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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
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In this episode of The Genetics Podcast, we welcome Dr. Konstantinos Lazaridis, the Executive Director of the Center for Individualized Medicine at the Mayo Clinic. Tune in to learn about the impacts of genomics and individualised medicine on rare liver diseases and advanced cancers . Discover how the Mayo Clinic actively uses genomic testing, precision medicine, and environmental interventions to improve patient outcomes.
In this episode, Patrick welcomes Caroline Wright, a leading expert in genomic medicine and Professor of Genomic Medicine at Exeter University. Listen in as they delve into the world of rare diseases, discussing the challenges in diagnosis, uses of population cohorts and, the potential of newborn screening. Caroline shares her excitement about new technologies in genomics and emphasises the importance of data sharing. Discover the significance of genetic variants and the need for cautious interpretation.
In this episode, Patrick welcomes J. Warren Huff, CEO and Chairman of Reata Pharmaceuticals. Reata is known for innovating small-molecule therapies for severe and life-threatening diseases. Listen in as Warren walks us through their approach of partnering with Universities to find scientific discoveries that could become the next generation of therapies, and Reata’s recent success developing a groundbreaking new treatment for Friedreich’s Ataxia (FA), thanks to close collaboration with patient organizations and novel use of natural history data to accelerate their clinical development.
0:00 The beginnings of Reata
2:40 Partnering with universities for breakthroughs in research
5:30 Implications of cancer prevention research on chronic diseases
11:40 Potential concerns in medical ethics and Big Pharma when developing groundbreaking treatments
13:20 Research on NRF2 and its role in treating Friedreich’s Ataxia, a genetic mitochondrial disease that leads to motor neuron decline
18:00 What is a natural history study, and how was it used in Reata’s FA clinical development?
22:50 The potential for clinical grade wearable devices
23:35 Determining clinical endpoints in clinical trials
26:00 The FDA’s approval process for rare disease treatments
32:40 Potential for expanding newborn screening programs
36:00 The generalizability of NRF2-based research to other inflammatory diseases and diseases related to mitochondrial malfunction
39:40 What is Type 3 Diabetes?
40:30 Warren’s career start as a lawyer and his journey to biotech
43:00 Searching for provocative biology
46:20 Major targets for the HSP program
48:30 Closing remarks and lessons in resiliency
In this episode, Patrick welcomes J. Warren Huff, CEO and Chairman of Reata Pharmaceuticals. Reata is known for innovating small-molecule therapies for severe and life-threatening diseases. Listen in as Warren walks us through their approach of partnering with Universities to find scientific discoveries that could become the next generation of therapies, and Reata’s recent success developing a groundbreaking new treatment for Friedreich’s Ataxia (FA), thanks to close collaboration with patient organizations and novel use of natural history data to accelerate their clinical development.
0:00 The beginnings of Reata
2:40 Partnering with universities for breakthroughs in research
5:30 Implications of cancer prevention research on chronic diseases
11:40 Potential concerns in medical ethics and Big Pharma when developing groundbreaking treatments
13:20 Research on NRF2 and its role in treating Friedreich’s Ataxia, a genetic mitochondrial disease that leads to motor neuron decline
18:00 What is a natural history study, and how was it used in Reata’s FA clinical development?
22:50 The potential for clinical grade wearable devices
23:35 Determining clinical endpoints in clinical trials
26:00 The FDA’s approval process for rare disease treatments
32:40 Potential for expanding newborn screening programs
36:00 The generalizability of NRF2-based research to other inflammatory diseases and diseases related to mitochondrial malfunction
39:40 What is Type 3 Diabetes?
40:30 Warren’s career start as a lawyer and his journey to biotech
43:00 Searching for provocative biology
46:20 Major targets for the HSP program
48:30 Closing remarks and lessons in resiliency
Join Patrick Short and Professor Clare Turnbull, Professor in Translational Cancer Genetics at the Institute of Cancer Research, as they discuss polygenic risk scores and their application in healthcare. Delve into the complexities of predicting disease, the challenges of screening programs, and the potential impact of integrating genomics into healthcare systems. Discover the limitations and potential of polygenic risk scores and gain valuable insights into the future of personalized medicine.
0:00 Intro
1:00 Clare’s path to becoming a clinical geneticist and her research in uncovering genetic links to cancer
3:20 How do Polygenic Risk Scores help to predict disease, particularly breast cancer?
10:00 The influence of environmental and genetic effects on breast cancer presentation
11:30 Next clinical steps after determining genetic risk for breast cancer
17:30 How effective and accurate are polygenic risk scores in predicting various types of cancer, given the potential for false positives or negatives?
25:00 The potential for integrating genetic screenings and polygenic risk scores into early cancer diagnosis
27:20 How do monogenic risk scores like BRCA 1 and 2 fit into the paradigm of cancer research?
31:30 Using both monogenic and polygenic to explain population prevalence of disease
35:00 Integration of genomics and genetic screenings into the UK healthcare system
40:30 What comes after the genetic test? What is the use in identifying risk for a disease if nothing is subsequently done to prevent it?
