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Even in modern times, researchers continue to find new ways to help people live longer, healthier lives. Unfortunately, medical science also continues to unearth new diseases and medical conditions. Listed below are some genetic disorders that have only been identified in recent years.
NGLY1 deficiency ‒ Imagine being completely unable to produce tears. As incredible as that might sound, children with NGLY1 deficiency are often afflicted with this very problem. An inability to cry is far from the only symptom of this disease; children lacking the NGLY1 enzyme are also susceptible to developmental delays and liver damage.
Activated PI3K- δ Syndrome (APDS) ‒ APDS afflicts the respiratory system, leading to recurring infections in this crucial part of the body. Those with APDS also suffer from lung damage, which occurs at a rapid pace. The genetic mutation responsible for this disease cause PI3Kδ enzymes to be abnormally active (the “δ” is the symbol for the Greek letter delta). Consequently, the body’s immune cells cannot effectively shield the lungs from infection.
CLP1 Gene Mutation ‒ In April 2014, two independent research teams identified a genetic disorder possibly responsible for nervous system degeneration. Upon studying over 4,000 families, the researchers found that abnormalities in the CLP1 gene lead to serious and chronic health issues, such as reduced brain size, motor/sensory defects and seizures.
