Strabismus as the first symptom of severe congenital disorders
In DBGen we offer a new panel «Panel of Syndromes that occur with Strabismus (Congenital Cranial Dysinnervation Disorders)» designed specifically for the genetic diagnosis of these pathologies. Strabismus is a disorder in which the two eyes are not aligned. The most common form of strabismus is known as «cross-eyed». In most cases it […]
World Rare Disease Day. Interview with a patient
Today is the World Day for Rare Diseases, that is, diseases that affect less than 1 in 2,000 people. Most of these diseases are pediatric and a premature diagnosis opens the door to treatments to stop or slow down the onset of symptoms. Their low frequency makes them largely unknown to most of the […]
Update on phase III therapies for hereditary vision disorders
When discussing the treatment for prevalent disorders such as hypertension or asthma, hardly ever do we stop and consider the time and effort that are needed to move from the characterization of the pathology at the clinical level to the implementation of an effective therapy. Nevertheless, this long, highly regulated process is an unavoidable step […]
GLOBAL STARGARDT’S DISEASE DAY
Stargardt’s syndrome, also known as juvenile macular degeneration, is a rare genetic disorder that usually develops in young adults and causes a progressive degeneration of the macula, the central region of the retina responsible for vsharp, central and color vision. Consequently, the main symptom of Stargardt’s disease is the loss of central vision and color […]
DBGen JOINS THE GLOBAL CELEBRATION OF RARE DISEASES’ DAY
Rare diseases affect less than 1 out of 2.000 people. However, if we take into account the more than 7000 reported rare diseases, the numbers add up to 6% to 8% of global population. In consanguineous populations, the prevalence is much higher, reaching up to 60% (data from FEDER). These pathologies constitute an authentic puzzle: on the […]