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Streptococcus pneumoniae (S. pneumoniae) bacteria, or pneumococcus, can cause many types of illnesses. These range from ear and sinus infections to life-threatening conditions such as pneumonia, bloodstream infections, and meningitis. Pneumococci are surrounded by a polysaccharide capsule, which is thought to help it evade the immune system. Presently, over 90 known serotypes of S. pneumoniae have been identified, of which only a minority produce the majority of pneumococcal infections; a serotype is defined by a unique pneumococcal capsule structure.

Clinical and biological specimens often contain microbial nucleic acid in extremely low quantities, presenting a significant challenge for the detection of viral and bacterial pathogens. This also prevents direct sequencing of non-culturable samples using next-generation sequencing (NGS). Currently, NGS library preparation on most platforms requires 0.1 ng to 10 µg of DNA or cDNA, while microbial or viral nucleic acids in clinically relevant specimens, such as blood, serum, respiratory secretions, cerebral spinal fluid, and stool, often contain less than 0.1 ng.

Immunoglobulins play a key role in the immune system. CDC has developed and tested hybridoma cell lines (monoclonal antibody (mAb) clones) for human IgG and other immunoglobulins. The mAbs generated from those hybridomas could be used as a reagent (second Ab) of anti-human immunoglobins in a diagnostic assay for SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2), the virus that causes COVID-19 (coronavirus disease 2019) and other assays that detect antigen specific antibodies from human sera.

This technology includes a method to facilitate identification of drug targets that can prevent SARS-related viruses from entering human cells with ACE2 receptors on the plasma membrane. Surface binding to cellular ACE2 of the SARS-CoV-2 virus is the first step of infection for the disease COVID-19. The invention allows for visualization of cell binding and entry of a “quantum dot conjugated virus spike protein” (hereafter referred to as either a ‘QD-Spike conjugate’ or a ‘pseudo-virion’) and can be used to screen libraries of drugs that prevent/inhibit this cell entry.

This technology includes device and sensor selection for the detection of blood metabolites which can be used to diagnose and monitor diseases in real-time. Currently the monitoring of metabolite levels is performed with specialized mass spectrometry instrumentation, therefore patient quality-of-life and financial advantages exist to develop devices capable of detecting metabolites in real-time.

This technology includes a codon optimized expression vector for the high expression and production of RLIP-76 which can be used to provide protection from radiation. RLIP-76 is a multifunctional membrane protein that transports glutathione conjugates of electrophilic compounds outside the cell. The sequence was generated with codon bias alterations, reduction of secondary structure, lowering of GC content, and removal of cryptic elements that could affect expression in E.coli.

This technology includes a precise measurement assay of cellular FMRP levels in patients, which can assist in the diagnosis and assess the severity of Fragile X syndrome (FXS). FXS is an X-linked disorder that produces intellectual disability, cognitive impairment, epilepsy, depression and anxiety. FXS is caused by mutations in the Fragile X Mental Retardation-1 (FMR1) gene that result in the absence or a loss of function of its protein product, FMRP.

This technology includes the development of devices capable of real-time evaluation of metabolite levels for the treatment of numerous metabolic disorders, including hyperammonemia and aminoacidopathies. Currently, the monitoring of metabolite levels is done in a hospital setting with specialized mass spectrometry instrumentation. As a consequence, susceptible patients who are undergoing a crisis need to visit the hospital for testing to determine if there is a metabolite disturbance.

Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. The most common cause of isolated MMA is genetic deficiency of the enzyme methylmalonyl-coA mutase (MUT), which, unfortunately for the affected patients, is also the most clinically severe. NHGRI scientist have invented a series of assays to assess hepatic MUT activity using a stable isotopic tracing assays to measure MUT function to assess corrective therapy on hepatic mitochondrial function.

This technology includes cell lines from patients with gangliosidosis diseases for the screening of potential therapeutics. Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides. GM1 gangliosidosis is an ultra-rare lysosomal storage disorder caused by mutations in galactosidase beta 1 (GLB1) that result in a deficiency of beta-galactosidase. GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by accumulation of GM2 ganglioside due to the absence or near absence of B-hexosamindase.