Q&A With Dr. Cláudia Carvalho: Solving the Unsolved Cases of Rare Diseases
Cracking the code of rare genetic diseases takes more than just science—it takes passion, collaboration, and a deep commitment to discovery. This is the work of Dr. Cláudia Carvalho and her team at PNRI.
With a focus on genetic structural variants that often go unnoticed in standard genetic tests, Dr. Carvalho’s lab is making strides in diagnosing rare diseases that have long baffled the medical community. From tackling complex neurodevelopmental or bone malformation conditions like MECP2 duplication syndrome and Robinow Syndrome to collaborating with international research teams, her work is pushing the boundaries of what’s possible in genetics.
