Podcasts about haematology

Lydia Scarfò is a Physician Scientist at the B-cell Neoplasia Unit and an Assistant Professor at Università Vita-Salute San Raffaele, Milan, Italy.   She is involved in both clinical and pre-clinical studies, including being a co-investigator in over 20 clinical trials in haematological malignancies, including chronic lymphocytic leukaemia.  Timestamps:  0:00 – Introduction  1:14 – Quickfire questions  7:31 – Haematology inspiration  9:08 – STIL loss  11:42 – Splenic marginal zone lymphoma  13:03 – Novel targeted therapies for chronic lymphocytic leukaemia  17:35 – Covalent BTK inhibitors   19:30 – Chemo-free approach for hairy cell leukaemia  22:20 – Recent advances, challenges, and opportunities  25:58 – Three wishes 

Drs. Lipsky and Allan discuss the emerging role of immunotherapy in the management of patients with CLL, including CAR T-cell therapy and bispecific antibodies.

Amy MacIver is joined by Professor Elizabeth Mayne, a specialist haematologist and immunopathologist at the University of Cape Town, to unpack new research revealing how our immune system is influenced by light. A recent study from the University of Auckland found that neutrophils — the body’s most abundant white blood cells — are more effective at killing bacteria during the day, thanks to an internal, light-sensitive circadian clock. Presenter John Maytham is an actor and author-turned-talk radio veteran and seasoned journalist. His show serves a round-up of local and international news coupled with the latest in business, sport, traffic and weather. The host’s eclectic interests mean the program often surprises the audience with intriguing book reviews and inspiring interviews profiling artists. A daily highlight is Rapid Fire, just after 5:30pm. CapeTalk fans call in, to stump the presenter with their general knowledge questions. Another firm favourite is the humorous Thursday crossing with award-winning journalist Rebecca Davis, called “Plan B”. Thank you for listening to a podcast from Afternoon Drive with John Maytham Listen live on Primedia+ weekdays from 15:00 and 18:00 (SA Time) to Afternoon Drive with John Maytham broadcast on CapeTalk https://buff.ly/NnFM3Nk For more from the show go to https://buff.ly/BSFy4Cn or find all the catch-up podcasts here https://buff.ly/n8nWt4x Subscribe to the CapeTalk Daily and Weekly Newsletters https://buff.ly/sbvVZD5 Follow us on social media: CapeTalk on Facebook: https://www.facebook.com/CapeTalk CapeTalk on TikTok: https://www.tiktok.com/@capetalk CapeTalk on Instagram: https://www.instagram.com/ CapeTalk on X: https://x.com/CapeTalk CapeTalk on YouTube: https://www.youtube.com/@CapeTalk567 See omnystudio.com/listener for privacy information.

Rafael Fonseca is a distinguished Haematologist at Mayo Clinic, specialising in multiple myeloma and related plasma cell disorders. He earned his medical degree at Universidad Anáhuac in Mexico, and went on to complete his residency in Internal Medicine at the University of Miami, Florida, USA followed by a Hematology and Oncology fellowship at Mayo Clinic in Rochester, Minnesota, USA.     Timestamps  01:44 – Quickfire questions  07:25 – CAR-T cell therapy  10:48 – Anti-CD38 antibodies  13:31 – Minimal residual disease  14:30 – Bispecific antibodies  15:31 – Antibody-drug conjugates  19:04 – ASCO 2025  21:24 – Genetic discoveries  26:28 – Fonseca's three wishes 

In this soul-nourishing episode, we explore the transformative power of music therapy with Tara Del Borrello, a Registered and Neurologic Music Therapist and the founder of Sol Music Therapy. Tara specialises in paediatric healthcare, supporting infants through to adolescents of all abilities—including children with developmental, neurological, and mental health needs, as well as those in oncology and end-of-life care.Whether your child has additional needs or you're simply looking for more meaningful ways to connect at home, Tara offers a wealth of practical tools, heartfelt stories, and professional insights into how music can become a powerful therapeutic tool for families.

Welcome to our new mini-series on research capacity strengthening, produced in partnership with the Centre for Capacity Research at the Liverpool School of Tropical Medicine. In this first episode, we explore the design of a Research Capacity Strengthening (RCS) component within an implementation research project, and why it is crucial for sustainable, patient-centred healthcare. Our conversation draws insights from those actively embedding RCS into their work, demonstrating how improving research skills and systems drives real impact in global health.In this episode:Dr. Justin Pulford - Reader at the Centre for Capacity Research, Liverpool School of Tropical Medicine.Dr. Justin Pulford is Deputy Head of the Centre for Capacity Research (CCR) at the Liverpool School of Tropical Medicine (LSTM). A behavioural scientist by training, he has extensive experience developing, implementing, and evaluating research and health systems strengthening initiatives across sub-Saharan Africa and the South Pacific. Dr Pulford also convenes the ‘TROP 703: Public Health Programmes, Policies and Strategies' module for LSTM's MPH programme. Professor Obiageli Nnodu - Co-lead of the PACTS programme, University of Abuja.Professor Obiageli Nnodu is Professor of Haematology and Blood Transfusion at the University of Abuja, Nigeria, and Director of its Centre of Excellence for Sickle Cell Disease Research and Training. She leads multiple NIH-funded sickle cell projects and chairs Africa's largest SCD network. Professor Nnodu also advises the Nigerian government on non-communicable diseases and serves on WHO AFRO committees dedicated to improving sickle cell care.Professor Alex Osei-Akoto - Kwame Nkrumah University of Science and Technology, GhanaProfessor Alex Osei-Akoto is Principal Investigator for PACTS in Ghana. A Professor of Child Health at Kwame Nkrumah University of Science and Technology (KNUST) and Consultant Paediatrician at Komfo Anokye Teaching Hospital, he has focused on sickle cell disease for over two decades. Professor Osei-Akoto led key newborn screening initiatives, advised Ghana's Ministry of Health on SCD, and co-authored numerous publications. He now spearheads PACTS implementation in Ghana, building on his extensive clinical and research leadership in paediatric haematology.Dr. Catherine Chunda-Liyoka - University of ZambiaDr. Catherine Chunda-Liyoka is Head of the Paediatric Haematology Department at Zambia's University Teaching Hospitals–Children's Hospital. She provides specialised care in sickle cell disease, haemophilia, aplastic anaemia, HIV, and TB, while leading multiple research initiatives. As an Honorary Lecturer at the University of Zambia and an Honorary Fellow at LSTM, she mentors health workers nationwide. Dr. Chunda-Liyoka also advises the Zambian Ministry of Health on paediatric haematology and infectious diseases, and plays a key role in major SCD networks—including SPARCO and PACTS—to strengthen national guidelines and clinical practices.Useful linksCentre for Capacity Research | LSTMPatient-centred sickle cell disease management in sub-Saharan Africa (PACTS) | LSTMWant to hear more podcasts like this?Follow Connecting Citizens to Science on your usual podcast platform or YouTube to hear more about current research and debates within global health.The podcast cuts across disciplines, including health systems strengthening, gender and intersectionality, tropical diseases (NTDs, TB, Malaria), maternal and child healthcare (antenatal and postnatal care), mental...

