Najlepsze podcasty z kategorii: Association For Diagnostics And Laboratory Medicine (2024)

0:00 Introduction 1:30 The power of social media: How Eric published 10 papers based on ideas that he discussed on Twitter 5:50 Explanation of The Table of Everything, an internal database at Pfizer that catalogs nearly 20,000 human genes and their associated diseases and traits 13:20 How Eric’s team works to correlate genome-wide association study…

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Niacin and Risk of Cardiovascular Events: Deciphering the Paradox 13:09

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7d ago13:09

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Autor: Ravinder Sodi

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EP 159: Engineering macrophages to tackle rare disease with Noam Baumatz of Noga Therapeutics 44:17

3h ago44:17

44:17

0:00 Intro to The Genetics Podcast 01:00 Welcome to Noam and discussion of his motivation to drive rare disease forward 03:00 Noam’s daughter Noga’s experience of rare disease, including an 8 to 12 month journey to diagnosis 05:10 How the experience of his daughter receiving a genetic diagnosis motivated Noam to take change into his own hands 10:12…

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The story of the fight for laboratory developed tests | Episode 27 21:50

10d ago21:50

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The Food and Drug Administration’s final laboratory developed tests rule will have dire consequences for vulnerable patient populations such as newborns. Laborastories host Dr. Anthony Killeen sits down with Dr. Dennis Dietzen to discuss the nitty gritty details of why the rule will impede patient care — and what the Association for Diagnostics & L…

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EP 158: Research Roundup with Dr Veera: Discoveries in neurogenetics, evolution, cardiac arrhythmias, and more! 1:11:31

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0:00 Invitation to The Genetics Podcast meetup 1:30 Intro to The Genetics Podcast 2:30 Welcome to Veera 3:20 The evolution on skin color in humans and their ancestors: Discussion on how a retrotransposon—often called a "jumping gene"—within the ASIP gene (agouti signaling protein) influenced the evolution of skin pigmentation in humans and their an…

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Audio Summary November 2024 4:55

22d ago4:55

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Approval of the First CRISPR-Cas9 Gene Editing Therapy for Sickle Cell Disease 5:55

22d ago5:55

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Autor: Sean T Campbell

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Personalized Reproductive Hormone Monitoring in Sweat 13:59

22d ago13:59

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Autor: Robert D Maynard

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EP 157: Bridging genomics, business, and equity in healthcare access with Mark Taylor of LGC Group 35:40

16d ago35:40

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0:00 Invitation to The Genetics Podcast meet up 1:30 Intro to The Genetics Podcast 2:25 Welcome to Mark 3:10 Introduction to the National Institute for Health Research (NIHR) 4:05 Mark’s roles with the NIHR in strategic partnerships 7:35 Challenges patients face in accessing NHS resources and the NIHR’s efforts to streamline availability 13:25 How …

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EP 156: The Genetics Podcast In-Person Event! 1:32

22d ago1:32

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We hope you will join us at our first (of hopefully many!) in-person podcast event! Please use this link to sign up.Autor: Sano Genetics

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Reference Intervals Revisited: A Novel Model for Population-Based Reference Intervals, Using a Small Sample Size and Biological Variation Data 8:41

29d ago8:41

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Autor: Abdurrahman Coşkun

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EP 155: Adeno-associated virus as a delivery vector for genetic eye disease treatment, with Paul Wille of Abeona Therapeutics 32:18

23d ago32:18

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0:00 Invitation to our first in-person podcast event 1:30 Intro to The Genetics Podcast 2:20 Welcome to Paul 2:53 Adeno-associated virus (AAV) biology and its advantages over other viral vectors 5:20 The gene therapy landscape and options for therapy development and delivery 6:49 The limitations of working with AAV to deliver gene therapy, includin…

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EP 154: Pioneering early disease detection through wearable devices and regular monitoring with Dr. Mike Snyder 41:03

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0:00 Introduction 1:00 Overview of Mike’s background and contributions to genomics and preventative medicine, as well as how he first became interested in deep data collection for health monitoring 4:20 The use of various tools, including smartwatches, blood tests, genetic testing, and more, to create a comprehensive view of an individual’s health …

