Researcher claims to be optimistic about research for Phelan-McDermid syndrome

Phelan-mcDermid syndrome, also known as 22q13 syndrome, represents one of the many fields of the field of rare diseases. Of genetic origin, the condition is caused by changes in the end of the long arm of chromosome 22, directly impacting the functioning of the Shank3 gene, fundamental for communication between neurons. Clinical manifestations include global development in development, neonatal hypotonia (muscle weakness from birth), difficulties in speech acquisition and behaviors associated with autistic spectrum disorder. “It is a syndrome that requires specific genetic examinations to be diagnosed, such as the karyotype or more sensitive techniques such as MLPA (technique used to identify deletions or duplications in specific areas of a gene or chromosome),” explains Guilherme Baldo, research coordinator of the Rare House, a national reference in genetic diseases. “Because it affects a crucial gene in synaptic functioning, it generates a very complex and variable clinical picture, which makes early diagnosis difficult,” he notes.

Hope -current therapeutic limitations do not mean lack of hope. International research already advances with clinical tests of gene therapy aimed at Phelan-McDermid syndrome. The strategy consists of the delivery of a functional copy of the Shank3 gene directly to the patients' brain through a viral vector, AAV9, the same used in therapy for Spinal Muscular Atrophy (AME), another severe genetic disease. Baldo clarifies that, "in the case of Phelan-mcDermid, the goal is to get the gene delivered by the vector to produce the absent protein to neurons, correcting part of the functional deficit."

barriers - Despite global advances, the national scenario still faces difficulties. “In Brazil, research on this condition is limited by a sum of factors such as financing scarcity, lack of cellular and animal models, and structural obstacles for the development of advanced therapies,” says Baldo. He points out that, outside the country, the support of patients and philanthropic investments have accelerated their studies.

Still, there are reasons for optimism. Centers such as the House of Rare and Public Universities have been playing a key role. “Yes, we have infrastructure to diagnose and start studies on diseases such as Phelan-McDermid. The standardization of exams, development of new techniques and training of professionals are essential and possible steps here,” says Baldo. "Universities are also the starting point for innovative therapies, which then attracts the interest of the pharmaceutical industry," he notes.

Learning - with vast experience in lysosomal diseases, Baldo sees important parallels between different rare pathologies. "Each therapeutic breakthrough for a rare condition opens doors to others. The use of AAV9, for example, shows how a successful technology in one disease can be adapted to another, changing only the gene transported," he says.

This logic of "success cases" inspires new strategies and accelerates innovation. In addition, according to Baldo, growing use of artificial intelligence can significantly improve time until diagnosis, increasing the efficacy window for future therapies.

future -for Guilherme Baldo, the future of biotechnology in rare diseases is encouraging. "We are experiencing a revolution. The combination of more accessible genetic diagnosis, artificial intelligence, gene therapies and genomic editing can completely transform the prognosis of conditions such as Phelan-mcDermid," he believes.

Research coordinator of the Rare House ensures that scientists, doctors, patients, family, government and industry have aligned goals: early diagnosis and effective treatment. “And for the first time, we have real tools to make it possible,” he concludes.

“Each therapeutic breakthrough for a rare condition opens doors to others"