LET’S UNDERSTAND THE CRUCIAL ROLE OF PRENATAL COUNSELLING AND GENE THERAPY IN COMBATING SOME RARE GENETIC DISORDERS.
From sickle disease and cystic fibrosis to haemophilia and more, there are over 6,000 rare diseases affecting 300 million people worldwide. While 72 percent of these diseases have a genetic origin, 89 percent of such cases include inherited mutations. More importantly, 70 percent of rare genetic diseases start in childhood. Although, t heir occurrence is beyond our control, there are some effective ways to prevent and treat them.
EARLY SCREENINGS, PROMPT RESPONSE:
Since most rare genetic diseases have no cure, prevention and timely intervention are paramount. “Genetic counselling and prenatal screenings are important in identifying and preventing disorders such as Down Syndrome, Fragile X Syndrome, Klinefekter syndrome, Turner syndrome, and Trisomy 18, among others. Blood tests and ultra-sound scans are effective in detecting abnormalities in early pregnancy, while some advanced tests like amniocentesis and chorionic villus sampling (CVS) help understand the foetus’s genetic health.”
Thanks to advancements in genetic science, we can now assess potential risks that my be passed on to future generations.
PREVENTION IS BETTER THAN CURE:
Early detection allows parents and health-care providers to prepare for necessary medical care, make informed decisions, or even explore treatment options such as foetal surgery in certain cases. “Newborn screening, conducted shortly afterbirth, tests for a range of genetic, metabolic, and endocrine disorders such as phenylketonuria (PKU) and sickle cell disease. Timely diagnosis through these screenings enables treatments, including dietary adjustments, medications, or other therapies, which can prevent severe complications, developmental delays, or life-threatening conditions.”
THE FUTURE OF GENETIC HEALTH:
In recent years, improvements in gene therapy have increased the chances of treatments. “New techniques are being developed by experts to significantly correct faulty genes, replace the missing ones, or stop harmful mutations from causing severe diseases. One of the most promising gene-editing technologies is CRISPR-Cas9. With this tool, doctors can precisely target and modify problematic genes. Many such emerging therapies are currently in clinical trials for conditions like sickle cell disease, muscular dystrophy, and metabolic disorders.”
Another major breakthrough is viral vector technology. “This is used to deliver healthy genes to the impacted cells, helping them function properly again. It also works well for spinal muscular atrophy in children. Besides, many experts recommend emerging RNA-based therapies to modify gene expression without permanent DNA changes in children.”
Gene therapy has the potential to provide long-term cures for many conditions. Therefore, raising awareness and educating oneself are crucial, as timely screenings and medical care can help navigate this complex health landscape.
