challenges of working with pluripotent stem cells. GuestsIvana Barbaric, PhD, University of Sheffield, UK Pete Coffey, PhD, University College London and the University of California, Santa Barbara, US Loriana Vitillo, PhD, University College London, UKHostMartin Pera, PhD, Editor-in-Chief, Stem Cell Reports and The Jackson LaboratoryTwitter: @martinperaJAXSupporting ContentThe isochromosome 20q abnormality of pluripotent cells interrupts germ layer differentiation, Vitillo, et. al., Stem Cell Reports (2023)About Stem Cell ReportsStem Cell Reports is the open access journal of the ISSCR for communicating basic discoveries in stem cell research, in addition to translational and clinical studies. Stem Cell Reports focuses on original research with conceptual or practical advances that are of broad interest to stem cell biologists and clinicians. Twitter: @StemCellReportsAbout ISSCRWith more than 4,600 members from 75+ countries, the International Society for Stem Cell Research (@ISSCR) is the preeminent global, cross-disciplinary, science-based organization dedicated to stem cell research and its translation to the clinic. The ISSCR mission is to promote excellence in stem cell science and applications to human health.ISSCR StaffKeith Alm, Chief Executive OfficerYvonne Fisher, Managing Editor, Stem Cell ReportsKym Kilbourne, Director of Media and Strategic CommunicationsJack Mosher, Scientific AdvisorVoice WorkBen Snitkoff

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.03.02.530628v1?rss=1 Authors: Schenkel, L., Wang, X., Le, N., Burger, M., Kroschewski, R. Abstract: In eukaryotes, chromosomes are wrapped in an endoplasmic reticulum (ER)-derived envelope to form the nucleus. Whether any DNA, or only chromosomes, can be enveloped in this way is unclear. Live-cell imaging revealed that DNA transfected into mammalian cells was either captured directly in the cytoplasm, or if it entered the nucleus was soon expelled from it. In the cytoplasm, plasmid DNA was rapidly surrounded by an ER-derived double membrane and frequently colocalized with extra-chromosomal DNA of telomeric origin expelled from the nucleus. Therefore, this structure was termed exclusome. Exclusome membranes contain the inner-nuclear membrane proteins Lap2{beta} and Emerin but differ from the nuclear envelope by the absence of the Lamin B Receptor, nuclear pore complexes (NPCs) and by the presence of fenestrations. Strikingly, Emerin was strongly enriched at exclusomes and overexpression of its LAP2, Emerin, MAN1 (LEM)-domain reduced cells with exclusomes. Together, cells wrap chromosomes and two types of extra-chromosomal DNA into similar yet distinct envelopes. Thereby, they distinguish, sort, cluster, package, and keep chromosomal and extra-chromosomal DNA apart in the nucleus and the exclusome, respectively. We suggest that while all DNA molecules are enveloped through virtually identical mechanisms, only chromosomes somehow promote NPC assembly to form a nuclear envelope. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

(00:31) Could you provide a little bit about yourself and your background? (02:04) Could you provide an overview of the chromosomal microarray assay? (05:49) Why should the chromosomal microarray assay be used over other available assays, such as FISH? (08:56) Does the chromosomal microarray provide good benefits in terms of gain of 7 and loss of 10, and EGFR amplification? (12:03) What's the value of utilizing the test alongside a neuro-specific NGS panel, such as Mayo Clinic Laboratories' NONCP panel? (17:20) How are the results used in patient care? (19:41)Is there anything else you feel it's important to highlight?

Eric Hovind's Creation Today delves into the science of our common ancestors -- the so-called Adam and Eve -- as traced back through our y-chromosomes and our mitochondrial DNA. Dr. Robert Carter guests to give us an estimate of when they lived... does it line up with the young-earth Biblical creation narrative?Using gene sequencing, one can begin to trace backwards to common male ancestors of populations and back far enough to an individual known as the “Y-chromosomal most recent common ancestor”. This individual is also informally called “Y-chromosomal Adam”, invoking the idea of the character Adam from the Bible, but that colloquialism leads to some unfortunate misconceptions.An interesting feature of mitochondria is that is has its own DNA, which is entirely separate from the DNA in the nucleus of cell. While that nuclear DNA is a combination of the mother and father, the mitochondrial DNA comes exclusively from the mother. Since there is no blending of mitochondrial DNA, any variations from mother to child can come from only one source – genetic mutations. As such, it's possible to track the matrilineal most common ancestor. Just like Y- chromosomal Adam, mitochondrial Eve would be the most recent common female ancestor, and would have been one of a larger population.Creation Today Season 5 Episode 6 - https://www.youtube.com/watch?v=pcuMIATlHGEFollow me athttp://www.twitter.com/paulogia0http://www.facebook.com/paulogia0Support the show