44:50 Clare’s upcoming work in remodeling NHS systems for evidence protocols and clinical use of genetic tests
46:50 Closing remarks
Join Patrick Short and Professor Clare Turnbull, Professor in Translational Cancer Genetics at the Institute of Cancer Research, as they discuss polygenic risk scores and their application in healthcare. Delve into the complexities of predicting disease, the challenges of screening programs, and the potential impact of integrating genomics into healthcare systems. Discover the limitations and potential of polygenic risk scores and gain valuable insights into the future of personalized medicine.
0:00 Intro
1:00 Clare’s path to becoming a clinical geneticist and her research in uncovering genetic links to cancer
3:20 How do Polygenic Risk Scores help to predict disease, particularly breast cancer?
10:00 The influence of environmental and genetic effects on breast cancer presentation
11:30 Next clinical steps after determining genetic risk for breast cancer
17:30 How effective and accurate are polygenic risk scores in predicting various types of cancer, given the potential for false positives or negatives?
25:00 The potential for integrating genetic screenings and polygenic risk scores into early cancer diagnosis
27:20 How do monogenic risk scores like BRCA 1 and 2 fit into the paradigm of cancer research?
31:30 Using both monogenic and polygenic to explain population prevalence of disease
35:00 Integration of genomics and genetic screenings into the UK healthcare system
40:30 What comes after the genetic test? What is the use in identifying risk for a disease if nothing is subsequently done to prevent it?
44:50 Clare’s upcoming work in remodeling NHS systems for evidence protocols and clinical use of genetic tests
46:50 Closing remarks
In this episode, Patrick is joined by Dr. Mike Severino, CEO of Tessera Therapeutics and CEO-Partner of Flagship Pioneering. Join us as Mike walks us through Tessera’s approach to treating genetic diseases by rewriting bases, exons, or even whole genes with a novel approach called Gene Writing.
0:00 Intro
1:00 What prompted you to join Flagship Pioneering?
3:32 How is Flagship able to innovate and invent novel therapies in ways that Big Pharma companies may find difficult?
5:00 Introduction to gene writing and the role of Tessera Therapeutics
8:22 The current limitations and challenges of gene writing
10:22 Gene knockouts vs gene writing – which is more useful for genetic therapies?
12:30 Reasons why the liver the most commonly targeted organ for gene therapies
19:00 Lipid Nanoparticles and their role in gene writing
22:45 How do you guide mobile genetic elements to write genes in the intended location?
25:20 Development of gene writing technology since 2018
28:15 The implications of gene writing for diseases like PKU, Alpha-1 antitrypsin deficiency, sickle cell disease, and cancer
34:00 Next steps on the way to clinical trials
36:46 Using genomics and computational biology to guide measurable outcomes in drug discovery and development
40:15 Using gene writing to address rare developmental diseases
43:32 Closing remarks
In this episode, Patrick is joined by Dr. Mike Severino, CEO of Tessera Therapeutics and CEO-Partner of Flagship Pioneering. Join us as Mike walks us through Tessera’s approach to treating genetic diseases by rewriting bases, exons, or even whole genes with a novel approach called Gene Writing.
0:00 Intro
1:00 What prompted you to join Flagship Pioneering?
3:32 How is Flagship able to innovate and invent novel therapies in ways that Big Pharma companies may find difficult?
5:00 Introduction to gene writing and the role of Tessera Therapeutics
8:22 The current limitations and challenges of gene writing
10:22 Gene knockouts vs gene writing – which is more useful for genetic therapies?
12:30 Reasons why the liver the most commonly targeted organ for gene therapies
19:00 Lipid Nanoparticles and their role in gene writing
22:45 How do you guide mobile genetic elements to write genes in the intended location?
25:20 Development of gene writing technology since 2018
28:15 The implications of gene writing for diseases like PKU, Alpha-1 antitrypsin deficiency, sickle cell disease, and cancer
34:00 Next steps on the way to clinical trials
36:46 Using genomics and computational biology to guide measurable outcomes in drug discovery and development
40:15 Using gene writing to address rare developmental diseases
43:32 Closing remarks
0:00 Intro
0:45 The founding of BioTx.ai
4:35 How do algorithms for ‘causal inference’ work?
6:30 Modeling gene interactions for genetic disorders
8:35 How to predict gene interactions
10:30 What happens after identifying a potential gene variant or interaction?
14:35 How can you use machine learning to determine causal relationships between gene variants and disease?
17:30 Deconvoluting genes and traits, and their impacts on effect size
19:20 Key ingredients in determining causal relationships: data and computational power
21:10 Limitations of using machine learning to find genetic determinants of rare diseases
24:30 Predicting clinical outcomes with Biotx.ai
28:05 Machine learning enhances efficiency in the pre-clinical phase
29:40 Population genomics in Germany
32:50 Marco’s career decisions – starting a company vs. continuing in academia
35:50 The pros and cons of industry
38:10 The gaps in industry and academia
41:20 Closing remarks
0:00 Intro
0:45 The founding of BioTx.ai
4:35 How do algorithms for ‘causal inference’ work?
6:30 Modeling gene interactions for genetic disorders
8:35 How to predict gene interactions
10:30 What happens after identifying a potential gene variant or interaction?
14:35 How can you use machine learning to determine causal relationships between gene variants and disease?
