Abdullah Ayad’s Post

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

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

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

Identification of Novel Genetic Markers for the Risk of Spinal Pathologies #spine https://bit.ly/3Is0IBH

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects. Genetic testing can help in diagnosis of the mutant variant that causes the syndrome. #turnersyndrome #geneticdisorder #genetictesting #geneticcounselling

Chromosome 15 — one of the 23 chromosomes, which includes one copy each from the maternal and paternal sides — harbors a myriad of genes involved in various functions of the body. This chromosome is unique from most of our others because some genes on Chromosome 15 are only turned on from the paternal copy and some from the maternal’s copy. When genetic abnormalities occur within this chromosome, they can lead to a group of neurodevelopmental issues collectively known as Chromosome 15 disorders. For an overview of these rare genetic disorders, including three examples that shed light on the challenges patients and their families may face, click here: https://lnkd.in/e7isc6Dr   #genetictesting #genetics #sequencemd #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #chromosome15 #geneticdisorders #AngelmanSyndrome #Duplication15q #PraderWillisyndrome

Exciting news in the medical field - the first gene-editing therapy for beta thalassemia could be a game changer! According to BBC, this groundbreaking treatment has shown promise in potentially curing this inherited blood disorder. This is a huge step forward in the fight against genetic diseases. #GeneEditing #MedicalBreakthrough Link to the article: [insert link] Let's spread the word and celebrate the progress in medical science! #HealthcareAdvances https://ift.tt/vyUi5Ch

Breaking down #PFIC: progressive familial intrahepatic cholestasis (PFIC) is a rare genetic disorder caused by defects in genes that proteins need to form bile and transport it out of the liver. This rare disorder affects 1 in every 50,000 to 100,000 births in the US and Europe. To learn more, visit https://bit.ly/40F5cNq

The NCATS-funded GEMINI study shows how whole-genome sequencing can significantly affect treatment decisions for infants with suspected genetic conditions. This method proves to be more effective in pin-pointing disease-causing variants, which aids in early intervention and care. https://go.nih.gov/RRpdFaN

New research from the Genetic Disorders of #MucociliaryClearance Consortium (GDMCC): ✅ Identifying a New #Genetic Cause in Unsolved Cases of #Bronchiectasis Listen and read more: https://lnkd.in/gaQmeszi