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Sometimes we want to give a helping hand, but we are not sure where we should be focusing our efforts. To fight for patients and caregivers' rights, rare disease advocates must learn basic skills and

“ Eilidh was a perfect little baby. She reached her milestones on time until she started - then promptly stopped – crawling. Eilidh wasn’t moving like other 10-month-old babies: she now hated being on

The goal of Share4Rare is to advance the knowledge of rare diseases through collaborative intelligence. This approach assumes a philosophy based on equity, in which the more information the user

What is a translocation? In a chromosome translocation there is a change in the location of the chromosomal material. This can happen because: An error has occurred during the formation of the egg or

Many families will have already started the summer break period. Occasionally, if you do not prepare on time everything you need for your trip, holidays can be more of a nightmare than a period of

Structural chromosomal abnormalities occur when a portion of a chromosome is missing, duplicated or rearranged in some way. Changes in chromosome structure can occur in different ways as we will

It is estimated that there are around 2 million patients in Ukraine suffering from rare diseases. This situation has been exacerbated by the crisis resulting from the war. Rare diseases affect 5 out

First things first: What are genes and chromosomes? Our body is made up of millions of cells and most of these cells contain a complete set of genes. Genes are like a set of instructions that control

Approximately 80% of rare diseases have a genetic origin and are present at birth . However, rare diseases are not always caused by a de novo mutation —occurred spontaneously during reproductive cell

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