Blog

Àngels Puigvert's life is anything but calm, but he was able to find some time to answer some questions about her daughter and the work carried out by her association. Thank you Àngels! "Queralt was

In this session we will explain the Share4Rare research project on neuromuscular diseases. This study collects information about quality of life/burden of the pathology and the impact of the disease

In this session we will explain the Share4Rare research project on neuromuscular diseases. This study collects information about quality of life/burden of the pathology and the impact of the disease

He has been one of the thinking heads of our international registry of patients with COVID-19 and rare diseases. Dr. Pablo Barvosa is a pediatrician with extensive experience in the Argentinian health

As part of the recent celebration of Rare Disease Day, the CREER Foundation (Spanish reference care centre for rare diseases) held an open day for professionals and affected people to share the latest

Young and adult caregivers’ emotional and physical health are usually highly affected: anxiety, depression or feelings of isolation, lack of physical activity, unhealthy eating habits, etc. In this

Genetic origin of pNETs As it seems, there are several risk factors that may make a child or adolescent more likely to develop a neuroendocrine pancreatic tumor or pNET. These risk factors are

As we mentioned in a previous article, PI3K related overgrowth syndromes, which include Proteus syndrome, have been linked to a mutation in AKT, (in this case the isoform AKT I) and has a prevalence

“Starting in 2015, we have a dedicated department to include patients and caregivers in research projects”, explains Begonya Nafria, the hospital’s Patient Engagement in Research Coordinator. “This

Bettina, thank you for taking the time for this interview today. MPNE is one of the Share4Rare project partners and is launching a research project into the burden of melanoma on the platform. Could

Behind every Share4Rare research project, there are great medical researchers. Dr. Ofelia Cruz is one of these professionals, and she participates in the study that seeks to detail as much as possible

The field of rare neuromuscular diseases houses many types of conditions, each with its own disease expression. One thing they all have in common is that being or caring for an individual with a