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Molecular Diagnostics

Image: Innate immune cells: heterozygous mutations of the RIPK1 caspase-8 cleavage site cause the autoinflammatory disease CRIA syndrome (Photo courtesy of Walter and Eliza Hall Institute)

New Human Autoinflammatory Disease Identified

 Autoinflammatory diseases are caused by abnormal activation of the innate immune system, leading to recurrent episodes of fever and inflammation that can damage vital organs. More...
24 Dec 2019
Image: Bone marrow film from a patient with myelodysplastic syndrome demonstrates small hypolobated megakaryocytes that are typical of the syndrome with isolated del(5q) (Photo courtesy of John P. Hunt, MD)

Distinct Myelodysplastic Syndrome Subtypes Identified by Genomic, Transcriptomic Analysis

 Myelodysplastic syndrome is a premalignant disease that affects myeloid cell. It is a precursor to acute myeloid leukemia, an aggressive blood cancer caused by the accumulation of immature blood cells. More...
23 Dec 2019
Image: Artistic rendering of the surface of a human dendritic cell illustrating sheet-like processes that fold back onto the membrane surface (Photo courtesy of Wikimedia Commons)

Combining RNA Sequencing with a Learning Algorithm to Identify Single Cells in Biopsy Specimens

 A generalized method for classifying single cells based on their transcriptional dataset was published in a recent paper. More...
23 Dec 2019
Image: In healthy people, the CFTR protein is embedded in the membrane of most cells, where it forms a channel for chlorine ions. In people with cystic fibrosis, an inherited mutation in the CFTR gene means their channels do not work as well and cells produce more mucus. The RNF5 protein inhibits CFTR, so people with cystic fibrosis who have genetic variations that decrease RNF5 expression have CFTR channels that function a little better, and thus are not as prone to infections as people with high RNF5 expression (Photo courtesy of University of California, San Diego)

Genome Wide Sequencing Study Reveals Why Some Cystic Fibrosis Patients Develop Fewer Lung Infections

 Results published in a recent paper provided an explanation at the molecular level as to why some cystic fibrosis patients have a reduced tendency to contract chronic lung infections. More...
23 Dec 2019
Image: Degree of islet degradation in human pancreatic islets infected with isolates of enteroviruses, and in uninfected controls. (A) Uninfected human islet displayed no degradation of the islets. (B) Islets infected with an Enterovirus isolate three days post infection. (C) Islets infected with a different isolate three days post infection. (D) Islets infected with the same isolate six days post infection (Photo courtesy of Gun Frisk, PhD).

Virome Shifts Analyzed in Children with Islet Autoimmunity

 Viruses are implicated in autoimmune destruction of pancreatic islet β cells, which results in insulin deficiency and type 1 diabetes (T1D). Certain enteroviruses can infect β cells in vitro, have been detected in the pancreatic islets of patients with T1D and have shown an association with T1D. More...
19 Dec 2019
Image: Photomicrograph of a lung tissue specimen from a patient with an active cytomegalovirus infection. Histopathology revealed the presence of a cytomegalic pneumocyte, which contained the characteristic intranuclear, owl eye inclusion (Photo courtesy of [U.S.] Centers for Disease Control and Prevention)

Exposure to Human Cytomegalovirus Increases Aggressiveness of Glioblastoma and Predicts a Poorer Outcome of the Disease

 Glioblastoma patients who tested positive for antibodies indicating exposure to human cytomegalovirus (HCMV) had more aggressive tumors and poorer prognosis than patients without anti-HCMV antibodies. More...
19 Dec 2019
Image: Bone marrow smear from a patient with mixed phenotype acute leukemia. The marrow aspirate smear has 71% blasts by differential count, with a similar dimorphic morphology as in the peripheral blood with numerous blasts with a dimorphic morphology (Photo courtesy of Elizabeth Courville, MD).

Single-Cell Analysis Uncovers Regulatory Program in Rare Leukemia

 Identifying the causes of human diseases requires deconvolution of abnormal molecular phenotypes spanning DNA accessibility, gene expression and protein abundance. Mixed-phenotype acute leukemia exhibits features of both acute myeloid leukemia and acute lymphoblastic leukemia and, as such, is marked by features of multiple hematopoietic lineages. More...
18 Dec 2019
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