최고 Electronic Health Record System 팟캐스트 (2024)

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EP 160: Artificial Intelligence, GWAS in Drug Discovery, and Career Insights with Dr. Eric Fauman, Executive Director and Head of Computational Biology in the Internal Medicine Research Unit at Pfizer 52:25

2d ago52:25

52:25

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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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

17d 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

23d 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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EP 156: The Genetics Podcast In-Person Event! 1:32

29d 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

1M 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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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

2M 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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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

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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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

3M 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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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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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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EP 144: Research Roundup with Dr. Veera: breakthroughs in developmental disorders, Parkinson's, SLE, and Alzheimer's 56:48

4M 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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EP 140: The future of Electronic Health Records and data analysis with Ben Goldacre 52:51

5M 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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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

6M 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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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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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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EP 132: From mammoths to genome editing, trailblazing genetics with Dr. George Church 47:41

7M 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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EP 131: The potential of somatic genomics in drug discovery and development with Jake Rubens 44:57

7M ago44:57

44:57

0:00 Intro 0:40 Jake’s experiences as a serial entrepreneur starting five companies with a basis in genomic science 5:30 Opportunities for research and drug development in the realm of somatic science 9:20 Somatic evolution and how it provides valuable insights into disease mechanisms 12:30 Advantages and disadvantages of studying germline genome-w…

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EP 130: Quarterly insights into noncoding variants and GWAS with Dr. Veera Rajagopal 51:56

7M ago51:56

51:56

Show Notes: 0:00 Introduction 1:20 How polydactyl mutations can inform research on non-coding variant mechanisms The importance of low-affinity binding between transcription factors and targets How these lessons can help us improve our understanding of drug and target discovery See Veera’s January round-up for more information: https://www.gwasstor…

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EP 129: Patient advocacy for genetic ALS and FTD with Jean Swidler, Executive Director of End the Legacy 38:44

7M ago38:44

38:44

0:00 Introduction 0:45 Jean’s personal experiences with family members with genetic ALS 10:00 Jean’s thoughts on the barriers and facilitators to providing treatment for those with genetic ALS 13:20 Insights into C9orf72, a common genetic determinant of ALS, and how it can also be associated with FTD 16:10 Jean’s experiences as an active advocate f…

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EP 128: Parkinson’s disease and precision medicine with Drs. James Beck and Ignacio Mata 50:18

8M ago50:18

50:18

0:00 Introduction 1:05 Insights into the PD GENEration’s (a programme from the Parkinson's Foundation) milestones and progress points for the upcoming year 3:30 The shifting attitudes and perspectives of neurologists and healthcare workers at the PD GENEration 5:50 Insights into Nacho’s work with the genetics of Parkinson’s disease 10:20 Barriers a…

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EP 127: Insights into precision medicine, fatty liver disease, and minimally invasive diagnostic tools with Dr. Mazen Noureddin 39:10

8M ago39:10

39:10

0:00 Intro 0:25 Mazen’s lifelong commitment to furthering the field of precision medicine in liver disease research, fueled by a personal connection of his grandmother developing MASH cirrhosis 2:30 Breakthroughs in the field of metabolic dysfunction-associated steatotic liver disease (MASLD) since the beginning of Mazen’s career 5:30 The potential…

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EP 126: Patient-led research for ultra-rare disease drug development with Julia Taravella, Executive Director of Rare Trait Hope Fund 39:41

8M ago39:41

39:41

0:00 Introduction 0:25 Julia’s personal experience with ultra-rare diseases within her family 10:25 The importance of increasing accessibility to genetic testing across populations to learn more about ultra-rare diseases 14:00 The origin story of Rare Trait Hope Fund 23:50 Current research and next steps in developing potential gene therapies for a…

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EP 125: The future of UK Clinical Trial Policy: Innovation, integration, and game-changing legislation with Lord James O’Shaughnessy 45:23

8M ago45:23

45:23

0:00 Introduction 1:25 How Lord O’Shaughnessy became involved in scientific policy making and his path to writing the UK Commercial Clinical Trials Review. 04:05 How Lord O’Shaughnessy pivoted from education to a focus on life sciences 06:38 The biggest challenges Lord O’Shaughnessy faced during his time as Parliamentary Under Secretary for Health …

