A(z) Kira Dineen csatorna legjobb podcastjai (2024)

1
EP 159: Engineering macrophages to tackle rare disease with Noam Baumatz of Noga Therapeutics 44:17

9h 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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#9 Black Previvor and Survivor Breast Cancer Genetic Testing Experiences 44:34

19h ago44:34

44:34

In this episode we discuss a research study that focuses on Black women who tested positive for a pathogenic variant associated with an increased risk for breast cancer. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website. Please note that the terminology used …

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

8d 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

14d 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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Susannah's Progress: Two Years of ASO Treatment with Dr. Jennifer Bain and Luke Rosen 40:38

16d ago40:38

40:38

Two years of treatment—two years of strength, courage, and blazing a trail for other nano-rare patients! 🎉 Susannah's story was the first shared on the Patient Empowerment Program podcast. Now, two years later, her father, Luke Rosen, and her physician, Dr. Jennifer Bain, detail Susannah’s remarkable progress since beginning regular treatments—high…

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

20d 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.Sano Genetics által

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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

21d 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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#2 Intersection of the Disability Community and Genetic Counseling Training/Practice 45:19

23d ago45:19

45:19

In our second episode, we explore two recent articles focusing on the intersection of the disability community and genetic counseling training and practice. Segment 1: “Disability education and implications for genetic counselor training” Lauren Douglas (she/her) serves as an oncology genetic counselor and supervisor for graduate student rotations …

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

28d 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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Sneak Peek of the 2024 Nano-rare Patient Colloquium 41:44

29d ago41:44

41:44

Take a glimpse behind the curtain as we offer you a sneak peek of the 2024 Nano-rare Patient Colloquium. We’re thrilled to welcome back longtime biotech journalist and current Features Editor of The Transmitter, Brady Huggett, to the podcast. In an interview with n-Lorem founder and CEO Stan Crooke, they preview the upcoming Colloquium, diving into…

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#4 Conquering the Science of Muscle Disease with Edgewise Therapeutics 21:15

1M ago21:15

21:15

In this episode of "Rare Insights," host Taren Grom speaks with Dr. Joanne Donovah, Chief Medical Officer at Edgewise Therapeutics, about groundbreaking advancements for severe, rare muscle disorders. Dr. Donovan shares why Edgewise’s approach to targeting the basic unit of muscle contraction and being able to preserve and protect muscle function c…

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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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#8 Neurogenetics: Predictive Testing for ALS and Dynamic Coping in Pediatric Ataxia-Telangiectasia 49:03

1M ago49:03

49:03

In this episode we discuss research on patient and family experiences in neurogenetics. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website. Segment 1: “Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral scler…

1
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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The Building Blocks of What's Possible with David Butler, Ph.D. 29:50

1M ago29:50

29:50

Hongene Biotech is a producer of RNA building blocks – the first step for what’s possible in RNA drug-discovery and development. David Butler, Ph.D., Chief Technology Officer of Hongene, joins the Patient Empowerment Program to discuss why Hongene aims to help make RNA medicines accessible and affordable for patients everywhere, regardless of preva…

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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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Knowledge is Power: Part 2 29:34

2M ago29:34

29:34

The concluding episode of the Knowledge is Power series. The knowledge we are gaining at n-Lorem has even more value than benefiting nano-rare patients and their families. These insights will enable scientists to discover new therapeutic targets for both common and rare diseases, fundamentally changing the way we approach health and disease. Survey…

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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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#7 Simulation and Leadership Development in Clinical Training for Genetic Counselors 45:42

2M ago45:42

45:42

Guests include Megan Cho to discuss her paper, “Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies” as well as Amanda Polanski and Ashley Kuhl to discuss their paper, “Leadership development in genetic counseling graduate programs.” In this episode we discuss clinical trainin…

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#3 Transformative Cell and Exosome-Based Therapies with Capricor Therapeutics 20:01

2M ago20:01

20:01

In this episode of "Rare Insights," host Taren Grom sits down with Dr. Linda Marbán, Chief Executive Officer at Capricor Therapeutics, to discuss groundbreaking advancements in the treatment of Duchenne muscular dystrophy and other rare diseases through innovative cell and exosome-based therapies. Dr. Marbán shares her journey in the biotechnology …

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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…

1
Knowledge is Power: Part 1 35:19

2M ago35:19

35:19

The knowledge we are gaining at n-Lorem has even more value than benefiting nano-rare patients and their families. These insights will enable scientists to discover new therapeutic targets for both common and rare diseases, fundamentally changing the way we approach health and disease. Survey – Patient Empowerment Program PodcastRegister for the 20…

1
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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Adopting a Rare Son with Paul Compton 33:39

3M ago33:39

33:39

Paul Compton and his wife Andrea chose to start a family through adoption. Unknown to anyone, one of their adopted boys, Taeson, was the inheritor of DRPLA, a progressive brain disorder caused by a mutation in the ATN1 gene. Determined to find a treatment and advocate for their son and others with the disease, the Comptons established CureDRPLA. In…