Coming in hot for this November month! Today we have with us Dr. Vaughn Cooper, professor and director of the Center for Evolutionary Biology and Medicine at the University of Pittsburgh. Tune in to learn about his deep love for evolution, his background at the Lenski lab, and his current work studying biofilms. For the news section, we first bring you Jenny's recent paper looking at the evolution of resistance to tigecycline and then move on to a UAC paper on the evolution of chromosomal hybrids which result in enlarged chromosomes. For a change, this time we also talk about vaccines, covering a surveillance study looking at the effect of pneumococcal vaccines and COVID-19 on AMR. We finish up the news by mentioning two big things released this month: a follow-up to the report on the global burden of AMR in 2019, this time with numbers on the WHO European Region, and a new WHO Fungal Priority Pathogen List. Buckle up, this episode covers a lot! Check relevant links in the show notes at www.uac.uu.se/the-amr-studio/episode43/. Follow our updates on Twitter on www.twitter.com/uac_uu with #theAMRstudio hashtag! Theme music by Henrik Niss: www.tinyurl.com/henriknissspotify.

Trigger warning: In this episode, our guest shares her journey with the loss of her unborn daughter. If you or someone you love has recently experienced a miscarriage or the tragic loss of a child, please feel free to skip this episode during your healing process. We have 80+ other powerful conversations to enjoy at www.warriorsunmasked.com  Welcome back to another episode of Warriors Unmasked! Today while Clint is out changing the world, Chuck sits down with author, mother, and woman of extraordinary faith, April Fore. April will take a deep dive into her journey from living a fun life as a nanny to finding out she was expecting a child of her own. It wasn't long after the exciting news that April found herself at the Doctors office for a routine checkup where she would learn her future daughter had Turner Syndrome. (A Chromosomal disorder in which a female is partially or completely missing an X chromosome)  This devastating diagnosis would ultimately result in the loss of her unborn daughter… However, the story does not end there. Through the power of prayer, her faith in God the creator, and the understanding that all things, even the deepest pain of losing a child could result in a beautiful testimony if she did not give up and stay in her pain and depression.  Hit play to hear the exact steps April took to turn her tragedy into a testimony, how you can help spread awareness of Turner Syndrome, practical ways to heal and build your faith and so much more! To learn more about April, and how her daughter's legacy is changing lives all over the world, or to connect with us follow the links below!    More Of What's Inside: How April managed her anger with God Finding the good in any situation The true power of prayer  Pain can have a beautiful purpose  We are all God's children  Turner Syndrome Awareness Letting others have their own healing journey A look into April's next book  Have faith even if it looks bad And much more!   GUEST LINKS: https://www.instagram.com/theeggstories http://facebook.com/theadventuresofegg What Is Turner Syndrome? - Turner Syndrome Foundation LINKS: malarchuk.com/book  malarchuk.com  www.thecompassionateconnection.com www.warriorsunmasked.com  Follow us on Instagram Like us on Facebook Subscribe To Our YouTube My Community Contact   Episode Minute By Minute: 0:02 A look into today's episode   1:28 Thank you to today's sponsors   2:24 Get to know April Fore 5:26 When April heard the diagnosis  12:23 The importance of staying active  21:00 Handling life after the loss of a  child  26:16 Overcoming depression and bad coping habits  33:00 We are all perfect just the way we are 37:33 How April learned to love after loss  44:55 The importance of feeling your feelings

References Mechanisms of Ageing and Development.2006. Volume 127, Issue 9, Pages 705-718 J Bioenerg Biomembr. 2015 April ; 47(1-2): 173–188 --- Send in a voice message: https://anchor.fm/dr-daniel-j-guerra/message

$5 Q-BANK: https://www.patreon.com/highyieldfamilymedicine Aneuploidy, Robertsonian translocation, mosaicism, prenatal screening, physical exam findings, Down's syndrome, Edward's syndrome, Patau syndrome, Klinefelter syndrome, Turner syndrome, Triple X syndrome, XYY syndrome, Cri Du Chat syndrome, Wolf-Hirschhorn syndrome, Jacobsen and Paris-Troussaeu syndromes, Charcot-Marie-Tooth syndrome, Prader-Willi and Angelman syndromes, trinucleotide repeat disorders, Fragile X syndrome, Huntington Disease, Myotonic dystrophy Type I, spinocerebellar ataxia, and Friedrich ataxia.

Dr. Shannon M. Clark discusses the following with genetic counselor, Liz Sheehan @agirlsnameisbizbiz: •what are fetal chromosomal aneuploidies •different types of antenatal screening tests •cell-free DNA screening •NT measurement plus serum screening in first trimester •quad screen in second trimester •screening PGT tested embryos •ultrasound soft markers: choroid plexus cysts, echogenic intracardiac focus, echogenic bowel, pylectasis, single umbilical artery --- Support this podcast: https://anchor.fm/adoctordeliverspodcast/support

Hello everyone in this episode I will be talking about living life with chromosomal abnormalities and how it affects me and so much more etc --- Send in a voice message: https://anchor.fm/wondergirlsaida/message

