Sickle Forward’s Post

Science Q: What are "downstream" genes? When a gene is activated or turned on, it can trigger other genes to turn on as well, creating a chain reaction – like the sequence of steps you follow in a recipe. The genes that get turned on later in this process are called “downstream genes.” Understanding downstream genes helps researchers grasp how certain actions or conditions affect the whole sequence of biological events. This can help them develop new approaches and therapies to treat cancer and other diseases. #BiologyExplained #BiomedicalResearch #GenomicResearch

TLDR: the paper on my family's gene came out, link below. *cue GC nerd excitement In 2008 I learned what the mitochondria were. In 2009 I was diagnosed with mitochondrial DNA depletion syndrome by muscle biopsy. In 2015 we learned it was caused by the gene GUK1. In 2017 I became a genetic counselor. In 2022 I started seeing mitochondrial disease patients as a GC. And TODAY I am SO BEYOND thrilled to announce that my family's paper about our candidate gene was published! #Proband2 Next step: repurposing a drug *hopefully by 2025! https://lnkd.in/dDfuxtW3

We look beyond the boundaries of currently established science. ❓ What if #epigenetics worked through a central control system? ❓ What if we could interrogate that system and therapeutically intervene to precisely regulate gene expression? ❓ What if we could target and control genes – including those that have been historically intractable – to treat and cure almost any human disease? We are answering these questions with the OMEGA platform. We aim to address disease at its source by controlling genes pre-transcriptionally. Learn how we are pioneering a new class of programmable epigenomic #mRNA medicines here: https://brnw.ch/21wGLXk

Heartfelt News: The FDA's green light for Casgevy and Lyfgenia marks a crucial breakthrough in sickle cell disease (SCD) treatment. For families enduring the agony of SCD, this approval offers a glimmer of hope. Casgevy's pioneering genome editing technology is a game-changer, symbolizing a leap forward in gene therapy. With around 100,000 affected individuals in the U.S., predominantly in African and Hispanic American communities, the impact is profound. Behind every statistic lies a story of pain, resilience, and hope. Families facing SCD navigate a challenging journey, and these groundbreaking therapies are a lifeline. In this quest for transformative treatments, OmniBRx Biotechnologies Inc. USA stands as a beacon, supporting scientists dedicated to eradicating life-threatening diseases. Let's unite in celebrating progress and honoring the strength of those who've endured the heartache of sickle cell disease. OmniBRx Biotechnologies Inc. USA www.OmniBrx.US #SCD #FDA #genetherapies #celltherapy #bioreactor Image Source: Sky News

"Within the next 10-15 years, we can expect that essentially all the variants and genes that are mutable to a disease phenotype will have been identified. Gene and pathway functional studies in model organisms will continue to play a key role in translating these discoveries to the benefit of patients well into the future." write Phil Hieter, Philippe Campeau and Kym Boycott in DIA Global Forum. Will this finally mean cures for currently incurable rare diseases? #rarediseases #geneticvariants #modelorganisms #translationalmedicine #precisionmedicine

🚨 New from the Van Den Bosch Lab, published in Brain! 🧠 The team studied the role of the #PMP22 - a gene that codes for a protein in the myelin sheath, the protective cover of peripheral nerves - which is disrupted in Charcot-Marie-Tooth (#CMT) disease. As the PMP22 protein is produced by Schwann cells, the lab used human cells and animal models of CMT to understand the impact of PMP22 duplication on developing Schwann cells. Discover what they found out 👉 https://lnkd.in/eszUdJvX

Tomorrow I'm heading to Baltimore for this year's ASGCT conference. A friend asked me what innovations Gator Bio will have in gene therapy this year, and I told him there will be many surprises. One of these is a novel hybridization BLI immunochemical assay for genome integrity assessment (Full/Partial/Empty AAV ratios), different from dPCR, ddPCR and other methods, which is the only assay on the market today that can independently titrate the positive and negative strands. This method could further be used to titrate RNA without the need for reverse transcription, making analysis of lentivirus and mRNA-loaded LNPs easier. Look forward to meeting you at booth #631 and welcome to visit three posters (May 8th, poster #563; May 9th, poster#952; May 10th, poster#1854) #ASGCT #AAV #GatorBio #BLI #GeneTherapy #Hybridization #BLIimmunochemical #Full/Partial/Empty #Integrity #Lentivirus #LNPs #mRNA #qPCR #ddPCR

C1S, also known as complement component 1s, is a protein that plays a crucial role in the complement system, a part of the immune system. It is encoded by the C1S gene. The complement system consists of a group of proteins that work together to defend the body against infections and help remove damaged cells and immune complexes. C1S is a serine protease and is a component of the C1 complex, the first component of the classical pathway of the complement system. The classical pathway is typically activated by the binding of antibodies to antigens on the surface of pathogens or other targets. Once activated, the classical pathway triggers a cascade of enzymatic reactions that result in the activation of downstream complement components, leading to immune responses such as inflammation, opsonization, and cell lysis. https://lnkd.in/gZpFf8sj #C1S #ComplementComponent1s #ImmuneSystem #C1SGene #C1Complex #ClassicalPathway #AlphaLifetech #ImmuneResponse #GeneExpression #BiomedicalScience #MedicalTechnology #Immunodeficiency #PathogenDefense #AntigenBinding #ImmuneComplexes #CellularResponse #HealthScience #DiseasePrevention

"Ready or not, here I come" sang the Delfonics in 1968 (and the Fugees much later in 2010) and it seems that the same could be said for genomic newborn screening as it seems increasingly a question of when rather than if. In this new publication, Betzler et al take a look at the list of proposed gene lists that different genomic screening pilots have chosen to see what has been chosen and why. Could a consensus on gene targets ever be reached? Comparative analysis of gene and disease selection in genomic newborn screening studies Isabel Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven Garbade, Christian Schaaf, Dr. med. Heiko Brennenstuhl, MD, MBA https://lnkd.in/eDFb94HR #newbornscreening #WGS #WES

So there are 3 characters at a bar: ClinVar, a Super Duplication and Polycystic Kidney Disease. After more than 30 years with no diagnosis, a Discovery DNA Exome finds a frameshift in a superduplication region of the PKD1 gene. Now, a paper in 2019 showed insufficient covering using WES at that time, but then that was in 2019. ClinVar has an empty space for variants in this region so that wasn't helpful in this case. With targeted enrichment and some other tweaks, the frameshift mutation clearly looks damaging. The paper said genomes have better coverage - well the patient had one of those direct to consumer genomes that missed this. Patients should be aware of what they are getting when they get DNA sequencing. #genomics #canada #alberta