Klinisch Relevant ist Dein Wissenspartner für das Gesundheitswesen. Drei mal pro Woche, nämlich dienstags, donnerstags und samstags, versorgen wir Dich mit unserem Podcast und liefern Dir Fachwissen für Deine klinische Praxis. Weitere Infos findest Du unter https://klinisch-relevant.de

Professor Nick Gottardo walks us through medulloblastomas - a comprehensive master class for clinicians and researchers.  Expect to learn about early signs and symptoms, diagnosis, treatment and prognosis. Dr Nick breaks this down beautifully.What was really clear throughout our discussion was that collaboration is key. Given the incidence of medulloblastomas and the specific subtypes that fall within this category, it would not be possible to develop effective treatments that minimise detrimental side effects without coming together with centres across the world.This episode is truly special so if you want to know the current state of the evidence when it comes to treating medulloblastomas - this is a must listen episode.

Fitness trackers at the ready! Join James Gallagher at Cardiff Science Festival as he runs through the ways wearable tech is making an impact on health and how it might shape the future of medicines and care. With him are Dr Sanne Lugthart, Haematology consultant at the University Hospital of Bristol and Weston NHS Foundation Trust. She's pioneering using wearables and an app to track pain in people who suffer from sickle cell disease. Also on the panel is Professor Kathryn Peall who is Personal Chair, Division of Psychological Medicine and Clinical Neurosciences at Cardiff University. Kathryn tells James all about working with data from the UK Biobank to test if wearables could predict Parkinson's disease. She's also developing 80s-style headbands that could help take hospital grade sleep monitoring to the comfort of the bedroom. And, running experiments with the audience and on his skydiving assistant Danni, James is also joined by Damian Bailey, Professor of Physiology and Biochemistry from the University of South Wales.Presenter: James Gallagher Producers: Tom Bonnett and Hannah Robins Production Co-ordinator: Ishmael Soriano Editor: Colin Paterson

In this episode of the Clinical Update podcast, Dr Sarah Bull talks to MIMS Learning editor Pat Anderson about her experience of running a diagnostic clinic for non-site specific symptoms suggestive of cancer.She describes how GPs make referrals to the clinic, what happens there and how the clinic can speed up cancer diagnosis. Through case studies, she presents learning points for GPs on when to consider referral to non-site-specific diagnostic services, and how to prevent patients from `falling through the net'.Educational objectivesAfter listening to this podcast, healthcare professionals should be better able to:Recall why non-site-specific services are importantUnderstand how to make a referral and which tests should be performed beforehandRecall on what happens in the clinic Reflect on the case studies presented You can access the website version of this podcast on MIMS Learning to make notes for your appraisal. MIMS Learning offers hundreds of hours of CPD for healthcare professionals, along with a handy CPD organiser.Please note: this podcast is presented by medical editors and discusses educational content written or presented by doctors, nurses and other healthcare professionals on the MIMS Learning website and at live events.Resources from MIMS LearningNHS England's Professor Peter Johnson on optimising early cancer diagnosis3 key pieces of the primary care puzzle around earlier cancer diagnosisColorectal cancer: clinical reviewOther resourcesNorth West London Integrated Care System. Haematology guidelines. Accessed 13 January 2025.Cancer Research UK. Health professional. Accessed 13 January 2025.Macmillan Cancer Support. 10 top tips for healthcare professionals. Accessed 13 January 2025.MIMS LearningRegister for a free healthcare professional account Hosted on Acast. See acast.com/privacy for more information.

Join Kristin as she chats with Dr Gaurav Sutrave to chat about emergening treatments for fungal infections.  Gaurav is a Staff Specialist Haematologist and Transplant and Cell Therapies Physician at Westmead Hospital, as well as the Medical Director for the Westmead T cell Therapies Laboratory.

Wessex LMCs Joint CEO, Dr Andy Purbrick, is joined by Dr Jason Mainwaring, Consultant Haematologist to discuss top tips on dealing with haematology in General Practice. As referenced in this discussion, please see Jason's document covering common advice and guidance for GPs here: HAEMATOLOGY GP ADVICE AND GUIDANCE 2024.pdf

Authors Gloria Iacoboni and María Pérez Raya outline the management of a patient receiving Chimeric antigen receptor (CAR) T-cell therapy for relapsed/refractory (r/r) diffuse large B cell lymphoma (DLBCL). CAR T-cell therapy is effective in the treatment of patients with DLBCL, even those with high-grade disease. However, it has a unique safety profile, including cytokine-release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS), and robust management of these events are important to maximize benefits. This vodcast audio is published open access in Oncology and Therapy as a vodcast article with visual elements and is fully citeable. You can access the original published vodcast article through the Oncology and Therapy website and by using this link: https://link.springer.com/article/10.1007/s40487-024-00319-x. All conflicts of interest can be found online. This vodcast audio is intended for medical professionals. Open Access This podcast is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The material in this podcast is included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/.

Today is a first for the podcast - we're using a case study to discuss how we can provide even better care to our haematology patients! From performing initial diagnostic tests to running a blood donation and transfusion and everything in between, we'll break it all down in this episode - so you can walk away and give confident care to your own haematology patients. ---

Starting in April 2025, changes to MediShield Life will mean higher claim limits and premiums to keep up with increasing healthcare costs. To help with the added costs, the government is providing S$4.1 billion in subsidies and MediSave top-ups over three years. These adjustments aim to keep MediShield Life sustainable and comprehensive for all Singaporeans. How will these updates impact you, and what does it mean for the affordability of your healthcare? For more insights, here's our conversation with Professor William Hwang, Senior Consultant, Department of Haematology, Singapore General Hospital and National Cancer Centre.See omnystudio.com/listener for privacy information.

On tonight's Medical Matters, we are focusing on rare condition that many might not be familiar with, that is Gaucher disease. This genetic disorder affects how the body breaks down certain fatty substances, leading to various health complications. While it's rare, understanding it is crucial for those affected and their families. We'll dive into what Gaucher disease is, how it's diagnosed, and the importance of raising awareness for rare diseases like this. Joining for me this discussion is Prof Barry Jacobson, Head of Rare Disease Unit, CMJH Hospital, department of Haematology and internal medicine, Wits University and NHLS.See omnystudio.com/listener for privacy information.