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The lipid testing guidance story | Episode 26 15:39

1M ago15:39

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Lipid testing is integral to diagnosing and managing cardiovascular disease, but approaches to lipid testing vary widely around the globe, which can lead to patients not getting the care they need. In this episode, Laborastories host Dr. Anthony Killeen talks with Dr. Leslie Donato about the Academy of Diagnostics & Laboratory Medicine’s new guidan…

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Beyond the Screen: Navigating Remote Work within Medicine 8:31

1M ago8:31

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Autor: Sarah Hackenmueller and Laura Parnas

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EP 153: How genomics is re-writing the taxonomy of disease with Lon Cardon, President and CEO of The Jackson Laboratory 40:25

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0:00 Intro to The Genetics Podcast 01:00 Welcome to Lon 01:51 Lon’s involvement in the very first GWAS and what drew him to large-scale genomics research 03:32 Was moving away from candidate genes towards GWAS and data sharing initially a controversial idea? 05:25 What Lon believes has driven collaboration and data sharing within research communiti…

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EP 152: Unlocking the secrets of gene regulation with Nadav Ahituv, Director of the Institute of Human Genetics at UCSF 42:40

1M ago42:40

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01:15 - Introductions 02:02 - How our understanding of the non-coding genome has evolved throughout Nadav’s career 04:56 - Our current understanding of non-coding genome grammar 07:40 - Is there a missing piece to the common variant, common disease paradigm? 10:25 - Introducing ultraconserved elements (UCEs) and human accelerated regions (HARs) 12:…

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Audio Summary October 2024 5:01

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EP 151: Understanding cell ageing and its role in disease with Marco Quarta Co-founder and CEO of Rubedo Life Sciences 42:36

2M ago42:36

42:36

0:00 Intro to The Genetics Podcast 01:00 Welcome to Marco 02:00 The areas Marco focused on during his academic career and what motivated him to found his first company 03:18 How our understanding of ageing has changed over the past two decades and some of the current big questions in ageing biology 06:01 How to get a clearer picture of the ageing p…

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EP 150: Cracking the biological code of aging with Martin Borch Jensen, Co-Founder and Chief Scientific Officer at Gordian Biotechnology 44:21

2M ago44:21

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0:00 Intro to The Genetics Podcast 01:00 Welcome to Martin 01:35 How a particularly large Indian meal resulted in a book about intermittent fasting and the biology of ageing 05:10 The biological mechanisms behind intermittent fasting, and whether it’s been established to extend life expectancy in humans. 10:13 What we know (and what we don’t) about…

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ChatGPT vs Medical Professional: Analyzing Responses to Laboratory Medicine Questions on Social Media 16:12

2M ago16:12

16:12

Autor: Min Yu

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Congenital Syphilis: An Emerging, Preventable Public Health Crisis 12:03

2M ago12:03

12:03

Autor: Kayode Balogun

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The Era of Early Detection and Treatment of Brain Amyloid Deposition in Asymptomatic Individuals? 16:32

2M ago16:32

16:32

Autor: Danni Li and William Mantyh

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EP 149: Sequencing 33 million samples to support the UK’s COVID-19 response with Tony Cox, CEO of UK Biocentre 34:16

2M ago34:16

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0:00 Intro to The Genetics Podcast 01:00 Welcome to Tony 02:00 What Tony was expecting going into the role of CEO at UK Biocentre, and how the COVID-19 pandemic changed his plans 03:38 Receiving a phone call from the UK government in March 2020 asking the UK Biocentre to stop all of its projects and focus on sequencing COVID-19 samples 05:12 The UK…

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The story of furthering ADLM’s mission | Episode 25 14:50

2M ago14:50

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In this episode, Dr. Octavia Peck Palmer talks with Dr. Anthony Killeen, the incoming 2024-2025 president of the Association for Diagnostics & Laboratory Medicine (formerly AACC). They reflect on Dr. Peck Palmer's achievements during her presidential year and explore Dr. Killeen’s goals as he prepares to lead the organization under its new strategi…

