Best Kira Dineen Podcasts (2024)

1
EP 141: Bringing genomics to the clinic with Lori Orlando, Associate Prof at Duke University 43:24

14h 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…

1
#5 Non-Invasive Prenatal Screening (NIPS) and Fetal Sex Prediction 48:30

7d 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…

1
EP 140: The future of Electronic Health Records and data analysis with Ben Goldacre 52:51

7d 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…

1
Behind the ASO Design and Discovery with Konstantina Skourti-Stathaki, Ph.D. 27:33

8d 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…

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

10d 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…

1
EP 139: Rare disease breakthroughs using tRNA with Michelle Werner, CEO of Alltrna and CEO-Partner of Flagship Pioneering 44:42

14d 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…

1
Best of the 2023 Nano-rare Patient Colloquium 36:51

22d 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…

1
Introducing Rare Insights 2:01

23d 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…

1
EP 138: Personalised medicine using microbiome models with Dr. Almut Heinken 40:22

28d 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…

1
EP 137: Mavis Machirori on promoting equity, diversity, and social justice in genomics research 41:40

1M 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…

1
#4 Discussing Gender Inclusive Terminology and Gender-Affirming Hereditary Cancer Care 43:08

1M 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…

1
The Hurdles of Insuring Patients with Nano-rare Mutations with Alan Lotvin, M.D. 50:51

1M 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 …

1
EP 136: Developments in ring chromosome 20 research and advocacy with Allison Watson 40:57

1M 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…

1
EP 135: Integration of newborn sequencing programs into healthcare systems with Dr. Ingrid Holm 41:16

2M 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…

1
Anna's Story of Hope and Help: FUS-ALS with Sonja Kämpfer and Dr. Neil Shneider 43:06

2M 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…

1
EP 134: Prenatal genetic testing and the future of AI in genetic counselling with Kira Dineen, host of DNA Today 40:44

2M 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…

1
EP 133: Insights into pharmacogenomics and increasing diversity in genomics research with Dr. Emma Magavern 39:17

2M 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…

1
Mostyn's Story: Mother's Day Special with Zoe Hummel 50:06

2M ago50:06

50:06

Motherhood is a journey filled with challenges, but every step is worth it for the love and joy it brings. Zoe Hummel joins the show in this special Mother’s Day episode to discuss her son Mostyn’s emotional story to diagnosis, and the unique challenges and triumphs of being a nano-rare mom. Order your Mother's Day card by May 6, 2024! All proceed …

1
EP 132: From mammoths to genome editing, trailblazing genetics with Dr. George Church 47:41

2M 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…

1
#3 Diagnostic Odysseys with Secondary and No Primary Findings 42:42

2M ago42:42

42:42

To celebrate DNA Day we are releasing our April episode exploring concepts related to the diagnostic odyssey, whole genome sequencing, and results returned. Segment 1: A Journey of Hope and Resilience In our first segment, we delve into the research conducted by Celine Lewis, focusing on the emotional impact of receiving a "no primary finding" (NPF…

1
EP 131: The potential of somatic genomics in drug discovery and development with Jake Rubens 44:57

3M 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…

1
Physicians and Institutions Transform the Lives of Nano-rare Patients with Olivia Kim-McManus, M.D. 48:53

3M ago48:53

48:53

Research physicians and their associated institutions are monumental to the mission of the n-Lorem Foundation and are truly transformational to the lives of the nano-rare patients they treat. Olivia Kim-McManus, M.D., was one of four physician panelists at our first Colloquium who participated in "A Physician's Perspective on n-Lorem and Nano-rare"…

1
EP 130: Quarterly insights into noncoding variants and GWAS with Dr. Veera Rajagopal 51:56

3M 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…

1
EP 129: Patient advocacy for genetic ALS and FTD with Jean Swidler, Executive Director of End the Legacy 38:44

3M 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…

1
Advanced Genetics Part 2 25:52

3M ago25:52

25:52

Genetics can be intricate, no doubt. With millions of mutations present in every human, one might wonder why not everyone is impacted by pathogenic diseases. The Patient Empowerment Program aims to assist you in grasping the fundamental concepts of various mutations and how they function, paving the way for you to enhance your understanding of gene…

1
#2 Intersection of the Disability Community and Genetic Counseling Training/Practice 45:19

3M 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 …

1
EP 128: Parkinson’s disease and precision medicine with Drs. James Beck and Ignacio Mata 50:18

3M 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…

1
EP 127: Insights into precision medicine, fatty liver disease, and minimally invasive diagnostic tools with Dr. Mazen Noureddin 39:10

3M 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…

1
Advanced Genetics Part 1 30:13

4M ago30:13

30:13

Each time one of the cells in your body divides to form a new cell, 3 BILLION genetic letters must be accurately duplicated. That’s a big number and mistakes DO happen in everyone. That’s right, if you’re reading this, you have a genetic mutation. On This Episode We Discuss: Your genetic alphabet – nucleotides How to think about DNA Replication Typ…

1
EP 126: Patient-led research for ultra-rare disease drug development with Julia Taravella, Executive Director of Rare Trait Hope Fund 39:41

4M 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…

1
EP 125: The future of UK Clinical Trial Policy: Innovation, integration, and game-changing legislation with Lord James O’Shaughnessy 45:23