This week, Jonathan is joined by Aniket Mohite, a distinguished member of the EMJ Oncology Editorial Board.   Timestamps:      00:00 – Introduction  01:50 – Dr Aniket Mohite's background and bio  02:35 – Dr Mohite's journey into haematology-oncology: challenges and rewards  06:15 – How international experience shaped Dr Mohite's practice  13:50 – Significant research contributions and impact  17:40 – Current challenges in haematology and overcoming them  21:45 – Approaching patient education in haematology-oncology  28:50 – Discussing initiatives like World Cancer Day and supporting patients and families through cancer  31:26 – Addressing smoking and its impact on cancer treatment  36:00 – Emerging diagnostic technologies in haematology  38:50 – Dr Mohite shares his three wishes for the field of haematology-oncology  

In this episode, we delve into the impact of the new groundbreaking research uncovering the RNU4-2 genetic variant linked to neurodevelopmental conditions. The discovery, made possible through whole genome sequencing, highlights a genetic change in the RNU4-2 gene that affects about 1 in 200 undiagnosed children with neurodevelopmental conditions, making it more prevalent than previously thought. This discovery represents one of the most common single-gene genetic causes of such conditions. Our host, Naimah Callachand, Head of Product Engagement and Growth at Genomics England, is joined by Lindsay Pearse who shares her journey through the diagnosis of her son Lars. They are also joined by Sarah Wynn, CEO of Unique, and Emma Baple, Clinical Genetics Doctor and Professor of Genomic Medicine in the University of Exeter and the Medical Director of the Southwest NHS Genomic Laboratory Hub. We also hear from the 2 research groups who independently discovered the findings: Dr Andrew Mumford, Professor of Haematology at the University of Bristol Link to the research paper: https://www.nature.com/articles/s41591-024-03085-5  Assistant Professor Nicky Whiffin, Big Data Institute and Centre for Human Genetics at the University of Oxford Link to the research paper: https://www.nature.com/articles/s41586-024-07773-7 To access resources mentioned in this podcast:  Unique provides support, information and networking to families affected by rare chromosome and gene disorders - for more information and support please visit the website. Connect with other parents of children carrying a variation in RNU4-2 on the Facebook group.   "I think one of the things we really hope will come out of diagnoses like this is that we will then be able to build up more of that picture about how families are affected. So, that we can give families more information about not only how their child is affected but how they might be affected in the future."   You can read the transcript below or download it here: https://www.genomicsengland.co.uk/assets/documents/Podcast-transcripts/How-has-a-groundbreaking-genomic-discovery-impacted-thousands-worldwide.docx  Naimah: Welcome to Behind the Genes. Lindsay: So, this feeling that like we've been on this deserted island for eight years and now all of a sudden, you're sort of looking around through the branches of the trees. It's like, wait a minute, there are other people on this island and in this case actually there's a lot more people on this island. Yeah, it's very exciting, it's validating. It gives us a lot of hope and, you know, it has been quite emotional too and also a bit of an identity shift. Being undiagnosed had become quite a big part of our identity, and so now that's kind of shifting a little bit that we have this new diagnosis and are part of a new community. Naimah: My name is Naimah Callachand and I'm Head of Product Engagement and Growth at Genomics England. On today's episode, I'm joined by Lindsay Pearse whose son Lars recently received a genetic diagnosis, made possible by research using data from the National Genomic Research Library, Sarah Wynn CEO of Unique, and Emma Baple, a clinical genetics doctor. Today we'll be discussing the impact of recent research findings which have found a genetic change in the non-coding RNU4-2 gene, to be linked to neurodevelopmental conditions. If you enjoy today's episode, we'd love your support. Please like, share and rate us on wherever you listen to your podcasts. Naimah: And first of all, I would like everyone to introduce themselves. So, Lindsay, maybe if we could come to you first. Lindsay: Great, thank you. So, thank you for having me. I'm Lindsay Pearse, I live outside of Washington DC and I'm a mum to 3 boys. My oldest son Lars who is 8, he was recently diagnosed with the de novo variant in the RNU4-2 gene. Naimah: Thank you. And Emma? Emma: My name is Emma Baple. I'm a Clinical Genetics Doctor which means I look after children and adults with genetic conditions. I'm also a Professor of Genomic Medicine in the University of Exeter and the Medical Director of the Southwest NHS Genomic Laboratory Hub. Naimah: And Sarah? Sarah: Hi, thank you for having me. I'm Sarah Wynn, I'm the CEO of a patient organisation called Unique, and we provide support and information to all those affected by rare genetic conditions. Naimah: Great, thank you. It's so great to have you all here today. So, first of all Lindsay, I wonder if we could come to you. So, you mentioned in your introduction your son Lars has recently been diagnosed with the de novo variant. I wondered if you could tell us a bit about your story, and what it's been like up until the diagnosis. Lindsay: Sure, yeah. So, Lars is, he's a wonderful 8 year-old boy. With his condition, his main symptoms he experiences global developmental delays, he's non-verbal. He's had hypertonia pretty much since birth and wears AFO's to support his walking. He has a feeding disorder and is fed by a G-Tube. Cortical vision impairments, a history of seizures and slow growth, amongst other things. So, that's just a bit of a picture of what he deals with day to day. But he's my oldest child, so first baby. When I was pregnant, we were given an IUGR diagnosis. He was breech, he had a hernia soon after birth, wouldn't breastfeed. But all of these things aren't terribly uncommon, you know. But once he was about 3 or 4 months old, we noticed that he wasn't really able to push up like he should, and we were put in touch with early intervention services for an assessment. So, we went ahead and did that when he was about 4 or 5 months old. And as parents, we could just kind of tell that something was off from the assessors. And, you know, they were very gentle with us, but we could just get that sense that okay, something is off, and they're worried here. So, that kind of kickstarted me into making appointments left, right and centre with specialists. The first specialist that we saw was a neurologist. And yeah, again, that's another appointment that I'll never forget. She referred us to genetics and to get an MRI and some lab work but at the end of the appointment, she said to us, ‘Just remember to love your child.' And, you know, that was quite shocking to us at the time because it wasn't something that had ever crossed our mind that we wouldn't do or felt like we needed to be told to do this. But on the other hand, it certainly set off a lot of worry and anxiety of okay, well, what exactly are we dealing with here? So, fast forward, we saw genetics and that was about when Lars was about 8 months old. We went through a variety of genetic testing, a chromosomal micro-array, a single gene testing, then the whole exome testing. Everything came back negative, but it was explained to us that what was going on was likely an overarching genetic diagnosis that would explain his like, multi-system symptoms. And so meanwhile as he was getting older his global delays were becoming more pronounced and we were also in and out of the hospital a lot at this time. At first, he was in day care and, you know, any sort of cold virus would always turn into like a pneumonia for him. So, we were just in and out of hospital seeing a myriad of specialists, trying to put together this puzzle of what's going on and it was really hard to accept that nobody could figure it out. That was just, you know, sort of mind-blowing to us I guess. So, we applied for and were accepted into the Undiagnosed Diseases Programme at the National Institute of Health over here. The NIH as it's commonly referred to. So, we first went there when Lars was 2. He was one of their youngest patients at the time. But that was a really great experience for us because we felt like they were looking at him holistically and across a bunch of all of his systems, and not just seeing a specialist for sort of each system. So, we really appreciated that. We also did the whole genome sequencing through this research study. Although that also came back negative and so at that point, we were told to kind of keep following up symptomatically. Keep seeing the specialists and eventually maybe one day we'll find an overarching diagnosis, but that science just hadn't quite caught up to Lars. It was hard for me again to believe that and to sort of wrap my head around that. But certainly, it was an education from all of the doctors and geneticists and everyone we saw at NIH, to realise like how far there still was to go in terms of genetic research. How it wasn't also that uncommon to be undiagnosed in the rare disease community. I would say that being undiagnosed sort of became part of our identity. And it's, you know, it was something that, you know, you had to explain