Bettina Mitchell public
[search 0]
More
Download the App!
show episodes
 
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
  continue reading
 
Loading …
show series
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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 …
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
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…
  continue reading
 
In this episode of The Genetics Podcast, we welcome Dr. Jason, founder and CEO of Empress Therapeutics, a Flagship Pioneering company. Join us as we discuss how human genetics can identify small molecules with therapeutic potential that are already created by our bodies, paving the way for faster discovery of new medicines. Summary: 0:00 Intro 1:20…
  continue reading
 
This week on The Genetics Podcast Patrick is joined by David Ochoa, Platform Coordinator at Open Targets. They discuss how the Open Targets platform is enabling game-changing collaboration between academic research and big pharma. Working with partners including Sanofi, GlaxoSmithKline, Bristol Myers Squibb, Genentech and Pfizer, Open Targets power…
  continue reading
 
In this episode of The Genetics Podcast, we welcome Dr. James Field, founder and CEO of LabGenius. Join us as we delve into LabGenius' cutting-edge approach that utilises machine learning, artificial intelligence, and sophisticated robotics to advance antibody discovery and drug development. As a bonus, learn about James’ path from scientist to CEO…
  continue reading
 
On this episode of The Genetics Podcast we welcome Dr. Barbara Kraatz Fortini, Associate Professor of Genetics at Keck Graduate Institute (KGI). Tune in to learn about Barbara's research on non-coding variants in colorectal cancer and the interplay between genetics and the environment on lifetime cancer risk. As the Program Director for the MS in H…
  continue reading
 
This week, we’re re-sharing one of our favorite episodes from the early days of The Genetics Podcast - one that many newer listeners may not have heard! Tune in as Professor Sir Rory Collins, Founder and Chief Executive of the UK Biobank, talks to us about the origins and evolution of this world-changing project that has catalysed a wave of new dis…
  continue reading
 
In this episode of The Genetics Podcast, we're joined by Dimitar Tonev, an experienced drug development consultant specialising in Hepatology and Virology. Tune in to discuss the recent reclassification of Non-alcoholic Steatohepatitis (NASH) to Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD), and the complexities of identifying tr…
  continue reading
 
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, prec…
  continue reading
 
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 …
  continue reading
 
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 ther…
  continue reading
 
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 hea…
  continue reading
 
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 Intro1:00 What prompted you to join Flagship Pion…
  continue reading
 
0:00 Intro0:45 The founding of BioTx.ai4:35 How do algorithms for ‘causal inference’ work?6:30 Modeling gene interactions for genetic disorders8:35 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 varian…
  continue reading
 
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 i…
  continue reading
 
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 …
  continue reading
 
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 com…
  continue reading
 
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 …
  continue reading
 
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 th…
  continue reading
 
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 dis…
  continue reading
 
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 …
  continue reading
 
“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 Patric…
  continue reading
 
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 c…
  continue reading
 
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…
  continue reading
 
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 sto…
  continue reading
 
"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 lat…
  continue reading
 
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 Genomic…
  continue reading
 
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 diagnos…
  continue reading
 
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…
  continue reading
 
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 v…
  continue reading
 
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 diagnosi…
  continue reading
 
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., neurosurgeo…
  continue reading
 
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.…
  continue reading
 
Loading …

Quick Reference Guide