Category Archives: Clinical & Research Blog

Cerebral amyloid angiopathy alters endothelial gene expression patterns

Alzheimer’s disease (AD) is the most common form of dementia in older adults. Cerebral amyloid angiopathy (CAA), which is characterized by the deposition of β-amyloid (Aβ) peptides within cerebral blood vessels, co-occurs with AD in 85-95% of AD cases and is an independent contributor to AD dementia.

PROTAC resistance in cancer cells is mediated by MDR1 drug efflux activity

Selectively inhibiting protein function through proteolysis-targeting chimeras (PROTACs) has emerged as a novel cancer therapeutic strategy. PROTACs are small molecules with two active domains that bind to an E3 ubiquitin ligase and a protein of interest, which results in the ubiquitination and subsequent degradation of the protein of interest.

Known cancer driver mutations found in endometrial polyps at low allelic frequencies

Endometrial polyps (EMPs) are localized overgrowths of endometrial tissue that are composed of endometrial glands, stroma, and blood vessels. The reported prevalence of EMPs increases with age and ranges from 8-35%, depending on the population studied. EMPs are generally considered to be benign, with risk of malignancy around 3%. However, EMPs have been associated with several endometrial cancers.

Loss of chromosome Y linked to AML and clonal hematopoiesis

Mosaic loss of chromosome Y (mLOY) is the most common form of clonal mosaicism and is recurrent in the blood cells of adult males. This chromosome alteration typically increases with age and has been linked with aging-related diseases including clonal hematopoiesis (CH), in which a single hematopoietic stem and progenitor cell (HSPC) gives rise to a genetically distinct subpopulation of peripheral blood or bone marrow cells, and acute myeloid leukemia (AML).

PDGFRA mutation increases cell proliferation in vitro via an oncogenic splice variant

The era of personalized medicine and genome-based cancer therapies has been accelerated by next-generation sequencing technologies, which allow for the identification of gene variants with clinical implications for diagnosis, prognosis, and patient care. However, many newly identified variants have yet to be linked to disease, and these are referred to as variants of uncertain significance (VUS).

Oncogenic lncRNA PCAT2 linked to chromosome instability in cancer

hromosome breaks and translocations are often critical factors in tumorigenesis and cancer progression. One primary contributor to these types of chromosomal instability is the mis-regulation of histone proteins. Histones are responsible for packaging the human genome into chromatin and can be divided into five main families: H1/H5, H2A, H2B, H3, and H4.

Poor prognosis and aggressive features of primary adrenal DLBCL linked to PD-L1 gene alterations

Primary adrenal (PA) lymphoma is extremely rare, accounting for less than 1% of all non-Hodgkin lymphomas, yet is very aggressive and has a poor prognosis, with a general survival time of less than one year. In most cases, PA lymphomas are derived from B cells, with diffuse large B cell lymphoma (DLBCL) being the most common phenotype.

Empire Genomics Welcomes Andre Lubarsky as US Sales Director

July 20th, Buffalo, NY – Empire Genomics, a company that develops high-quality molecular probes for fluorescent and chromogenic in situ hybridization testing, has selected Andre Lubarsky to initiate the new North American business development strategy as Director of Sales. Andre is a seasoned sales director, most recently with System Biosciences, Inc., who will now be leveraging his experience to develop and execute key growth sales strategies in the United States and North America.

Point mutation causes dramatic shift in HIV-1 integration sites

Retroviruses, such as the human immunodeficiency virus (HIV-1), insert a copy of their genome into the host cell genome during a process called integration. This allows retroviruses to persist indefinitely in the infected cell as a provirus. During integration, the virally encoded integrase (IN) protein binds to various host factors that likely act as a tether between the viral IN protein and the host chromatin at the integration site.