17:30 Deconvoluting genes and traits, and their impacts on effect size
19:20 Key ingredients in determining causal relationships: data and computational power
21:10 Limitations of using machine learning to find genetic determinants of rare diseases
24:30 Predicting clinical outcomes with Biotx.ai
28:05 Machine learning enhances efficiency in the pre-clinical phase
29:40 Population genomics in Germany
32:50 Marco’s career decisions – starting a company vs. continuing in academia
35:50 The pros and cons of industry
38:10 The gaps in industry and academia
41:20 Closing remarks
Join Patrick in welcoming Dr. Bettina Lundgren, CEO of the Danish National Genome Center. Bettina is spearheading the development of personalised medicine in Denmark with a focus on integrating genome sequencing directly into the healthcare system. She is dedicated to fostering international collaboration in research and healthcare delivery. Tune in to learn about the one of the leading national scale genomics initiatives, and Bettina’s r insights on the future of personalised medicine!
0:00 Intro
0:56 Bettina’s path to genomics
1:47 Aspirations of the Danish National Genome Center
4:18 Comparing the Danish National Genome Center to other global genomics programs
8:10 Goal to sequence 60,000 whole genomes by 2024
11:40 The biggest challenges of integrating genomics with healthcare
15:30 Navigating the politics of privacy and data sharing
20:02 Complexities of sharing data across diverse regions and healthcare systems
23:28 Partnerships across borders: Sweden, Europe, and the world
28:10 Looking forward 10 years: strategies and novel developments in personalised healthcare
31:25 Final Thoughts
32:37 Outro
Join Patrick in welcoming Dr. Bettina Lundgren, CEO of the Danish National Genome Center. Bettina is spearheading the development of personalised medicine in Denmark with a focus on integrating genome sequencing directly into the healthcare system. She is dedicated to fostering international collaboration in research and healthcare delivery. Tune in to learn about the one of the leading national scale genomics initiatives, and Bettina’s r insights on the future of personalised medicine!
0:00 Intro
0:56 Bettina’s path to genomics
1:47 Aspirations of the Danish National Genome Center
4:18 Comparing the Danish National Genome Center to other global genomics programs
8:10 Goal to sequence 60,000 whole genomes by 2024
11:40 The biggest challenges of integrating genomics with healthcare
15:30 Navigating the politics of privacy and data sharing
20:02 Complexities of sharing data across diverse regions and healthcare systems
23:28 Partnerships across borders: Sweden, Europe, and the world
28:10 Looking forward 10 years: strategies and novel developments in personalised healthcare
31:25 Final Thoughts
32:37 Outro
In this milestone episode, we welcome Dr Matthew Hurles, geneticist and pioneer in the field of human genomics. Dr Hurles has dedicated his career to unravelling the secrets hidden within our DNA, as well as harnessing cutting-edge research to revolutionise our understanding of genetic disorders, human evolution, and the potential for personalised healthcare.
Join Patrick and Matt as they delve into the frontiers of genomic science, from the implications of newborn screenings to emerging technologies and the transforming role of researchers.
0:00 Intro
1:55 Genetics in the ’90s compared to genetics today
4:30 Work-life balance in science
8:00 Deciphering Developmental Disorders (DDD) study
13:10 New technologies in genome sequencing
14:45 How far are we from using next-generation sequencing as standard for diagnosing rare disease?
17:10 The Industrialization of genomics research
21:10 Will we move to a world where everyone is sequenced at birth?
25:20 Uses for cellular assays in healthcare and research
27:15 Bridging the gap between rare and common diseases
31:35 Birth cohorts and newborn screening studies
33:30 The power of early diagnosis and intervention with genomics
36:30 Open access databases
38:40 Advice for early-career researchers
41:20 Future directions for the Wellcome Sanger Institute
43:30 Applications of artificial intelligence and machine learning in genomics
45:30 Thank you
46:50 Outro
In this milestone episode, we welcome Dr Matthew Hurles, geneticist and pioneer in the field of human genomics. Dr Hurles has dedicated his career to unravelling the secrets hidden within our DNA, as well as harnessing cutting-edge research to revolutionise our understanding of genetic disorders, human evolution, and the potential for personalised healthcare.
Join Patrick and Matt as they delve into the frontiers of genomic science, from the implications of newborn screenings to emerging technologies and the transforming role of researchers.
0:00 Intro
1:55 Genetics in the ’90s compared to genetics today
4:30 Work-life balance in science
8:00 Deciphering Developmental Disorders (DDD) study
13:10 New technologies in genome sequencing
14:45 How far are we from using next-generation sequencing as standard for diagnosing rare disease?
17:10 The Industrialization of genomics research
21:10 Will we move to a world where everyone is sequenced at birth?
25:20 Uses for cellular assays in healthcare and research
27:15 Bridging the gap between rare and common diseases
31:35 Birth cohorts and newborn screening studies
33:30 The power of early diagnosis and intervention with genomics
36:30 Open access databases
38:40 Advice for early-career researchers
41:20 Future directions for the Wellcome Sanger Institute
43:30 Applications of artificial intelligence and machine learning in genomics
45:30 Thank you
46:50 Outro
Join us for EP99 of The Genetics Podcast as Patrick dives into the extraordinary career and work of Dr. Harold E Varmus, a Nobel laureate scientist, former director of the National Institutes of Health, president of Memorial Sloan Kettering Cancer Centre, and director of the National Cancer Institute.
