Keano S.’s Post

🇬🇧ToxGenSolutions is participating in the "Genomics in Rare Disease" #GRD24 conference at the Wellcome Connecting Science Learning and Training Genome Campus in Hinxton, UK. Our poster presentation and pitch, led by Keano Achilleas S. and supported by Stan Goertz, MSc, will discuss the study "Integrated Targeted Sequencing and MicroRNA Profiling Approach for the Development of a Postnatal Diagnostic Tool in Chromatin Remodeling and Transcriptional Regulation Disorders (CRTDs)". The study addresses diagnostic challenges in CRTDs, including Rubinstein-Taybi Syndrome, Floating-Harbor Syndrome, Menke-Hennekam Syndrome, Coffin-Siris Syndrome, and Cornelia de Lange Syndrome. By combining targeted sequencing and microRNA profiling, our objective is to clarify the genetic and epigenetic mechanisms that underpin these disorders. This approach aims to advance the development of a diagnostic tool that improves accuracy and efficiency in diagnosing CRTDs. This effort reflects our commitment to enhancing understanding and management of rare diseases through genomic and epigenetic research. We anticipate engaging with the academic community at the conference to share insights and explore the potential of genomics in rare disease diagnosis and treatment. #GenomicsInRareDisease #Hinxton #Wellcome #CRTDs #RareDiseaseResearch #ToxGenSolutions #GenomicInnovation #Transcriptomic #Epigenetic #microRNA #RubinsteinTaybiSyndrome #FloatingHarborSyndrome #MenkeHennekamSyndrome #CoffinSirisSyndrome #CorneliadeLangeSyndrome

🧬 Comprehensive genomic analysis using next-generation sequencing (NGS) increases the potential of uncovering an underlying etiology in patients. It offers the highest likelihood of rare disease diagnosis and a faster path to ending the diagnostic odyssey. 🧑⚕️ Understanding the genomics of rare diseases can help doctors pinpoint the cause of undiagnosed disorders and help families avoid years of hospital visits and unnecessary tests. 📘 Download our eBook to learn how genomics is driving a fundamental shift in rare disease diagnosis. https://lnkd.in/dQM3gPib #Genomics #NGS #RareDisease #PrecisionMedicine #GeneticTesting #HealthcareInnovation #MedicalResearch #Diagnosis #GenomicMedicine #Bioinformatics Objetivo Diagnóstico. Asociación de personas sin diagnóstico FEDER ONG Sociedad Española de Neurología Sociedad Española de Neurología Pediátrica RD-Portugal

Take the opportunity to download this Illumina ebook. It 's a good read about the impact of NGS on Precision Medicine, and in particular, on the treatment of Rare Diseases.

More than 150 non-coding risk variants for asthma have been found, but the regulatory effects of most aren’t known. Because wheezing during rhinovirus infection is a risk factor for developing asthma later in childhood, Sarah Djeddi, Daniela Fernandez Salinas, Maria Gutierrez-Arcelus, and colleagues suspected that airway epithelial cells play a role. By integrating transcriptomic datasets with GWAS results, they observed upregulation of asthma-associated genes in human airway epithelial cells exposed to rhinovirus, especially in non-ciliated cells. Future studies of these cells could reveal the target genes of asthma risk variants and potential new therapeutic opportunities. Read more in Cell Genomics. https://lnkd.in/eJcff5Aq #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

【Decoding Rare Disease - Alagille Syndrome】 Promoting understanding of genomic medicine and its clinical applications among the community has always been one of the key areas that HKGI focuses on. We are pleased to share that our Chief Medical and Scientific Officer, Dr Hon-Yin Brian Chung, and our Consultant (Genomics), Dr Josephine Chong, recently delivered interviews for the popular TV programme "Vital Lifeline" (最強生命線) produced by TVB as part of a series introducing various rare diseases. In one of the first few episodes that have just been broadcast, Dr Chung discussed Alagille syndrome, a genetic disorder that can affect the liver, heart, and other parts of the body. Citing a newborn case from the Hong Kong Genome Project implemented by HKGI, Dr Chung explained the disease’s symptoms and the applications of whole genome sequencing (WGS) technology along the patient journey. The use of WGS in this case was pivotal, enabling accurate diagnosis and tailored treatment plan. The sequencing results also guided the patient’s parents on future family planning. Watch the episode to learn more: https://lnkd.in/eYeSEpnD Stay tuned for upcoming sharing by Dr Chung and Dr Chong. #HKGI #HKGP #HongKongGenomeInstitute #GenomicMedicine #GenomeProject #MediaInterview #RareDisease #PersonalisedTreatments #TVB #VitalLifeline