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Midnight Vespers - 2/29/2024 Featuring: SIERRA, Karl Casey, Revolting Cocks, The Gruesome Twosome, Meat Beat Manifesto, Skinny Puppy, Cryo, Bigod20, Rotersand, The KLF, Wolfsheim, Cyber-Tec Project, Icon ... 1:26:59

8M ago1:26:59

1:26:59

Midnight Vespers - 02/29/2024 Weekly Podcast playing Goth, Post Punk, EBM, EDM, Industrial, Techno, Hard Techno, New Wave, Dark Electronic, Dark Wave, Death Rock and Gothic Midnight Vespers 2/29/2024 Featuring : SIERRA, Karl Casey, Revolting Cocks, The Gruesome Twosome, Meat Beat Manifesto, Skinny Puppy, Cryo, Bigod20, Rotersand, The KLF, Wolfsheim…

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EP 124: How ReCode Therapeutics is pioneering tissue specific delivery of gene therapies for Primary Ciliary Dyskinesia with John Matthews 42:00

8M ago42:00

42:00

0:00 Introduction 01:10 How growing up in Malawi planted the seeds for John’s career in medicine and transition to therapeutic development 04:35 Why John focuses on rare diseases and conditions such as asthma 06:01 What has changed over the last decade in terms of treating and understanding asthma and the progress that genetics has enabled 07:31 Wh…

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EP 123: The ethics of newborn genome screening: Actionable insights and beyond with Holly Peay, Senior Research Scientist at the Research Triangle Institute 45:34

9M ago45:34

45:34

0:00 Introduction 0:50 Holly’s background and career so far 03:30 Complex decision-making and multiple risk factors: Family history, genetics, phenotypes and beyond 07:05 Changes within the last decade to help people make complex, sometimes subjective, healthcare decisions 09:20 Impact on people: The RTI’s mission and the Early Check Study 13:45 Ne…

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EP 122: Building genome-scale engineered cells for biotechnology with Leslie Mitchell, Co-founder and CEO of Neochromosome 35:55

9M ago35:55

35:55

Summary: 0:00 Introduction 01:01 How Leslie got into the field of synthetic biology and engineering, and her career journey so far 02:45 What Leslie accomplished during her postdoc and recent transformations in the field of genomics 05:57 The impacts of non-coding regions of the genome and the outcome of deletions 08:20 How long it takes to make ch…

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Midnight Vespers - 02/08/2024: Favorite songs released in 2023/24 featuring: Ashbury Heights, Night Club, SIERRA, Portion Control, Noisuf-X, Seelennacht, Eisfabrik, [:SITD:], Lazerpunk, State of the Union ... 1:23:31

9M ago1:23:31

1:23:31

Midnight Vespers - 02/08/2024 Weekly Podcast playing EBM, Goth, Post Punk, EDM, Industrial, New Wave, Dark Electronic, Dark Wave, Death Rock, Electronic Music, Hard Techno, and Techno. Midnight Vespers Favorite songs released in 2023/24 featuring: Ashbury Heights, Night Club, SIERRA, Portion Control, Noisuf-X, Seelennacht, Eisfabrik, [:SITD:], Laze…

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EP 121: Breakthroughs and insights in ALS research with Dr. Michael Benatar 44:10

9M ago44:10

44:10

Summary: 0:00 Introduction 0:50 Reflections from the 34th International Symposium on ALS/MND in Basel 1:50 Michael’s professional journey, initial challenges he encountered, and how the field of neurology has evolved over the years 3:10 An introduction to the ALS landscape, including its presentation, the genes involved, and potential treatment opt…

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EP 120: Exploring the frontiers of gene therapy and AAVs with Dr. Nicole Paulk, CEO and Founder of Siren Biotechnology 43:47

9M ago43:47

43:47

0:00 Introduction to Dr. Nicole Paulk, a pioneer in AAV research and the founder of Siren Biotechnology 0:50 The moments that shaped Nicole’s career path and her passion for gene therapy and AAV research 9:20 Nicole’s academic research career and her transition from academia to the biotech industry 23:00 The story behind the founding of Siren Biote…

