Lymphoedema is the swelling of one or several parts of the body owing to lymph
accumulation in the extracellular space. It is often chronic, worsens if untreated, predisposes …

The International Rare Diseases Research Consortium (IRDiRC) was founded in 2011 with
the conviction that rare diseases research had reached a critical juncture. Proof of principle …

Rare diseases by definition are conditions that affect small numbers of people. The
prevalence threshold that designates a disease as rare varies in different countries …

Deep Learning (DL) is a powerful solution for complex problems in many disciplines such as
finance, medical research, or social sciences. Due to the high computational cost of DL …

Highlights•Rare diseases collectively impact a large portion of the world's
population.•Advances in technology are allowing a better understanding of rare …

SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that
belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA …

Mucopolysaccharidoses (MPS) are estimated to affect1 in 25,000 live births although
specific rates vary between the ethnic origin and country. MPS are a group of lysosomal …

Since Garrod's first description of alkaptonuria in 1902, and newborn screening for
phenylketonuria introduced in the 1960s, P4 medicine (preventive, predictive, personalized …

Background In order to facilitate the diagnostic process for adult patients suffering from a
rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the …

Background Given the increased availability of data sources such as hospital information
systems, electronic health records, and health-related registries, a novel approach is …