to like insurance companies and to his school, and it became part of our advocacy around him. Because without being able to say oh, it's this specific thing and if it was someone who hadn't met Lars before, trying to explain to them that, you know, yeah, within the range of this community you can be undiagnosed, and they just haven't found it yet, but I promise you there is something going on here. And I'd say the other thing too without a diagnosis you have no prognosis, right? And so, trying to figure out what the future would look like. Also, family planning. We waited 5 and a half years before we had another child and, you know, it was certainly an anxiety ridden decision. Ultimately after seeing as many specialists as we possibly could, we still were left with the same answer of well, we just don't really know if it will happen again. So, that was a big decision to make. But again, it just kind of became part of our identity and something that you did eventually accept. But I would say in my experience I feel like the acceptance part also of Lars' disabilities perhaps took me a little bit longer. Because again, I didn't have a prognosis, so I didn't exactly know what we were dealing with. Only as he has become older and, you know, you're sort of getting a better sense of what his abilities might be than being able to understand, okay, this is what I'm dealing with. I need to accept that and do what I can to care for him and our family in the best way that we can. Naimah: Thanks so much for sharing that, Lindsay. I feel like you've touched on a lot of really, you know, a lot of complications and difficulties for your family. Especially, you know, with regards to keeping hopeful and things about the prognosis as well, I'm sure it was really difficult. You've mentioned that Lars was able to be diagnosed recently due to recent research efforts. So, Sarah, I wonder if you can tell us a bit more about these and what the findings have meant for patients with neurodevelopmental conditions. Sarah: Yes. So, I think we know that there are lots of families that are in Lindsay and Lars' position where they know that there is almost certainly an underlying genetic condition, and it just hasn't been found yet. And so, I think we know that lots of researchers are working really hard to try and find those causes. I think over time we know that as time goes on and research goes on, we'll find more of these new genetic causes for neurodevelopmental conditions. I think particularly as we start to look at regions of the genome that we haven't looked at so much so far. But I think one of the things that's really extraordinary about this one is that actually it turns out to be much more common than we might have expected, for one of these new conditions that we haven't found before. But I think it's about one in 200 of those undiagnosed children with neurodevelopmental conditions, have this diagnosis so that's not a small number. That's not a rare finding at all actually, that's much more common than we could ever have anticipated. But I think one of the things that we do know is that as we look further and deeper into that genomic sequence, so, we've started off looking at the bits of the sequence that are genes that code for proteins. This changes in a gene that actually doesn't code for protein, so it's less obvious that it would be important but clearly it is important in development because we know when it has a spelling mistake in it, it causes this neurodevelopmental condition. But there will be as researchers look more and more at these kinds of genes, and also the other part of the genome that is not genes at all, we'll find out more and more the underlying genetic causes of these neurodevelopmental conditions. I think it's also really important to stress why this is so important to find these genetic changes and it's because families really need a diagnosis. Lindsay talked quite eloquently and a lot about that knowing something was off and really wanting to know the reason why. Getting these diagnoses might change care management or treatment, but actually really importantly it just gives an answer to families who have often been looking for an answer for a really long time. Naimah: I just wanted to go back to the point that Sarah made that actually this genetic change is relatively common. Emma, I wondered if you could tell us a bit more about maybe why it took us so long to discover it? Emma: That's an interesting question actually. I suppose the sort of slightly simplified answer to that question is we haven't been able to sequence the whole of a person's genetic information for that long. And so, children like Lars would have had, as Lindsay described lots and lots of genetic tests up until they had a whole genome sequencing which is what Sarah was talking about. The types of tests that we had up until the whole genome sequencing wouldn't have allowed us to look at that bit of the genetic code where this RNU4-2 gene can be found. So, we can only really find that using whole genome sequencing. So, before that existed, we wouldn't have been able to find this cause of developmental condition. Naimah: Okay, thanks Emma. Naimah: Now we're going to hear from one of the two research groups who are responsible for these research findings. First of all, let's hear from Nicky Whiffin. (Clip - Nicky Whiffin) Naimah: How were the findings possible using the Genomics England dataset? Nicky: So, most previous studies have only looked at genetic variants that, in genes that make proteins, but only a subset of our genes actually do makes proteins. The Genomics England dataset we have sequencing information on the entire genome, not just on these protein coding genes and that means we can also look at variants in other genes. So, those that make molecules other than proteins. And RNU4-2 for example, makes an RNA molecule. Naimah: These findings translated to direct patient benefit for patients like Lars who were able to receive support from Unique. How does this demonstrate the value of the dataset? Nicky: Yes. So, it was incredible that we could find so many patients with RNU4-2 variants so quickly. This was enabled by access to Genomics England data but also to other large sequencing datasets around the world. So, we worked with people in the US, in Australia and also in mainland Europe. These large datasets enabled us to spot consistent patterns in the data and by looking across multiple datasets we can also make sure that our findings are robust. When we realised how significant this was and how many families would be impacted, we very quickly contacted Sarah at Unique to see if we could direct patients to them for support. (End of clip) Emma: There's one thing I wanted to raise. It's important to recognise the way that was discovered was through the National Genomic Research Library that Genomics England hosts. To highlight the value of that, and the value of having this centralised resource where families have been kind enough really to allow their data to be shared with some limited clinical information that allowed these researchers to be able to pull this out. And I think it highlights the power of the National Health Service in that we were able to create such a resource. It's really quite astounding that we've found such a common cause of a rare genetic condition, and it wouldn't have happened in the same timescale or in this way without that resource. And then to just say that as Sarah talked about the fact that we've been able to get that information out there, also the researchers were able to get out there and contact the NIH and all of these other programmes worldwide. In Australia, America, everywhere in the world and quickly identify new patients who had this condition and get those diagnoses out really rapidly to people. But all that came from that power of sharing data and being able to have that all in one place and making it accessible to very clever people who could do this work and find these answers. It's so important for families like Lindsay's, and all the families in England and around the world that have got these answers. So, I guess it's a big plug for the value of data sharing and having a secure place where people feel that it's trusted and safe, that enables these diagnoses to be made. Lindsay: If I could just echo that, we're so grateful that that exists in the UK. Just acknowledging like the privilege here that we have had to be able to, I mean for our family in the US, that we've been able to, you know, get ourselves into the NIH study and into the study at Children's National. That takes a lot of work. I feel like not everybody has that opportunity to be able to spend the time to do these applications and to go to all the appointments and get the testing done and have the insurance to cover it. So, very grateful that the system exists in a way in the UK that made this sort of research possible. I just hope that that can be replicated in other places, and also to what Emma was saying earlier, come up with a lower cost test as well for this to further the growth of the community and of course then the corresponding research. Sarah: I think firstly we have to sort of thank all of those families that took part and do share their data, because I think it's not always clear why you might want to do that as a family. I think this is really a powerful example of the benefit of that. I also think the data sharing goes one stage further. So, it's partly about getting the diagnosis, but the data