The Genetics Podcast

Latest Episodes:

EP 141: Bringing genomics to the clinic with Lori Orlando, Associate Prof at Duke University Jul 04, 2024

Show notes

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 informatics
09:56 The emergence of implementation science
11:47 Helping patients understand the implications and limitations of different types of genetic testing
13:11 The biggest challenges for the evolution of genomics and genetic testing
15:28 Emerging tools physicians can share to help patients understand genetic testing and its impacts
18:06 How primary care doctors can use genetic testing results to identify clear treatment pathways for specific conditions
24:33 The evolution of genetic counselling in primary care in the context of monogenic disease
28:34 Conditions where genetics, behaviour, and environment are deeply linked and where behaviour change can act as a preventative measure
35:00 Providing overall assessments to patients, including genetic testing and family history, to see how it changes their healthcare
35:50 How the MeTree platform is helping patients understand family health history
37:41 How to optimise family health history for current healthcare
42:15 Closing remarks
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Find out more
metreeandyou.com
Undiagnosed Diseases Network

EP 140: The future of Electronic Health Records and data analysis with Ben Goldacre Jun 27, 2024

Show notes

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 in this relatively new field
08:20 The OpenSAFELY platform: The challenges of data security vs usability
14:47 Diverse opinions on which types of health data should be sharable and how to manage privacy and anonymity
17:46 How to grant access to data while protecting privacy
19:23 Using randomly generated “dummy” data to build and test code and statistical models
20:26 How synthetic data has been used to protect privacy
28:16 The challenges of working with, and analysing, Electronic Health data
30:46 The fact that just 2% of all health data research papers share their code
33:32 Idiosyncrasies of EHR analysis including data inconsistencies and challenges of coding variables within research silos
35:03 Building EHRQL (Electronic Health Records Query Language) to drive standardisation
37:47 OpenSAFELY as a portable, open-source set of data analysis tools including data preparation
38:21 Applications of the OpenSAFELY framework outside of the UK
40:22 How standardisation and domain specific language for data preparation encourages high-quality, unified code
45:10 Ben’s career arc, from public-facing roles to a return to research
51:00 Closing remarks
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opensafely.org

EP 139: Rare disease breakthroughs using tRNA with Michelle Werner, CEO of Alltrna and CEO-Partner of Flagship Pioneering Jun 20, 2024

Show notes

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 premature termination codons so healthy coding can be restored.
08:10 The number of different engineered tRNAs required to address the 6,000+ genetic diseases
09:38 How Alltrna aims to deliver precision repair using just 19 amino acids.
12:10 Lipid nanoparticles: Modes of delivery and how to get the technology to the right tissues.
14:20 Major types of delivery, from Adeno-Associated Virus (AVV) to conjugations.
16:30 The development of tRNA as a new therapeutic approach and the latest foundational tools.
18:38 How basket clinical trials in the oncology space are enabling mutation specific therapies.
20:22 Entering into the rare genetic liver disease space with a basket trial approach.
21:40 tRNA opening up a unique opportunity to target multiple rare and ultra-rare diseases.
23:13 Measuring efficacy when using an umbrella approach to stop codon diseases.
26:25 Tackling conversations with the Food and Drug Administration and other health authorities.
29:46 How proving the modality to be safe and effective opens up the possibility to focus on diseases which are less well characterised.
31:18 The importance of patient advocacy groups and industry collaboration for delivering therapies and technologies across different geographies.
32:40 Decision-making, including when to develop inhouse and when to seek external partnerships.
34:42 Key learnings Michelle has brought from large pharma organisations to Alltrna
37:51 Working with patient-led organisations to power development in disease areas where there is less commercial value.
40:21 Why Michelle is so passionate about the work being done at Alltrna and how the tRNA modality can bring new solutions to rare disease families and patients.
41:28 One technology or idea Michelle thinks everyone should keep watching and learn more about.
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Find out more:alltrna.com rarediseaserenegades.org

EP 138: Personalised medicine using microbiome models with Dr. Almut Heinken Jun 06, 2024

Show notes

0:00 Introduction
1:45 Almut’s research experience, including two recent publications on genome-scale metabolic reconstruction human microorganisms

8:00 Implications for personalised medicine and drug discovery using microorganisms in colorectal cancer, inflammatory bowel disease, ulcerative colitis, and more
14:30 Using metabolite and microbiome models to predict the effectiveness of medications
18:00 Differences in microbial communities between various ethnicities, nationalities, and races
24:00 Understanding microbiome community models with the goal of informing drug discovery
26:30 The interplay between diet, the microbiome, and nervous system
28:00 How to use predictive models to understand the diet-microbiome relationship
36:00 Upcoming projects studying the gut microbiome and epigenetics
38:30 Comparing a vaginal birth to a caesarean section on the child’s microbial immunity
40:00 Explaining the cause of heterogeneous differences in monogenic diseases