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EP 148: Advancing veteran health through the Million Veteran Program with Dr. Mike Gaziano, professor of medicine at Harvard Medical School 35:13

3M ago35:13

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0:00 Intro 2:00 Mike’s career prior to the Million Veteran Program (MVP), how Mike got to work on MVP, and important milestones in the project's evolution 8:30 Future goals for the Million Veteran Program in expanding and diversifying the research cohort 11:00 The roles of various omics in advancing the project's development 14:30 The most meaningf…

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Audio Summary September 2024 5:23

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EP 147: From research to delivering precision medicine in the clinic with Scott Weiss, Professor of Medicine at Harvard University 37:19

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0:00 Intro to The Genetics Podcast 01:00 Welcome to Scott 01:55 Scott’s career highlights to date, ranging from epidemiology to the genetics of asthma and chronic obstructive pulmonary disease (COPD) 04:56 How and why Scott decided to transition into genetics 06:30 The advances in our understanding of the genetics of asthma and COPD over the past 2…

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Clinical Laboratories Confront a New Wave of Drug Overdose Deaths 9:26

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Autor: Adina Badea

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EP 146: The biology of aging with Austin Argentieri, Research Fellow at Harvard Medical School, Affiliate Member of the Broad Institute, and Research Fellow at Massachusetts General Hospital 43:05

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0:00 Intro to The Genetics Podcast 01:00 Welcome to Austin 01:42 What is aging and how should we think about it? 03:50 Discussion of Austin’s recent breakthrough paper on aging, including the questions he set out to answer, and the outcomes of the research 06:32 How Austin’s work focuses on using large-scale population proteomics data to create acc…

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EP 145: Navigating rare disease drug development regulations with Daniel O’Connor 39:12

3M ago39:12

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0:00 Intro to The Genetics Podcast 01:00 Welcome to Daniel 02:04 Defining rare disease in the age of personalized medicine 04:57 Key touchpoints with the Medicines and Healthcare products Regulatory Agency (MHRA) when developing a new medicine 09:27 Improvements over the course of Daniel’s career when it comes to incentivizing and making the path t…

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EP 144: Research Roundup with Dr. Veera: breakthroughs in developmental disorders, Parkinson's, SLE, and Alzheimer's 56:48

4M ago56:48

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0:00 Introduction 1:40 A recurrent de novo mutation in a noncoding region of a small nucleolar RNA gene that has been identified as one of the most common causes of neurodevelopmental disorders This pathogenic variant escaped notice for years because it was not located in a protein coding region of the genome It now shows potential as a target for …

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Audio Summary August 2024 5:41

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EP 143: Harnessing human data in drug development with Jakob Steinfeldt, Co-Founder and Chief Scientific Officer at Pheiron 36:17

4M ago36:17

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0:00 Intro to The Genetics Podcast 01:00 Welcome to Jakob and background on Pheiron 02:14 What made Jakob decide to start Pheiron, what the company does, and how his scientific background inspired him to found a start-up 5:24 Jakob’s excitement and inspiration around the power and potential of machine learning 07:07 Cardiology and heart failure as …

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Osmotic Demyelination Syndrome in Hyponatremia: Does the Rate of Sodium Correction Matter? 12:07

4M ago12:07

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Autor: Supawadee Suppadungsuk

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Breaking Boundaries: Exploring Performance Enhancement and Anti-Doping Testing in Sports 12:51

4M ago12:51

12:51

Autor: Imir Metushi

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EP 142: From genome to bedside: How genetics is transforming modern medical practice with Dr. Andrea Gropman 42:45

4M ago42:45

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0:00 Introduction 1:40 Andrea’s background and how she got into the field of genetics, neuroimaging, and metabolic disorders 4:00 Insights into Andrea’s clinical practice, including the diverse families and patients she serves and her approach to clinical decision-making 6:30 How genetics and genomics have changed the diagnostic journey in the last…

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The ADLM 2024 story | Episode 24 16:32