Professor Simon Fishel is the Founder, President, and Head of R&D at CARE Fertility in the UK. CARE is celebrating its 20th anniversary and apparently, a CARE baby is delivered every 4hours! Simon's early works were as Deputy Scientific Director of the world's first ‘test-tube baby clinic' at Bourn Hall, Cambridge, the first to demonstrate that embryos are capable of responding to their environment and communicating with the uterus and external factors. In our chat, we discuss what this means. Simon was also the first to show that the human embryo in vitro synthesizes and secretes the pregnancy hormone HCG (Science, 1984), and early in the 1990's he was the first to demonstrate conclusively the need to permanently immobilize the sperm tail for efficient and successful ICSI in humans, and during the late 1980s and early 1990's he pioneered human sperm microinjection. We discussed the efficiency of the endometrial scratch as well as eating pineapple post embryo transfer. Simon also gave his views on studies regarding Vitamin B3 and its impact on preventing miscarriage. One, in particular, was in Australia, where scientists identified a major cause of miscarriages and multiple birth defects that could change the way women prepare for pregnancy. Having low levels of a vital molecule called Nicotinamide Adenine Dinucleotide (NAD) damages embryos in the crucial first weeks of pregnancy when organs start forming, the scientists at Victor Chang Cardiac Research Institute have discovered. Simon has said - “While an intriguing and potentially important scientific study, which has been well conducted, it must be recognized that miscarriage has many causes.” In our chat, Simon discusses CARE's research which has shown a Male Marker for miscarriage and explained the blood test that could be carried out to determine whether a couple is carrying the marker. We also discussed the mental health aspect of failed fertility treatment and Simon gave his views on the postcode lottery in the UK, as well as how he feels IVF is looking in its 40th year of existence. It was interesting to hear him say " I have a great sadness that in the country that created IVF and made it available to the world that we still can't have a single unified policy" To follow Simon on Twitter visit I also referred to a previous episode I had released where I had covered the impact of fertility treatment on mental health, with blogger Strength and Infertility which you can visit here Don't forget to join my closed Facebook group Plus if you don't mind helping me out, a quick review on iTunes and clicking subscribe to this podcast would be AMAZING... just click here

Please see You Tube Video here for Chromosomal Mutations - NEET BIOLOGY For more free online class videos, you can visit our You Tube Channel here Teaching Care provides Online classes by best teachers; online tuition classes, online tutors and live 1-to-1 coaching classes for CBSE, ICSE, IGCSE, IB, state boards, NTSE, Olympiads, JEE and NEET. Best tutorials for English, Mathematics, Science, Physics, Chemistry, Biology, Coding Classes, Computer Science, Accountancy, Business Studies, Economics, Hindi, Engineering etc for class 4th to class 12th to UG & PG levels. Book free trial class at Teaching Care or Call +91-9811000616, +91-9821126195 or Sign Up here for free demo class or email us at hr@teachingcare.com --- Send in a voice message: https://anchor.fm/teachingcare/message

Please see You Tube Video here for Chromosomal Mutations - NEET BIOLOGY For more free online class videos, you can visit our You Tube Channel here Teaching Care provides Online classes by best teachers; online tuition classes, online tutors and live 1-to-1 coaching classes for CBSE, ICSE, IGCSE, IB, state boards, NTSE, Olympiads, JEE and NEET. Best tutorials for English, Mathematics, Science, Physics, Chemistry, Biology, Coding Classes, Computer Science, Accountancy, Business Studies, Economics, Hindi, Engineering etc for class 4th to class 12th to UG & PG levels. Book free trial class at Teaching Care or Call +91-9811000616, +91-9821126195 or Sign Up here for free demo class or email us at hr@teachingcare.com --- Send in a voice message: https://anchor.fm/teachingcare/message

Emily, a self-professed “Chemical Queen”, shares her fertility journey over the last four years, in which she has been pregnant seven times. Emily has a chromosome abnormality called "Robertsonian Translocation" of chromosomes 14 and 22 which puts her at higher risk of early miscarriage but following 4 chemical pregnancies she finally found a team who looked further. After putting her on a variety of medications to support her hormones around the start of her pregnancies, one stuck! Emily is trying again for number 2 and devastatingly, has had another 2 miscarriages. This story has all the feels.Episode notes:Bulk billed IVF clinic: https://www.adorafertility.com.au/Join me on Instagram: @wombroom.podcastIf you're enjoying the show please leave a review! Takes a mere few minutes and will help get these stories into more ears that really need them.You can listen to host Laksmi Wilson's story here:https://podcasts.apple.com/au/podcast/why-does-this-keep-happening-recurrent-miscarriages/id1484930949?i=1000528572349Support the show (https://www.patreon.com/wombroom)

