María Gabriela Atencia Cibreiro’s Post

🧬 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

Genomics in Syndromic Disease Management The integration of #genomics into #syndromic disease management is revolutionizing healthcare by enabling precise diagnosis and tailored treatment strategies. Syndromic diseases, characterized by complex and overlapping symptoms, often pose diagnostic challenges. Genomics bridges this gap by uncovering the genetic underpinnings of these conditions, allowing for accurate identification and differentiation. For example, genomic #sequencing can identify rare mutations responsible for diseases like Marfan syndrome, Rett syndrome, or mitochondrial disorders. Early genetic diagnosis reduces diagnostic times, ensuring patients receive timely, targeted interventions. Furthermore, understanding the genetic basis of syndromic diseases enables personalized treatment plans, improving patient outcomes. Genomics also supports reproductive counseling, helping families assess the risk of passing genetic conditions to future generations. Additionally, advancements like #wholegenomesequencing and #transcriptomics are shedding light on gene-environment interactions, paving the way for innovative therapies. #Genomics #SyndromicDiseases #PrecisionMedicine #Transcriptomics #WGS #RNASequencing

【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

Public health genomics is about all of us! Should we focus on rare or common diseases? Multiple global genomics and precision medicine initiatives have focused on rare diseases (and cancer). These projects envision a future where the availability of more data can facilitate our ability to better diagnose, treat, and prevent diseases. With limited resources, debates on where to begin are inevitable. However, such debates rest on a false dichotomy, i.e., that by starting with rare diseases we have forsaken our obligation to address common diseases. To the contrary, what we build and what we learn by implementing PM for rare diseases can be extended to common diseases. Via Nature Magazine Genomic Medicine.

Interesting line of thought that is often overlooked….. “that by starting with rare diseases we have forsaken our obligation to address common diseases. To the contrary, what we build and what we learn by implementing precision medicine for rare diseases can be extended to common diseases”. Via Nature Magazine Genomic Medicine.

☄️GenomeArc started a global collaboration to help clinicians and scientists to resolve rare disease patients remained undiagnosed with VUS variants. 💫GenomeArc Horizon, a multimodal clinical genomics platform will reanalyze unresolved complex cases to bring variants/genes to enhance diagnosis. 💫Please email us if it interest you: project@genomearc.com Read more about “Redolving the Unresolved”: https://lnkd.in/de7Avzh7 #rarediseases #genomics #raredisease #clinicalgenomics #VUS

Are you familiar with Project Baby Bear? It aimed to identify the clinical and economic impact of Rapid Whole Genome Sequencing (rWGS) for critically ill children who receive care in ICU settings across California.  The results revealed that of the 178 babies sequenced, 40% were diagnosed and 32% saw changes in treatment. Additionally,11% had qualified variants.  Learn more about how Baylor Genetics  rWGS/rWES, now with RNAseq, can offer you comprehensive insights and actionable diagnosis to improve outcomes for your patients: https://bit.ly/3Jt6FPZ 

🚀 Unlock the Future of Genomic Medicine! 🧬 📢 Don't miss out on this insightful presentation that could redefine the future of diagnostics and patient care. Dr. Malte Spielmann (University Hospital Schleswig-Holstein) dives deep into the transformative power of Whole-Genome Sequencing (WGS). Discover compelling use cases where WGS outperforms the current standard of care, proving to be an incredibly effective first-tier test for patients with rare diseases.🌟 Link: https://lnkd.in/dQR4EMzv #GenomicMedicine #WholeGenomeSequencing #RareDiseases #HealthcareRevolution FEDER ONG Objetivo Diagnóstico. Asociación de personas sin diagnóstico Asociación Española de Genética Humana

In our latest blog, we dive into the important role of genetic variants in genes TSHR, DIO1, KMT2D, RET, and THRB in influencing thyroid health. These genes are important in understanding thyroid function and disorders, such as hypothyroidism, hyperthyroidism, and medullary thyroid carcinoma (MTC). Through this exploration, we highlight how genetic insights can pave the way for more accurate diagnoses and personalized treatment options for patients with thyroid conditions. In honor of Thyroid Disease Awareness Month, we’re offering free access to variant data on these thyroid-related genes. By providing open access to this data, we aim to further research efforts and improve patient outcomes through actionable genetic insights. These insights are not only valuable to clinicians for treatment decisions but are also vital for advancing genomic research in the field of thyroid disorders. Whether you’re a researcher, clinician, or healthcare provider, these insights are key in driving precision medicine and improving the quality of care for patients with thyroid conditions. 🔗 Read the full blog authored by Genomenon's Curation Scientist II, Selma Muratovic here: https://lnkd.in/gNEv6yks 🔍 Explore our Mastermind® Genomic Intelligence Platform® and take advantage of this free offer: https://lnkd.in/g7c_Fzs #ThyroidAwareness #GeneticInsights #PrecisionMedicine #ThyroidDisorders #Genomics #Genomenon #Research #Healthcare #ThyroidHealth #FreeAccess #GenomicData #ThyLife

Diagnosing rare diseases in adults using Next-Generation Sequencing 🔬 Advanced sequencing tools like exome/genome sequencing (ES/GS) and long-read sequencing (LRS) significantly improved diagnostic accuracy, especially for adult cohorts 🧬 This month’s suggested read, in support of Telethon and rare disease research, is a paper providing a way to maximise diagnosis yields by considering several clinical parameters in patients, including family history, age of symptom onset, and genetic cause 🦠 We at 4bases present the WholEx pro sequencing kit allowing whole exome sequencing for single nucleotide variant identification Read the full article here: https://lnkd.in/dU7yzKU9 #RareDiseases #PrecisionMedicine #Telethon