4M ago16:32

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In 2023, we said goodbye to the AACC Annual Scientific Meeting, and this year, we say hello to the first ADLM Annual Meeting. With ADLM 2024 right around the corner, Laborastories host Dr. Octavia Peck Palmer sits down with Dr. Mark Marzinke, chair of this year’s Annual Meeting Organizing Committee, to chat about the meeting’s most exciting highlig…

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EP 141: Bringing genomics to the clinic with Lori Orlando, Associate Prof at Duke University 43:24

4M ago43:24

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0:00 Intro to The Genetics Podcast 01:00 Welcome to Lori Orlando 03:00 Lori’s career: From mathematical modelling to genetics and family history 05:11 The study that revealed 20% of the general population is at a higher risk of disease than average and needs preventative care 07:36 The first five diseases that Lori started analysing through informa…

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Use of Maternal Race and Weight Provides Equitable Performance in Serum Screening for Open Neural Tube Defects 9:35

4M ago9:35

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Autor: Glenn Palomaki

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EP 140: The future of Electronic Health Records and data analysis with Ben Goldacre 52:51

4M ago52:51

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0:00 Intro to The Genetics Podcast 1:00 Welcome to Ben Goldacre 02:22 Ben’s open data projects at the Bennett Institute and the challenges they aim to tackle 04:03 Using Electronic Health Records (EHR) to help the National Health Service improve care 06:18 The importance of software development within healthcare data and how to manage salary scales…

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The story of the FDA’s final laboratory developed tests rule | Episode 23 23:22

5M ago23:22

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Now that the Food and Drug Administration has dropped its final rule on laboratory developed tests, Laborastories host Dr. Octavia Peck Palmer sits down with Dr. Dennis Dietzen for an in-depth discussion on it. How could the rule harm vulnerable patients like infants? Why are the rule’s exemptions not all they’re cracked up to be? And what can labs…

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Audio Summary July 2024 5:42

5M ago5:42

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EP 139: Rare disease breakthroughs using tRNA with Michelle Werner, CEO of Alltrna and CEO-Partner of Flagship Pioneering 44:42

5M ago44:42

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0:00 Intro to The Genetics Podcast. 01:00 Welcome to Michelle. 02:00 Sstop codon diseases and how are they characterised 03:45 Diseases caused by premature stop codons in haploinsufficient genes. 04:35 The role of transfer RNA technology in finding solutions for premature stop codon diseases. 06:16 How Alltrna is engineering tRNAs which can bind to…

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Biological Insights from Cell-Free DNA Methylome Analysis in Preeclampsia 11:28

5M ago11:28

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Autor: Stephanie C Y Yu

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EP 138: Personalised medicine using microbiome models with Dr. Almut Heinken 40:22

5M ago40:22

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0:00 Introduction 1:45 Almut’s research experience, including two recent publications on genome-scale metabolic reconstruction human microorganisms Genome-scale metabolic reconstruction of 7,302 human microorganisms for personalized medicine APOLLO: A genome-scale metabolic reconstruction resource of 247,092 diverse human microbes spanning multiple…

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Partnering for sustainability | Episode 22 22:50

5M ago22:50

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The importance of sustainability has never been greater than it is today. Tune in to this episode of Laborastories, hosted by Guilherme Marques from Siemens Healthineers, for a thought-provoking discussion with experts Lisa Cratty and Paul Moss. Listen as they delve into innovative strategies, evolving challenges, and imperatives for improved susta…

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Microbiome-Based Diagnostics for Disease: Where Are We Now and Where Are We Headed? 16:52

5M ago16:52

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EP 137: Mavis Machirori on promoting equity, diversity, and social justice in genomics research 41:40

5M ago41:40

41:40

0:00 Intro 1:30 Mavis’ career arc, from starting as a midwife to researching medical innovation and technology with an emphasis on advocacy and equity 7:00 Systemic issues that are easily overlooked in medical research and advancements Webinar: Participant Diversity: Increasing the Impact of Biomedical Research Webinar 10:00 Addressing Eurocentrici…

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