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Understanding Guillain‐Barré Syndrome
Guillain-Barré Syndrome (GBS) is a neurological condition where the body’s immune system mistakenly targets its own peripheral nerves,...
Jan 285 min read

The Long Journey to Diagnosing Rare Diseases: A Closer Look at Diagnostic Delays
Living with a rare disease (RD) often involves navigating a complex and lengthy healthcare process, especially when it comes to receiving...
Oct 25, 20245 min read


Understanding Microtia
Microtia, a congenital condition characterized by an underdeveloped external ear (pinna), often presents significant challenges,...
Aug 8, 20243 min read


Understanding Retinitis Pigmentosa
Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive vision loss. Affecting approximately 1...
Jul 5, 20244 min read


Understanding Kleefstra Syndrome
Kleefstra syndrome is a rare genetic disorder estimated to affect 1:25,000 to 1:35,000 individuals, although the number may be higher as...
Jul 1, 20243 min read

Understanding Prader-Willi Syndrome
Prader-Willi Syndrome (PWS) is a complex genetic disorder that affects multiple systems within the body, leading to a range of physical,...
Jun 21, 20243 min read

Understanding Angelman Syndrome
Angelman Syndrome (AS) is a rare neurogenetic disorder that significantly impacts the nervous system, resulting in severe developmental...
Jun 21, 20244 min read

Patau Syndrome (Trisomy 13)
First described by Klaus Patau in 1960, Patau syndrome, also known as Trisomy 13, is a rare and severe chromosomal disorder caused by the...
Jun 7, 20242 min read

Understanding Friedreich Ataxia
Friedreich Ataxia (FA) is a rare, inherited neurodegenerative disorder that primarily affects the nervous system and the heart. Named...
May 27, 20243 min read

Understanding Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and reproductive systems, characterized by the...
May 23, 20243 min read

Understanding Neurofibromatosis
Neurofibromatosis (NF) is a genetic disorder that affects the nervous system, causing tumors to form on nerve tissue. These tumors can...
May 21, 20243 min read
Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)
Muscular dystrophies are a group of genetic disorders characterized by progressive muscle weakness and degeneration. Duchenne muscular...
Apr 26, 20243 min read


Understanding Autism Spectrum Disorder (ASD)
April 2nd marks Autism Awareness Day, a significant occasion for raising awareness and understanding about Autism Spectrum Disorder...
Apr 16, 20243 min read


Shedding Light on World Rare Disease Day: Understanding the Unseen Battles
World Rare Disease Day is observed every February 29th (or 28th February in non-leap years). It serves as a poignant reminder of the...
Apr 12, 20242 min read
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