Uma Lakshmipathy的动态

Undoubtedly, advancements in genetics have transformed healthcare, making personalized medicine, early disease diagnosis, and targeted therapies a reality. However, the scientific journey to where we stand today has been anything but easy. In our latest post, Timeline of Human Genome Sequencing, we highlight the major figures and groundbreaking scientific initiatives that paved the way for these revolutionary developments in healthcare.

Pushing boundaries in rare disorders Here we can see how nanopore sequencing is enabling to find the genetic mechanism of different rare disorders unresolved by other techniques, as @Bedelamo presented on last London Calling 2023. Watch it here: https://lnkd.in/dyJRYge4

Researchers have linked hundreds of genetic variants to coronary artery disease risk, but as with many conditions, probing the biological relationships between variants and risk remains challenging. Gavin Schnitzler, Helen Kang, Rajat Gupta, Jesse Engreitz and colleagues have developed and applied what they call a Variant-to-Gene-to-Program (V2G2P) approach which prioritizes the pathways shared by multiple risk loci. Using CRISPRi-Perturb-seq and machine learning, they found connections between CAD risk and 41 variants in endothelial cells, which line blood vessels. Several of these variants regulate endothelial cells' response to blood flow, and represent new CAD mechanisms. Learn more in Nature: https://lnkd.in/efcmYbNQ. #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

Integration of population genetics (GWAS) and single-cell methods (Perturb-seq), and it's amazing! These approaches can bring computational/statistic results and highly complex biological contexts all together.

Understanding the Role of DNA Testing in Personalized Medicine. What is Personalized Medicine? Personalized medicine is the science that uses genetic profiles to determine if a specific person can benefit from a medical approach that will pro-actively determine prevention & treatment of conditions. What is a Gene ? Your gene is an amazing part of your DNA profile. It is a basic part of all individual’s DNA profile and is similar in almost all people. However, there are part of the genetic make-up that have genes that vary from person to person. This is what makes a person unique. How does the genetic DNA influence your health? Your genetic variations will influence your DNA changes. In certain rare situations, the variation of your genetic DNA can cause a medical condition. Some examples of these conditions are sickle cell anemia, Tay-Sachs and even a pre-disposition to cancer. If there is a family history of these genetic conditions, It is recommended that an individual should consult and test for the possibility of these genetic variations impacting them. SmarTest Labs: 501 N. Frederik Avenue, Suite 106, Gaithersburg Maryland 20874. Phone: 301-686-8566 Visit Website: https://lnkd.in/efbfQYkP #smartestlabs #DNAtesting #drugtesting #Alcoholtesting #DNA #genetic #Testing #Lab #Maryland

?? Breaking News ?? Exciting development in the medical field! The first gene-editing therapy for Beta thalassaemia could be a game-changer. According to BBC, this groundbreaking treatment brings hope for a potential cure for this genetic disorder. This remarkable advancement showcases the power of science and innovation in transforming lives. It's a testament to the relentless pursuit of finding solutions for challenging medical conditions. The promising potential of gene-editing technology to address genetic disorders like Beta thalassaemia is a huge leap forward in the field of medicine. This news gives hope to millions affected by this condition and underscores the significance of continued research and investment in life-saving therapies. Let's stay tuned for further updates on this remarkable progress in the fight against genetic disorders. #GeneEditing #MedicalInnovation #BetaThalassaemiaCure Source: BBC (Link) https://ift.tt/vyUi5Ch

Their research will be focused on leveraging the DNA break-mapping technology to investigate the impact of genomic instability in the development of ALS. #ALS #biosciences #celltherapy #genetherapy https://lnkd.in/eW9r2pb2

Revolutionize your single-cell studies with Paired-Tag! Track RNA and epigenetic changes in individual cells. Study differentiation, aging, and disease - without cell sorting! Gain deeper insights into gene regulation. #Epigenetics #Multiomics https://epigenome.us

Ariel Kantor, PhD, our Senior Vice President of Business and Corporate Development, shares our vision for the future of genetic medicine. At ReCode Therapeutics, we are leveraging enhanced delivery technologies, novel payloads, and AI/Machine Learning-based approaches to revolutionize the treatment of genetic diseases. Ariel explains, "The dream would be to have a scenario where we can [...] go from sequence to vial. Our goal is to engineer specific payloads that can be encapsulated and delivered to treat a broad range of conditions. This approach has the potential to transform the landscape of genetic medicine and provide new options for patients with debilitating genetic conditions.” #GeneticMedicine #TeamReCode

???????? ?????????????? ???? ???????????????? ???????????????????? – ?????????????????? ?????????????? ???????????????????????? At NeuroGen Healthcare’s GGMC lab, we are processing genetic samples as a part of our daily routine. With the MGI DNBSEQ-G50, in regular use, we’re consistently running batches of patient samples with precision and care, delivering crucial insights through Whole Exome Sequencing, Mitochondrial DNA Sequencing, and custom Panel Sequencing. ??Our GGMC is now equipped with advanced genomics facilities, including: 1. ?????? ???????????? ???????????????? ??????????????????, ???????????? ?????? ?????????? ???????????? ???????????????????? 2. ?????? ?????? ????????????-??50 ?????????????????? ?????? ?????????? ?????????? ???????????????????? 3. ?????? ???????????????? ??????????????????, ?????????????? ?????? ???????????? ?????????? ???????????????????? Whether it's for rare diseases or routine genetic tests, we carefully handle each batch. Our skilled team makes sure every test gives useful results, helping patients and doctors make the right decisions. #Genomics #GeneticTesting #WholeExomeSequencing #MitochondrialDNA #MedicalResearch #HealthcareInnovation #GeneticDiagnostics #AdvancedSequencing #RareDiseases #NeuroGenHealthcare #PrecisionMedicine #GeneticCounseling?