A Rare Genetic Condition and a Promising Treatment Breakthrough

Alström syndrome (AS) is a rare genetic condition. It affects about 1 in 10, 000 to 1 in 1, 000, 000 live births. It is caused by changes in the ALMS1 gene. A young girl was diagnosed with AS at age 5. She had a unique change in her ALMS1 gene. This change had not been seen before. It was a homozygo