Join Patrick and Harold as they navigate the complex landscape of cancer, from advancements that have revolutionized the field to diversity in cancer research and the Polyethnic-1000 Genome Project. This compelling episode is punctuated by Harold’s personal reflections, and invaluable learnings from his career.
1:27 Why a Beowulf quote made its way into Harold’s Nobel Prize acceptance speech
2:28 How it feels to hear you have won a Nobel Prize
4:04 How did fulfilling a national responsibility during the Vietnam War lead to a Nobel Prize
7:54 Areas of cancer research that are moving forward, and areas that are more stubborn
9:44 The formidable hurdle of metastasis
11:00 The educational power of COVID
12:33 Cancer and evolution: why is cancer so difficult?
14:50 Introducing the Polyethnic-1000 Genome Project
19:35 Working with WHO to ensure genomic technologies are accessible to all
23:03 What are the biggest blockers to the widespread adoption of genomics?
26:00 Context switching: From ‘deep’ science to stepping into the role of director
28:50 Learnings on how science is funded and coordinated
33:05 Discussing the allocation of funding: small grants Vs. large, coordinated efforts
36:16 Co-founding PLoS and PubMed Central
39:49 Accelerating the shift towards more open science
44:44 Just how close are we to curing cancer?
48:00 Studying cancer rates in mammalian species
Join us for EP99 of The Genetics Podcast as Patrick dives into the extraordinary career and work of Dr. Harold E Varmus, a Nobel laureate scientist, former director of the National Institutes of Health, president of Memorial Sloan Kettering Cancer Centre, and director of the National Cancer Institute.
Join Patrick and Harold as they navigate the complex landscape of cancer, from advancements that have revolutionized the field to diversity in cancer research and the Polyethnic-1000 Genome Project. This compelling episode is punctuated by Harold’s personal reflections, and invaluable learnings from his career.
1:27 Why a Beowulf quote made its way into Harold’s Nobel Prize acceptance speech
2:28 How it feels to hear you have won a Nobel Prize
4:04 How did fulfilling a national responsibility during the Vietnam War lead to a Nobel Prize
7:54 Areas of cancer research that are moving forward, and areas that are more stubborn
9:44 The formidable hurdle of metastasis
11:00 The educational power of COVID
12:33 Cancer and evolution: why is cancer so difficult?
14:50 Introducing the Polyethnic-1000 Genome Project
19:35 Working with WHO to ensure genomic technologies are accessible to all
23:03 What are the biggest blockers to the widespread adoption of genomics?
26:00 Context switching: From ‘deep’ science to stepping into the role of director
28:50 Learnings on how science is funded and coordinated
33:05 Discussing the allocation of funding: small grants Vs. large, coordinated efforts
36:16 Co-founding PLoS and PubMed Central
39:49 Accelerating the shift towards more open science
44:44 Just how close are we to curing cancer?
48:00 Studying cancer rates in mammalian species
In this episode, Patrick is joined by Alex Cagan, a Postdoctoral Fellow in the Cancer, Ageing and Somatic Mutation programme at the Wellcome Sanger Institute, specialising in evolutionary processes in somatic tissue. Tune in as Alex walks us through a fascinating new study, years in the making, looking at somatic mutation rates across 16 mammalian species, spanning 30-fold in lifespan and around 40,000-fold in body mass. This work sheds light on fundamental questions in cancer and ageing across the tree of life.
0:00 Intro
6:00 Collaborating with the London Zoo, and the challenges of sourcing tissue from long-living animals
9:06 Why are naked mole rats so important to the cancer and ageing community?
11:32 The scale and breadth of species sampled in the study
14:53 Is there a ceiling to how many mutations an organism can tolerate?
17:53 Why are intestinal crypts so effective for sequencing somatic mutations?
20:44 Key learnings from driving a 5-year study into somatic evolution
22:46 Are there really any “immortal” species, and what are they?
25:19 Why are cancer rates lower in larger species, and is this related to lower mutation rates, DNA error correction or both?
27:24 Investigating transmissible cancers in Chernobyl
29:40 Is cancer everywhere in the tree of life?
31:23 Alex talks about applying his talent for illustration to science
38:56 The Sanger Tree of Life program, the Darwin Tree of Life project, and the bright future ahead for research on somatic mutations
40:14 Outro
Find out more about the study: https://www.nature.com/articles/s41586-022-04618-z
In this episode, Patrick is joined by Alex Cagan, a Postdoctoral Fellow in the Cancer, Ageing and Somatic Mutation programme at the Wellcome Sanger Institute, specialising in evolutionary processes in somatic tissue. Tune in as Alex walks us through a fascinating new study, years in the making, looking at somatic mutation rates across 16 mammalian species, spanning 30-fold in lifespan and around 40,000-fold in body mass. This work sheds light on fundamental questions in cancer and ageing across the tree of life.
0:00 Intro
6:00 Collaborating with the London Zoo, and the challenges of sourcing tissue from long-living animals
9:06 Why are naked mole rats so important to the cancer and ageing community?
