We speak with Gonzalo Bermejo, president of SYNGAP-1 Spain
Gonzalo Bermejo’s daughter Carlota was diagnosed with SYNGAP-1 syndrome almost 4 years ago. She was 11 at the time. " The Spanish West Syndrome Foundation payed for our genetic test and the results
New experimental therapy for patients with recessive dystrophic epidermolysis bullosa proves successful
A new experimental therapy has been successfully tested in 9 people with recessive dystrophic epidermolysis bullosa. The study, led by Standford University (USA), has been published in Nature and
Share4Rare webinar: Medical imaging in rare disease diagnosis
Medical imaging tests allow health professionals to obtain whole-body internal images or to visualize specific parts or organs. These tests are often used to find a diagnosis and to establish disease
Analysis of sleep disorders in SYNGAP-1 syndrome
Neurodevelopmental problems frequently come along sleep disorders. People with this type of brain damage often have trouble falling asleep or resting properly during sleep and may experience daytime
New Share4Rare study: Access to COVID-19 vaccination in people with rare diseases
In 2020 we launched an international registry to study the effects of COVID-19 on people with rare diseases. At that time, there was little or no knowledge about the effects of the pandemic on the
Health-related quality of life in rare diseases
Share4Rare is a growing community with thousands of users (patients, caregivers, and patient organisations) living with rare conditions. To study the impact and the burden of these diseases
The importance of educating patients and families about the science of rare diseases
Science shapes our daily lives — see for example to what extent the COVID-19 pandemic outbreak has affected us and how science is continuously trying to solve this misfortune —, influencing many of
New Share4Rare study on health-related quality of life in people living with rare diseases
The Share4Rare platform is growing day by day. Our safe space is taking in patients and families from all over the world to share knowledge and expertise and boost patient-centred research projects
What is whole genome sequencing and how can it help rare disease research?
A recent paper published in the New England Journal of Medicine reveals that the group of techniques known as whole genome sequencing (WGS) can be of great help on rare disease diagnosis. Through this
Interview with Dr. Eulàlia Baselga, leader of the Share4Rare project on vascular malformations
Eulàlia Baselga has been working on paediatric dermatology for almost 30 years. Her main line of research are vascular malformations, which, in her words, " are very different from patient to patient
