Joined April 2022
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World Down Syndrome Day is a global healthcare event observed every year on the 21st of March to raise awareness about the disease and voice in support of friends and family of the person affected by Down Syndrome.
#WorldDownSyndromeDay #Health #ChildHealth #pediatrics #research
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Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. It does not include a difference of one or more complete sets of chromosomes.
#Aneuploidy #genetics #heredity
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A pioneering gene editing drug shows promise in treating genetic blindness by precisely targeting and correcting disease-causing mutations. Unlike traditional therapies, this breakthrough offers a potential one-time cure for the root cause of vision loss.
#GeneEditing #Vision
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Advancing the Future of Medicine by Getting Back to its Genetic Roots. In the quest for medical advancement, returning to the genetic roots is paramount. Genomics, personalized medicine, and gene therapies offer transformative potential.
#Genomics #PrecisionMedicine #GeneTherapy
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May is recognized as Huntington's Disease Awareness Month, a time to increase awareness about Huntington's disease (HD), a progressive neurodegenerative condition that affects muscle coordination, cognitive functions, and behavior.
#HuntingtonsDisease #HDawareness #hereditary
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Arthritis Awareness Month is observed in May to raise awareness about arthritis and related conditions. Arthritis encompasses a range of disorders that cause inflammation, pain, and stiffness in the joints.
#ArthritisAwareness #ArthritisAwarenessMonth #Arthritis #ArthritisSupport
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In clinical genetics, Genetically Modified Organisms (GMOs) refer to organisms whose genetic material has been artificially altered. These modifications are typically employed for research or therapeutic purposes.
#ClinicalGenetics #GeneticResearch #GeneTherapy #DiseaseModeling
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Exciting news!
Expanding the editorial board for the Journal of Clinical Genetics and Heredity.
Support and directions from experts are crucial to achieve the journal’s objective.
Submit an updated CV at Clinicalgenetics@journalmapsci.org
#Genetics #research #editorialboard
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Autism Awareness Month is observed annually in April. It aims to raise awareness about autism spectrum disorder (ASD), promote acceptance and understanding, and support individuals with autism.
#AutismAwareness #AutismAcceptance #LightItUpBlue #DifferentNotLes #Neurodiversity
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Genetic variability profoundly impacts drug response, influencing treatment efficacy and safety. It alter drug target structures, affecting receptor and enzyme function, which in turn, modifies drug efficacy.
#Pharmacogenomics #PersonalizedMedicine #Genetic #Drugmetabolism
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Genetics may influence the body's response to low oxygen: Researchers uncovered a fundamental mechanism that controls the body's response to limited oxygen and regulates blood vessel disease of the lung.
Visit us: lnkd.in/dhyieEcT
#Hypoxia #Epigenetics #Pharmacology
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Multi-ancestry genome-wide association study of cannabis use disorder yields insight into disease biology and public health implications.
A genetically informed causal relationship analysis indicated a possible effect of genetic liability for CanUD on lung cancer risk
#Cannabis
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Researchers have discovered that zebrafish development, detailing the gene expression programs that are activated within nearly every cell type during the first five days of development, a period in which embryos mature from a single cell into distinct cell types.
#Newdiscoveries
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A Pediatric Case of Spinal Intradural Epidermoid Cyst which is a Rare Encounter. The case of a spinal intradural epidermoid cyst in a pediatric patient highlights the diagnostic intricacies and therapeutic considerations associated with this rare pathology.
#PediatricCase
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Researchers made a significant advance in understanding Alzheimer’s disease (AD) by pinpointing how specific brain cells contribute to different stages of the disease. This study, leveraging autopsy and neuroimaging data across various stages of AD
#alzheimers #autopsy #research
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Microbiome sequencing is a scientific technique that involves the analysis of genetic material (DNA or RNA) derived from the microorganisms inhabiting a particular environment or host.
#MicrobiomeSequencing #MicrobialEcology #Genomics #ScientificResearch
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The sea nomads, also known as the Bajau people, have attracted scientific interest, particularly in the field of genetics, due to the unique adaptations to life at sea.
#SeaNomads #MaritimeCulture #CulturalDiversity #SustainableLiving #Genetics
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Metagenomics is a field of genomics that involves the study of genetic material collected directly from environmental samples. This approach allows researchers to understand the genetic diversity, structure, and function of microbial ecosystems .
#Metagenomics #MicrobialEcology
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Gene drives is a specific technique in genetic engineering that enables a particular gene to be passed down to a high percentage of offspring in sexually reproducing species, potentially spreading through an entire population over time.
#GeneDrives #GeneticEngineering #CRISPR
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