Mumbai scientists find genes linked to serious birth defects
Scientists in Mumbai have identified six genes tied to serious birth defects like brain and heart problems.
Their research, carried out between 2021 and 2024, could lead to earlier diagnosis and better support for parents facing tough decisions.
Genes tied to conditions like spinal cord issues
The team studied 44 fetuses with abnormalities found on ultrasound.
While standard tests explained a few cases, most remained unsolved until whole-exome sequencing and advanced analysis identified six candidate genes—RUNX2, PALLD, KMT2D, FBN2, CPLANE1, and KDM1A—linked to conditions like spinal cord issues and Dandy-Walker malformation.
PALLD gene linked to neural tube defects for 1st time
For the first time in humans, the PALLD gene was connected to neural tube defects—a big step forward since animal studies had hinted at its role before.
This discovery could make it easier for doctors to spot certain birth defects early and guide families through next steps.
Advanced genetic tools in public hospitals can help families
About 5% of pregnancies are affected by fetal malformations that often slip past regular tests.
Using advanced genetic tools in public hospitals can help more families get answers sooner—and may open up better prenatal care options across India.