Discover Sanfilippo Syndrome a rare genetic disorder affecting childrens development Learn about its symptoms treatment ...
Why me and not you?’ my twin sister,  Amanda,  asked me.  It was a mild, sunny day in April 2022 and we were at my mum’s ...
A wave of support has emerged online for a Thai child diagnosed with Aromatic L-amino acid decarboxylase deficiency ( AADC Deficiency), a rare genetic disorder affecting only about 130 people ...
An editor in his early 40s thought the tiny numb spot on his nose was innocuous. A year and six doctors later, he learned it ...
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing.
Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the ...
The gene mutation was isolated in a family in northern Italy where under half of the relations developed the disease. View on ...
Surfactant B deficiency causes abnormalities in the lining of the lung tissues, making breathing difficult. The life expectancy without a lung transplant is about three to five months. In Kylie’s case ...
The Phase Ib trial is set to test a gene therapy designed to target a rare disorder that causes muscle and respiratory failure.
Penn Medicine is one of the first institutions to develop FDA-approved CAR T-cell therapies. This therapy is currently ...
Haliza Md Kasim’s eyes widened. Despite having gone through this before with her first son, Yusof, and despite the doctors ...
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