Cherqui has pioneered stem cell gene therapy approaches for degenerative genetic disorders, including cystinosis. The vast majority of genetic diseases result from disruption of a single gene, yet their consequences can be devastating and lead to premature death. Despite the severity of these conditions, therapeutic options for most rare ... Cherqui has pioneered stem cell gene therapy approaches for degenerative genetic disorders, including cystinosis. The vast majority of genetic diseases result from disruption of a single gene, yet their consequences can be devastating and lead to premature death. Despite the severity of these conditions, therapeutic options for most rare genetic diseases remain extremely limited or entirely absent. Doctors have long debated how to balance the need for safety in gene therapy trials with the urgency of developing treatments for children with incurable, often worsening conditions. Our responsibility is not to eliminate all risk, which is impossible, but to ensure that risks are scientifically justified, carefully monitored, and proportionate to the severity and urgency of the disease. For children facing otherwise incurable and rapidly progressive disorders, both excessive risk and excessive delay can have profound consequences. A pediatric clinician specializing in medical genetics at Mount Sinai. She is also an assistant professor of pediatrics as well as genetics and genomic sciences. Gene therapy has made remarkable strides in improving the prognosis for children with rare diseases that, until recently, had few or no effective treatment options. These diseases are individually rare, so there’s not much commercial incentive to develop treatments for them, and gene therapy is often the only option. Sometimes it’s the only thing that lets a child survive to adulthood. Gene therapy delivers a healthy copy of the gene into cells so they can make the missing protein themselves.

A recent study highlights the dual positivity for antiglomerular basement membrane antibody and proteinase-3-antineutrophil cytoplasmic antibody in patients with rapidly progressive glomerulonephritis. This discovery may enhance understanding and treatment approaches for this severe kidney condition.