Understanding Birth Defects: Why Awareness Matters
A birth defect, also called a congenital anomaly, is a condition that develops while a baby is growing in the womb. It may affect the structure or function of different parts of the body such as the heart, brain, limbs, or metabolism. Some birth defects are visible at birth, while others may become apparent later in […]
Medical genetics: Understanding the blueprint of life and health
Have you ever wondered why some diseases run in families? Or why do two people with the same illness respond differently to the same treatment? The answer often lies in our genes. What are genes? Genes are like tiny instruction manuals inside our bodies. Back bone of genes is deoxyribonucleic acid (DNA). They are passed […]
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 […]
Commemorate World Fragile X Day July 22nd
Together for Awareness, Together for Hope What is Fragile X syndrome? A genetic disorder caused by a mutation in the FMR1 gene. Located on the X chromosome. Required for normal cognitive development and synaptic function in the brain. In individuals with FXS, there is an abnormal expansion of the CGG triplet repeat in the FMR1 […]
World Sickle Cell Day 2025: Shaping a Healthier Future Through Awareness and Care
“Breaking the Cycle: Advancing Equity in Sickle Cell Disease Care” Introduction World Sickle Cell Day is celebrated on June 19 each year. This day brings people from around the globe together. It raises awareness of sickle cell disease (SCD), a serious inherited blood condition that affects millions of people. It’s a time to support important […]
World Thalassemia Day 2025: Empowering Lives Through Knowledge and Care
“Empowering Lives, Embracing Progress: Equal Access to Quality Thalassemia Care for All” Every year on May 8, the world comes together to observe World Thalassemia Day, a day dedicated to raising awareness about thalassemia, a group of inherited blood disorders that affect millions globally. This day serves not only as a tribute to those who […]