#GeneticDisorder

Dr Priya Sammani ( MBBS ,DFM )drpriya@me.dm
2025-08-17
Dr Priya Sammani ( MBBS ,DFM )drpriya@me.dm
2025-08-11

Imagine this: you're going about your day, maybe playing with your kids or just reaching for something on a high shelf, and you notice it. #calciumdeposits #geneticdisorder #HFTC #hyperphosphatemicfamilialtumoralcalcinosis #jointlumps #phosphatemetabolism #TumoralCalcinosis

priya.health/tumoral-calcinosi

Dr Priya Sammani ( MBBS ,DFM )drpriya@me.dm
2025-08-11

It’s a strange thing, isn't it? You might notice your child's tonsils look a bit… off. Maybe an unusual yellowish-orange color. #ABCA1gene #apolipoproteinA1 #atherosclerosis #geneticdisorder #HDLcholesterol #LDLcholesterol #Tangierdisease

priya.health/tangier-disease/

Dr Priya Sammani ( MBBS ,DFM )drpriya@me.dm
2025-07-19

I often see worry etched on a parent's face when their little one isn't quite themselves. #anemia #BetaThalassemia #bloodtransfusion #geneticdisorder #HBBgene #hemoglobin #ironchelation

priya.health/beta-thalassemia/

Dr Priya Sammani ( MBBS ,DFM )drpriya@me.dm
2025-07-12

I remember a young couple, let's call them Sarah and Tom, sitting in my office, their faces etched with worry. Their beautiful baby boy, just a few months old, wasn't gaining weight. #bonemarrowfunction #geneticdisorder #neutropenia #pancreaticinsufficiency #pediatricillness #SDS #ShwachmanDiamondsyndrome

priya.health/shwachman-diamond

Dr Priya Sammani ( MBBS ,DFM )drpriya@me.dm
2025-07-12

I remember a young couple, their faces a canvas of worry and that fierce, protective love only new parents truly know. Their little one, just a few weeks old, wasn't quite thriving. #AlagilleSyndrome #Bileducts #cholestasis #geneticdisorder #heartdefects #JAG1gene #liverdamage

priya.health/alagille-syndrome

Dr Priya Sammani ( MBBS ,DFM )drpriya@me.dm
2025-07-12

I remember a young couple, Sarah and Tom, sitting in my office, their faces etched with worry. Their little one, just past his first birthday, wasn't hitting milestones like other toddlers. #Cockaynesyndrome #developmentaldelays #ERCC6gene #ERCC8gene #geneticdisorder #lightsensitivity #prematureaging

priya.health/cockayne-syndrome

2025-06-14

🩸 थॅलसेमिया – एक गंभीर पण उपचारयोग्य रक्तविकार!
हे आनुवंशिक विकारामुळे होणारे रक्तातील हेमोग्लोबिनचे दोष रुग्णाच्या संपूर्ण आयुष्यावर परिणाम करतात.
लक्षणे, निदान, उपचार आणि प्रतिबंधात्मक उपाय जाणून घ्या आजच!

🏥 वेळेवर निदान आणि योग्य उपचार हेच जीवन वाचवण्याचे मुख्य साधन आहे.

MrMed : Online Pharmacymrmedonlinepharmacy
2024-08-22

When to See a Doctor for Wilson's Disease Symptoms
Learn when to seek medical attention for Wilson's disease symptoms, a genetic disorder that causes copper buildup in the body. Early diagnosis and treatment are crucial for preventing serious complications.
shorturl.at/PhJGI

2024-05-09

Understanding Thalassemia: Causes, Symptoms, and Treatment

, , , , , Introduction Thalassemia is a group of inherited blood disorders that affect the body’s ability to produce hemoglobin, a protein found…. Medical Microbiology & Recombinant DNA Technology (RDT) Labs | Read More -

micrordt.wordpress.com/2024/05

2024-05-08

Sickle Cell Anemia: Understanding the Genetic Battle Within

, , , , , , Introduction Sickle Cell Anemia is a complex and often misunderstood genetic disorder that affects millions of people worldwide. It is…. Medical Microbiology & Recombinant DNA Technology (RDT) Labs | Read More -

micrordt.wordpress.com/2024/05

2024-05-08

Understanding Haemophilia: Symptoms, Causes, and Treatment

, , , , , , , Introduction Haemophilia is a rare, inherited bleeding disorder that affects a person’s ability to form blood clots properly. This condition,…. Medical Microbiology & Recombinant DNA Technology (RDT) Labs | Read More -

micrordt.wordpress.com/2024/05

2024-05-08

Unraveling the Complexity of Genetic Disorders in Humans

, , , , , Introduction Genetic disorders have intrigued and challenged scientists and healthcare professionals for centuries. These conditions, rooted in the intricate blueprint…. Medical Microbiology & Recombinant DNA Technology (RDT) Labs | Read More -

micrordt.wordpress.com/2024/05

2024-04-29

Understanding Sickle Cell Anemia: Unraveling the Mysteries of a Genetic Disorder

, , , , Sickle cell anemia stands as a testament to the intricate relationship between genetics, biology, and health. This hereditary disorder, predominantly affecting individuals of African descent, has long fascinated and challenged scientists…. Medical Microbiology & Recombinant DNA Technology…

micrordt.wordpress.com/2024/04

2024-04-29

Understanding Down Syndrome: A Genetic Perspective

, , , , , , Down syndrome, also known as trisomy 21, is a genetic condition that affects approximately 1 in every 700 births worldwide. Named after John Langdon Down, the physician who first described it in 1866.…. Medical Microbiology & Recombinant DNA Technology (RDT) Labs | Read More -

micrordt.wordpress.com/2024/04

Technische Universität Münchentu_muenchen@wisskomm.social
2024-02-29

Read the interview with Karima Djabali about the underlying biological mechanisms of the rare #geneticdisorder Hutchinson-Gilford #Progeria Syndrome that leads to severe, premature aging symptoms in children: go.tum.de/974020

#RareDiseaseDay

📷K. Djabali/Munich Institute of Biomedical Engineering

2023-11-09

Has anyone with #PKU heard of Kevin Alexander's podcast "Never Give Up: A Rare Disease Podcast"?

I briefly met him at the ESPKU, and he was absolutely lovely, just making my way through his podcast now!

open.spotify.com/show/5jW0TZlM

#pku #phenylketonuria #geneticdisorder #Podcast #RareDisease #RareConditions

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