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Saturday, August 13, 2022

This app diagnoses rare diseases just by looking at the patient’s face

Rare diseases are those whose prevalence is less than 5 cases per 10,000 people, according to the Rare Diseases Patient Registry. Within Spain, most diagnoses have been made Tarlov cyst (276 people), retinitis pigmentosa (172 people) and dystrophic epidermolysis bullosa (164).

Although these are the most common, the number of people affected by these diseases is not very high. For this reason, many times doctors are not able to identify these conditions with complete accuracy and this is where techniques can be used.


face2gene

Face2Gene is an application that helps health experts find people with the same disease as their patients. Overall, its algorithm is able to identify about 300 disorders Through facial scanner of persons.

Not all rare diseases can be detected by the face, however, until now fDNA scientists relied on this system to facilitate diagnosis.

size matcher

This new proposal from fDNA and several international institutions aims to be more accurate and effective than the previous application. as they say, can distinguish about 1,000 rare diseases related to the facial similarity of patients, So it triples the results of your other algorithms.

,Photographs of 17,560 patients with 1,115 rare disorders were used to define the clinical facial phenotype space, in which the distance between cases defines syndromic similarity”, they report on their website.


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The company states that its tool was useful in diagnosing children from two families from different countries. One was from Norway and one from Germany, Both had growth problems, tremors and a triangular face.

The doctors of these patients used genetic sequencing and found that He had a mutation in a gene called LEMD2. With the help of the GestaltMatcher website, health workers were able to contact each other and know about other related matters.

Felix Marbach, a doctor at the University of Heidelberg who worked on the project at the University of Cologne, commented that the algorithm The experts were “helped” when it comes to doing something new for them.

World Nation News Desk
World Nation News Deskhttps://worldnationnews.com/
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