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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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#2 Using “Sea Squirts” to rewrite RNA with Ascidian Therapeutics 24:21

3M ago24:21

24:21

In this episode of "Rare Insights," host Taren Grom speaks with Dr. Jay Barth, Chief Medical Officer at Ascidian Therapeutics, about groundbreaking advancements in RNA editing technology and its potential in the rare disease space. Dr. Barth discusses Ascidian’s innovative approach, inspired by “sea squirts,” and shares insights on the development …

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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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#6 Exploring Abortion Care: Reproductive Justice and Healthcare Professional Training in the Face of Changing Legislation 31:35

3M ago31:35

31:35

Guests include Gina Sanchez to talk about her paper, “Status of abortion curriculum in genetic counseling: Survey of graduate programs and recent graduates in the United States” and Dr. Holly Rankin to discuss her paper, “Termination counseling among US perinatal genetic counselors in the setting of second trimester fetal anomalies.” Segment 1: Gin…

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Ion Channel Mutations: The Complexities of Treatment 30:16

3M ago30:16

30:16

Mutations affecting ion channels are the most common cause of 'applications for treatment' submitted to n-Lorem. These channels regulate the passage of essential electrically charged ions, like sodium, potassium, calcium, and chloride, into cells. Alas, ion channels pose a significant challenge in the ASO discovery process, as there is little room …

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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…

1
Why We Dose Intrathecally 29:18

4M ago29:18

29:18

The affected organs of our patients determine the route of administration for an ASO, as certain routes can better target specific organs and offer the best potency. The central nervous system (CNS) is the most common target we encounter, and for this, we dose intrathecally. Let’s dive into how this is done and the particulars of why this approach …

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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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#5 Non-Invasive Prenatal Screening (NIPS) and Fetal Sex Prediction 48:30

4M ago48:30

48:30

In this episode we discuss navigating non-invasive prenatal screening, also known as non-invasive prenatal testing, by reviewing two articles covering genetic counseling insights, informed consent challenges, and inclusive practices. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Ge…

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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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Behind the ASO Design and Discovery with Konstantina Skourti-Stathaki, Ph.D. 27:33

4M ago27:33

27:33

Konstantina Skourti-Stathaki leads the n-Lorem research team behind the design and discovery of ASOs. Nadina, as we at n-Lorem call her, has a passion for helping patients and an excitement for science that is contagious. She joins the Patient Empowerment Program podcast to discuss her day-to-day activities as n-Lorem’s Director of ASO Design and D…

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#1 Sustaining A Rare Disease Pipeline with Rocket Pharma 23:58

4M ago23:58

23:58

In this episode of "Rare Insights," host Taren Grom sits down with Dr. Kinnari Patel, President, Head of R&D and Chief Operating Officer for Rocket Pharma, to discuss the company’s burgeoning pipeline of rare disease assets and why applying data across its portfolio of potential treatments is just one key to the company’s success. Dr. Kinnari Patel…

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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

4M 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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Best of the 2023 Nano-rare Patient Colloquium 36:51

5M ago36:51

36:51

We’re recapping the 2023 Nano-rare Patient Colloquium in this special “Best of” episode. For the Colloquium, we gathered the nano-rare community under one single roof for a full day of presentations and panels with experts, partners, supporters, and patients. So, we are bringing some of the top moments directly to your speakers. Discover the origin…

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Introducing Rare Insights 2:01

5M ago2:01

2:01

“Rare Insights” is a podcast series interviewing industry and organizational leaders about the development of future therapies for rare diseases. On “Rare Insights” we bridge the gap between those living with rare diseases and the biopharmaceutical industry. Know Rare amplifies the voices of individuals with rare conditions, providing invaluable pe…

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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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#4 Discussing Gender Inclusive Terminology and Gender-Affirming Hereditary Cancer Care 43:08

5M ago43:08

43:08

In our fourth episode, we delve into the importance of gender-inclusive language in genetic counseling and the specific challenges transgender and gender-diverse (TGD) individuals face in accessing hereditary cancer care. You can find these articles in a special virtual issue of the Journal of Genetic Counseling which is free and open access for th…

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The Hurdles of Insuring Patients with Nano-rare Mutations with Alan Lotvin, M.D. 50:51

5M ago50:51

50:51

What's preventing insurers from covering the specialized care of patients with nano-rare mutations, thereby expanding access to available treatment options? Is it the population size, cost, or perceived risk? Given that the initial discovery of nano-rare mutations is relatively recent, paving the way for this population requires a nuanced approach …

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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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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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Anna’s Story of Hope and Help: FUS-ALS with Sonja Kämpfer and Dr. Neil Shneider 43:06

6M ago43:06

43:06

Stan Crooke speaks with Sonja Kampfer and Dr. Neil Shneider, associate professor of motor neuron disorders at Columbia Medical School, about Sonja’s daughter, Anna. Anna was diagnosed with an aggressive, fatal form of ALS at the age of 16. ALS is rare in teenagers, and this form of ALS is the worst of the worst. Sonja tells Anna’s story initial sym…

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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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