Kelly is a mum of four.  She has two living children – Brooklyn and Jake, and two children who she had to say goodbye to within hours of them being born – Nina and Molly.Kelly learned in her early life that she was a carrier of a Chromosomal issue running in the family, passed down from her dad.  She is a carrier but when she has children they could either be totally fine, a carrier like her, or incompatible with life, ending in miscarriage, stillbirth or death shortly after birth.  A 50 % chance of her baby not surviving.Her first three attempts to have a baby ended in miscarriage but  after that she went on to have two healthy children.  They are both carriers too but healthy in themselves.After this, Kelly just didn't feel that he family was finished and she desired to have another baby.  So she and her husband tried again.They became pregnant but the CVS results at 14 weeks showed that this baby was affected and was incompatible with life.  They had to make decisions around terminating the baby or carrying to term.They chose to carry their baby to term and with the help of a supportive team she was born at 36 weeks, alive and with her eyes open.  She lived for 1 hour and 46 minutes.  Her name is Nina.After this experience of losing Nina the feelings of wanting to try for another child just wouldn't go away.  Her husband was not on board with her but in the end they did try again and Kelly became pregnant again and the CVS results showed that this baby also was not compatible with life.They gave this baby what they gave Nina.  Kelly carried her to term in the hopes of also meeting her alive.  She was born alive at 36 weeks and lived for 1 hour and 30 minutes.  Her name is Molly.Kelly shares with us the isolation, the grief and the heartache she and her family have been through but also how they are doing well now and she finally feels herself again.Connect with Kelly: Instagram -https://www.instagram.com/thegriefdebrief/Blog - https://eitsirhc.wixsite.com/bestillandknowkcConnect with Janine:Instagram - https://www.instagram.com/waitingforyou.podcast/Janine's photography instagram - https://www.instagram.com/janinefoxphotography/Share your story on the podcast - https://www.janinefoxphotography.co.nz/podcastMusic written and recorded by Alan Meharry and Stu Fox

Evaluation and Credit:  https://www.surveymonkey.com/r/MedChat32   Target Audience             This activity is targeted toward primary care and oncology specialties.   Statement of Need According the National Human Genome Research Institute, genomic factors play a role in nine of the ten leading causes of death in the U.S.; e.g. heart disease, cancer and diabetes.  If providers have a better understanding of genomic testing and applications, it can result in earlier diagnosis, interventions and targeted treatments for specific diseases, improving overall patient outcomes.   Objectives At the conclusion of this offering, the participant will be able to: Differentiate between genetic and genomic testing. Describe the essentials of genomic testing. Define key applications in clinical medicine where genomic testing is utilized: constitutional, oncology and microbiological.   Moderator Steve Patton, D.O. Family Medicine Norton Community Medical Associates   Speaker Charles Myers, D.O.   Clinical and Laboratory Pathology Norton Medical Group   Moderator and Planner Disclosures  The moderator, speakers and planners for this activity have no relevant relationships to disclose.   Commercial Support  There was no commercial support for this activity.     Physician Credits American Medical Association   Accreditation Norton Healthcare is accredited by the Kentucky Medical Association to provide continuing medical education for physicians.   Designation Norton Healthcare designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.   Resources for Additional Study  Candida auris: Diagnostic Challenges and Emerging Opportunities for the Clinical Microbiology Laboratory https://pubmed.ncbi.nlm.nih.gov/34178208/   Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) https://pubmed.ncbi.nlm.nih.gov/34131312/     Norton Healthcare, a not for profit health care system, is a leader in serving adult and pediatric patients throughout Greater Louisville, Southern Indiana, the commonwealth of Kentucky and beyond.. Five Louisville hospitals provide inpatient and outpatient general care as well as specialty care including heart, neuroscience, cancer, orthopedic, women's and pediatric services. A strong research program provides access to clinical trials in a multitude of areas. More information about Norton Healthcare is available at NortonHealthcare.com.     Date of Original Release |October 2021 Course Termination Date | October 2023 Contact Information | Center for Continuing Medical, Provider and Nursing Education; (502) 446-5955 or cme@nortonhealthcare.org  

Welcome to My AP Biology Thoughts podcast, my name is Stefanie Ribecca and I am your host for episode # 104 called Unit 5 Heredity: Chromosomal Inheritance. Today we will be discussing how inheritance occurs in the chromosomal level.  Segment 1: Introduction to Chromosomal InheritanceChromosomal inheritance is an extension of Mendelian genetics.  Chromosomes contain DNA which carry the genetic information that code for proteins.  Chromosomes are found in pairs, and increase genetic variation during meiosis. Segment 2: More About Chromosomal InheritanceDuring meiosis, non sister chromatids in homologous pairs exchange information during crossing over. Certain genes may be close together on the chromosome and may appear to be inherited together.  Segment 3: Connection to the CourseChromosomal inheritance allows for a combination of traits from both parents.  Genetic diversity from chromosomal inheritance allows individuals in a population to adapt to the environment.    Thank you for listening to this episode of My AP Biology Thoughts.   For more student-ran podcasts and digital content, make sure that you visit http://www.hvspn.com (www.hvspn.com).   Music Credits:"Ice Flow" Kevin MacLeod (incompetech.com) Licensed under Creative Commons: By Attribution 4.0 License http://creativecommons.org/licenses/by/4.0/ Subscribe to our Podcasthttps://podcasts.apple.com/us/podcast/my-ap-biology-thoughts/id1549942575 (Apple Podcasts) https://open.spotify.com/show/1nH8Ft9c9f6dmo75V9imCk (Spotify) https://podcasts.google.com/search/my%20ap%20biology%20thoughts (Google Podcasts )   https://www.youtube.com/channel/UC07e_nBHLyc_nyvjF6z-DVg (YouTube)   Connect with us on Social MediaTwitterhttps://twitter.com/thehvspn ( )https://twitter.com/thehvspn (@thehvspn)