11:32 The scale and breadth of species sampled in the study
14:53 Is there a ceiling to how many mutations an organism can tolerate?
17:53 Why are intestinal crypts so effective for sequencing somatic mutations?
20:44 Key learnings from driving a 5-year study into somatic evolution
22:46 Are there really any “immortal” species, and what are they?
25:19 Why are cancer rates lower in larger species, and is this related to lower mutation rates, DNA error correction or both?
27:24 Investigating transmissible cancers in Chernobyl
29:40 Is cancer everywhere in the tree of life?
31:23 Alex talks about applying his talent for illustration to science
38:56 The Sanger Tree of Life program, the Darwin Tree of Life project, and the bright future ahead for research on somatic mutations
40:14 Outro
Find out more about the study: https://www.nature.com/articles/s41586-022-04618-z
In this episode, Patrick is joined by Cindy Lawley, Senior Director of Population Health at Olink Proteomics and co-host of the Proteomics in Proximity podcast. Cindy has worked with major population genomics programs, including the UK Biobank, to bring together proteomics, genomics, and deep phenotyping using the Olink platform.
Olink is one of the most promising proteomics technologies on the market, and the platform has been used in >1,000 publications, including landmark work in the UKBiobank to integrate genomics and proteomics.
The largest Olink assay currently covers around 3,000 proteins, and the scale continues to grow, while costs are decreasing, paving the way for larger integrated proteomic and genomic data sets in the future.
Join Cindy and Patrick for this 45-minute episode as they explore:
how population-scale proteomics is driving novel discoveries
different proteomics technologies, cost and throughput trajectories, and what is on the horizon
surprising findings from longitudinal sampling of proteins
And much more.
If you would like to hear more from Cindy, listen to the Proteomics in Proximity podcast when you follow the link below.
https://podfollow.com/1645900688
In this episode, Patrick is joined by Cindy Lawley, Senior Director of Population Health at Olink Proteomics and co-host of the Proteomics in Proximity podcast. Cindy has worked with major population genomics programs, including the UK Biobank, to bring together proteomics, genomics, and deep phenotyping using the Olink platform.
Olink is one of the most promising proteomics technologies on the market, and the platform has been used in >1,000 publications, including landmark work in the UKBiobank to integrate genomics and proteomics.
The largest Olink assay currently covers around 3,000 proteins, and the scale continues to grow, while costs are decreasing, paving the way for larger integrated proteomic and genomic data sets in the future.
Join Cindy and Patrick for this 45-minute episode as they explore:
* how population-scale proteomics is driving novel discoveries
* different proteomics technologies, cost and throughput trajectories, and what is on the horizon
* surprising findings from longitudinal sampling of proteins
And much more.
If you would like to hear more from Cindy, listen to the Proteomics in Proximity podcast when you follow the link below.
https://podfollow.com/1645900688
Food is medicine. And leveraging its power to heal isn’t a new concept.
In fact, roughly 50% of all small-molecule medicines are derived from nature.
But what if we could use AI to better understand the biology of the millions of molecules humans already consume? What if we could then apply this information to identify new treatments for chronic diseases?
This week, we’re welcoming the CEO of Montai Health, Margo Georgiadis, to the podcast to discuss their AI platform that uses literature and wet lab experiments to analyse “the most privileged chemistry on Earth” to find new treatments for chronic diseases.
Join Patrick and Margo for this hour-long episode, as they explore how Montai is leveraging technology to develop medicines based on the chemistry of food. From why ‘Anthromeolecules’ represent an abundant source of opportunities for drug discovery to the potential for AI to accelerate drug discovery and healthcare, this jam-packed episode celebrates the intersection of nature and technology.
After listening to this hour-long episode, you will:
understand Anthromolecules, and how the millions of molecules we already consume could be developed into new medicines
know how AI can be leveraged to build a ‘ChatGPT’ to learn the language of biology and chemistry
recognise Margo’s journey into biotech and healthcare, from her roots in the tech industry
Food is medicine. And leveraging its power to heal isn’t a new concept.
In fact, roughly 50% of all small-molecule medicines are derived from nature.
But what if we could use AI to better understand the biology of the millions of molecules humans already consume? What if we could then apply this information to identify new treatments for chronic diseases?
This week, we’re welcoming the CEO of Montai Health, Margo Georgiadis, to the podcast to discuss their AI platform that uses literature and wet lab experiments to analyse “the most privileged chemistry on Earth” to find new treatments for chronic diseases.
Join Patrick and Margo for this hour-long episode, as they explore how Montai is leveraging technology to develop medicines based on the chemistry of food. From why ‘Anthromeolecules’ represent an abundant source of opportunities for drug discovery to the potential for AI to accelerate drug discovery and healthcare, this jam-packed episode celebrates the intersection of nature and technology.
After listening to this hour-long episode, you will:
* understand Anthromolecules, and how the millions of molecules we already consume could be developed into new medicines
* know how AI can be leveraged to build a ‘ChatGPT’ to learn the language of biology and chemistry
* recognise Margo’s journey into biotech and healthcare, from her roots in the tech industry
Progress in AI is accelerating, and the potential in healthcare and precision medicine is enormous.
In 2019, we had the pleasure of speaking with Dr Eric Topol, author of ‘The Patient Will See You Now’ and ‘Deep Medicine’.
