In this week’s episode Patrick speaks to Quin Wills and Jack O’ Meara, Co-Founders of Ochre Bio, about their founding story, why in-silico discoveries could be the road to faster and lower cost liver therapeutics, and the need for prioritising preventative measures against disease as the average human lifetime gets longer.

EP 73: Ochre Bio: Building an in-silico liver model and addressing the impact and challenges of developing new treatments

Exploring all things genetics. Dr Patrick Short, University of Cambridge alumnus and CEO of Sano Genetics, analyses the science, interviews the experts, and discusses the latest findings and breakthroughs in genetic research. To find out more about Sano Genetics and its mission to accelerate the future of precision medicine visit: www.sanogenetics.com

Natural Sciences

Science & Medicine

Science

Life Sciences

0:00 Introduction
1:45 Almut’s research experience, including two recent publications on genome-scale metabolic reconstruction human microorganismsGenome-scale metabolic reconstruction of 7,302 human microorganisms for personalized medicineAPOLLO: A genome-scale metabolic reconstruction resource of 247,092 diverse human microbes spanning multiple continents, age groups, and body sites
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 diseasesTowards personalized genome-scale modeling of inborn errors of metabolism for systems medicine applications
45:00 Closing remarks
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EP 138: Personalised medicine using microbiome models with Dr. Almut Heinken

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 advancementsWebinar: 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 GenomicsPaper: 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 137: Mavis Machirori on promoting equity, diversity, and social justice in genomics research

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

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

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 73: Ochre Bio: Building an in-silico liver model and addressing the impact and challenges of developing new treatments

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