Research and articles, I've attached to my Twitter page, regarding chromosomes 11 and 3 in relation to alcoholism, depression and suicidality. Possibly relates to successive bubonic plagues in 1625 and 1665. --- Send in a voice message: https://anchor.fm/benjamin-allen-belzer/message Support this podcast: https://anchor.fm/benjamin-allen-belzer/support

In this episode, we review the high-yield topic of Chromosomal Diseases from the Biochemistry section. --- Send in a voice message: https://anchor.fm/medbulletsstep1/message

This episode covers chromosomal translocations!

Compare the causes, processes and effects of different types of mutation, including but not limited to: -       point mutation -       chromosomal mutation Distinguish between somatic mutations and germ-line mutations and their effect on an organism. Thanks to STEM Reactor for sponsoring this podcast. They provide everything you need to do biotechnology at school, check them out at www.stemreactor.com.au

Practice Bulletins #226 - Published October 2020 1. Cell-free DNA screening has the best sensitivity and specificity of all screening methods. But before you order it, it's best to get a prenatal ultrasound 2. Best non-cell-free screening modality is the sequential integrated serum screen (1st-tri serum + NT ultrasound + 2nd-tri serum) 3. Formal anatomy survey should be offered at 18 - 22 wga; can identify soft markers for T21 and T18 4. Prenatal genetic screening should be offered to all pregnant women regardless of risk profile 5. Anything that doesn't add up, it's best to just refer to a genetics counselor or even your friendly MFM for clarification. Show Notes Wine pairing: 2017 Garnacha from Las Rocas Theme music by Evan Handyside Logo design by JD Dotson (jddotson1@gmail.com)

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.11.20.390930v1?rss=1 Authors: Das Roy, R., Hallikas, O., Christensen, M. M., Renvoise, E., Jernvall, J. Abstract: Exploration of genetically modified organisms, developmental processes, diseases or responses to various treatments require accurate measurement of changes in gene expression. This can be done for thousands of genes using high throughput technologies such as microarray and RNAseq. However, identification of differentially expressed (DE) genes poses technical challenges due to limited sample size, few replicates, or simply very small changes in expression levels. Consequently, several methods have been developed to determine DE genes, such as Limma, RankProd, SAM, and DeSeq2. These methods identify DE genes based on the expression levels alone. As genomic co-localization of genes is generally not linked to co-expression, we deduced that DE genes could be detected with the help of genes from chromosomal neighbourhood. Here, we present a new method, DELocal, which identifies DE genes by comparing their expression changes to changes in adjacent genes in their chromosomal regions. Our results show that DELocal provides distinct benefits in the identification of DE genes. Furthermore, our comparative analysis of the dispersal of genes with related functions suggests that DELocal is applicable to a wide range of developmental systems. With increasing availability of genomic data, gene neighbourhood can become a powerful tool to detect differential expression. Copy rights belong to original authors. Visit the link for more info

  In this week’s episode I chat to Nadia about her three births including her most recent; a maternal-assisted cesarean. Nadia’s first son, a boy named Pio, was diagnosed with a rare chromosomal abnormality and was born via cesarean at 20weeks. She discusses her disbelief at the diagnosis and the subsequent grief of her loss followed by the healing arrival of her rainbow baby, Riviera.    Nadia found her mothering groove when Riviera was six-months-old so the last thing she expected was to fall pregnant again. Her second daughter, Florencia, was born in the middle of Melbourne’s Covid lockdown but despite restrictions, she was delighted to have the opportunity to experience a natural cesarean and admits that the bond and connection was instant.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.10.06.328039v1?rss=1 Authors: Prost, J. A., Cameron, C. J., Blanchette, M. Abstract: Genomic organization is critical for proper gene regulation and based on a hierarchical model, where chromosomes are segmented into megabase-sized, cell-type-specific transcriptionally active (A) and inactive (B) compartments. Here, we describe SACSANN, a machine learning pipeline consisting of stacked artificial neural networks that predicts compartment annotation solely from genomic sequence-based features such as predicted transcription factor binding sites and transposable elements. SACSANN provides accurate and cell-type specific compartment predictions, while identifying key genomic sequence determinants that associate with A/B compartments. Models are shown to be largely transferable across analogous human and mouse cell types. By enabling the study of chromosome compartmentalization in species for which no Hi-C data is available, SACSANN paves the way toward the study of 3D genome evolution. SACSANN is publicly available on GitHub: https://github.com/BlanchetteLab/SACSANN Copy rights belong to original authors. Visit the link for more info

