Health in Code Global

𝗧𝗵𝗲 𝗳𝗶𝗿𝘀𝘁 𝗣𝗮𝗰𝗕𝗶𝗼 𝗥𝗲𝘃𝗶𝗼™ 𝗶𝗻 𝗦𝗽𝗮𝗶𝗻 𝗶𝘀 𝗻𝗼𝘄 𝗼𝗽𝗲𝗿𝗮𝘁𝗶𝗼𝗻𝗮𝗹 𝗶𝗻 𝗼𝘂𝗿 𝗹𝗮𝗯𝗼𝗿𝗮𝘁𝗼𝗿𝗶𝗲𝘀 🧬 𝙇𝙤𝙣𝙜-𝙧𝙚𝙖𝙙 sequencing has arrived in our labs, allowing us to tackle the challenges posed by the most complex regions of the genome in the genetic diagnosis process 🔍 With the new Revio™, we become the first PacBio 𝘚𝘦𝘳𝘷𝘪𝘤𝘦 𝘗𝘳𝘰𝘷𝘪𝘥𝘦𝘳 in Southern Europe, ready to explore new horizons in biology, addressing the most challenging questions with its HiFi long-read sequences ✅ Everything is set to redefine diagnosis with each read 🔝🤖 Learn more 👉🏻 https://lnkd.in/dgagY3pA https://lnkd.in/dNb2YJWu

#Cardiomyopathies 🫀 The upcoming international expert consensus document on arrhythmogenic cardiomyopathy will be discussed at the Zurich International ACM Symposium starting tomorrow 🔜 Cardiology USZ Genetics in the diagnosis and treatment of arrhythmogenic cardiomyopathy is recognized in the Heart Rhythm Society’s 2019 consensus statement 🧬 Our cardiology colleagues Juan Pablo Ochoa and Soledad García-Hernández, along with our executive clinical advisor William McKenna, are involved in drafting the new document and will share their expertise at the symposium 🤗 We are excited to discover all the latest news on #arrhythmogeniccardiomyopathy in Zurich with leading international experts 🔝🤩 See you there! ✈️ #CardioZurichSymposium

𝗘𝗮𝗰𝗵 𝘀𝘁𝗲𝗽 𝗰𝗼𝘂𝗻𝘁𝘀... 👣 More advances in clinical trials for gene therapies 👇🏻 Every day we wake up to good news about breakthroughs in the biotech sector that could ultimately improve or save the lives of patients with genetically-based diseases 👤   Recently, companies Azitra Inc and Ocugen announced another step forward in their ongoing trials of therapies for two rare diseases: Netherton syndrome and Stargardt disease.   🧬 OCU410ST is Ocugen's potential gene therapy for 𝗦𝘁𝗮𝗿𝗴𝗮𝗿𝗱𝘁 𝗱𝗶𝘀𝗲𝗮𝘀𝗲, a genetic eye disorder that causes vision loss and affects 1 in 10. 000 people 👁️ The drug has already completed the dosing phase in its trial with encouraging results ✅👏🏻 https://lnkd.in/dEdpS-ab   🧬 ATR-12 is Azitra's potential therapy for 𝗡𝗲𝘁𝗵𝗲𝗿𝘁𝗼𝗻 𝘀𝘆𝗻𝗱𝗿𝗼𝗺𝗲, a chronic genetic skin disease that causes immunodeficiency and other complications, affecting 1-9 in 100,000 people 👦 https://lnkd.in/d_mxRxVA   Both are pathologies that 𝗹𝗮𝗰𝗸 𝗮𝗻 𝗲𝗳𝗳𝗲𝗰𝘁𝗶𝘃𝗲 𝘁𝗿𝗲𝗮𝘁𝗺𝗲𝗻𝘁 and whose management is based on taking preventive measures or treatment of symptoms as they appear 💊   The emergence of 𝗻𝗲𝘄 𝗮𝗻𝗱 𝗽𝗼𝘁𝗲𝗻𝘁𝗶𝗮𝗹 𝘁𝗿𝗲𝗮𝘁𝗺𝗲𝗻𝘁𝘀 that treat the genetic basis of the disease opens a small door of hope for thousands of people to grow up and live with a good quality of life 👏🏻   #StargardtDisease #NethertonSyndrome #GeneticDiagnosis #LeaveNoPatientsUndiagnosed #ClinicalTrials

