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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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A Leicester Tigers fans’ podcast. Unofficial and probably ill-informed, Mike and Elliott bring you a weekly dose of match reviews, previews, general chat and wildly optimistic predictions. Follow on Twitter at: @rollingmaulpod or email us at therollingmaul@outlook.com
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0:00 Introduction 1:40 A recurrent de novo mutation in a noncoding region of a small nucleolar RNA gene that has been identified as one of the most common causes of neurodevelopmental disorders This pathogenic variant escaped notice for years because it was not located in a protein coding region of the genome It now shows potential as a target for …
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0:00 Intro to The Genetics Podcast 01:00 Welcome to Jakob and background on Pheiron 02:14 What made Jakob decide to start Pheiron, what the company does, and how his scientific background inspired him to found a start-up 5:24 Jakob’s excitement and inspiration around the power and potential of machine learning 07:07 Cardiology and heart failure as …
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0:00 Introduction 1:40 Andrea’s background and how she got into the field of genetics, neuroimaging, and metabolic disorders 4:00 Insights into Andrea’s clinical practice, including the diverse families and patients she serves and her approach to clinical decision-making 6:30 How genetics and genomics have changed the diagnostic journey in the last…
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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…
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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…
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Mike and Elliott fire up the dreaded "emergency podcast" klaxon and awake from their peacefully chaotic summer slumbers to react to the stunning news that Dan McKellar has left the Tigers "by mutual consent". We look at whether or not it's the right call, the bizarre timing of the announcement and who is likely to step into the breach. Plus we chat…
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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…
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With Jess recovered from jet lag and Jacob recovered from a post-exam Otley Run, the two JBs are back for one final episode of Season 1 to do an End of Season Review. We briefly review the last game of the season against Exeter Chiefs before announcing our coveted, no-expense-spared, highly prized LTW Fancast End of Season Awards. We then debate on…
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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…
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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…
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Jacob is once again joined by the wonderful Alex Bugg to process a sad 24 hours for the club, in which the team yet again failed to turn up at home followed by the news on Sunday morning that Vicky MacQueen will be departing the club at the end of the season. After giving a cathartic review of the game, and paying tribute to Vicky as well as recent…
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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…
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With Jess dialling in with voice notes from New Zealand reacting to a sensational win by Canada over the Black Ferns and positives from Tigers' defeat to the Bears, Jacob is pulled out of his deadline slumber by being joined by the wonderful Alex Bugg to co-host. We go over some of the positives from the Bristol game, especially getting that try-sc…
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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…
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With Jess ready to jet off to New Zealand and Jacob on the brink of final year uni deadlines, we still manage to cobble together a podcast episode that gives the illusion of preparation. We go over the Quins game and talk about negatives but also the big positive of Celia Quansah’s long awaited debut for the club. In the news, we welcome the news a…
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Mike and Elliott endure a review of yet another loss as the wheels sadly come off for this season, but as always we try to find some rational reasons as to why and find some positives...even if it looks like they will only be in play next season. We look forward to a last hurrah for some club icons who will sadly be leaving the club after facing Ex…
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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…
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France v England Review and Quins (a) Preview After a two week break that seems like forever, Jess and Jacob are back to herald the return of the PWR which is back after the Six Nations break. We announce the winner of the Fantasy League, chat about Pac4 and our North American Tigers contingent, and also pause to reflect on negative experiences and…
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Mike and Elliott enjoy the positivity brought to the club by a youthful Tigers XV as they put away an experienced Georgia Black Lion side in an exhibition game and ask the key questions - who is the star of the future, if not now, and whose morale can they damage with another bad nickname? We also look forward to the dreaded Sale away fixture, whic…
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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…
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We were toying with the title "we hate rugby" given the sickening feeling of throwing away a 19 point lead against Bristol, but thankfully Leicester legend Richard Cockerill stops by to tell us all about his Georgian rugby project with the national side and their franchise, Black Lion, as they come to town for a friendly on Friday night. We do of c…