Chromosomal abnormalities are often incompatible with life. However, there are a few exceptions to this rule and history has shown us that certain paired chromosomes can include a third. These conditions are known today as Down syndrome (Trisomy 21), Edwards' syndrome (Trisomy 18) and Patau syndrome (Trisomy 13). These syndromes are routinely screen for in pregnancy with NIPT (Non-Invasive Prenatal Testing). This podcast includes an interview discussing the application of NIPT with Professor Graeme Suthers and the path ahead for foetal screening and this section of the podcast is eligible for 1 RACGP CPD point – self reporting. Professor Graeme Suthers BSc (Med), MBBS, PhD, FRACP, FRCPA, GAICD clinpath.com.au/about-us/clinpath-leadership/our-pathologists/professor-graeme-suthers/ This Pathological Life is produced by Clinpath Pathology in South Australia. See omnystudio.com/listener for privacy information.

** Thanks for downloading this episode. If you'd like to stay in touch with our continuing story, Season 2 continues at This Medical Life, in which Dr Travis Brown continues his exploration of diseases and our approaches to treatment from history to the modern day. Have a look in your podcast app now for This Medical Life, and hit subscribe so you never miss an episode ** Chromosomal abnormalities are often incompatible with life. However, there are a few exceptions to this rule and history has shown us that certain paired chromosomes can include a third. These conditions are known today as Down syndrome (Trisomy 21), Edwards' syndrome (Trisomy 18) and Patau syndrome (Trisomy 13). These syndromes are routinely screen for in pregnancy with NIPT (Non-Invasive Prenatal Testing). This podcast includes an interview discussing the application of NIPT with Professor Graeme Suthers and the path ahead for foetal screening and this section of the podcast is eligible for 1 RACGP CPD point – self reporting. Professor Graeme SuthersBSc (Med), MBBS, PhD, FRACP, FRCPA, GAICDclinpath.com.au/about-us/clinpath-leadership/our-pathologists/professor-graeme-suthers/ This Pathological Life is produced by Clinpath Pathology in South Australia.See omnystudio.com/listener for privacy information.

Today’s episode will inspire you yet again! I chat to Natalie Masson, a woman like you and I who struggled to get pregnant, and against the odds of being 45, with low AMH and high FSH and much more, managed to get pregnant naturally and now has a beautiful family she has always wished for. Natalie doesn’t have Endometriosis, but she does have an awful lot to share from her experience and is why she then went on to focus on helping women with their fertility struggles. Dr Natalie Masson, PhD is a Psychotherapist & Fertility Coach, and founder of Fertility from the Soul, which is a resource for women who are longing for a child, struggling to conceive, and are interested in exploring natural ways to boost fertility. Natalie draws from the experience of many philosophies and healing modalities from both the East and the West to provide coaching, meditations, affirmations, guidance, and resources for improving fertility naturally from a holistic mind-body perspective. Natalie is based in the USA but works with women all over the world. We had a great conversation and talked about: Natalie’s background as an engineer and psychotherapist Natalie’s fertility journey against all the odds including two devastating miscarriages Cognitive behavioural therapy and mind-body awareness Learning to listen to our bodies through awareness Affirmations when you find yourself obsessing about your cycle Chromosomal abnormalities and improving egg quality Nourishment other than nutrition such as emotional help, spirituality and relationships How scientific evidence is lagging anecdotal evidence infertility Benefits of taking 3 months out to improve egg quality Understanding your energy losses and gains Natalie read some example affirmations Meditations and guided imagery Resources Mentioned: Week by Week Fertility Affirmations: https://www.youtube.com/playlist?list=PLcK63CNsBaOx9oX_FpAEFQx2RQ5DcO2hA Affirmations for Improving Egg Quality and Cultivating Optimal Fertility: https://www.youtube.com/watch?v=wwfRo6c34fY&t=576s Meditations and Guided Imagery: https://www.youtube.com/playlist?list=PLcK63CNsBaOw96kjnfkomAhfGSII0C4PQ Connect with Dr Natalie Masson at: Website: http://www.fertilityfromthesoul.com Facebook: https://www.facebook.com/fertilityfromthesoul You Tube Channel: https://www.youtube.com/channel/UCrJynvX1U5wM2BgSC9csVsA Email: info@fertilityfromthesoul.com Further EndoFertility links and resources: Join my Endo Fertility community! Find us in the Thrive and Conceive with Endometriosis Facebook Group. The Endo Fertility Specialist website: https://www.endofertilityspecialist.com Follow me on Instagram (@endofertilityspecialist) and Facebook (@endofertilityspecialist) Intro/Outro Music Credits: Optimistic Future This episode is sponsored by the Endo Fertility Resource Library where you can get your 3 amazing freebies: E-Book: 5 Things I Learnt to Drop My Pain & Optimise My Fertility, Your Guide to Super Sperm, and 88 Ways I Dropped My Pain and Got Pregnant. Make sure you hit SUBSCRIBE so you don’t miss out on any future episodes – which will be out weekly on Wednesdays! And, if you enjoyed this episode, please leave me a rating and a review, it will help it reach many more that need help on their Endometriosis and fertility journeys. Thank you! If you want to be on the podcast or have feedback please email: info@endofertilityspecialist.com This podcast is for educational purposes only. The host claims no responsibility to any person or entity for any liability, loss or damage caused or alleged to be caused directly or indirectly as a result of the use, application, or interpretation of the information presented herein.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.08.24.264747v1?rss=1 Authors: Iakovlev, M., Faravelli, S., Becskei, A. Abstract: Exclusive stochastic gene choice combines precision with diversity. This regulation enables most T-cells to express exactly one T-cell receptor isoform chosen from a large repertoire, and to react precisely against diverse antigens. Some cells express two receptor isoforms, revealing the stochastic nature of this process. A similar regulation of odorant receptors and protocadherins enable cells to recognize odors and confer individuality to cells in neuronal interaction networks, respectively. We explored whether genes in other families are expressed exclusively by analyzing single cell RNA-seq data with a simple metric. Chromosomal segments and families are more likely to express genes concurrently than exclusively, possibly due to the evolutionary and biophysical aspects of shared regulation. Nonetheless, gene families with exclusive gene choice were detected in multiple cell types, most of them are membrane proteins involved in ion transport and cell adhesion, suggesting the coordination of these two functions. Thus, stochastic exclusive expression extends beyond the prototypical families, permitting precision in gene choice to be combined with the diversity of intercellular interactions. Copy rights belong to original authors. Visit the link for more info