Eric has had an incredible career which has been largely focused on researching cardiovascular disease and heart attacks, both of which he worked on in the Cleveland Clinic and Scripps Institute.
Now, we’re reposting the interview as the conversation is more relevant than ever. Join Patrick and Eric as they discuss wireless medicine and the role of artificial intelligence and machine learning in medicine and healthcare.
Progress in AI is accelerating, and the potential in healthcare and precision medicine is enormous.
In 2019, we had the pleasure of speaking with Dr Eric Topol, author of ‘The Patient Will See You Now’ and ‘Deep Medicine’.
Eric has had an incredible career which has been largely focused on researching cardiovascular disease and heart attacks, both of which he worked on in the Cleveland Clinic and Scripps Institute.
Now, we’re reposting the interview as the conversation is more relevant than ever. Join Patrick and Eric as they discuss wireless medicine and the role of artificial intelligence and machine learning in medicine and healthcare.
“We’re pioneering the ability to detect genetic disease earlier, and actually intervene in a way that is going to help those patients.”
In this jam-packed 45-minute episode, we’re joined by Dr Paul Nioi, Vice President of Discovery and Translational Research at Alnylam Pharmaceuticals and Chair of the Founders Board for Our Future Health.
Join Patrick and Paul as they expose the two major reasons that 90% of clinical drug development fails, and why many believe that embedding genetics into target discovery and validation can increase the success rate of trials by 2-5 times.
They also deep-dive into:
the evolution of population genomics: from Iceland's DECODE to the UK Biobank
examples of the value of recontact-by-genotype studies in supporting safety studies for novel targets, evidenced by the recontact of an ultra-rare homozygous loss-of-function carrier of the gene HAO1
the next chapter in population genomics that’s pioneering the ability to detect genetic diseases earlier
the challenges of recontacting participants in biobanks and avoiding overwhelming the healthcare system, whilst responsibly handling patients’ sensitive data
Alnylam’s work to develop therapeutics for genetic diseases based on RNAi, the discovery that was awarded the Nobel Prize in Medicine or Physiology in 2006
Tune in to benefit from Paul’s invaluable insights and expertise, which are coloured with practical examples from his career throughout.
After listening to this 45 minute episode, you will:
recognise the role of genetics in supporting the safety and efficacy of novel targets in clinical development
understand the evolution of population genomics and what’s next
understand how RNAi works, and how it differs from gene editing and other forms of next-generation therapies
“We’re pioneering the ability to detect genetic disease earlier, and actually intervene in a way that is going to help those patients.”
In this jam-packed 45-minute episode, we’re joined by Dr Paul Nioi, Vice President of Discovery and Translational Research at Alnylam Pharmaceuticals and Chair of the Founders Board for Our Future Health.
Join Patrick and Paul as they expose the two major reasons that 90% of clinical drug development fails, and why many believe that embedding genetics into target discovery and validation can increase the success rate of trials by 2-5 times.
They also deep-dive into:
* the evolution of population genomics: from Iceland's DECODE to the UK Biobank
* examples of the value of recontact-by-genotype studies in supporting safety studies for novel targets, evidenced by the recontact of an ultra-rare homozygous loss-of-function carrier of the gene HAO1
* the next chapter in population genomics that’s pioneering the ability to detect genetic diseases earlier
* the challenges of recontacting participants in biobanks and avoiding overwhelming the healthcare system, whilst responsibly handling patients’ sensitive data
* Alnylam’s work to develop therapeutics for genetic diseases based on RNAi, the discovery that was awarded the Nobel Prize in Medicine or Physiology in 2006
Tune in to benefit from Paul’s invaluable insights and expertise, which are coloured with practical examples from his career throughout.
After listening to this 45 minute episode, you will:
recognise the role of genetics in supporting the safety and efficacy of novel targets in clinical development
understand the evolution of population genomics and what’s next
understand how RNAi works, and how it differs from gene editing and other forms of next-generation therapies
Access to genetic testing for patients with genetic diseases, such as ALS, can vary dramatically based on country and postcode.
For an ALS patient considering genetic testing in Canada, the reality of their federally-funded healthcare system is a far cry from the general perception.
In the US, genetic testing access and cost varies widely between community healthcare settings, and academic research centers.
And in the UK, accessibility to genetic testing can be a simple matter of geography.
In this webinar, Paul Wicks leads the discussion with Professor Ammar Al-Chalabi, Dr Patrick Short and Kristina Salmon on international perspectives on genetic testing for ALS. The lessons from this discussion apply not just to ALS, but the hundreds of other rare and common genetic diseases where access to genetic testing is a challenge for patients, healthcare providers, and researchers.
From changing drug pricing legislation to AI breakthroughs, in the first episode of The Genetics Podcast for 2023, Patrick makes four predictions for the biggest stories of 2023. We will check in at the end of the year to see how he did!
For those interested in doing further reading, any resources mentioned during the podcast are linked below.
https://www.wsj.com/articles/the-inflation-reduction-act-killing-potential-cures-pharmaceutical-companies-treatment-patients-drugs-prescriptions-ira-manufacturers-1166750829
If there’s one genetics podcast episode to listen to this year, it’s this one.