Starting this Friday, we have our annual meeting with cardiologists worldwide: #ESCCongress 👉🏻📍 London, August 30 - September 2. We will share our latest advances in cardiovascular genetics to continue highlighting how this discipline benefits patients and facilitates the cardiologist's approach to each case ♥️🩺 We will continue discussing and exploring with key players in the pharmaceutical industry how to jointly optimize drug development by understanding how patient genomics influence therapeutic responses 💊 At Health in Code Group, we provide our knowledge and technology to pharmaceutical companies to ensure maximum drug safety and efficacy by stratifying patients based on their genetics and guaranteeing the reliability of clinical trial results ✅ Our cardiology team is waiting for you in London. If you are committed to truly personalized medicine, we'll see you there 🤗⬇️ https://lnkd.in/dASRDfSm See you soon! 😊

Understanding the genetics of patients who are participating in clinical trials is crucial to ensuring the efficacy and safety of investigational treatments 🔍 Especially in certain conditions and with specific types of drugs, patients exhibit highly variable responses to the same medication. This occurs, for example, in metabolic dysfunction-associated steatohepatitis (MASH, formerly known as NASH), a complex and multifactorial liver condition that can progress to cirrhosis or liver cancer 🤔 MASH is linked to increased cardiovascular risk and is becoming more prevalent. Currently, there are no approved treatments, only clinical trials aimed at improving management and prognosis 💊 Health in Code Group has developed a genetic panel for MASH that analyzes whether a person's genetics predispose them to develop the condition (which helps stratify medication efficacy) and assesses the inherent cardiovascular genetic risk for each patient 🫀 In this way, we assist pharmaceutical companies in ensuring the reliability of their clinical trials and the efficacy and safety of their treatments 🤝 Know more 👉🏻 https://lnkd.in/dqwAQGjw

These days we have been at the European Atherosclerosis Society Congress, where there has been a lot of talk about genetics in atherosclerosis 🧬 We presented our work on the importance of CNVs identification in patients with Familial Hypercholesterolemia, with an analysis of a cohort of 395 patients studied by NGS panels 🔍 The results of this study demonstrate the importance of making a correct diagnosis of this type of variants, especially in the 𝘓𝘋𝘓𝘙 gene in which they represent around 9% of positive cases ➕ NGS panels specifically designed for this phenotype maximise diagnostic yield by efficiently identifying both CNV-type variants and deep intronic variants that would not be detected by exome analysis ❌ Know more about our solutions for genetic diagnosis in atherosclerosis 👉🏻 https://lnkd.in/gm9XWCAb #EASCongress2024 #Atherosclerosis