sharing going forward about how this condition impacts families, both clinically and sort of day to day lived experience, is how we'll be able to learn more about these conditions. And so, when families get this diagnosis next week or next year, not only will they get a diagnosis, but they'll get a really good idea about what the condition is and how it might impact their child. Naimah: And Lindsay, coming back to you. So, we've talked about, you know, what it meant for your family before the diagnosis, but what has it meant to have a diagnosis and how did you feel? And what happened whenever you received the diagnosis? Lindsay: Sure. Lars was again part of the NIH Undiagnosed Diseases Research study. So, once you attend this programme and if you are not diagnosed like at the end of your stay, they keep your details on file and you're part of this database at the NIH Undiagnosed Diseases Programme. So, if you're undiagnosed after your sort of week-long work up, your samples stay within the research programme. We were also part of a research programme at Children's National Medical Centre, the Rare Disease Institute. So, our samples were sort of on file there in their database as well. And so, at the end of March I was really quite shocked to receive a call from our long time and trusted geneticist at Children's National that they had found a diagnosis. It was quite emotional. I really kind of didn't believe it. I just kept asking, you know, ‘Are you sure? Is this it?' you know, ‘How confident are we?' Because I think in my head, I sort of always thought that we would eventually find a diagnosis, but I thought that Lars would be, you know, a 30- or 40-year-old adult. I thought it would be decades from now. Like I felt like for whatever reason we had to wait decades for the science to sort of catch up to him. So, we were very, very grateful. It felt very validating, I guess. I had always kind of had this intuition feeling that we were sort of missing something and it's more that the science just hadn't quite caught up yet. But, you know, it was validating to know that okay, Lars is not the only person in the entire world with this, it is something that is relatively common in fact within the rare disease community. That is also very exciting to me personally because I'm hopeful that that will lead more researchers to be interesting in this, given how, quote on quote, common it is. I've sort of been describing it as like a mass diagnosis event but also more so this feeling that like we've been on this deserted island for eight years and now all of a sudden, you're sort of like looking around through the branches of the trees. It's like, wait a minute, there are other people on this island ad in this case, there's actually a lot more people on this island. Yeah, it's very exciting, it's validating. It gives us a lot of hope. And, you know, it has been quite emotional too and also a bit of an identity shift. Because I spoke earlier about how like being undiagnosed had become quite a big part of our identity. So, now that's kind of shifting a little bit that we have this new diagnosis and are part of a new community. But yeah, we're just very grateful that the research had continued. And, you know, I think sometimes you sort of have this feeling of okay, our files are up on a shelf somewhere, you know, collecting dust and are people really looking at them? And actually, it turns out that the research was ongoing and yeah, we're just very grateful for that. Naimah: Thanks so much for sharing, Lindsay. It sounds like it's been a real rollercoaster of emotions for your family and I'm glad to hear that, you know, you've got some hope now that you've got a diagnosis as well. So, moving onto the next question. Emma, I wanted to ask you then, how will these findings improve clinical diagnostic services for those for neurodevelopmental conditions? Emma: So, you asked me earlier about why it had taken so long to find this particular cause of neurodevelopmental condition, and I gave you a relatively simple answer. The reality is one of the other reasons is that almost eight out of ten children and adults who have RNU4-2 related neurodevelopmental condition have exactly the same single letter spelling change in that gene. So, actually that in itself means that when researchers are looking at that information, they might think that it's actually a mistake. Because we know that when we sequence genetic information, we can see mistakes in that sequencing information that are just because the machine has, and the way that we process that data, it's not perfect. So, sometimes we find these little mistakes and they're not actually the cause of a person's problems, they're just what we call an artefact or an issue with the way that that happens. So, that is part of the reason for why it was tricky for us to know whether this was, or rather the researchers to know whether this was or was not the cause of this particular condition. But that in itself is quite helpful when we think about how we might identify more people who have this going forwards. Because unlike in Lars' case where we didn't know what the cause was and so we were still searching, and we didn't know where to look in the billions of letters that make up the genetic code to find that answer, we now know that this is really very common. It's unbelievably common. I think we didn't think we would be finding a cause of a rare genetic condition that was this commonly occurring at this stage. But the fact that it's just a single, it's commonly this one single change in the gene means that we can set up pretty cheap diagnostic testing. Which means that if you were somewhere where you wouldn't necessarily have access to whole genome sequencing, or a more comprehensive testing in that way, we could still be able to pick up this condition. And it's common enough that even if you didn't necessarily recognise that a person had it, you could still have this as part of your diagnostic tool kit for patients who have a neurodevelopmental condition. It's common enough that just doing a very simple test that could be done in any diagnostic lab anywhere in the world, you would be able to identify the majority of people who have this. Naimah: Now let's hear from the other research group who are responsible for these findings. Here is Dr Andrew Mumford. (Clip - Dr Andrew Mumford) Naimah: Why are these research findings significant? Andrew: It offers genetic diagnosis not just for a handful of families but potentially for many hundreds of families, who we all know have been searching often for many, many years for a genetic diagnosis. But actually, there are other gains from understanding how this gene causes neurodevelopmental disorder. We know that there's GRNU4-2 in codes, not a protein actually, but a small nuclear RNA which is unusual for rare, inherited disorders. It's a component of a very complicated molecule called the spliceosome which in turn regulates how thousands of other genes are regulated, how they're made into proteins. So, fundamentally this discovery tells us a lot about the biology of how the spliceosome works. We already know that some other components of the spliceosome can go wrong, and result in diseases like neurodevelopmental disorders. This gives us an extra insight and actually opens the door to, I hope, a whole load of more discoveries of genetic diagnosis possible from other components of this complicated molecule. Naimah: Your research group used a mathematical modelling approach. Can you tell me a bit about this, and what this means for other rare conditions, Andrew? Andrew: So, identifying relationships between changes in individual genes and different kinds of rare, inherited disease is notoriously difficult because of the volume of data that's involved and the need to be absolutely certain that observed genetic changes are actually the cause of different rare, inherited disease. So, applying statistics to that kind of problem isn't new. But what my collaboration group have achieved here, is to develop, actually developed some years ago a completely new approach to applying statistics to genetic data. We call that BeviMed and we've been working for many years on the genes in code that make individual proteins. Most rare disorders are caused by genetic changes in genes that make proteins. What this discovery comes from is actually we've applied the BeviMed statistical technique to genes that don't make proteins, they're non-coding genes. For example, genes that make small nuclear RNA, it's just like RNU4-2. What's unusual about the BeviMed approach is that it's very sensitive to detecting links between genetic changes and rare diseases, and it can detect statistical associations really driven by very, very small numbers of families. So, we apply it to datasets like the 100,00 Genomes dataset and identify associations using statistics that have got a very high probability of association. Other members of the team then seek to corroborate that finding by looking at if we can see the association in other datasets, and we certainly achieve that with RNU4-2. But also, assessing biological plausibility by investigating what we understand already about in this case, a small nuclear RNA, and how it can possibly result in a disease. And we normally try and employ other independent evidence such as experimental investigation. Or going back to our families and asking for additional data to help really test this sort of theory that changes in this particular gene