Nanomedicine seeks solutions against rare diseases

Despite its importance in the fight against pandemics such as COVID-19, a lesser-known face of nanomedicine is its potential to contribute to solutions to so-called rare or minority diseases. Coinciding with February 28th, the world day for rare diseases, experts invited by the Nanomed Spain platform and the Sant Joan de Déu Research Institute (IRSJD) present the latest advances in nanomedicine against three of these disorders: muscular dystrophy, cystic fibrosis and Fabry disease.

NRDD 2022

During the current pandemic, nanomedicine has shown itself to be a key player in offering diagnostic and therapeutic solutions against COVID-19 with, for example, antigen tests or vaccines. But this is not its only field of application: the fight against rare diseases could also benefit from nanomedicine. 

Rare diseases, also known as orphan diseases, are pathologies or disorders that affect a small part of the population, but which, as a whole, can affect up to 8% of the world’s population. These diseases, which generally have a genetic component, manifest themselves in a series of particular symptoms being very difficult to diagnose. They are therefore diseases that separately affect a small number of people, but which have a global impact on society. That is why nanomedicine, the discipline that uses the advantages of materials on a scale up to a million times smaller than the thickness of a hair, is also looking for solutions. 

At Nano Rare Diseases Day 2022, an event organized by Nanomed Spain, the Spanish Nanomedicine Platform coordinated by IBEC, and the Institut de Recerca Sant Joan de Déu, experts from hospitals, companies and research centers in Barcelona presented the novelties that nanomedicine offers against three of these rare diseases: Duchenne muscular dystrophy, cystic fibrosis and Fabry disease. 

Cystic fibrosis: when every breath is harder to take 

Cystic fibrosis is an inherited disease of the mucous and sweat glands. It mainly affects the lungs, pancreas, liver, intestines, sinuses and sexual organs. This disease causes the mucus to be thick and sticky and to become “plugged” in the lungs, causing breathing problems and facilitating the growth of bacteria. This can lead to repeated lung infections and lung damage. 

The big problem with cystic fibrosis is the formation of thin sheets, called biofilms, which make it difficult to treat with antibiotics. Nanomedicine is helping us find better treatments. 

 In our laboratory, we have developed the “Biofilmchip”, a microfluidic system where we can cultivate biofilms obtained directly from patients, and we can treat them with the antimicrobial therapy that we believe is most appropriate. In addition, we can identify how many bacterial types are in each biofilm. 

Eduard Torrents, group leader at IBEC  

The symptoms and severity of cystic fibrosis can vary. Some people have serious problems from birth. Others may have a milder type of the disease that doesn’t show up until adolescence or early adulthood. Sometimes the disease begins with few symptoms that can increase over the time.  

In an attempt to expose more aspects of the disease, Jordi Costa, Pulmonologist at Hospital Sant Joan de Déu, presented this 28th of February, the “New therapeutic approaches in Cystic Fibrosis” from a clinical perspective. On the other hand, the biologist and Group Leader at the Institute of Bioengineering of Catalonia (IBEC), Professor Eduard Torrents, presented “Nanotechnology for the diagnosis and treatment of biofilms that produce chronic infections in Cystic Fibrosis”. 

Muscular dystrophy: when the body stops responding 

Duchenne muscular dystrophy is a rapidly worsening form of muscular dystrophy caused by a defective gene for dystrophin (a protein found in muscles). However, it often occurs in people whose families do not have a known history of this condition. 

The disease most often affects boys because of the way the disease is inherited. In order to meet this challenge, nanomedicine tries to find solutions. To present the latest advances in nanomedicine for muscular dystrophy, two experts working in Barcelona presented their research in this field. 

Nano Rare Diseases Day 

During this event, the latest innovations in Nanomedicine are presented each year, with topics ranging from early diagnosis, controlled release of drugs or the development of new therapies. 

During the conference, experts in Nanomedicine from different fields -research, business, clinical practice, health authorities, patients, etc.- present the latest advances and give us the opportunity to discover the generator of progress that Nanomedicine means for health as a creator of new opportunities in the diagnosis and treatment of rare diseases. 

In this year’s edition, experts from the Sant Joan de Déu Hospital, the Sant Joan de Déu Research Institute (IRSJD), the Institute for Bioengineering of Catalonia (IBEC), the «Duchenne Parent Project Spain», the Sarrià Chemical Institute and the company Nanomol Technologies, have met at the Nano Rare Diseases Day 2022.