Research

Some diseases are inherited in a family in a dominant way. This means that a child may inherit a normal copy of a gene and a mutated copy, and yet the latter will dominate or invalidate the working

Within neuromuscular diseases, there is a broad group of low prevalence disorders known as congenital muscular dystrophies, which shown both clinical and genetic diversity. Symptoms usually appear at

CIBERER and Share4Rare have established a collaboration agreement to boost rare disease research. As a secure digital platform open to patients and caregivers from all over the world, Share4Rare

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

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

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

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

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

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