Journal of Inherited Metabolic Disease’s Post

We are honored to receive such high praise from CMTA Strategy To Accelerate Research (STAR) Board member Stephan Zuchner, MD, PhD, FAAN! CMTA is proud to support, in conjunction with the Inherited Neuropathies Consortium (INC), Dr. Züchner and his team at the University of Miami in their efforts to close the CMT diagnostic gap (when a person has CMT but is unable to obtain genetic confirmation of their disease - often due to having variants of unknown or uncertain significance, (VUS). Using the GENESIS genomic research platform and database, Dr. Züchner and colleagues are analyzing data and DNA sequences to understand what a VUS might mean for the CMT patient, and this sometimes leads to the discovery of a new CMT gene. This critical work has led to the discovery of more than 25 CMT genes in recent years. Is your type of CMT unknown despite all attempts at genetic testing? If so, CMTA has a research opportunity for you that might lead to finding your gene/type of CMT. Learn more: https://lnkd.in/euiRNhVd #CMTASTAR #CMTResearch #CMTAFamily #CMTStrong

Genetic link between Parkinson's and inflammatory bowel disease The team used advanced genomic analysis techniques to investigate the genetic overlap between IBD and PD. Their findings point to mutations in the LRRK2 gene as a common element linking both conditions and identify novel genes that are likely to be affected in people experiencing both IBD and PD. The researchers used a variety of computational methods to uncover significant associations between the LRRK2 gene variants and the co-occurrence of IBD and PD, including the network-based heterogeneity clustering approach, which they have demonstrated to be highly effective for gene discoveries in small cohorts that cannot be analyzed by traditional gene association methods. Their analysis also revealed several pathways related to immunity, inflammation, and autophagy, the body’s cellular recycling system, that are involved in both conditions. #ScienceMission #sciencenewshighlights https://lnkd.in/d9mxWTs3

Very interesting concept. What are the methods to prove it?

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

Single cell analysis can unlock new levels of your cellular research by providing insight into cell heterogeneity, cell expression profiles, disease mechanisms, and unique cellular dynamics leading to advancements in basic biological research and potential clinical applications of your work. The #BDBiosciences #Rhapsody Single Cell Analysis System can do just that. The Rhapsody can help to identify and characterize rare cell populations, transitional states, and cellular subtypes within a larger population, identify key genes, pathways, and cellular interactions involved in disease progression and can help identify dynamic changes in gene regulation. With the purchase of the Rhapsody at #fisherscientific you can redeem an analysis kit at no additional cost for saving from $1,000 to $3,000. Ask me how. https://lnkd.in/g69ma9kS #singlecell #singlecellanalysis #cellbiology #cellculture #geneexpression

Exciting News! We've just published a new blog post detailing our latest enhancements in VarSeq, focusing on managing gene preferences and preferred transcripts. This update is a game-changer for NGS analyses, providing users with unparalleled control and customization options. Discover how the new Gene Mutations and Preferences tab in VSClinical ACMG simplifies managing user gene preferences, allowing easy editing of preferred transcripts, inheritance models, and disease associations with just a few clicks. Whether you're a seasoned geneticist or new to genomic data analysis, these updates make VarSeq more intuitive and user-friendly than ever before. Read more here: https://bit.ly/3U7Jssz #Genomics #NGS #Bioinformatics #GoldenHelix #VarSeq #GeneticAnalysis

Empire Genomics’ CRLF2 Break Apart FISH Probe is designed to detect rearrangement of the CRLF2 gene at chromosomal regions Xp22.33 and Yp11.32.    Overexpression of Cytokine Receptor-Like Factor 2 (CRLF2) has been found in approximately 50% of Ph-like B-ALL cases. This overexpression has been linked to translocations involving IGH, t(X;14) or t(Y;14).    Rearrangements involving CRLF2 are extremely prevalent in children with Down syndrome-associated B-ALL (DS-ALL) with 30%-50% of DS-ALL children having a CRLF2 rearrangement. In contrast only 5%-10% of ALL patients without Down syndrome have this rearrangement.  Let us know which FISH Probes you want to see next! Search Over 1 Million Biomarkers - CRLF2 Break Apart FISH Probe - https://lnkd.in/dgGcXTKA

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

NEW ioCells ALERT! Today, we expand our panel of opti-ox powered Parkinson’s disease model cells with ioGlutamatergic Neurons carrying a heterozygous A53T mutation in the alpha-synuclein gene. Pair these disease model cells with their genetically matched wild type control to study the impact of mutations related to Parkinson’s disease in consistent, defined and scalable human iPSC-derived cells. Discover ioGlutamatergic Neurons SNCA A53T/WT: https://hubs.ly/Q02DGGwT0 #research #DrugDiscovery #ParkinsonsDisease #iPSC #optiox #ioCells

Diagnosing stromal corneal dystrophy (SCD) involves identifying specific clinical features. Confirmation often requires detecting a heterozygous pathogenic variant in the DCN gene via molecular genetic testing if clinical and electron microscopy findings are inconclusive. 👁️ Testing can include gene-targeted methods (single-gene, multigene panels) and comprehensive genomic approaches (chromosomal microarray, exome/genome sequencing). 👨⚕️🧬 Gene-targeted testing is used when specific genes are suspected, while genomic testing is broader. Due to its distinct phenotype, SCD is often diagnosed with gene-targeted testing. However, if the phenotype is similar to other inherited disorders with congenital corneal opacification, genomic testing is preferred. 🔬 #diagnosis #eyecare #eyehealth #eyematter