#ANNOUNCEMENT 📰 We're thrilled to announce our latest groundbreaking collaboration! Health in Code Group is teaming up with PacBio, implementing its technology in our laboratories, to facilitate complex diagnoses using HiFi whole genome long-read sequencing. 🔍🧬 𝗖𝗼𝗺𝗽𝗹𝗲𝘅 𝗴𝗲𝗻𝗼𝗺𝗶𝗰 𝗿𝗲𝗴𝗶𝗼𝗻𝘀: 𝗮 𝗰𝗵𝗮𝗹𝗹𝗲𝗻𝗴𝗲 𝗳𝗼𝗿 𝗺𝗼𝗹𝗲𝗰𝘂𝗹𝗮𝗿 𝗱𝗶𝗮𝗴𝗻𝗼𝘀𝘁𝗶𝗰𝘀⁣ ⁣ To meet this and other challenges of personalized medicine we have reached an agreement with PacBio, becoming its first service provider in Southern Europe, to deploy HiFi long-read sequencing. To this end, we will install the first 𝗥𝗲𝘃𝗶𝗼™⁣ machine in Spain, which can sequence up to 1,300 genomes per year, generating HiFi reads. Despite the breakthroughs in genome sequencing technology, there are still complex regions in the human genome that cannot be adequately analyzed using short-read sequencing techniques. These regions pose a significant challenge for precision molecular diagnostics. PacBio technology offers a comprehensive solution to these limitations by enabling high-fidelity (HiFi) long-read sequencing. Recent studies have shown that PacBio sequencing has increased diagnostic power in previously undiagnosed families in 𝘂𝗽 𝘁𝗼 𝟭𝟳.𝟯% 𝗼𝗳 𝘁𝗵𝗲 𝗰𝗮𝘀𝗲𝘀⁣. This is due to its high capacity to resolve structural variants (SVs) and copy number variants (CNVs), while maintaining a high level of precision (> 99%) in the detection of single nucleotide variants (SNVs), small insertions and deletions. PacBio sequencing also enables direct epigenetic analysis without any additional steps during sample processing. This opens new possibilities for studying diseases related to genetic imprinting. What’s more, sequencing with HiFi long reads is the only type that can provide accurate information on haplotypes. Adopting PacBio sequencing technology represents a major breakthrough in genetic diagnostics and basic scientific research. By overcoming the limitations of short-read platforms, Health in Code Group opens the door to new areas of genetic diagnostics and personalized medicine that were previously unexplored. This technology has the potential to benefit thousands of families suffering from complex diseases, giving them greater clarity on the underlying causes of their disease and shortening the diagnostic odyssey awaiting them. 𝗢𝗻𝗲 𝘀𝘁𝗲𝗽 𝗰𝗹𝗼𝘀𝗲𝗿 𝘁𝗼 𝗼𝘂𝗿 𝗴𝗼𝗮𝗹 𝗼𝗳 #𝗟𝗲𝗮𝘃𝗲𝗡𝗼𝗣𝗮𝘁𝗶𝗲𝗻𝘁𝘀𝗨𝗻𝗱𝗶𝗮𝗴𝗻𝗼𝘀𝗲𝗱 💪🏻 💬 And we’re off! Join our teams at #ESHG2024 in Berlin and explore how you can leverage these capabilities to empower confident decision-making. 📌 Learn more about our exciting collaboration: https://lnkd.in/dEK4TQ7C

Happening today at #ESHG2024! 📷 Don't miss this unique opportunity to visit our booth and connect with our experts to discover the latest innovations in clinical genomics! Come and visit us! 🧬 Our new Clinical WGS  🧫 Incorporating Olink Proteomics into research 🔍 Long-read sequencing by PacBio   ➕ And more... DAY 1️⃣ / 3️⃣ #LeaveNoPatientsUndiagnosed ESHG European Society of Human Genetics

Ready to welcome you at #ESHG24 conference! Find us at booth #620 and discover our new solutions to leave no patients undiagnosed: 🧬 WGS Clinical, with our new Illumina NovaSeq X Plus 🧫 Proteomics by Olink Proteomics 🔍 Long-read sequencing by PacBio ➕ And more... 👉 https://lnkd.in/dANKWQRX See you tomorrow! 🤗 #HumanGenetics #LeaveNoPatientsUndiagnosed

Embrace our mission: leave no patients undiagnosed 🎯 One of the most important dates on our calendar is approaching: the European Society of Human Genetics Conference. We will present our new genomic diagnosis solutions there, don't miss them! 👇🏻   🧬 Our genome solution with clinical-diagnostic interpretation is key to providing information that can help with the diagnosis, prognosis, and clinical management of any patient with a rare pathology or immersed in the diagnostic odyssey, significantly reducing the time and resources to provide a rapid and safe diagnosis, as well as identification of treatment options for the patient.   🤝 Our partnership with PacBio will allow the application of its 𝘭𝘰𝘯𝘨-𝘳𝘦𝘢𝘥 𝘴𝘦𝘲𝘶𝘦𝘯𝘤𝘪𝘯𝘨 technology for sequencing complete genomes, facilitating the study of genetic variation through a more complete view of the human genome. This technology allows, among other things, to resolve complex structural variations and analyze complex regions that are difficult to study with other technologies.   Check here for all the information about our presence at the congress 👉🏻 https://lnkd.in/dANKWQRX See you in Berlín! 🤗 #LeaveNoPatientsUndiagnosed