In the final episode of The Genetics Podcast for 2022, we’re joined by Dr Veera Rajagopal, who is known as the ‘GWAS storyteller’ on Twitter for his prolific threads breaking down the latest findings in genetics.
Join Patrick and Veera as they review the most exciting stories in genetics this year, from the impact the bubonic plague has had on human evolution and our modern day lives, to looking forward and celebrating more diverse, representative populations in genetics research.
For those interested in doing further reading, Veera has kindly provided links to all the papers he references during this podcast episode, and we encourage you to follow him on Twitter @doctorveera and substack (https://gwasstories.substack.com/) for regular posts on the latest in genetics and genomics.
Links to the papers discussed in the episode:
Mind blowing genetics
Natural selection in humans at speed never seen before – black death story (https://www.nature.com/articles/s41586-022-05349-x)
Hypermutated human genomes - first glimpse into the genetic and environmental factors that accelerate germline mutation rates (https://www.nature.com/articles/s41586-022-04712-2)
A new monogenic cause for obesity--a structural variant that causes a skin specific gene to express in every cell of the body (https://www.nature.com/articles/s42255-022-00703-9)
Milestone achievements
Remarkable moment in the human genetics—saturated GWAS of height in 5.4 million individuals (https://www.nature.com/articles/s41586-022-05275-y)
Looking beyond “exomes” – first population scale WGS study in the UK Biobank—what to expect as move from exomes to genomes? (https://www.nature.com/articles/s41586-022-04965-x)
Proteomics at scale—another successful industry-UKB Biobank collaboration to establish world’s largest proteomics resource (https://www.biorxiv.org/content/10.1101/2022.06.17.496443v1)
A step in the right direction
150,000 exomes from Mexico - first large scale exome database for a non-European population (https://www.biorxiv.org/content/10.1101/2022.06.26.495014v1)
First glimpse into the genetics of age of onset T2D in Indian population (https://www.biorxiv.org/content/10.1101/2022.09.14.508063v1)
Shedding more lights on the PRS barriers to non-European ancestry (https://www.nature.com/articles/s41591-022-01835-x)
"If someone tells you it’s not possible, then it’s interesting" according to Treeway Chief Development Officer Ronald van der Geest.
Founded in 2012 by two ALS patients who refuse to take their diagnoses lying down, Treeway develops novel treatments for ALS, Alzheimer's disease, and other neurodegenerative diseases.
Join Patrick and Ronald in our latest podcast episode as they explore Treeway’s roots, the four major disciplines required for successful development of novel treatments, discuss the landscape of ALS treatment options in 2022, and celebrate the power of a small group of people, smart design and resilience.
"If someone tells you it’s not possible, then it’s interesting" according to Treeway Chief Development Officer Ronald van der Geest.
Founded in 2012 by two ALS patients who refuse to take their diagnoses lying down, Treeway develops novel treatments for ALS, Alzheimer's disease, and other neurodegenerative diseases.
Join Patrick and Ronald in our latest podcast episode as they explore Treeway’s roots, the four major disciplines required for successful development of novel treatments, discuss the landscape of ALS treatment options in 2022, and celebrate the power of a small group of people, smart design and resilience.
This week Patrick is joined by Baroness Nicola Blackwood, the first female MP for Oxford. She was elected by MPs of all parties to Chair the Commons Science and Technology Select Committee. Baroness Blackwood remains the youngest-ever select committee chair in British history and the only woman to have held that position. Nicola is chair of Genomics England and has been a champion for genomics and the life sciences in UK policy. This episode covers the past, present, and future of genomics in healthcare in the UK and some of the exciting initiatives on the horizon, including whole genome sequencing in newborn screening.
In this episode, guests Christine Ward, VP and Head of Oncology and Cell Therapy Precision & Translational Medicine at Takeda and Geoff Oxnard, Thoracic Oncologist and VP of Foundation Medicine talk to Patrick about Next Generation Sequencing (NGS) in precision oncology. Also covered are the impact of large-scale genetic datasets on patient diagnosis, data consortiums enabling pioneering discoveries, and the recent partnership between Takeda and Foundation Medicine.
In this episode, guests Christine Ward, VP and Head of Oncology and Cell Therapy Precision & Translational Medicine at Takeda and Geoff Oxnard, Thoracic Oncologist and VP of Foundation Medicine talk to Patrick about Next Generation Sequencing (NGS) in precision oncology. Also covered are the impact of large-scale genetic datasets on patient diagnosis, data consortiums enabling pioneering discoveries, and the recent partnership between Takeda and Foundation Medicine.
This episode, our Partnerships Lead, Lindsey Wahlstrom-Edwards dove into the importance of representation in genetic research, covering the techniques used by leading organisations to make research more accessible and representative. Lindsey is joined by
Listen to speakers Natasha Ratcliffe of COUCH Health, Del Smith of Acclinate and Ebony Scott of Lupus Research Alliance to learn how to make sure your precision medicine study is inclusive by design.
This episode, our Partnerships Lead, Lindsey Wahlstrom-Edwards dove into the importance of representation in genetic research, covering the techniques used by leading organisations to make research more accessible and representative. Lindsey is joined by
Listen to speakers Natasha Ratcliffe of COUCH Health, Del Smith of Acclinate and Ebony Scott of Lupus Research Alliance to learn how to make sure your precision medicine study is inclusive by design.
