At the ACMG Annual Clinical Genetics Meeting in Phoenix, AZ, O’Rouke et al presented data showing eteplirsen to slow the progression of pulmonary dysfunction in 12 boys who have been on the drug for 4 years (216 weeks).
Recent studies examining the benefits of newborn screening for Pompe disease have dramatically changed our perceptions of this rare disease
The most common symptoms in the referral letter for applying were often vague complaints: pain, fatigue, headache, and difficulty thinking/focusing or memory problems.
The FDA is lifting their clinical hold on Seattle Genetics' AML trials.
If you can’t beat ‘em, buy ‘em.....Vertex will pay Concert $160 million in cash for all worldwide development and commercialization rights to CTP-656.
Many people believe that because Gaucher disease is more common in Ashkenazi Jewish heritages, they are unlikely to have the disease if they aren't from Jewish decent. Lauren Edwards, a Gaucher patient who is not of Jewish decent describes how Gaucher patients are all around the world and consist of a variety of different heritages.
Morgan Simmons, a graduate student at Emory University and intern at ThinkGenetics talks about some of the data being collected at ThinkGenetic to improve our understanding of the patients' experiences with various genetic conditions.
Today, the company announced their pivotal cystic fibrosis trial with ataluran failed to meet its primary endpoint.
At WORLDSymposium, we talked with Elizabeth Smith of Emory University about her poster presentation involving 3 women suspected of having Fabry disease who underwent further genetic testing to confirm or deny the diagnosis.
SB-913 is a type of gene therapy that uses Sangamo's zinc finger nuclease (ZFN) genome editing technology to provide stable, continuous production of iduronate 2-sulfatase for the lifetime of the patient.