have resulted in a problem with neurodevelopment. (End of clip) Naimah: Emma, are there any other ways that we can identify these conditions based on their clinical presentation? Emma: So, Lindsay and I were talking with you just yesterday, wasn't it? And I asked Lindsay about what sorts of things Lars had in common with other children and adults who have been diagnosed with this condition? I actually think Lindsay probably gives a better summary than I would, so I might ask you to maybe repeat what you said to me yesterday. But the bit of it that really stood out to me was when you said to us that a lot of parents have said, ‘I'm not sure how we weren't all put together in the first place because you notice so many things that were in common.' So, maybe if you can give that summary and then I can translate that back into medical terms, if that's okay Lindsay. Lindsay: Sure, of course. Yeah, it been again, kind of mind blowing, some of the similarities. Especially as we've exchanged pictures and such, and baby pictures especially where some of the children like look like siblings. So, definitely some similarities in facial features, you know, everyone seems to experience some of the slow growth, so a short stature or quite skinny. There's feeding issues also that seem to be quite common. Also, you know, things like the global developmental delays, that's certainly across the board and histories of seizures, that's also quite common. Some people have experienced also some, like, bone density issues, that's not something that we've experienced so far, but that also seems to be quite common. But then also, behaviourally, there's a lot of similarities which has been, I think, quite exciting to a lot of us because you've always thought okay, so this is just my child. And of course, some of that is true but it's also interesting to find out some of these other things that are, you know, are quite similar. So, a lot of people have mentioned their child having, like, an interesting sense of humour. Kind of like a very slapstick sense of humour which is quite interesting. Or everyone seems to love water, everybody loves swimming pools and bathtime, and all of that. Lars loves a windy day. Something about the wind, he just loves it and plane noises and things like that have also come up with other people. So, yeah, it's been really interesting and cool to see. Emma: So, I guess Lindsay's sort of very beautifully summed up what is written in the research publication. So, there's only two research publications so far on this condition, it's all really new. And I am definitely not claim to be a clinical expert on this condition, and I don't think there are any yet. It will take people time to see lots of children and adults who have this particular condition. But ultimately what Lindsay summarised was the common clinical features that have been described by parents. In my job as a clinical genetics doctor, part of what we look at is a person's appearance. So, Lindsay described the photographs of children particularly when they were little, looked very similar. In the photographs that I've seen, I would agree with that. And so obviously those children look like their mum and dad, but they have other features that are in common. They have a characteristic appearance and that helps doctors like me to have an idea as to whether a child or an adult might have a particular condition. Then put together with the sorts of information that Lindsay gave us around the low tone, so being a little bit floppier particularly when they're little. The slow growth and growth problems, problems with eating, also with seizures. Those are all common things that were pulled out of both of the two research publications on this condition and putting that all together into one picture helps doctors to have an idea whether somebody may have a particular condition. That would help us in this case to potentially request that simple test I was talking about, if maybe we were practicing in a part of the world where we wouldn't have the resources that we thankfully do have in the United Kingdom, and in the USA. Naimah: So, Sarah, just coming to you next. How does this research spread awareness and help other patients with these conditions? Sarah: So, I think one of the things that's been really great about research now is that we are able to, you know, social media and things like that mean that we can spread this information really quickly across the world basically. I think what that does is that as well as helping bring people together that they've got this diagnosis, what it does is I think it provides hope for all of those people that Lindsay was talking about at the beginning who don't have a diagnosis. So, that piece around people are still looking, the researchers are working hard and that even if you don't have a diagnosis today you might get one in the future. Lindsay talked about your sample being dusty and not being looked at. I think it gives lots of families, not just those that get this diagnosis but all of those that haven't got a diagnosis, hope, that hopefully in the future they will get a diagnosis. I think one of the things we really hope will come out of diagnoses like this is that we will then be able to build up more of that picture about how families are affected. So, that we can give families more information about not only how their child is affected but how they might be affected in the future. That prognosis information that Linsday said is really missing when you don't have a diagnosis. And I think the other thing that hopefully is the next stage in this journey with this discovery is that those two science publications that Emma talked about, what we will want to do here at Unique working with the researchers and those families that have got a diagnosis, is to produce a patient family friendly information leaflet about this condition. One of the things we know is really important about those patient leaflets is including the photos. Because as both Emma and Lindsay have said that idea that they have facial features in common. And so, if you look at a leaflet and you can recognise your child in it, and you can see others that look like it, that can be a really sort of quite heartwarming experience in what often is a lonely experience with a rare condition. Naimah: And I think kind of on that point about it being a lonely experience, I wondered Lindsay if you could talk a bit more if this research has allowed you to connect with other parents and families who have received a diagnosis, and what impact that's had on your family? Lindsay: Yeah. I mean, and I think everything that Sarah has said was spot on. It's wonderful to have resources like Unique to connect families and have those diagnoses on the platform, so other clinicians can look for it and sort of grow this group. I think that has definitely been the highlight of getting this diagnosis at this stage, right. Because there's not much more you can do with it, with someone so brand new so being able to connect with the other families has been wonderful. One amazing mum who with this diagnosis set up a Facebook group, RNU4-2 Family Connect. And, you know, it's just been amazing to see people from all over the world joining this as they receive this diagnosis, you know, sharing their stories. We've spent countless hours on the weekends over the past couple of months on Zoom calls with total strangers, but just you find that you can just talk for hours and hours because you have so much in common. It's great to see what has worked well for other families and, you know, what has not worked. Sharing resources, just kind of all learning together. Also seeing the spectrum of this diagnosis, I think most genetic disorders have a spectrum and this seems to be the same here. So, that's been very interesting. And of course, our son is 8, Lars is 8. There's now a 33-year-old and a 29-year-old in the Facebook group. Speaking for me personally it's just amazing to see them and like it's very cool to see where they're at. That sort of helps you answer some of those questions about that before were quite unknown when you were thinking about the future. Obviously, everybody's development whether you have a genetic disorder or not, it is going to be what it's going to be, and everybody is going to do their own thing. But being able to see what a path might look like is just so helpful. And, you know, we all want community and connection, and so this has been really, really great to have that now. Sarah: I don't think there's much more that I can add because Lindsay articulated so well. But it's really heartwarming for us to hear the benefits of those connections because that's really why Unique and other support groups exist. Is to provide, partly to provide information, but I think predominantly to put families in touch with other families so that they can find a new home and connect and share experiences. And, you know, stop feeling as alone as they might have done before. Naimah: Okay, we'll wrap up there. Thank you to our guests, Lindsay Pearce, Sarah Wynn and Emma Baple for joining me today as we discussed the research findings which found a genetic change in the RNU4-2 gene which has been linked to neurodevelopmental conditions. If you'd like to hear more like this, please subscribe to Behind the Genes on your favourite podcast app. Thank you for listening. I've been your host and producer, Naimah Callachand, and this podcast was edited by Bill Griffin of Ventoux Digital.

