최고 The Jackson Laboratory 팟캐스트 (2024)

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

2h 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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EP 158: Research Roundup with Dr Veera: Discoveries in neurogenetics, evolution, cardiac arrhythmias, and more! 1:11:31

9d ago1:11:31

1:11:31

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

15d ago35:40

35:40

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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An Interview With Dr. Suzanne Dintzis: The Human Side of Pathology’s Digital Transformation 41:45

19d ago41:45

41:45

Anatomic pathology is on the verge of its biggest technologic shift in over a century. Making a smooth transition will require leadership to pay as much attention to the human impact as to the technology itself. In this discussion, Dr. Suzanne Dintzis from the University of Washington explains why hospital and department leaders will need to partne…

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

22d ago1:32

1:32

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

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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

32:18

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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How companies can rebuild trust around data with Danny Weitzner 29:58

27d ago29:58

29:58

Founding Director of the MIT Internet Policy Research Initiative CSAIL Senior Research Scientist Daniel Weitzner says a lack of visibility about how personal data is being used is leading to an erosion of customer trust. However, companies increasingly need to leverage data for analytic advantage, generative AI applications, and more. His research …

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

1M ago41:03

41:03

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

1M ago40:25

40:25

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

42:40

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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Improving Diagnostics in Medicine 37:35

2M ago37:35

37:35

Paul Epner’s more than four-decade career started at Abbott Diagnostics and has involved collaboration with the CDC and a tenure as president of the Clinical Laboratory Management Association (CLMA). He now serves as CEO of the Society to Improve Diagnosis in Medicine (SIDM). Throughout his career, Epner has been a powerful advocate for the role of…

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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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Answering Your Questions About the FDA’s Final Rule on LDTs 43:54

2M ago43:54

43:54

As of September 2024, there remains enormous uncertainty about the FDA’s final rule on laboratory-developed tests (LDTs). Will it hold up in court? Which tests are subject to which requirements? How can laboratories best prepare? In this interview, Dr. Jonathan Genzen, ARUP’s chief medical officer and senior director of governmental affairs, respon…

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An Interview With Dr. Jonathan Genzen: Answering Your Questions About the FDA’s Final Rule on LDTs 43:54

2M ago43:54

43:54

As of September 2024, there remains enormous uncertainty about the FDA’s final rule on laboratory-developed tests (LDTs). Will it hold up in court? Which tests are subject to which requirements? How can laboratories best prepare? In this interview, Dr. Jonathan Genzen, ARUP’s chief medical officer and senior director of governmental affairs, respon…

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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

44:21

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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How AI can help with financial decision making with Professor Andrew Lo 36:23

2M ago36:23

36:23

Professor of Finance at the MIT Sloan School of Management and CSAIL Andrew Lo believes AI can help everyday consumers make important financial decisions by democratizing access to quality finance advice. His research aims to address the challenges of deploying AI in finance by, for example, answering questions around responsibility and engaging wi…

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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

34:16

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

2M ago35:13

35:13

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

3M ago37:19

37:19

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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An Interview With Dr. Vikas Saini: Creating a More Just, Effective, and Affordable Healthcare System 39:56

3M ago39:56

39:56

Fixing American healthcare will require more than mere tweaks around the edges. Dr. Vikas Saini, president of the Boston-based Lown Institute, believes that it will require a return to medicine’s humanist roots. In this interview he describes some of the ways in which many healthcare organizations prioritize revenue and profit over patients and com…

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Creating a More Just, Effective, and Affordable Healthcare System 39:56

3M ago39:56

39:56

Fixing American healthcare will require more than mere tweaks around the edges. Dr. Vikas Saini, president of the Boston-based Lown Institute, believes that it will require a return to medicine’s humanist roots. In this interview he describes some of the ways in which many healthcare organizations prioritize revenue and profit over patients and com…

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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

3M ago43:05

43:05

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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An Interview With Isak Schmidley: What ASCP's Youngest MLS Can Teach Us About Recruiting the Next Generation of Laboratory Scientists 21:48

