Cleveland Clinic Otolaryngology - Head & Neck Surgery’s Post

July is National Hemochromatosis Screening & Awareness Month! Hereditary (or inherited) hemochromatosis is one of the most common genetic conditions in the U.S., and can be passed down in a family through different inheritance patterns. 👩⚕️ Hemochromatosis leads to high iron levels in the body that can cause organ and tissue damage. Early detection is important to ensure treatment is started in time to prevent such damage. 🧬 If you have a family history of hemochromatosis, you and your family members have a higher chance of having this condition and are recommended to talk with your providers about hemochromatosis screening. You may also benefit from talking with a genetic counselor to discuss hereditary forms of this condition by visiting https://lnkd.in/gPY5uT3! #HemochromatosisAwareness #HereditaryHemochromatosis

How is Congenital Myastenic Syndrome (CMS) Different from Myasthenia Gravis (MG)? 💭    🔗 Get the basics about CMS, a rare genetic condition: https://lnkd.in/grFN-58i      -    #CongenitalMyasthenicSyndrome #CMS #MyastheniaGravis #MG #raredisease #rarediseases #rarediseaseawareness #KnowRare

TAZ And YAP Proteins Control The Growth Of Bones In The Womb Two proteins, YAP and TAZ, have been found to be regulators of the formation of bone in the womb. Understanding these proteins may help treat genetic disorders such osteogenesis imperfecta, also referred to as "brittle bone disease." Know More: https://lnkd.in/dvJpzCpi #boneformation #lifesciencesdiscovery #yapandtaz #geneticdisorders #osteogenesisimperfecta #proteinregulation #wombdevelopment #medicalresearch

World Retinitis Pigmentosa Day raises awareness about a group of genetic disorders that cause retinal degeneration and vision loss. This day promotes education, support, and research to improve the lives of those affected by this condition, aiming for early diagnosis and potential treatments. #WorldRPDay, #RetinitisPigmentosa, #VisionLoss, #RPawareness, #SupportRP, #GeneticDisorders, #EyeHealth, #RPResearch, #BlindnessAwareness

CRISPR is the saviour and current tool for most genetic disorders.

10th May is Klinefelter's Syndrome Awareness Day. Living with XXY is changing the way the world views Klinefelter syndrome, 47 ,XXY. Most cases of Klinefelter’s syndrome remain undiagnosed and untreated. The key clinical feature of the condition is reduced testicular volume. Genetic testing can help in diagnosis of the chromosomal changes that can cause the disorder. #klinefeltersyndromeawareness #chromosomalabnormalities #genetictesting #geneticcounseling

#PolycysticKidneyDisease (PKD) is a genetic condition causing fluid-filled cysts in kidneys. Early detection is key! Consult our kidney specialists: www.kailashhealthcare.com #baatsehatki #kidneydisease #PKD #Cystickidneydisease

It's online! In this original comprehensive review we discuss the landscape of Rare genetic diseases and the multitude of ways CRISPR maybe harnessed for the correction & therapy of such debilitating disorders. Plz read & share! https://lnkd.in/d7p4fx6d

Understanding Down Syndrome in Pakistan: A Global and Local Perspective Did you know that, according to the National Down Syndrome Society, 1 in every 700 babies born globally has Down syndrome? This genetic condition affects people of all races, religions, and economic backgrounds, and it can happen to anyone. 1️⃣ Trisomy 21 (95% of cases) Every cell in the body has three copies of chromosome 21 Not inherited Recurrence Risk: 1%. Key Fact: Trisomy 21 is the most common form, making up the majority of Down syndrome cases worldwide and in Pakistan. 2️⃣ Translocation Down Syndrome (3-4% of cases) Part of chromosome 21 breaks off and attaches to another chromosome, usually chromosome 14. Can be inherited Parents may carry a balanced translocation, which has no symptoms but increases the chance of Down syndrome in their offspring. Recurrence Risk: 2.5% to 10%, depending on whether the mother or father is the carrier. Key Fact: In Pakistan, the prevalence of Translocation Down syndrome may be slightly higher due to consanguineous marriages. 3️⃣ Mosaic Down Syndrome (1-2% of cases) Only some cells have the extra copy of chromosome 21, while others have the usual two. This results in a mixture or "mosaic" of normal and abnormal cells. Rarely inherited—this is typically a random event during early development. Recurrence Risk: 1%. Key Fact: Mosaic Down syndrome tends to result in milder symptoms due to the presence of some typical cells. Diagnosing Down Syndrome 🧬 During Pregnancy (Prenatally): Screening Tests: Blood tests and ultrasounds can estimate the chance of Down syndrome by detecting protein and hormone levels or structural changes. Diagnostic Tests: More definitive tests, like Chorionic Villus Sampling (CVS) and Amniocentesis, can confirm the diagnosis with nearly 100% accuracy but carry a small risk. 🧬 At Birth: A doctor can suspect Down syndrome based on physical features and confirm the diagnosis with a karyotype (chromosomal analysis). This also helps determine future recurrence risks. Societal Impact and Inclusion People with Down syndrome are increasingly becoming part of mainstream society globally, including in Pakistan. Advances in medical technology, particularly heart surgeries, have greatly improved life expectancy—from age 9 in the early 1900s to over 60 today. However, Pakistan still faces challenges due to the cultural stigma around disabilities. Public education and awareness are crucial to ensuring acceptance and inclusion for people with Down syndrome. Early intervention services, such as physical, speech, and developmental therapies, can significantly improve quality of life for children born with Down syndrome. Together, let’s promote understanding, acceptance, and the celebration of talents in individuals with Down syndrome. #DownSyndrome #Genetics #Pakistan #PrenatalTesting #GeneticCounseling #EarlyIntervention

Marfan Syndrome Awareness Month Marfan syndrome is a genetic condition that affects the body’s connective tissue which holds all the body’s cells, organs and tissue together. #marfansyndromeawarenessmonth #PrismMarketView #PrismMediaWire #PrismDigitalMedia