Genetic testing can improve care for people with #neuromuscular diseases. Learn more: https://invit.ae/4eVGFe3
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In the realm of genetic disorders, Smith-Lemli-Opitz syndrome (SLOS) stands as a challenging puzzle for medical professionals. Ellen Roy Elias, MD, one of the geneticists who helped discover the cause of SLOS, spoke with Rare Disease 360 to shed light on the intricacies of SLOS, its diagnostic journey, treatment options, and the pivotal role of genetic counseling. View the complete article below ⤵️ #SmithLemliOpitzSyndrome #SmithLemliOpitz #GeneticTesting
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You might be finding difficult to understand this lengthy name condition called “Chanarin- Dorfman Syndrome (CDS)” Scroll my article and get thorough grasp of this rare genetic disease. #medicalwriting #healthcare #scientificwriting #writing #medicalcontent #medicalcommunications #raredisease #healthawareness #genetic #prevention #syndrome #counselling #supportgroups #medicalcare #followup #heathcareteam
What Is Chanarin-Dorfman Syndrome?
https://my.klarity.health
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Cord blood is the blood from the baby that is left in the umbilical cord and placenta after birth. It contains special cells called hematopoietic stem cells that can be used to treat some types of diseases. Cord blood is rich in stem cells, which can be used to treat many different cancers, immune deficiencies and genetic disorders. #cordbloodawarenessmonth #health #awarenessmonth #CRC #citilabandresearchcentre #BestLabInPakistan #homesamplecollection #homesamplevisits #homesamplecollectionfacility #bestlabnearme #CRC
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Gene editing therapy has just been approved for sickle cell disease (SCD) and beta-thalassemia. To understand the potential impact this has, it may be useful to remember how SCD can significantly affect patients' lives, namely children. Though especially focused on the role of oxidative stress on the disease, particularly on vascular brain disease in children, it is a comprehensive review on SCD. It also addresses genetic modulation (variants other than the causal genetic change) as an underlying factor influencing the significant clinical variation between patients. https://lnkd.in/dg9agGEa #SickleCellDisease #SCDreview #OxidativeStress #PediatricStroke #GeneticModulation P.S. #SciRiddles returns tomorrow
From Stress to Sick(le) and Back Again–Oxidative/Antioxidant Mechanisms, Genetic Modulation, and Cerebrovascular Disease in Children with Sickle Cell Anemia
mdpi.com
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✨DIAGNOSING AND MANAGING GENETIC DISORDERS✨ Up to 10% of people have a genetic disorder, but very few adults have ever received clinical genetic evaluation. Many adults currently live with undiagnosed genetic diseases and unexplained symptoms. Others have no symptoms now but are at risk for future onset. By sending patients to a geneticist for clinical testing and analysis, primary care providers can acquire vital information for diagnosing and managing genetic conditions. Many individuals with uncommon, complex, or unexplained symptoms can benefit from genetic testing and screening, which can provide answers about their health and a clearer path forward. 👉Some frequent red flags for hereditary illnesses are: ➡️A disease occurring (or progressing) earlier than usual ➡️A condition developing without the standard risk factors ➡️The same medical issue appearing in multiple locations ➡️The presence of unrelated primary diseases ➡️An intellectual or developmental disability 👉Primary care providers should also consider genetic testing and evaluation for anyone with a family history of: ➡️Cancer ➡️Cardiovascular disease ➡️Neurological conditions ➡️Congenital malformations ➡️A known or suspected genetic disorder A genetic diagnosis can provide all of the clinicians involved with the tools they need to enhance health outcomes and commence preventive measures. Undiagnosed individuals are prone to repeated and costly diagnostic work-ups, ineffective medicines and concomitant issues in the absence of a genetic examination and diagnosis. 🌟Read about the other ways genetics matters when it comes to primary care https://lnkd.in/giuRarvY #genetictesting #genetics #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #chromosome15 #geneticdisorders #AngelmanSyndrome #Duplication1 #PraderWillisyndrome #primarycare #medicationsideeffects #DNA #reproductive
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Identifying genes and variants associated with various eye diseases can aid in clinical treatment, as well as in selecting target therapies to reduce the risk of disease reoccurrence in families. Our panels for inherited diseases cover both syndromic and non-syndromic diseases by analyzing a combined 81 different genes. Learn more about our Eye Disorder NGS Panel: https://bit.ly/4cOZChr #retinaldisease #eyedisorder #genetics
Eye Disorder Panel
genviewdx.com
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CBO @3billionㅣPh.D l Business Strategist ㅣRare DiseasesㅣGenetic Diagnosis l Genomics l Connects technology to the marketㅣ기술을 시장과 연결하는 사람
Is WGS more cost-effective than WES for children with suspected genetic disorders? According to the findings from an economic evaluation involving 870 pediatric patients, it appears that utilizing WGS as a primary diagnostic approach is cost-effective within a willingness-to-pay range of US $32,625 to $54,375. #ClinicalSequencing #Pediatricdisease #WGS #WES #Geneticdiagnosis #3billion https://lnkd.in/gyzzr6DZ
Whole-Genome vs Whole-Exome Sequencing in Suspected Genetic Disorders
jamanetwork.com
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Cell-type-specific genetic risk contributes to distinct stages of AD progression
Cell-type-specific Alzheimer’s disease polygenic risk scores are associated with distinct disease processes in Alzheimer’s disease - Nature Communications
nature.com
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🫀#HeartHealth: Whether higher perceived personal control (PPC) and genetic counseling satisfaction (GCS) lead to favorable changes in health-related measures will require further investigation; however, these results provide promising early data about the potential of genetic risk disclosure to empower coronary heart disease (CHD) prevention. Disclosing CHD genetic risk alongside conventional risk was associated with higher PPC and a greater proportion of patients were ‘highly satisfied’ with genetic counseling compared with conventional risk disclosure alone. PPC and GCS scores did not differ based on genetic risk score (GRS) category or the presence or absence of family history. These findings suggest that disclosure of CHD genetic risk is appreciated by patients. Read the full research study on disclosing genetic risk for coronary heart disease here: https://lnkd.in/g2BTUu73 #research #researchimpact #researchstudy #researchpaper #translationalresearch #science #scientificresearch #genetics #dna #genes #geneticresearch #genetictesting #geneticcounseling #geneticcounselor #geneticdisorders #clinicalgenetics #clinicalresearch #clinicaltrial #socialresearch #behavioralhealth #genomics #genome #patientsatisfaction #healthyheart #translationalgenomics #preventivegenomics #genomicresearch #health #publichealth #populationhealth #cardiovascularhealth #cardiology #cardiovascular #cardiovasculardisease #cardiovascularresearch #coronaryarterydisease #primarycare #patientsafety #results #evidencebased #precisionhealth #prevention #heartmonth #preventivehealth #preventativehealth #healthforall #heartdiseaseawareness #personalizedhealth #healthcare #heartdiseaseprevention #hearthealthawareness #heart #americanheartmonth #preventivehealthcare #personalizedhealthcare #heartdisease #healthcareinnovation #medicine #precisionmedicine #genomicmedicine #preventivemedicine #preventativemedicine #personalizedmedicine #futureofmedicine #futureofhealth #futureofmedicine #evidencebasedpractice #healthoutcomes #evidencebasedmedicine #healthcommunication #researchcommunity #sciencecommunication #sciencecommunity #scicomms #genomes2people
Publication: Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction
genomes2people.org
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Latest Genetic Disorder Reference Sheet on BARD1
Genetic Disorder Reference Sheet: BARD1
voice.ons.org
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