This episode is part 3 of the short-answer questions on haematology.You can find short-answer questions, multiple-choice questions, extended-matching questions, digital flashcards, a course on how to learn medicine and the revision tracking tool at members.zerotofinals.com. The audio in the episode was expertly edited by Harry Watchman.

This episode is part 2 of the short-answer questions on haematology.You can find short-answer questions, multiple-choice questions, extended-matching questions, digital flashcards, a course on how to learn medicine and the revision tracking tool at members.zerotofinals.com. The audio in the episode was expertly edited by Harry Watchman.

This episode is part 1 of the short-answer questions on haematology.You can find short-answer questions, multiple-choice questions, extended-matching questions, digital flashcards, a course on how to learn medicine and the revision tracking tool at members.zerotofinals.com. The audio in the episode was expertly edited by Harry Watchman.

On this very special episode, Josh and Michael welcome Dr Adam Brufsky, a trailblazer in the world of breast cancer treatment and a titan in the frenetic development of breast cancer therapies since the mid-late 90s. Dr Brufsky is a Professor of Medicine at the University of Pittsburgh School of Medicine, Chief of the university's Division of Haematology and Oncology and co-director of its Comprehensive Cancer Centre. He received his MD and PhD from the University of Connecticut's School of Medicine in 1990 and has previously worked at Bringham and Women's Hospital and the Dana-Farber Cancer Institute. His areas of special interest include novel therapeutics and management strategies for breast cancer, bone-breast cancer interactions and therapeutics and molecular biology of metastatic breast cancer. He is a font of knowledge and we are so privileged to welcome Dr Brufsky onto the show.For more episodes, resources and blog posts, visit www.inquisitiveonc.comPlease find us on Twitter @InquisitiveOnc!If you want us to look at a specific trial or subject, email us at inquisitiveonc@gmail.comOncology for the Inquisitive Mind is recorded with the support of education grants from Gilead Pharmaceuticals and Merck Pharmaceuticals. Our partners have no editorial rights, and they have access to the episode at the same time you do. Art courtesy of Taryn SilverMusic courtesy of AlisiaBeats: https://pixabay.com/users/alisiabeats-39461785/Disclaimer: This podcast is for educational purposes only. If you are unwell, seek medical advice. Hosted on Acast. See acast.com/privacy for more information.

Haemochromatosis explained, including iron physiology and haemochromatosis pathophysiology, as well as the various genetic causes of hereditary haemochromatosis. We also look at the main symptoms, diagnostic tests and treatment options. Consider subscribing on YouTube (if you found any of the info useful!): https://www.youtube.com/channel/UCRks8wB6vgz0E7buP0L_5RQ?sub_confirmation=1Patreon: https://www.patreon.com/rhesusmedicineBuy Us A Coffee!: https://www.buymeacoffee.com/rhesusmedicineTimestamps:0:00 What is Haemochromatosis? 0:15 Haemochromatosis Pathophysiology 2:24 Hereditary Haemochromatosis Genetics3:53 Causes of Secondary Haemochromatosis4:11 Haemochromatosis Symptoms6:18 Haemochromatosis Diagnosis7:58 Haemochromatosis TreatmentReferencesBMJ Best Practice (2023) Haemochromatosis. Available at https://bestpractice.bmj.com/topics/en-gb/134Hamilton, J - MSD Manual Pro (2022) Hereditary Hemochromatosis. Available at https://www.msdmanuals.com/professional/hematology-and-oncology/iron-overload/hereditary-hemochromatosisHamilton, J. - MSD Manual Pro (2022) Overview of Iron Overload. Available at https://www.msdmanuals.com/professional/hematology-and-oncology/iron-overload/overview-of-iron-overloadHamilton, J - MSD Manual Pro (2022) Secondary Iron Overload. Available at https://www.msdmanuals.com/professional/hematology-and-oncology/iron-overload/secondary-iron-overloadBritish Society for Haematology (2021) Guidelines for the monitoring and management of iron overload in patients with haemoglobinopathies and rare anaemias. Available at https://b-s-h.org.uk/guidelines/guidelines/guidelines-for-the-monitoring-and-management-of-iron-overload-in-patients-with-haemoglobinopathies-and-rare-anaemiasTsutomu N. (2017) Diagnosis and Clinical Implications of Diabetes in Liver Cirrhosis: A Focus on the Oral Glucose Tolerance Test. Available at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686620/Please remember this podcast and all content from Rhesus Medicine is meant for educational purposes only and should not be used as a guide to diagnose or to treat. Please consult a healthcare professional for medical advice. 