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.08.21.262121v1?rss=1 Authors: Gerak, C. A. N., Cho, S. Y., Kolesnikov, M., Okon, M., Murphy, M. E. P., Sessions, R. B., Roberge, M., McIntosh, L. P. Abstract: ETV6 is an ETS family transcriptional repressor that self-associates by its PNT domain to facilitate cooperative DNA binding. Chromosomal translocations frequently generate constitutively active oncoproteins with the ETV6 PNT domain fused to the kinase domain of one of many protein tyrosine kinases. Although an attractive target for therapeutic intervention, the propensity of the ETV6 PNT domain to polymerize via the tight head-to-tail association of two relatively flat interfaces makes it challenging to identify suitable small molecule inhibitors of this protein-protein interaction. Herein we provide a comprehensive biophysical characterization of the ETV6 PNT domain interaction interfaces to aid future drug discovery efforts and help define the mechanisms by which its self-association mediates transcriptional repression. Using NMR spectroscopy, X-ray crystallography, and molecular dynamics simulations, we demonstrate that ETV6 PNT domain variants with monomerizing mutations adopt very stable helical bundle folds that do not change in conformation upon self-association. Amide hydrogen exchange and surface plasmon resonance-monitored alanine scanning mutagenesis studies identified hot spot regions within the self-association interfaces. These regions include both central hydrophobic residues and flanking salt-bridging residues. Collectively, these studies indicate that small molecules targeted to these hydrophobic or charged regions within the relatively rigid interfaces could potentially serve as orthosteric inhibitors of ETV6 PNT domain polymerization. Copy rights belong to original authors. Visit the link for more info

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.08.20.258525v1?rss=1 Authors: Gerak, C. A. N., Zhang, S. M., Balgi, A. D., Sadowski, I. J., Sessions, R. B., McIntosh, L. P., Roberge, M. Abstract: ETV6 is an ETS family transcriptional repressor for which head-to-tail polymerization of its PNT domain facilitates cooperative binding to DNA by its ETS domain. Chromosomal translocations frequently fuse the ETV6 PNT domain to one of several protein tyrosine kinases. The resulting chimeric oncoproteins undergo ligand-independent self-association, autophosphorylation, and aberrant stimulation of downstream signaling pathways leading to a variety of cancers. Currently, no small molecules inhibitors of ETV6 PNT domain polymerization are known and no assays targeting PNT domain polymerization have been described. In this study, we developed complementary experimental and computational approaches for identifying such inhibitory compounds. One mammalian cellular approach utilized a mutant PNT domain heterodimer system covalently attached to split Gaussia luciferase fragments. In this protein fragment complementation assay, inhibition of PNT domain heterodimerization reduces luminescence. A yeast assay took advantage of activation of the reporter HIS3 gene upon heterodimerization of mutant PNT domains fused to DNA-binding and transactivation domains. In this two-hybrid screen, inhibition of PNT domain heterodimerization prevents cell growth in medium lacking histidine. The Bristol University Docking Engine (BUDE) was used to identify virtual ligands from the ZINC8 library predicted to bind the PNT domain polymerization interfaces. Over 75 hits from these three assays were tested by NMR spectroscopy for binding to the purified ETV6 PNT domain. Although none were found to bind, lessons learned from this study may facilitate future approaches for developing therapeutics that act against ETV6 oncoproteins by disrupting PNT domain polymerization. Copy rights belong to original authors. Visit the link for more info

