Personally, I find it a new day in the annals of medicine.
Baby KJ Muldoon (born in summers of 2024) recently got a permanent solution for an inborn error of metabolism for which there was no known cure.
Doctors at CHOP fixed the defective gene of baby KJ via CRISPR gene therapy. That is the miracle case of CRISPR personalized treatment. The baby was diagnosed with CPS1 (Carbamoyl Phosphate Synthetase 1 ) deficiency. Doctors gave him 3 injections of the gene therapy and it seems his gene was edited and problem fixed. Doctors are still monitoring him and his serum ammonia levels are stable. CPS1 as we know is an urea cycle disorder -a fascinating topic for me personally.
Just a pinch of genetics: Most of the metabolic disorders are inherited as autosomal recessive (AR) disorders.
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The metabolic condition, called carbamoyl-phosphate synthetase 1 deficiency, affects the urea cycle and can cause deadly levels of ammonia to build up in the blood, leading to severe and permanent brain damage. It affects about 1 in 1.3 million people. Among babies diagnosed with it, the disease kills 50% of them by early infancy.
CRISPR has always been a promising candidate for curing rare diseases. It’s fascinating that this dream has become a reality.
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Absolutely mind-blowing indeed !
This advanced treatment used a refined CRISPR technique known as base editing, allowing correction of the faulty gene without cutting the DNA. Delivered directly to KJ’s liver cells through lipid nanoparticles, the therapy was administered in three injections. Suprisingly , within weeks, the baby began to show significant improvements in terms of protein intake tolerance and lesser medications .
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This is absolutely revolutionary. From Genetic Disorders to Cancer, the future seems hopeful <3
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Kudos to the team! Here’s to the beginning of breakthroughs in curing deadly genetic disorders.
Truly a landmark moment in medicine! Babe KJ’s case shows how CRISPR can offer real hope for rare, previously untreatable genetic disorders like CPS1 deficiency. Definitely a breakthrough in personalized gene therapy and metabolic medicine!
Remarkable medical breakthrough and new ray of hope to see treatment options opening up for rare genetic diseases!