3M ago21:48

21:48

Clinical laboratories offer great careers, but lack of awareness and other barriers can prevent excellent candidates from pursuing laboratory science professions. In this interview, Isak Schmidley, MLS(ASCP), explains how he first stumbled across medical laboratory science while attending community college in his early teens and then persevered pas…

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Hype vs. Reality: the Current State of AI with Arvind Narayanan 33:29

3M ago33:29

33:29

Princeton Professor Arvind Narayanan, author of "AI Snake Oil," sheds light on the stark contrast between the public perception and actual capabilities of AI. In this podcast, he explores the significant gap between the excitement surrounding AI and its current limitations. Find out more about CSAIL Alliances, as well as a full transcript of this p…

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

3M ago39:12

39:12

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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Understanding Generative AI with Stefanie Mueller 10:11

3M ago10:11

10:11

Associate Professor Stefanie Mueller, who leads the Human-Computer Interaction group at CSAIL, discusses her groundbreaking research using generative AI for 3D applications. Specifically she explains how generative AI can be combined with mechanical simulation to create stable and personalized 3D models. Find out more about CSAIL Alliances, as well…

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What ASCP's Youngest MLS Can Teach Us About Recruiting the Next Generation of Laboratory Scientists 21:48

3M ago21:48

21:48

Clinical laboratories offer great careers, but lack of awareness and other barriers can prevent excellent candidates from pursuing laboratory science professions. In this interview, Isak Schmidley, MLS(ASCP), explains how he first stumbled across medical laboratory science while attending community college in his early teens and then persevered pas…

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

3M ago56:48

56:48

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

4M ago36:17

36:17

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

4M ago42:45

42:45

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

4M ago43:24

43:24

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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An Interview With Dr. Brian Shirts: Preventing Hereditary Cancer Through Genealogy 34:39

4M ago34:39

34:39

Most hereditary cancers, including those associated with BRCA1 mutations and Lynch syndrome, can be prevented through a combination of genetic testing, surveillance, and surgery. Yet only a small minority of eligible individuals currently receive this lifesaving intervention. In this interview, Dr. Brian Shirts, director of the Institute for Public…

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Preventing Hereditary Cancer Through Genealogy 34:39

4M ago34:39

34:39

Most hereditary cancers, including those associated with BRCA1 mutations and Lynch syndrome, can be prevented through a combination of genetic testing, surveillance, and surgery. Yet only a small minority of eligible individuals currently receive this lifesaving intervention. In this interview, Dr. Brian Shirts, director of the Institute for Public…

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Reimagining Software Design with Daniel Jackson 37:48

4M ago37:48

37:48

MIT Professor Daniel Jackson, associate director of CSAIL and the author of The Essence of Software, argues that if your design is flawed, so is your product. In this podcast, Prof. Jackson shares some cases where software design makes or breaks big companies and what can be done to improve software design in the future. Find out more here: cap.csa…

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

4M ago52:51

52:51

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

5M ago44:42

44:42

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

5M ago40:22

40:22

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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Bringing Pharmacogenomics Into Mainstream Clinical Practice 39:53

5M ago39:53

39:53

Due to genetic variation, patients metabolize and respond to medications in vastly different ways, so why do most drug therapy regimens continue to be one-size-fits-all? In this interview, Dr. Yuan Ji, ARUP’s section chief of Molecular Genetics and Genomics, discusses how currently available genetic tests can be used to improve both the safety and …

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An Interview With Dr. Yuan Ji: Bringing Pharmacogenomics Into Mainstream Clinical Practice 39:53

5M ago39:53

39:53

Due to genetic variation, patients metabolize and respond to medications in vastly different ways, so why do most drug therapy regimens continue to be one-size-fits-all? In this interview, Dr. Yuan Ji, ARUP’s section chief of Molecular Genetics and Genomics, discusses how currently available genetic tests can be used to improve both the safety and …

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When is the right time to use AI in business? 29:21

5M ago29:21

29:21

This week on the CSAIL Alliances Podcast we’re joined by George Westerman, a Senior Lecturer at the MIT Sloan School of Management and Founder of the Global Opportunity Initiative. Westerman discusses the future of AI, the opportunities it presents, as well as some potential pitfalls. Find out more about CSAIL Alliances, as well as a full transcrip…

