The Francis Crick Institute’s Post

While Gaucher disease can affect anyone, it is especially common among people of Ashkenazi (Eastern European) Jewish descent. Researchers believe as many as 1-in-10 of this population are carriers of Gaucher disease. Carriers do not have Gaucher disease, but they can pass the Gaucher gene on to their children. The American College of Obstetricians and Gynecologists recommends special types of prenatal tests for Ashkenazi Jews. #gaucherdisease #gaucher #gaucherawareness #nationalgaucherfoundation #gaucherfoundation #rarediseases #rarediseaseawareness

Cryopyrin-associated autoinflammatory syndromes (CAPS) are rare diseases related to a defect in the cryopyrin protein. CAPS diseases usually start in very young children. CAPS include Neonatal Onset Multisystem Inflammatory Disease (NOMID), Muckle-Wells Syndrome (MWS) and Familial Cold Autoinflammatory Syndrome (FCAS).  CAPS is caused by a gene mutation that may be inherited from only one parent. The gene mutation causes a defect in the cryopyrin protein, which helps control inflammation. Males and females from all ethnic groups may have CAPS. Submissions are open for the upcoming issue. You may submit case reports, case studies, and research or review papers. Submit to: editor.geneticsandheredity@journalmaples.org Follow our page: https://lnkd.in/dd-AwMD8 Visit us: https://lnkd.in/dhyieEcT (Source: internet) #genetic #heredity #research #genes #genomics #cryopyrinassociatedautoinflammatorysyndromes #geneticsequence #diagnosis #submissions #openaccess

**Gene-Silencing Tool Shows Promise as Future Therapy Against Prion Diseases** ============================================================ Researchers at MIT have developed a gene-silencing tool that has shown potential as a therapy against fatal prion diseases. Prion diseases are caused by infectious proteins that can cause brain degeneration and death. The new tool, called CRISPR-Cas13, is designed to target and destroy the genetic material that produces these infectious proteins. In a study published in the journal **Nature**, the researchers demonstrated the effectiveness of CRISPR-Cas13 in silencing the gene responsible for prion disease in mice. The tool was able to reduce the amount of infectious protein in the animals' brains by up to 90%. The researchers believe that CRISPR-Cas13 could be used to develop a therapy for human prion diseases, including Creutzfeldt-Jakob disease and scrapie. **Source:** [https://lnkd.in/giCk9wCZ) #PrionDiseases #GeneSilencing #CRISPR #Therapy #MITResearch #HealthSciences

WEHI (Walter and Eliza Hall Institute of Medical Research) researchers have found that a genetic change of MLKL increases risk of uncontrolled inflammatory response. 💭 Interested? Check it out through the link below 👇 #genetic #inflammatory #celldeath

Pathogens bind to host cells in order to spread infection and survive the immune system’s response. To better understand the mechanisms of diseases spread by vectors like ticks and mosquitoes, Yale University researchers used a library of 3,324 human proteins and observed their interactions with 82 pathogen samples, including Lyme disease. They identified 1,303 interactions between human proteins and pathogens involving four key roles: host sensing, cell invasion, tissue colonization, and immune evasion. One key finding was that the epidermal growth factor triggers gene expression in Lyme bacteria, increasing the threat. Learn more about the science via Cell Press: https://lnkd.in/epwdGYZY #projectlyme #lyme #tickbornediseases #coinfections #lymediseaseawareness #health #tickbite #medicine #immunesystem #pathogens #science #research

Methods and applications of genome-wide profiling of DNA damage and rare mutations In this Review, Pfeifer and Jin discuss currently available methods for genome-wide mapping of DNA damage and rare mutations and illustrate how these technologies are being used to study mechanisms of mutagenesis linked to the aetiology of human diseases. https://lnkd.in/g84BT-RT

Kameswaran Surendran, PhD, Associate Professor of Basic Biomedical Sciences at the University of South Dakota, and colleagues in the Surendran Lab assess the cellular and genetic basis of kidney diseases associated with Alagille Syndrome. Here he talks about what his lab is working on in Alagille syndrome. Watch the video below ⬇️ #AlagilleSyndrome #ALGS #Genetics Alagille Syndrome Alliance

#InternationalAutoinflammatoryAwarenessMonth officially launched in 2015 and has been growing ever since! #Autoinflammatory diseases are caused by genetic mutations in molecules that are involved in regulating the innate immune response. Autoinflammatory Alliance hopes medical professionals consider these diseases when patients present with symptoms such as: fevers, rashes, and pain. Genetic testing and other evaluations can assist in a clinical diagnosis. https://hubs.li/Q01Zjzn90 includes ways you can get involved this month! #Genetics #GeneticCounseling #PrecisionMedicine

In a new article, we explore why #GeneTherapies have the potential to help combat genetic #mutations and rare diseases. #PfizerUK ⤵️