Towards personalized genome-scale modeling of inborn errors of metabolism for systems medicine applications

45:00 Closing remarks
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EP 137: Mavis Machirori on promoting equity, diversity, and social justice in genomics research May 30, 2024

Show notes

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 Eurocentricity in genetics research
14:30 Creating a playbook for community- and equity-centred research practices
18:30 Groups in the US and the UK that promote community-driven research

Reference Guide: Closing the gap in patient data for black and south Asian communities

21:30 Mavis’ 2022 publication in Nature Reviews Genomics

Paper: Unpacking race and ethnicity in African genomics research

27:30 Contemplating the design of a genomics research project in Zimbabwe
29:00 How researchers can best elucidate the full value of cultural, ethnic, and racial differences in genomics studies

Reference paper: Conflating race and ancestry: Tracing
decision points about population descriptors over the precision medicine research life course

35:30 Setting a mission to provide genomics research for the world
40:00 Mavis’ current work and what she’s excited to pursue in the future
42:00 Closing remarks
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EP 136: Developments in ring chromosome 20 research and advocacy with Allison Watson May 23, 2024

Show notes

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 Engaging in partnerships to broaden participant pools and academic research
31:00 Facilitators and challenges of patient-led research: PLRH.org
35:00 Common causes with other patient organisations, and the origin of the UK Rare Epilepsies Together Network
42:00 Closing remarks
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EP 135: Integration of newborn sequencing programs into healthcare systems with Dr. Ingrid Holm May 16, 2024

Show notes

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 involved in newborn sequencing programs
15:00 The range of genes tested in newborns and potential implications for family members
20:00 Ingrid’s predictions for the field of paediatrics and the medical school curriculum
24:00 Thoughts on Sudden Infant Death Syndrome (SIDS) and ethical considerations for parents wanting to have another child
30:30 Projections for BabySeq2, as well as barriers and facilitators to universal newborn screening
35:45 Addressing affordability of newborn genetic programs and commentary on healthcare economics
38:50 Predictions for how paediatric care will change if healthcare systems widely adopt newborn sequencing
42:15 A promising study targeting the FUS mutation for childhood ALS
43:30 Closing remarks
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EP 134: Prenatal genetic testing and the future of AI in genetic counselling with Kira Dineen, host of DNA Today May 09, 2024

Show notes

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 experience
14:45 Kira’s decision to work in prenatal genetic counselling and how the podcast helped inform her career choice
19:00 The process of prenatal genetic testing
25:00 The reliability of various forms of prenatal testing, especially variations of blood draws
27:40 The potential for using chatbots and AI in genetic counselling
35:30 Up-and-coming developments in genetics, as well as some great wins from the last couple years
40:00 Closing remarks
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EP 133: Insights into pharmacogenomics and increasing diversity in genomics research with Dr. Emma Magavern May 02, 2024

Show notes

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, in genomics research
9:00 The scale of data available from linking electronic health data to research
11:15 The unclear bidirectional relationship between statins and cataracts
17:00 A potentially protective gene factor that can reduce the likelihood of cataracts in those who take statins
22:15 Striving for global, diverse representation in pharmacogenomics research
26:40 The risk of amyloid-related imaging abnormalities (ARIA) for a relatively new Alzheimer’s disease drug, and implications for future drug development
29:15 How pharmacogenomics fits into medicine and healthcare systems
31:30 The challenges of incorporating preventive care into existing healthcare systems
34:00 Building trust as a cornerstone of healthcare, community medicine, and research
39:00 Community views on pharmacogenomics
40:15 Closing remarks
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EP 132: From mammoths to genome editing, trailblazing genetics with Dr. George Church Apr 25, 2024

Show notes

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 by manipulating tRNAs
13:45 George’s guiding principles for his personal and professional life
20:15 Tinkering with unknowns and complex systems: gene drives, germline genetic engineering, and bringing back extinct species
29:40 George’s creative process and how he became a prolific innovator
36:00 Debunking the science behind Jurassic Park, and the potential of bringing back the mammoth
41:30 George’s decision to make his medical information, including his genome, open source
48:00 Societal views on genome editing, embryos, and germline mutations
54:00 Closing remarks
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