Spinal Muscular Atrophy: From Genes to Therapies
Understanding a Rare Neuromuscular Disease Spinal muscular atrophy (SMA) is a genetic disorder that causes muscle weakness and atrophy. It is characterized by the progressive loss of motor neurons, which are the nerve cells that control muscle movement. These neurons control voluntary muscle movements, including those involved in walking, swallowing, and breathing. Without sufficient SMN […]
Rare Chromosome Disorder Awareness Day
Shining a Light on the Unseen Rare Chromosomal Disorder Awareness Day brings to light the special difficulties that people with rare chromosomal and gene disorders and their families encounter every year. More than just a date on the calendar, this day represents a movement for inclusiveness, empathy, visibility, and scientific advancement. Individually, chromosomal abnormalities are […]
Rare diseases are not Rare!!!
When the baby is born, the first thing people say is he/she has a close resemblance to father or mother. Rare Genetic Disease: The RARE genetic disease comprises approximately 7,000 different diseases affecting more than 300 million people worldwide. In the world, every minute, ten children are born with rare genetic diseases. Why does this […]