Gene Solutions’ Post

In BRCA-mutation carriers, defective estrogen signaling is associated with decreased genome stability and induces tumor development with conspicuous specificity for female organs; breasts and ovaries

In this month’s edition of OGT’s publications in focus, learn about how CytoCell® FISH, SureSeq™ NGS and CytoSure® array products are being used in the latest papers and articles* from our customers and partners in the field. 🔬 “BCR::ABL1-like acute lymphoblastic leukaemia: a single institution experience on identification of potentially therapeutic targetable cases” (This study utilised CytoCell break-apart probes for TCF3::PBX1, CRFL2, JAK2, EPOR, ABL1, ABL2 and, additionally, for IGH and P2RY8 in the CRLF2 rearranged (CRLF2-r) cases) View publication: https://lnkd.in/eRfTzGMa 🔬 “PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma” (Affected skin DNA was sequenced on a targeted next-generation sequencing panel using a SureSeq custom panel of 250 candidate genes of interest) View publication: https://lnkd.in/em9xv8ur 🔬 “17q21.31 microduplication syndrome in a patient with autism spectrum disorder, macrocephaly, and intellectual disability” (During this study aCGH was performed using the CytoSure ISCA 8 × 60K v.2) View publication: https://lnkd.in/e4niCFVU * Providing links to these publications is intended for educational purposes only and does not replace independent professional judgment. Statements of fact and opinions expressed are those of the publications’ authors and, unless expressly stated to the contrary, are not the opinion or position of the Oxford Gene Technology Group (OGT). OGT does not endorse or approve, and assumes no responsibility for, the content, accuracy or completeness of the information presented in these publications.

Our Selective Organ Targeting (SORT) next-generation lipid nanoparticle (LNP) platform has been a cornerstone in our research efforts to restore ciliary function in  the lungs of people with PCD caused by pathogenic mutations in the DNAI1 gene. Developed in collaboration with the University of North Carolina at Chapel Hill and UT Southwestern Medical Center, our mRNA-based therapy is optimized and formulated in SORT LNPs, which are engineered with a biochemically distinct fifth lipid to help the body “sort” and direct the LNPs to targeted cells and organs.  Preclinical data show that our DNAI1 mRNA leads to DNAI1 protein production in target cells and can rescue ciliary function. In cell-based knock-out models, the restored ciliary function persisted for weeks after the last treatment. Through continued research, we aim to develop a much-needed therapy for people with PCD and highlight the vast potential of mRNA-based therapies for other rare and common genetic diseases. Learn more about this project below: https://lnkd.in/gyjDRmje

Excited to further explore Gene and Cell Therapy at the #SAPA-DC Scientific Forum. Appreciation to Dr. Chuanwen Lu, President Elect of SAPA-DC, for inviting #Biocytogen to join the discussion! #Science #CellTherapy #GeneTherapy #ASCGT2024 #Baltimore #Immunology #Preclinical #MouseModels #Pharmacology #DiseaseModels #ImmunoOncology #Immunotherapy #Therapeutics #AntiTumorTherapy #CancerTherapy #CancerResearch

ARM commends the U.S. House of Representatives for passing legislation to reauthorize the FDA's Rare Pediatric Disease Priority Review Voucher (RPD PRV) program for five years.  Genetic abnormalities are responsible for 80% of rare diseases, and nearly 70% of these conditions present during childhood. However, approximately 95% of those disorders lack an FDA-approved treatment. For many rare disease patients, the availability of cell and gene therapies offers hope for a cure. RPD PRVs enable biotechnology companies developing treatments for rare pediatric diseases to continue to invest in bringing cell and gene therapies to patients in need.  What’s next? The Senate HELP Committee will mark up the Creating Hope Reauthorization Act (S. 4583) on September 26. ARM continues to urge Congress to reauthorize the RPD PRV Program.  For more information, check out ARM’s one-pager on the impact of this program. https://lnkd.in/eVZCGGuu #cellandgenetherapy

More encouraging interim results in the CNS space this week from Lexeo Therapeutics and their LX2006 AAV gene therapy for Friedreich ataxia (FA) cardiomyopathy. Here are a few of my thoughts: 🌟 Similar to what we saw for Huntington’s disease last week, the FA pipeline is small with very few therapies specifically targeting cardiomyopathy. All positive data should be welcomed for the patients, caregivers, and families of those affected. 🌟 It's great to see regulatory incentives for development of rare disease therapies in action. The asset has been granted Rare Pediatric Disease designation, along with Fast Track designation, and Orphan Drug designation. 🌟 As with all severe progressive diseases, I support the use of natural history data for analyses, especially in the early phases of development. Lexeo's press release is attached below.

4 important approvals by FDA this week: - expanded approval for Sarepta Therapeutics' #Elevidys, a gene therapy to treat ambulatory and non-ambulatory individuals aged four and older suffering from Duchenne muscular dystrophy (DMD). Of note, the primary endpoint of improving motor function failed, but the secondary endpoints were met.https://https://lnkd.in/eyyS8XNh. - Merck's #Keytruda was authorized in combination with chemotherapy followed by the PD-1 inhibitor as a monotherapy in patients suffering from primary advanced or recurrent endometrial cancer (40th U.S. indication approved).https://lnkd.in/eXZSnayr. - accelerated approval for GENFIT / Ipsen 's #Iqirvo (elafibranor) as a first-in-class treatment for primary biliary cholangitis (PBC). a rare liver disease. https://lnkd.in/e725xksQ. - approval for AbbVie's #Skyrizi (anti-IL23 mA ) to treat moderately to severely active ulcerative colitis in adults. https://lnkd.in/erC6Ga2z

Genetic Engineering & Biotechnology News reports encouraging Phase I #ClinicalTrial results of an mRNA vaccine developed at the University of Florida for potential treatment of #Glioblastoma. In a small first-in-human trial, this personalized vaccine reprogrammed the immune system to attack tumors, achieving rapid and robust responses. Initial results mirror those from preclinical and canine studies. Next step: an expanded Phase I trial with adults and children. https://lnkd.in/ekx9FBfT #CancerResearch #Immunotherapy #MedicalInnovation #Glioblastoma #mRNA #ClinicalTrials #MERITCRO #YourClinicalTrialEndpointExpert

So much gratitude to California Institute for Regenerative Medicine (CIRM) for recognizing our rock-solid science and bringing us one step closer to a long-awaited clinical trial in AAV9 gene therapy. We absolutely cannot do any of this without funding from entities like CIRM. Rare Diseases need and deserve more CIRM's. We are at the point in AAV technology where we can move more quickly, use learnings from previous disorders--rinse, repeat--different gene and endpoints, but otherwise much the same. We have the science and the ability to move faster. What we lack, still, is funding. 50 rare gene therapies still sitting on shelves since 2021. #curecmt4j #ruduffenough As always, we couldn't do this without Elpida Therapeutics and Terry Pirovolakis driving it all. #rareiscommon

Neurophth completes patient enrollment in phase I/II trial of Opvika to treat Leber hereditary optic neuropathy