Jonathan is joined by Elizabeth Macintyre, President-Elect and Board Member of the Biomedical Alliance, Europe; and Past President of the European Haematology Association (EHA). The pair delve into the world of haematology, focusing on Macintyre's research towards equal access, haematological diagnostics, and her presidency during the COVID-19 pandemic.  Use the following timestamps to navigate the content in this episode:  (00:00)-Introduction  (01:39)-Macintyre's route into medicine   (04:13)-Haematology in Europe, and leading the EHA   (08:30)-Diagnostics in haematological malignancies  (10:18)-Changes to congress following COVID-19  (14:12)-Coffee conversations   (15:36)-Madrid 2024  (18:42)-Jonathan speaks French   (24:07)-Medical politics and economics  (30:00)-Accessing new treatments   (35:43)-Three wishes for the future of healthcare  

This episode covers haemolytic uraemic syndrome.Written notes can be found at https://zerotofinals.com/medicine/renal/hus/ or in the renal medicine section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

Jonathan is joined by António Almeida, President of the European Hematology Association (EHA); and Professor and Director of the Clinical Haematology Service, Hospital da Luz, Lisbon, Portugal, to discuss his highlights since becoming EHA President. The pair cover the three pillars of EHA, the anticipated topics for the 2024 congress, and how Almeida has implemented a brand-new medical school, as well as much more.    Use the following timestamps to navigate the content in this episode: (00.00)-Introduction (01:55)-Almeida's new medical school (03:35)-EHA Master Class peer-based learning and modern medical education (09:00)-Presidential highlights  (11:50)-EHA's three pillars in the coming year (16:05)-EHA 2024 in Madrid (20:15)-Research in myeloproliferative and myelodysplastic syndromes (23:00)-Clinical trial updates in myelodysplastic syndromes and chronic myeloid leukaemia (26:50)-Changes over the course of Almeida's career (31:30)-Treatment advances on the horizon (32:50)-CRISPR to treat sickle cell disease and β-thalassaemia (36:30)-Three wishes for the future of healthcare 

Natalie is joined by Dr Ian Bilmon, a senior consultant Haematologist working at Westmead Hospital and Sydney Adventist Hospital to do a deep dive into haemochromatosis. They cover: What is heriditary haemochromatosis or iron overload? How is haemochromatosis managed? What other conditions are patients with haemochromatosis at risk of? Who else is at risk of iron overload and how is it managed?   Avid Purple Pen listeners may recognise Dr Bilmon who has been on our podcast previously.  Check out episode 70 where Ian goes back to Haematology Basics.

Hi everyone, Welcome to part 3 of a 3 part series we have put together – 3 hypothetical cases involving anaemia / patient blood management scenarios. Thanks to the two great colleagues who made these discussions with me, Dr Anastazia Keegan Head of Haematology here at KEMH and Assoc Prof Nolan McDonnell a colleague from our Department of Anaesthesia. These cases might sound familiar to any registrars who have attended the Thursday teaching run here over the last 8-9 years! We had a lot of fun discussing these three cases and I hope there is a lot of great learning for those of you listening – thanks Anastazia and Nolan for giving up a few hours to put these together!

This episode covers deep vein thrombosis and venous thromboembolism.Written notes can be found at https://zerotofinals.com/medicine/haematology/dvt/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers haemophilia.Written notes can be found at https://zerotofinals.com/medicine/haematology/haemophilia/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers von Willebrand disease.Written notes can be found at https://zerotofinals.com/medicine/haematology/vonwillebranddisease/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers thrombocytopenia.Written notes can be found at https://zerotofinals.com/medicine/haematology/thrombocytopenia/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers myelodysplastic syndrome.Written notes can be found at https://zerotofinals.com/medicine/haematology/myelodysplasticsyndrome/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers myeloproliferative disorders.Written notes can be found at https://zerotofinals.com/medicine/haematology/myeloproliferativedisorders/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers myeloma.Written notes can be found at https://zerotofinals.com/medicine/haematology/myeloma/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers lymphoma.Written notes can be found at https://zerotofinals.com/medicine/haematology/lymphoma/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers leukaemia.Written notes can be found at https://zerotofinals.com/medicine/haematology/leukaemia/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers sickle cell disease.Written notes can be found at https://zerotofinals.com/medicine/haematology/sicklecellanaemia/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers thalassaemia.Written notes can be found at https://zerotofinals.com/medicine/haematology/thalassaemia/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers haemolytic anaemia.Written notes can be found at https://zerotofinals.com/medicine/haematology/haemolyticanaemia/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers pernicious anaemia.Written notes can be found at https://zerotofinals.com/medicine/haematology/perniciousanaemia/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers iron deficiency anaemia.Written notes can be found at https://zerotofinals.com/medicine/haematology/irondeficiencyanaemia/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers anaemia.Written notes can be found at https://zerotofinals.com/medicine/haematology/anaemia/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

This episode covers components of blood.Written notes can be found at https://zerotofinals.com/medicine/haematology/componentsofblood/ or in the haematology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

You might think becoming eternally young isn't possible but scientists from Cornell University, the University of Oxford, the University of Cambridge, and Cancer Research UK, are actively exploring how to reverse the ageing process. Dr. Meng Wang, Clinician Scientist in Haematology at Cornell University joins Jonathan to discuss.

Drs. Masarova and Mesa discuss myelofibrosis data presented during the 2023 annual meeting of the European Hematology Association.

Drs. Mesa and Masarova highlight myelofibrosis data presented at the 2023 annual American Society of Clinical Oncology meeting.

In this specialist spotlight, Drs. Kuykendall and Mascarenhas share their insights into JAK inhibitor drug choice in patients with myelofibrosis.

Drs. Mascarenhas and Kuykendall share their insights into the treatment of patients with myelofibrosis and anemia, in another segment of specialist spotlight.

In this episode, we invite Dr. Amir Ali, PharmD, BCOP to discuss with us the pathophysiology, risk factors, prevention, and treatment clinical pearls of tumor lysis syndrome TLS). Key Concepts TLS is caused by rapid cell death of cancerous cells that results in intracellular contents “spilling” into the blood – this leads to high serum uric acid, high serum potassium, high serum phosphate, and LOW calcium. These laboratory abnormalities cause acute kidney injury (via crystal formation in the kidney), arrhythmias (from hyperkalemia), and seizures (from high phosphate and low calcium). Patients at highest risk for TLS are those with hematologic malignancies (lymphomas and leukemias), especially if WBC or LDH labs are very high. Prevention is the Key! The primary prevention approach for TLS is hydration, allopurinol, and sometimes a low dose of rasburicase. The treatment of TLS involves more aggressive hydration and rasburicase. References Coiffier B, Altman A, Pui CH, Younes A, Cairo MS. Guidelines for the management of pediatric and adult tumor lysis syndrome: an evidence-based review [published correction appears in J Clin Oncol. 2010 Feb 1;28(4):708]. J Clin Oncol. 2008;26(16):2767-2778. doi:10.1200/JCO.2007.15.0177 Cairo MS, Coiffier B, Reiter A, Younes A; TLS Expert Panel. Recommendations for the evaluation of risk and prophylaxis of tumour lysis syndrome (TLS) in adults and children with malignant diseases: an expert TLS panel consensus. Br J Haematol. 2010;149(4):578-586. doi:10.1111/j.1365-2141.2010.08143.x Jones GL, Will A, Jackson GH, Webb NJ, Rule S; British Committee for Standards in Haematology. Guidelines for the management of tumour lysis syndrome in adults and children with haematological malignancies on behalf of the British Committee for Standards in Haematology. Br J Haematol. 2015;169(5):661-671. doi:10.1111/bjh.13403