At WORLDSymposium, Broomfield et al performed a retrospective review of all Hunter syndrome [mucopolysaccharidosis (MPS) II] patients managed at Royal Manchester Children's Hospital, Manchester, United Kingdom since the commercial introduction of Elaprase (idursulfase).
Brady Stein, MD of Northwestern University discusses the REVEAL study that showed the cardiovascular risks associated with polycythemia vera using real world data.
A recently published review article in Expert Opinion of Orphan Drugs, Drs Spinazzola and Kunkel provide an overview of the leading drugs in development for treating the secondary effects of DMD.
Among the recommendations to reduce risk of SIDS are to have the baby sleep in the parents’ bedroom and to keep soft objects away from the infant’s sleeping area. Breastfeeding is also recommended
This year's winners include: Jed William Fahey, ScD; Silvia Ortega-Gutiérrez, PhD; Roland Foisner, PhD; Juan Carlos Belmonte Izpisua, PhD
While the sickle cell trait is not rare or life-threatening, studies show that participating in physical activities may put someone diagnosed with the trait at higher risk of cardiovascular problems that can be life threatening.
When examining metabolic syndrome, lifestyle modification involving disciplined dietary control and increased physical activity can become more critical than medical therapy.
Deadline for progeria research proposals is September 20, 2016
The triple drug study found increased bone mineral density, but no other improvement. A new study is underway with lonafarnib with everolimus.
The SOLACE organization is a nonprofit group dedicated to increasing shared knowledge about lysosomal acid lipase deficiency (LAL-D).