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Phenylketonuria (PKU) is an autosomal recessive disorder where the primary catabolic pathway for phenylalanine (Phe) is disrupted due to mutations in the gene encoding PAH. Elevated Phe levels lie behind several neuropathologic anomalies that can lead to severe and irreversible mental retardation, if untreated.
Genome sequencing is a successful approach for simultaneously detecting both copy number variants and sequence variants in genes involved in autosomal recessive diseases.
Geleophysic dysplasia (GD) is an autosomal recessive disease characterized by facial features, short stature, limited joint mobility and cardiovascular and respiratory abnormalities, which can lead to a significant mortality rate. The disease is caused by biallelic genetic variants in the ADAMTSL2 gene. Little is known about the pathogenesis of the disease, but dysregulation of the TGF-β pathway has been shown to be involved.
Researchers from the University of Utah applied RNASeq analysis for an undiagnosed case of a critically ill newborn with a complex phenotype, with the aim of providing better diagnosis and improving treatment outcomes.
By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.
Investigators from the Thomas Jefferson University have presented a case report of a 27-year-old pregnant patient in whom cystic hygroma, extensive anasarca, bilateral pleural effusions, ascites, abnormally curved sacrum and hydrocephalus with parenchymal volume loss, among others were detected by prenatal imaging during pregnancy (onset was at about 21 weeks of gestation).
By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.
Shwachman-Diamond syndrome (SDS) is a rare disease of ribosome biogenesis affecting multiple systems, with predominant manifestations being exocrine pancreatic insufficiency, bone marrow failure and leukemia predisposition, among others.
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