Invitae’s Post

A groundbreaking, first-in-class medication specifically targets the root cause of HCM in many patients. This new therapy aims to reduce abnormal heart contractions caused by genetic mutations, potentially slowing disease progression. This is a promising development for those living with HCM. #HCM #HeartHealth #MedicalBreakthrough #TreatmentUpdate #QualityOfLife #Cardiology #FDAApproval #Innovation #HealthcareAdvancements #HeartTreatment

Endometriosis is known for its complex manifestations and elusive phenotypes. Pathophysiological explanation with current theories fails to encompass all scenarios, which urges for further exploration of genetic and autoimmune factors. The spectrum of endometriosis presentation, ranging from superficial appearance to significant fibrosis and scarring, makes diagnosis and treatment complex. Therefore, it is important to tailor treatment by considering each patient's distinct symptoms, employing advanced imaging techniques, and providing an ongoing care approach that includes the monitoring of co-existing conditions like IBS and interstitial cystitis. Read more here: https://ow.ly/1Pcq50Qt3TG #Endometriosis #OBGYN #WomensHealth #PelvicPain

A recent article on the important role of neutrophil signalling and activity in the development of IBD highlights the granulocyte's potentially important role in the pathology of chronic inflammatory diseases. These novel and thought provoking results support Immunnyx's approach to targeting the neutrophil in IBD and inflammatory disease. Stay tuned for more updates on how Immunnyx is at the forefront of advancing precision medicine for autoimmune conditions.🚀 #Immunnyx #IBD #InflammatoryBowelDisease #PrecisionMedicine #TherapeuticTarget #AutoimmuneDiseases #MedicalInnovation Link to the article>> https://lnkd.in/dq4wG3-3

New study - in a study led by Boston University, we found that circulating levels of cells which repair blood vessels were associated with Alzheimer's disease risk, with higher number of these regenerative cells associated with lower risk. This association persisted even when correcting for age, biological sex, and APOE4 status (one of largest genetic risk factors for AD). This has implications for promoting vascular health in those at risk of AD- and we know from other studies that diet and exercise significantly alter your circulating regenerative cells- so possibly a mechanism by which physical activity may reduce AD risk https://lnkd.in/eXP-gxXz

Microglia's role in Alzheimer's disease (AD) varies between sexes, particularly concerning female predominance in AD prevalence, symptoms, and pathology. Scientists analyzed cellular metabolism and immune responses in AD patients from ROSMAP cohort and CERAD scores. The study revealed sex-specific differences in metabolites, immune and metabolic genes, as well as pathways linked to AD progression. Furthermore, in AD females, they found increased levels of glycerophosphorylcholine and N-acetylglutamate, inflammatory metabolites connected to IL-17 signaling and other immune pathways. They also observed unique microglia-specific immunometabolism endophenotypes in females, characterized by distinct lipid- and amino acid-based IL-10 and IL-17 signaling, as well as reduced excitatory neuron-microglia communication. These findings offer new insights into the molecular reasons for female dominance in AD and suggest that future studies should include ethnically diverse cohorts for validation. Visit us at https://treventis.com/ #Alzheimersdisease #microglia #female #sexspecific #immune https://lnkd.in/euqzyNRX

Why women are more susceptible to autoimmune diseases? In this article, researchers explored a connection with Xist, a molecule produced by one X chromosome in female cells, and the development of antibodies against the body's tissues. The study explored the intricate process of X-chromosome inactivation, revealing potential factors triggering autoimmune responses. This molecular approach could improve our ability to predict and screen for autoimmune disorders, offering options for early detection and personalized interventions. #HealthcareInsights

My Friday posts are always for Frankie and raising the awareness of Rett Syndrome which can often be mis diagnosed when the genetics blood tests haven't been done. Rett Syndrome is estimated to affect 1:10,000 people, and is most often seen in girls and women because the gene which causes Rett Syndrome is on the X chromosome. Girls and women have two X chromosomes whereas boys have one. The consequence of not having that ‘back up’ copy of the gene is devastating. As with most conditions there is a spectrum in terms of severity however most children and adults with Rett Syndrome are unable to speak, walk, or purposefully use their hands. Many have breathing problems, feeding tubes, seizures, anxiety, gastrointestinal, and orthopaedic issues. Research has shown that people with Rett Syndrome do not have brain damage, they know and understand – but they are locked in, trapped by a body that cannot obey signals from their brain. For more information visit Reverse Rett www.reverserett.org.uk #research #clinicalresearch #people #disability #awareness

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