This week, Patrick speaks to Heidi Rehm, Chief Genomics Officer at Massachusetts General Hospital. Heidi is a leader in defining standards for the interpretation of sequence variants and is a principal investigator for Clinical Genome Resource, otherwise known as ClinGen. ClinGen provides free and publicly accessible resources to support gene and variant interpretation. Heidi also co-leads the Matchmaker Exchange, aiding gene discovery for rare diseases.
This week, Patrick speaks to Heidi Rehm, Chief Genomics Officer at Massachusetts General Hospital. Heidi is a leader in defining standards for the interpretation of sequence variants and is a principal investigator for Clinical Genome Resource, otherwise known as ClinGen. ClinGen provides free and publicly accessible resources to support gene and variant interpretation. Heidi also co-leads the Matchmaker Exchange, aiding gene discovery for rare diseases.
Dr Jessica Kissinger and her collaborators run some of the world's largest databases of multi-omic data from eukaryotic parasites. In this episode, we explore major findings in the field and Dr Kissinger's vision of large-scale interoperable datasets driving novel discoveries. Plus, Dr Kissinger shares her recent and personal experience of diagnosis with a rare disease, Ehlers-Danlos Syndrome, that puts everything into perspective.
Dr Jessica Kissinger and her collaborators run some of the world's largest databases of multi-omic data from eukaryotic parasites. In this episode, we explore major findings in the field and Dr Kissinger's vision of large-scale interoperable datasets driving novel discoveries. Plus, Dr Kissinger shares her recent and personal experience of diagnosis with a rare disease, Ehlers-Danlos Syndrome, that puts everything into perspective.
Doctors have been transplanting organs for decades, but can we transplant reprogrammed stem cells to rejuvenate the human body? This week Patrick discusses transcriptional reprogramming, and bit.bio's opti-ox technology that has the potential to create every cell type and help kickstart a cell therapy revolution. With Mark Kotter Ph.D., neurosurgeon, and CEO and Founder of bit.bio.
Doctors have been transplanting organs for decades, but can we transplant reprogrammed stem cells to rejuvenate the human body? This week Patrick discusses transcriptional reprogramming, and bit.bio's opti-ox technology that has the potential to create every cell type and help kickstart a cell therapy revolution. With Mark Kotter Ph.D., neurosurgeon, and CEO and Founder of bit.bio.
About this Episode:
This week’s guest, Daphne Koller, is the Founder and CEO of Insitro - a company shifting the paradigm of new drug discovery using predictive models. Patrick and Daphne talk about why she founded Insitro, how to create unified datasets, and the importance of being realistic about drug discovery.
About this Episode:
This week’s guest, Daphne Koller, is the Founder and CEO of Insitro - a company shifting the paradigm of new drug discovery using predictive models. Patrick and Daphne talk about why she founded Insitro, how to create unified datasets, and the importance of being realistic about drug discovery.
This week’s guest, Daniel MacArthur, is the Director of the Centre for Population Genomics at the Garvan Institute of Medical Research and Murdoch Children's Research Institute. Daniel and Patrick discuss the impact of large-scale genetic datasets on patient diagnosis and treating genetic subtypes of disease, the power of big data and consortiums to enable pioneering discoveries, and give advice for early career researchers thinking about the dichotomy between industry and academia.
This week’s guest, Daniel MacArthur, is the Director of the Centre for Population Genomics at the Garvan Institute of Medical Research and Murdoch Children's Research Institute. Daniel and Patrick discuss the impact of large-scale genetic datasets on patient diagnosis and treating genetic subtypes of disease, the power of big data and consortiums to enable pioneering discoveries, and give advice for early career researchers thinking about the dichotomy between industry and academia.
This week Patrick is joined by Dietrich Stephan, Founder and CEO of NeuBase Therapeutics. They discuss how to overcome the challenges of ’un-druggable’ diseases, how Neubase is cracking the druggable genome using its scalable technology, and how biotech companies are innovating to secure the investment needed to accelerate precision medicine during a challenging period for the industry.
This week Patrick is joined by Dietrich Stephan, Founder and CEO of NeuBase Therapeutics. They discuss how to overcome the challenges of ’un-druggable’ diseases, how Neubase is cracking the druggable genome using its scalable technology, and how biotech companies are innovating to secure the investment needed to accelerate precision medicine during a challenging period for the industry.
From decoding the genetics of rare disease using computational methods, to understanding the non-coding and 'near-coding' genome, this week Patrick is joined by Nicky Whiffin, Group Leader at the Wellcome Centre for Human Genetics and Sir Henry Dale Fellow at the University of Oxford. They discuss what it's like to create a brand new research group and the potential impact of whole genome sequencing on diagnosis rates.
From decoding the genetics of rare disease using computational methods, to understanding the non-coding and 'near-coding' genome, this week Patrick is joined by Nicky Whiffin, Group Leader at the Wellcome Centre for Human Genetics and Sir Henry Dale Fellow at the University of Oxford. They discuss what it's like to create a brand new research group and the potential impact of whole genome sequencing on diagnosis rates.
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