4M 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 …

1
Sharing Hope Through Storytelling & Connection with Shanna Tolbert 43:08

4M ago43:08

43:08

What's one way to spread hope? By sharing your experiences and connecting with others who truly understand the everyday challenges nano-rare patients face. Shanna Tolbert was one of five nano-rare patient caregivers who participated in the panel, The Perilous Journey to Diagnosis and Treatment for Nano-rare Disease Patients. Listen to Shanna’s take…

1
EP 124: How ReCode Therapeutics is pioneering tissue specific delivery of gene therapies for Primary Ciliary Dyskinesia with John Matthews 42:00

4M 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…

1
#1 Rare Disease Family Experience (Chromosome 18 Conditions and Pediatric Oncology) 43:13

4M ago43:13

43:13

Welcome to the first episode of DNA Dialogues! Today is February 29th, 2024. It is a leap year, so today marks an extra special rare disease day. Rare diseases can impact so many people - from patients themselves, to families, to broader communities. To celebrate rare disease day, we are going to dive into two recent articles from the Journal of Ge…

1
Introducing DNA Dialogues 2:47

4M ago2:47

2:47

Welcome to DNA Dialogues, where we dive into the intricate world of genetic counseling research. We are excited to announce our pilot episode will be released on Rare Disease Day 2024 (Thursday February 29th). Listen for a sneak peek at what is coming up on the podcast. Join us as we peel back the layers of groundbreaking articles from the Journal …

1
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

4M 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…

1
Our Mission is Personal with Sarah Glass 40:54

4M ago40:54

40:54

For n-Lorem’s Chief Operating Officer, Sarah Glass, the mission of n-Lorem is personal. Her son Ethan was diagnosed with a nano-rare mutation. A geneticist by training, she joined n-Lorem to oversee and direct the organization’s efforts to provide hope and potential help to those who need it most. It's more than just a job for her; she's powered by…

1
EP 122: Building genome-scale engineered cells for biotechnology with Leslie Mitchell, Co-founder and CEO of Neochromosome 35:55

5M 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…

1
EP 121: Breakthroughs and insights in ALS research with Dr. Michael Benatar 44:10

5M 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…

1
Q&A #2 with Patient Families 45:45

5M ago45:45

45:45

Charissa Lipman joins n-Lorem founder and CEO, and host of the Patient Empowerment Program Podcast, Dr. Stan Crooke, in this question-and-answer episode to discuss additional questions asked during the 2023 Nano-rare Patient Colloquium. Charissa attended the inaugural Colloquium in October 2023 and brings the perspective of a patient family member,…

1
EP 120: Exploring the frontiers of gene therapy and AAVs with Dr. Nicole Paulk, CEO and Founder of Siren Biotechnology 43:47

5M 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…

1
EP 119: Revolutionising drug discovery: how the Pharma Proteomics Project is combining genetic and proteomic data with Chris Whelan 38:25

5M 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…

1
Everybody Lives with Dan Doctoroff 48:37

5M ago48:37

48:37

We're diving into the archives to resurface this top downloaded episode from last year. Dan Doctoroff joined Patient Empowerment Program in February 2023 to talk about his mission to support a world where everyone with ALS lives. Dan is the former NYC deputy mayor for economics and former CEO of both Bloomberg L.P. and Sidewalk Labs. In this episod…

1
EP 118: The role of genetics in drug discovery and development with Dr. Matt Nelson 42:56

6M 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…

1
EP 117: Wendy Chung: whole genome newborn screening and other big opportunities in genomic medicine. 47:51

6M 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…

1
Best of the 2023 Nano-rare Patient Colloquium 39:02

6M ago39:02

39:02

For the return of the patient empowerment program podcast, 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…

1
EP 116: Genetics and Medicine: Clonal hematopoiesis, genomics in healthcare, and a new discovery in APOL1 kidney disease with Dr. Alex Bick 52:34

6M 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…

1
EP 115: The Biggest Stories of 2023 with Dr. Veera Rajagopal (Part 2) 1:35:11

6M ago1:35:11

1:35:11

In the second instalment of our annual round-up episode, we welcome back Dr. Veera Rajagopal to cover the biggest stories in genetics and precision medicine of the last 12 months. Don’t forget to give the first instalment of our 2023 round-up a listen. Veera is a scientist at Regeneron with an interest in human genetics and drug target discovery in…

1
EP 114: The Biggest Stories of 2023 with Dr. Veera Rajagopal (Part 1) 1:10:35

7M ago1:10:35

1:10:35

0:00 Introduction 1:30 Veera’s personal highlights of 2023 Publication in Nature Genetics: Rare coding variants in CHRNB2 reduce the likelihood of smoking, an exome-wide association study identifying rare coding variants in CHRNB2 that may reduce the likelihood of smoking. Designing cover art Genetic links to neural circuits and their role in addic…

1
How to Think About "Risk" Part 2 35:28

7M ago35:28

35:28

Nano-rare diseases strip power from families and this often leads to hopelessness, anger, and dread. However, channeling these intense emotions to carefully navigate risk/benefit decisions is within one’s control. n-Lorem is different than standard drug development settings. Every risk/benefit decision that n-Lorem makes is in the context of the in…

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