A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an ...
Ultra-rare disorders are those affecting fewer than one person in 50,000. Sometimes, indeed, they are unique. And unique ...
When two defective gene variants combine, normal protein function can sometimes be restored.
Pam Kowalcyzk and her daughter have PKU, a rare disorder that prevents the body from processing protein ...
Scientists from UC Davis Center for Surgical Bioengineering, the MIND Institute and UC Berkeley’s Murthy Lab are developing ...
Researchers at UCL and Great Ormond Street Hospital (GOSH) have developed the first-ever lab-grown mini-stomach that contains ...
The number of cases in Malaysia is very small. However, the risk still exists, particularly for parents with a family history ...
UCL scientists have grown mini-stomachs in the lab that closely mimic human organs, providing a powerful new way to ...
When her newborn was diagnosed with Phenylketonuria (PKU), Jewelia Belcher tells PEOPLE it felt like her “world was crashing ...
A couple with deep ties to the Chicago area is donating $11 million to Lurie Children’s Hospital in hopes of speeding research, treatment and diagnosis for children with rare and genetic disorders.
Bedford, a 2-year-old with Schwartz-Jampel syndrome, went viral after his parents posted an inspirational TikTok video. There are only an estimated 150 reported cases of Schwartz-Jampel syndrome ...
Some 200 rare disease therapies are at risk of losing eligibility for a pediatric priority review voucher, a recent analysis ...