Scientists use whole exome sequencing to discover a new rare genetic disease
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 Base editing corrects genetic mutation responsible for severe form of inherited epilepsyBase editing corrects genetic mutation responsible for severe form of inherited epilepsy
 
University of Virginia School of Medicine scientists have used a next-generation form of gene editing to fix the underlying cause of a severe form of epilepsy in lab mice.
 
 
 Scientists use whole exome sequencing to discover a new rare genetic diseaseScientists use whole exome sequencing to discover a new rare genetic disease
 
Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease.
 
 
 Innate immunity genes may influence earlier breast cancer onset in BRCA1 carriersInnate immunity genes may influence earlier breast cancer onset in BRCA1 carriers
 
Damaging variants in genes involved in a rapid immune response (innate immunity) are significantly linked to earlier breast cancer onset in carriers of the harmful BRCA1 genetic mutation, reveal preliminary findings published online in the Journal of Medical Genetics.
 
   Sponge and sea slug partnership yields a new anticancer molecule with drug design promiseSponge and sea slug partnership yields a new anticancer molecule with drug design promise
 
Researchers identified jorumycidine, a new hexacyclic marine alkaloid from the nudibranch Jorunna funebris and its dietary sponge, Haliclona sp., and demonstrated that it exhibits potent nanomolar cytotoxicity against multiple myeloma cells. They also proposed a new biosynthetic route involving cross-species metabolic interplay and an unusual oxazolidine ring that may help stabilize a pharmacologically important scaffold.
 
   JMIR Publications' new article showcases the transformative potential of precision oncologyJMIR Publications' new article showcases the transformative potential of precision oncology
 
JMIR Publications today announced the release of a timely new article in its News and Perspectives section, showcasing the transformative potential of precision oncology.
 
   The tumor microenvironment and cancer therapyThe tumor microenvironment and cancer therapy
 
Understanding the cancer ecosystem reveals tumor microenvironment interactions, offering new insights for precision oncology and immunotherapy advancements.
 
 Study proposes genetic basis for autism’s strong sex bias
 
Study proposes genetic basis for autism’s strong sex biasAutism has a significant and enduring sex bias, with roughly four boys diagnosed for every girl. For many years, experts have believed this disparity arises primarily from diagnostic inequities because much of autism research - and the screening tools that grew out of it - has historically focused on boys, effectively setting a male standard for what autism "looks like."
 
 
 Novel compound clears harmful protein, protects neurons in frontotemporal dementia models
 
Novel compound clears harmful protein, protects neurons in frontotemporal dementia modelsNew research from Washington University School of Medicine in St. Louis adds to growing evidence that helping brain cells break down and eliminate their own cellular waste is a promising treatment strategy for a variety of neurodegenerative diseases.
 
 
 Researchers identify markers of lymphoma recurrence
 
Researchers identify markers of lymphoma recurrenceFollicular Lymphoma (FL) is a type of blood cancer and a form of non-Hodgkin's lymphoma. Thanks to new treatment breakthroughs, about 80% of FL patients have a survival rate of more than 10 years.
 
 
 Toxic RNA drives progressive heart damage in myotonic dystrophy
 
Myotonic dystrophy type 1 (DM1) is the most common cause of adult-onset muscular dystrophy, a genetic disorder that leads to muscle weakness and wasting, but also affects the brain, the gastrointestinal tract and the heart.
 
 
 PRISM ALS: A new global collaboration to expand patient-derived stem cell models and accelerate treatments
 
A new global initiative launched today aims to close a critical gap in ALS/MND drug discovery - current cell models used for testing treatments do not currently reflect the diverse nature of the disease - that affects both researchers developing therapies and the people urgently waiting for them.
 
 
 Lung tumors shift identity making treatment more difficult
 
A new study co-led by the Institute for Systems Biology (ISB) shows that some lung cancers can change identity as they evolve, shifting from one cancer type to another in ways that may make them more aggressive and harder to treat.
 
 
 Mutations in RNU2-2 gene linked to neurodevelopmental disorders
 
A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).
 
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