Excited to share that our paper titled "Rare variant burden analysis from exomes of three consanguineous families reveals LILRB1 and PRSS3 as potential key proteins in inflammatory bowel disease pathogenesis" was published a year ago! 📄✨ in Frontiers. This research proposed a novel strategy for unraveling the complex genetic architecture of IBD by integrating WES data of familial cases, with computational analysis. Thank you to everyone involved in this journey! #Research #InflammatoryBowelDisease #Genomics https://lnkd.in/diFmVWCp

Understanding the genomics of rare disease can help doctors pinpoint the cause of undiagnosed disorders, helping families avoid years of hospital visits and unnecessary tests. There are more than 7,000 known rare diseases and more discovered every year. Collectively, 2–6% of the population (> 150 million people) is affected by a rare disease. On average, the long search for a rare disease diagnosis — the “diagnostic odyssey” — takes 5 to 7 years,4 up to 8 physicians, and 2 to 3 misdiagnoses. Given that 80% of rare diseases are genetic or have a genetic component, comprehensive genomic sequencing increases the potential of uncovering an underlying etiology in patients. Next-generation sequencing (NGS) offers the highest likelihood of rare disease diagnosis and the fastest path to ending the diagnostic odyssey. At AGTC Genomics, we are committed to ending these diagnostic odysseys by delivering faster diagnosis and better understanding the genomics of rare disease so that tailored treatments can be provided to patients based on individual genetic profiles, faster and safer. #genomics #ngs #rarediseases #genetictesting

Researchers at the Francis Crick Institute, led by geneticist James Lee, are making groundbreaking strides in decoding the complex genetic and immune mechanisms underlying inflammatory bowel disease (IBD). Their recent study identifies specific genes that influence immune system behavior, shedding light on why some patients respond differently to treatments. These insights are critical as IBD, which includes Crohn's disease and ulcerative colitis, continues to affect more people globally each year. By understanding how certain genes regulate immune responses and contribute to inflammation, the team at the Crick Institute is paving the way for personalized therapies that are more effective and tailored to individual genetic profiles. Dive deeper into how these advanced genetic discoveries could lead to transformative treatment options for IBD patients. #HealthcareInnovation #Genomics #IBDResearch #PersonalizedMedicine Read more: https://lnkd.in/eCkc7BvP

The innovative high-throughput sequencing of human DNA could soon expand established newborn screening to include numerous diseases. But which diseases should be prioritized? To explore this, we compared gene and disease lists from international studies, analyzing similarities and differences. Our findings: The overlap of target diseases is low, with only 53 in common. Most of these diseases are inborn errors of metabolism, which have historically been central to newborn screening. Our take-away: To implement nationwide genomic newborn screening, we need a broad and inclusive discussion involving patient representatives, professional societies, and policymakers. We must carefully weigh the opportunities and risks to ensure the best possible care for newborns. Find more in our recently published article in the Journal of Inherited Metabolic Disease: https://lnkd.in/eucbpWAR #genomics #newbornscreening

The Spinning Wheel of Science: 26 Years of Scientific Voyage While at the Unlocking Hope for the Ultra-Rare conference organized by PACS2 Research Foundation (sponsored by Charles River, AstraZeneca, Takeda), besides getting more involved with the scientific work for the Foundation, I was glad to have met some fascinating people from the world of science. The attached picture depicts Dr. Gary Thomas, a professor from the University of Pittsburgh who has dedicated his entire life to investigating signaling pathways associated with PACS proteins (multi-functional sorting proteins), which he and his team discovered and described in 1998 (Link 1 provided). Twenty years later, in 2018, Heather Olson from Boston Children's Hospital (also present at the conference) wrote a paper on (Link 2 provided) a recurrent de novo PACS2 heterozygous missense mutation in 14 patients representing a group of neurodevelopmental diseases - developmental and epileptic encephalopathies (DEEs). Twenty-six years later, a global community of scientists met up in Warsaw to discuss the current progress in deciphering the pathological mechanisms, etiology, and potential curative therapies of this ultra-rare disease. It all started thanks to one highly motivated family of non-scientists whose child was born with a DEE caused by the mutation in PACS2. It was a privilege to be there and to contribute my knowledge and experience to building a better future for these patients. Link 1: https://shorturl.at/E7Om7 Link 2: https://shorturl.at/VrkbO #PACS2 #rarediseases #genetics #harvardmedicalschool