Smith Family Clinic for Genomic Medicine’s Post

With #DRAGEN v4.0, you can further investigate complex PGx genes to determine the optimal genotype and corresponding metabolism status associated with the genotype for 20 Tier 12 PGx genes. #DRAGEN v4.0 PGx research capabilities provide powerful insights such as identification of individual genotypes and gene expression associated with optimal metabolism. #DRAGEN #genomics #precisionmedicine https://lnkd.in/d8FRUMVn

Pharmacogenetics and pharmacogenomics are closely related fields that both deal with the interaction between genes and drug response, but they focus on different aspects: Pharmacogenetics: Concentrates on how single gene variations affect an individual’s reaction to drugs. Aims to understand how these genetic differences can influence drug metabolism, efficacy, and toxicity. Helps healthcare providers select the most suitable medication and dosage for a patient, improving treatment outcomes and reducing adverse reactions. Pharmacogenomics: Takes a broader approach by considering all genes in an individual’s genome. Predicts responses to drugs across multiple therapeutic areas, not just based on a single gene. Enables the development of comprehensive treatment plans tailored to the patient’s entire genetic makeup. In essence, pharmacogenetics is a subset of pharmacogenomics, focusing on specific genetic variations and their direct impact on drug response, while pharmacogenomics looks at the bigger picture of how the entire genome can influence drug efficacy and safety. #pharmacogenetics #pharmacy #drugcomposition #genetics #genomics

Thoughts on this? >> Epigenetic Editor CHARMs Prion Disease - Genetic Engineering & Biotechnology News >> Comment below! >>> lqventures.com #strategy #competitiveintelligence #marketing #pharmaceutical #pharma #competitivemarketing #biotech #healthcare

The Crucial Role of Pharmacogenetic testing in Thiopurine Therapy 🔬 Discover the crucial role of #TPMT and #NUDT15 in #ThiopurineTherapy in our latest article. Understand why genetic testing is essential to optimise treatment, reduce risk, and save costs. Read now ➡️ #Pharmacogenetics #CostEffectiveness #PharmaMarketAccess https://lnkd.in/ddfaurts

Genetic priority score (GPS) integrates clinical variants, GWAS, & coding variants to prioritize 19K+ gene-disease pairs. Key innovations that were outlined in this summary of the article published in Nature Portfolio:   🔬Billions spent on failed trials w/ ineffective targets 🧬Genetic evidence predicts 2x higher drug approval   Highlights of GPS innovations: 🔹Phenotype-specific multi-omics integration 🔹Directionality scoring boosts prediction accuracy 🔹Public browser with validated therapeutic rankings   Read the full summary here https://lnkd.in/d6Hbr97F #genetics #geneticpriorityscore #genes #healthcareinnovation #dna

Thoughts on this? >> Epigenetic Editor CHARMs Prion Disease - Genetic Engineering & Biotechnology News >> Comment below! >>> lqventures.com #strategy #competitiveintelligence #marketing #pharmaceutical #healthcare #competitivemarketing #biotech #pharma

Gene&Cell Therapy >> Denali touts more biomarker data with accelerated approval in mind: Heparan sulfate, a potential new surrogate biomarker for neurodegenerative diseases, is getting a lot of love from biotechs this week. Denali Therapeutics on Wednesday presented new data for its lead program, aiming to prove how reductions in heparan sulfate, a carbohydrate whose excess and toxic buildup is caused by genetic mutations, can reliably predict a clinical benefit for patients. The company’s update came one day after Ultragenyx revealed data for an experimental drug in a different disease for which heparan sulfate may also be a potential surrogate biomarker. Both companies presented at the annual WORLDSymposium conference, which focuses on research in lysosomal storage disorders. Denali’s program is designed to treat Hunter syndrome, while Ultragenyx’s drug is an AAV gene therapy looking to correct the mutation in Sanfilippo syndrome type A. Carole Ho For Denali, the data showed that the program, called DNL310, can normalize heparan sulfate levels in the cerebrospinal fluid while sustaining and improving a broad range of behavioral skills out to two years, chief medical officer Carole Ho told Endpoints News. In 14 patients who have at least 104 weeks of follow-up, the average change from baseline in a composite score known as the Vineland Adaptive Behavior Scales II was 89 points. Ho wouldn’t say whether these data move the needle toward a filing with the FDA. Denali has not publicly shared such a timeline. But she noted it “demonstrates the importance of CSF HS as a critical biomarker demonstrating likelihood of clinical benefit based on the totality of the data.” Denali already presented two-year neurofilament data for DNL310 in June and reaffirmed its data on Wednesday, saying again the program resulted in an average 64% reduction in serum neurofilament among patients. Neurofilament is a buzzy surrogate biomarker being researched by many biopharma companies following the approval of Biogen’s ALS drug Qalsody for a genetic subset of ALS last year. For now, Denali is continuing the open-label Phase I/II study with the hopes it can serve as the basis for a potential accelerated approval. The company is also enrolling a Phase II/III trial that could serve as a potential confirmatory study should the FDA approve DNL310, Ho said. Discussions with the agency remain ongoing. “We’re still working with the FDA to chart this path towards accelerated approval,” Ho said. “However, at this time, there hasn’t been a clear path with the FDA.” #lucidquest #genetherapy #celltherapy

There have been more advancements in treating elevated lipoprotein(a), with the first human trials of the drug lepodisiran producing remarkable results - an average reduction in Lp(a) of 94% for 48 weeks. We may soon be seeing this genetically based condition treated through a once-a-year subcutaneous injection. #lpa #clinicaltrials #lepodisiran #elililly https://lnkd.in/ePFnKm9u

There are some really smart people out that expect human life expectancy is going to dramatically elongate in the next generation, and it's developments such as gene editing and weight-regulating drugs that will help us get there. The world of medicine continues to innovate, and 2023 was another breakthrough year. #medicine #weightloss #geneediting #drugs #healthcare

The high cost of failed drug trials underscores the need to prioritize promising targets. New research presents a Genetic Priority Score (GPS) integrating genetic data to rank 19,365 genes for 399 treatment indications. Key findings: 🔹 GPS uses genetic evidence like clinical variants and GWAS to score gene-disease links 🔹Genes with higher GPS are 2x more likely to be approved treatment targets Added directional info further boosts accuracy (GPS-DOE) Our summary of this publication, which was analyzed using Geneyx Analysis aims to look at the key advantages of the GPS approach. You can read the summary here. https://lnkd.in/da94QdVt #genetics #GPSapproach #genes #healthcareinnovation