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A patient registry collects information about patients who are affected by a particular condition. Registries are databases containing quantitative and qualitative data about the patients. In rare

Omics is an English neologism used in molecular biology as a suffix. This term usually refers to the study of a large set of biological molecules of the same type, usually to obtain information on the

S4R: What does it mean to receive palliative care? Which kind of attention do these children receive? PPCU: Pediatric palliative care is defined by the WHO as the active and total assistance of the

A clinical trial is a research study that investigates how a drug or medical treatment works on people, including children. In the case of rare diseases, this is the only way that patients and

Amniocentesis is a procedure by which part of the amniotic fluid (the liquid contained within the amniotic sac) is removed for genetic testing during pregnancy. It is mainly used to detect anomalies

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

What is the prevalence of a disease? In epidemiology, prevalence is the proportion of individuals in a group or population that presents a specific characteristic or event at a given time or period

The international research consortium Telomere-to-Telomere (T2T) has recently published a complete sequence of a human genome in Science Magazine. It is the first time in history that a completely

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

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

This innovative tool was introduced in Sant Joan de Déu by Mª Josep Planas (HSJD Planning Director) and Núria Serrallonga (Child Life HSJD) through the CTAC (Canine-Assisted Therapy Centre), where Eva

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