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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…
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The release of Taylor’s new album is feeling very apt right now, as despite the performances of our Six Nations gals and Leicester City having a superb weekend, we struggle to find the positives in a tough weekend for Leicester Tigers. However, positives we will find! So listen in for the usual mix of catharsis, hope and a rant at our season being …
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Mike and Elliott drag themselves in front of the mic to chat about a crushing loss away at Northampton, a defeat that may spell the end of Tigers' playoff hopes. As always, we try to find some reason and some positives in the performance, before picking ourselves back up to have a chat to old mate Joe Heyes and to get behind the boys ahead of a tas…
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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…
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Leicester Tigers Women were back in action finally the weekend just gone after six weeks with a 19-33 loss to Quins at home, Jacob is joined by superfan and listener Max Kirby to chat about the game. We then go back to the Six Nations, pay reverence to Meg Jones kick pass and get worried about England’s discipline, as well as chat about the Lions i…
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Mike and Elliott are joined by Daily Telegraph journalist Charlie Morgan as we prepare for a crucial fixture at Franklins Gardens against Northampton Saints. We look at Tigers' chances against a team in (begrudgingly) red hot form, look for droplets of hope to cling on to and, crushingly, say goodbye to some pod favourites after Tigers announced th…
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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…
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Feeling fresh as a daisy* after celebrating his 21st birthday Jacob joins Jess for Episode No. 18. With a brief overlook at the limited women’s rugby that took place at the weekend, we take this episode as an opportunity to have a frank, honest and nuanced debate about some of the big news stories in rugby at the moment, celebrating the Return of t…
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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…
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Returning from the other side filling in for Elliott on the Rolling Maul, Jess manages to talk even more about scrums with Jacob as we delve into Round 2 of the Women’s Six Nations (basically gloating about Meg Jones and Elis Martin, so standard LTW Fancast format at this point) and the USA’s victory in a friendly over South Africa. With not much w…
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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…
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Jess and Jacob are back to gloat about the performances of Tigers internationals (unfortunately no Mike Cooper impression of Tiger Watch was made) in the opening weekend of the Women’s Six Nations before having a look at the stakes of the Fantasy League. We then start the build-up to Tigers return to action on the 13th April at home against Quins i…
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Mike and Elliott endure talking about another defeat to Gloucester in the Cheese Derby / Slater Cup and ponder what it means for Tigers' playoff hopes. We search for some positives before looking ahead to a tricky fixture away at Newcastle with their pesky, gobby coach - Mr Steve Diamond.By Mike and Elliott
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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…
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After a couple of weeks’ hiatus, Jess and Jacob are finally back to discuss the Saracens away game as part of the SuperPWR weekend, in which we give our two pennies worth on the Poppy Cleall ban. With the domestic season on a break, our attention turns to the Six Nations, where we poorly defend our English focus despite having our Scottish Tigers c…
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Mike and Elliott bemoan a crushingly disappointing display that saw a chance of silverware slip away at Kingsholm, before looking forward to an immediate chance of revenge in the league at home against Gloucester. Plus, we look at 3 rumoured-but-soon-to-be-confirmed signings and get a wee bit excited about what they have to offer.…
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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…
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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 …
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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…
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After a long weekend of a LOT of rugby to get over Friday night’s disappointment of a tough and (surprising) defeat at home to Mattioli Woods Welford Road, Jess and Jacob are here to offer listeners some catharsis, as well as digressions on the lore of Jacob’s lucky socks, and have a good natter as to what the club can be doing to improve promoting…
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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…
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Giddiness and excitability are almost at an all-time high as we are joined by club’s mega superstar Magic Meg Jones for a quick chat on the amazing growth this team has undergone this season. We chat about the season ticket news for the 24/25 season and quickly cheer ourselves back up with the news that 5 Tigers players have been called up to Scotl…
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