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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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EP 136: Developments in ring chromosome 20 research and advocacy with Allison Watson 40:57

5M ago40:57

40:57

0:00 Introduction 2:00 Allison’s personal journey to researching epilepsy and ring chromosome 20 syndrome 4:00 Biggest challenges families face with ring chromosome 20 syndrome 11:00 Incidence and prevalence of r(20) syndrome, and how we can improve data reliability 21:00 Applying next generation sequencing to r(20) syndrome gene research 29:00 Eng…

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“Generative AI: Is it copying or creating?” Special Crossover Episode from the Click Here Podcast 24:34

6M ago24:34

24:34

Today’s generative AI programs know how to write, compose music, and even create works of art. But it learned to do so by training on data made by human creators without asking their permission. As independent artists and giant media companies bring their cases to court, the question is: will all this fundamentally change the human-AI relationship?…

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EP 135: Integration of newborn sequencing programs into healthcare systems with Dr. Ingrid Holm 41:16

6M ago41:16

41:16

0:00 Introduction 1:30 Ingrid’s initial interests in genetics, paediatrics, and newborn screening 2:45 How the original BabySeq project, a pioneering newborn sequencing program got started, how it’s going, and the launch of BabySeq2 8:45 Lessons from BabySeq1 and goals for BabySeq2 10:30 Potential societal and long-term considerations for those inv…

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EP 134: Prenatal genetic testing and the future of AI in genetic counselling with Kira Dineen, host of DNA Today 40:44

6M ago40:44

40:44

0:00 Introduction 1:00 The backstory of how Kira first started DNA Today in 2012, when she was still in high school! 3:30 Some of Kira’s favourite topics she has discussed on DNA Today, including the legacy of Henrietta Lacks, and the story of a Glee actress with down syndrome 10:00 Kira’s best practices for podcasting, from over 10 years of experi…

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What's keeping two cybersecurity researchers up at night with Srini Devadas and Vinod Vaikuntanathan 24:28

6M ago24:28

24:28

MIT CSAIL Professors Srini Devadas and Vinod Vaikuntanathan join the CSAIL Alliances Podcast for a conversation about cybersecurity, addressing topics from federated protocols, the importance of data-driven approaches, and how quantum computing could change the landscape. Find out more about Professor Devadas, Professor Vaikuntanathan and CSAIL All…

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EP 133: Insights into pharmacogenomics and increasing diversity in genomics research with Dr. Emma Magavern 39:17

6M ago39:17

39:17

0:00 Introduction 2:00 The value of an English Literature degree in designing and analysing research studies in medicine 3:45 Emma’s entrance to pharmacogenomics and her transition from practising physician to genetics research 6:00 How the East London Genes and Health program is increasing representation of diverse populations, namely South Asians…

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An Interview With Dr. Jane Dickerson: Building a Professional Community for Laboratory Stewardship 27:46

6M ago27:46

27:46

Since its founding in 2013 at Seattle Children’s Hospital, PLUGS (Patient-Centered Laboratory Utilization Guidance Services) has brought together laboratory professionals, genetic counselors, clinicians, patients, and insurance companies across the country to improve the application of laboratory tests in clinical practice. In this interview, PLUGS…

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Building a Professional Community for Laboratory Stewardship 27:46

6M ago27:46

27:46

Since its founding in 2013 at Seattle Children’s Hospital, PLUGS (Patient-Centered Laboratory Utilization Guidance Services) has brought together laboratory professionals, genetic counselors, clinicians, patients, and insurance companies across the country to improve the application of laboratory tests in clinical practice. In this interview, PLUGS…

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EP 132: From mammoths to genome editing, trailblazing genetics with Dr. George Church 47:41

6M ago47:41

47:41

0:00 Introduction 1:00 George’s upcoming big projects, including developing full recycling, renewing energy, creating bioweather maps, and harnessing citizen science 6:45 Progress in engineering viral resistance in humans, including thoughts from pre- and post- pandemic 11:00 A swapped genetic code that prevents viral infections and gene transfer b…

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