Sexual reproduction increases genetic diversity in Episode 37. Chromosomes are tightly coiled DNA (1:00) and organized in homologous pairs (1:45). The three primary sources of variation within the population are chromosome segregation, independent assortment, and random fertilization (2:15). Do you remember Mendel’s laws? Some chromosomal errors cause genetic disorders (3:20). We can use pedigrees to find patterns in genetic traits (4:20).The Question of the Day asks (5:42) “During what phase of meiosis does crossing over occur? ”Thank you for listening to The APsolute RecAP: Biology Edition!(AP is a registered trademark of the College Board and is not affiliated with The APsolute RecAP. Copyright 2020 - The APsolute RecAP, LLC. All rights reserved.)Website:www.theapsoluterecap.comEMAIL:TheAPsoluteRecAP@gmail.comFollow Us:INSTAGRAMTWITTER

Welcome to another episode of The Hormone Heartbeat Podcast! Today's episode in my fertility series is about miscarriage and understanding what hormonal condition can put you at an increased risk of miscarriage, and what labs you should consider asking your fertility doctor for if you have experienced one or multiple miscarriages. My guest today Dr. Anna D'intino shares her personal experience with miscarriage and how she works with couples on their fertility journey. Dr. Anna D'Intino is a Naturopathic Doctor practicing in Nova Scotia who helps women feel better by optimizing their hormones, supporting them through hormonal challenges and changes and helping them on their fertility journeys. Anna believes that when we are feeling our best, we can achieve anything we want, and she works with her patients to remove their obstacles to health. In today's episode: Introduction from Dr. Anna and her personal experience with miscarriage Language around having a miscarriage and how to talk to love ones Understanding the frequency of miscarriage Defining the different types of miscarriage like chemical pregnancy, spontaneous abortion, blighted ovum The pain of having a miscarriage (in comparison to birth) Explaining the various causes of miscarriage Chromosomal abnormality and miscarriage Predisposing conditions that increase your risk of miscarriage Autoimmune diseases and increased risk Paternal health and its correlation to miscarriage risk Causes of uterine abnormalities Luteal Phase Defect and what to look for in your chart Recommends for staying positive after experiencing 1 miscarriage What to do after you had your first miscarriage What does a fertility workup post-miscarriage look like Top 3 general fertility tips that all couples could benefit from *******Free Gift for Listeners: Guide on How to Support your Fertility Everyday!******* Connect with Guest: Dr. Anna D'intino, ND: Website: www.annadintino.com | Facebook: Dr. Anna D'Intino, ND | Instagram: @annadintino Connect with host: Dr. Antoinette Falco, ND Download your copy of Antoinette's Post-pill Guidebook. Website: www.antoinettefalco.com. Instagram: @drantoinettefalco Please send all inquiries and suggestions, including topics you'd like to see covered on the podcast to thehormoneheartbeatpodcast@gmail.com If you'd like to be a guest on the show and you think you'd be a good fit, please reach out!

Join Matt Hurttado and myself for part 1 of 2 Pathology Review. The following review will be pertaining to the material covered for our 2nd Lecture Exam, which is as follows;Genetic and Chromosomal Disorders- Trisomy 21 (Down Syndrome)- KlineFelter's Syndrome- Turner Syndrome - Autosomal Dominant Vs. Recessive - Sickle Cell Disease Vs. Sickle Cell Trait- Glycogen Vs. Lysosomal Storage Disorders- X-Linked DisordersImmune Disorders- I-IV Hypersensitivity Reactions ( A-llergy C-ytotoxic I-mmune complex D-elayed)- MHC Classes- Heat Shock Proteins- Human Leukocyte Antigen- Crest Syndrome (C-alcinosis Cutis R-aynauds E-sophageal dysmolity S-clerodactyly T-elangiectesia)- Four Phases of Acquired Immunodeficiency Syndrome (AIDS)Reference: Pathology Review (3rd Edition) JR LaRose (For educational/entertainment purposes only, NOT medical advice.)

Cam bravely shares about a chromosomal disorder she was born with that causes female infertility, called Turner Syndrome.  This podcast episode is special for two reasons, Cam is the youngest guest to be on the podcast so far. As a member of Gen Z, she is proactively researching her options to grow a family long before she is ready to start one. Interviewing Cam made me realize how much our dialogue around infertility has change over the past decade and how proud I am to be part of this ongoing campaign. Cam was 8 years-old when I started doing this work. That fact and my looming birthday (tomorrow) are making me feel old. More importantly, I'm super proud that conversations like this continue to make a difference for others. Don’t miss Episode 18 of Three Makes Baby Podcast, available on all the podcast platforms.