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Midnight Vespers - 01/30/2024 Part I: Interview w/ Mikhail AG Konov + DJ Set (A Cross Between, DVNGEONS) 2:14:34

9M ago2:14:34

2:14:34

DJ Mikhail AG Konov of A Cross Between and Dvngeons is in the studio 1/30/2024 playing a DJ Set of Hard Techno and does an interview after. DJ Mikhail talks his Boston show and playing in Florida and what's next for A Cross Between. Part I of Interview. Thank you for listening! Be sure to find me on X, Instagram, Facebook, and Youtube. Midnight Ves…

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EP 119: Revolutionising drug discovery: how the Pharma Proteomics Project is combining genetic and proteomic data with Chris Whelan 38:25

10M ago38:25

38:25

0:00 Introduction 01:00 Chris’ background and career to date 02:10 What is the Enigma Project? 04:48 How is genetics being applied to drug discovery today and how does proteomics fit in? 09:23 When the UKBiobank Pharma Proteomics Project began and how long it took to set up 10:57 54k UK Biobank participants tested - discussion of findings 14:33 The…

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EP 118: The role of genetics in drug discovery and development with Dr. Matt Nelson 42:56

10M ago42:56

42:56

Summary: 0:00 Introduction 5:45 Lessons learned from 15 years at GSK: How has genetics and drug discovery evolved over time? 8:10 Matt’s seminal 2015 paper: Quantifying the impact of human genetic evidence on the probability of success in drug development 11:40 Which types of genetic evidence are the best drivers of success in clinical trials? 13:3…

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Midnight Vespers - 01/11/2024 Part II: Favorite songs released in 2023 featuring: A Cross Between, 3TEETH, SIERRA, 3 (Crosses), KANGA, BRVMES, HEALTH, Drab Majesty, VV, SKOLD, Glass Spells, Male Tears ... 1:17:52

10M ago1:17:52

1:17:52

Midnight Vespers - 01/11/2024 Weekly Podcast playing Goth, Post Punk, EBM, EDM, Industrial, Techno, New Wave, Dark Electronic, Dark Wave, Death Rock and Gothic Part II of Midnight Vespers Fav songs released in 2023 featuring: A Cross Between, 3TEETH, SIERRA, 3 (Crosses), KANGA, BRVMES, HEALTH, Drab Majesty, VV, SKOLD, Glass Spells, Male Tears, Plat…

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EP 117: Wendy Chung: whole genome newborn screening and other big opportunities in genomic medicine. 47:51

10M ago47:51

47:51

Summary: 0:00 Introduction 1:45 Wendy’s early career looking into the genetics of diabetes through mouse models 6:23 A high altitude view: Cutting through hype to spot the next wave of game-changing technology 8:03 The role of policy and communication: how Wendy’s work goes beyond the lab to create real-world impact 11:20 Wendy’s choice to do an MD…

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Midnight Vespers - 01/04/2024 Part I: Favorite songs released in 2023 featuring: Reichsfeind, Aesthetic Perfection. Beborn Beton, Faderhead, Mental Discipline, Any Second, BlakLight, Lifelong Corporation ... 1:24:22

10M ago1:24:22

1:24:22

Midnight Vespers - 01/04/2024 Weekly Podcast playing Goth, Post Punk, EBM, EDM, Industrial, Techno, New Wave, Dark Electronic, Dark Wave, Death Rock and Gothic Part I Favorite songs released in 2023 featuring: Reichsfeind, Aesthetic Perfection. Beborn Beton, Faderhead, Mental Discipline, Any Second, BlakLight, Lifelong Corporation, Chainreactor, ES…

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EP 116: Genetics and Medicine: Clonal hematopoiesis, genomics in healthcare, and a new discovery in APOL1 kidney disease with Dr. Alex Bick 52:34

10M ago52:34

52:34

0:00 Introduction 4:23 Insights into clonal hematopoiesis from the pioneering Framingham Heart Study 8:30 Linking clonal hematopoiesis to cancer and cardiovascular health 11:22 Interplay of germline and somatic variants in clonal expansion 17:20 How the rate of clonal expansion can provide insights into cancer and cardiovascular risk 19:00 How clon…

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