5 documents found, page 1 of 1
Artificial intelligence in epigenetic studies: shedding light on rare diseases
Brasil, Sandra; Neves, Cátia José; Rijoff, Tatiana; Falcão, Marta; Valadão Matias, Gonçalo; Videira, P A; Ferreira, Vanessa dos ReisMore than 7,000 rare diseases (RDs) exist worldwide, affecting approximately 350 million people, out of which only 5% have treatment. The development of novel genome sequencing techniques has accelerated the discovery and diagnosis in RDs. However, most patients remain undiagnosed. Epigenetics has emerged as a promise for diagnosis and therapies in common disorders (e.g., cancer) with several epimarkers and epi...
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CD...
Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, SarahPhosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some pat...
New Insights into Immunological Involvement in Congenital Disorders of Glycosyl...
Francisco, Rita; Pascoal, Carlota; Marques da Silva, Dorinda; Brasil, Sandra; Pimentel-Santos, Fernando M.; Altassan, Ruqaiah; Jaeken, JaakCongenital disorders of glycosylation (CDG) are rare diseases with variable phenotypes and severity. Immunological involvement remains a largely uncharted topic in CDG, mainly due to lack of robust data. To better characterize immune-related manifestations’ prevalence, relevance, and quality-of-life (QoL) impact, we developed electronic questionnaires targeting (1) CDG patients and (2) the general “healthy” pop...
Artificial intelligence (AI) in rare diseases: is the future brighter?
Brasil, Sandra; Pascoal, Carlota; Francisco, Rita; Ferreira, Vanessa dos Reis; Videira, P A; Valadão Matias, GonçaloThe amount of data collected and managed in (bio)medicine is ever-increasing. Thus, there is a need to rapidly and efficiently collect, analyze, and characterize all this information. Artificial intelligence (AI), with an emphasis on deep learning, holds great promise in this area and is already being successfully applied to basic research, diagnosis, drug discovery, and clinical trials. Rare diseases (RDs), wh...
New targets and therapeutic approaches in inherited metabolic disorders
Brasil, SandraInherited metabolic disorders (IMDs) are rare autosomal recessive disorders, showing a high allelic and phenotypic heterogeneity. The main therapeutic goal in these disorders is to restore the metabolic balance and, until now, most available therapies are not definitive and only alleviate the patients’ symptoms. In this work, three IMDs were analyzed, two organic acidurias, propionic and methylmalonic acidurias...