Main Menu

This technology includes two human fibroblast cell lines be used to study the defects in GBA1 gene and protein and to screen small molecules for involvement in Gaucher disease. Glucocerebrosidase (GBA1 or GCase or beta-glucosidase) is a lysosomal enzyme, responsible for breakdown of a fatty material called glucocerebroside (or glucosyl ceramide). Deficiency or malfunction of GBA1 leads to the accumulation of insoluble glucocerebrosides in tissues, which is a major symptom of Gaucher disease. Gaucher disease is a rare and heterogeneous disorder, caused by inherited genetic mutations in GBA1.

This technology includes a high-yield, easy-to-culture mouse neuronal cell model with nearly complete glucocerebrosidase deficiency representative of Gaucher disease (GD) to study pathophysiology and evaluate new therapies. GD is an autosomal recessive lysosomal storage disorder caused by loss-of function mutations in the GBA1 gene, which codes for the lysosomal hydrolase glucocerebrosidase (GCase).

This technology includes monoclonal antibody (mAb) that binds to the junction region of the PAX3-FOXO1 and PAX7-FOXO1 fusion protein for the diagnosis of Alveolar Rhabdomyosarcoma (ARMS). Specifically, two monoclonal antibodies (PFM.1 and PFM.2) have been isolated that recognize the 92kDa bands found uniquely to the pediatric striated muscle tumors of the type Alveolar Rhabdomyosarcoma (ARMS) carrying the characteristic t(2;13)(q35;q14) or t(1;13)(p36;q14) chromosomal translocations.

This technology includes lymphoblastoid cell lines from individuals genotyped as carrying the minor (G) allele of ABCA7 SNP rs113809142 [ss491752998; SNV-chr19-1007244], to be used for small molecule screening and eventual therapeutic development. The ABCA7 gene is the ATP-binding cassette, sub-family A (ABC1), member 7. It encodes a protein that is a transporter and has been associated with such diseases as neonatal respiratory failure and Asperger's syndrome. It is also known to play a role in phagocytosis of apoptotic cells by macrophages and may mediate cholesterol efflux.

This technology includes a panel of 46 genomic loci of DNA methylation (represented by CpG dinucleotides on different chromosomes) with application in blood-based cancer screening. The markers robustly distinguish tumor from normal samples using 8 loci and classify 13 different tumor types. Using 39 loci, inventors were able to discriminate between individual tumor types or peripheral blood. In 4052 tumor samples from 13 tumor types, the true positive rate of classification was 91.4%.

Children with Hutchinson-Gilford progeria syndrome (HGPS) suffer from acceleration of certain aging symptoms, mainly cardiovascular disease that generally leads to death from myocardial infarction and/or stroke. The cause of HGPS has been discovered to be a de novo point mutation in lamin A (LNMA) gene. NHGRI Scientist have generated a transgenic mouse model of HGPS. This mouse carries a bacterial artificial chromosome (BAC) with a De novo mutation 1824 C to T (G608G) mutated form of human LNMA.

Congenital disorders of glycosylation (CDGs) are inherited disorders of abnormal protein glycosylation that affect multiple organ systems. More than 100 different CDGs have been described, affecting protein and lipid glycosylation. NHGRI investigators have been able to isolate fibroblasts from patients with PMM2 (phosphomannomutase)-CDG, also known at CDG type Ia, which is an inherited, broad-spectrum disorder with developmental and neurological abnormalities.

This technology includes human cell lines from patients who have genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase, causing the rare congenital disorder of glycosylation type IIb, also known as MOGS-CDG. This defects appears to impair the ability of viruses to infect a second round of cells, which can be used to study and prevent infections. This is likely related to impaired viral replication and cellular entry. This finding has implications for Ebola and Zika, as well as other viral infections.

This technology includes a transgenic mouse model of Niemann-Pick Disease Type C (NPC), which is a rare neurodegenerative disorder, characterized by intracellular accumulation of cholesterol and gangliosides. The mouse strain, Tg(Npcl), expresses wild-type NPC1 gene under the control of the prion promoter. When combined with the NPC deficient mouse model, BALB/c npcnih/nih, also known as Npcl-/-, the transgene insertion allele rescues life expectancy of Npc1-/- mice. Npc1-/- mouse have reduced life expectancy and die around 8 weeks, making it a difficult model to be utilized.

This technology includes transgenic mice to be used in the study of melanocyte stem cells (MSCs) for utilization in regenerative medicine. Using the melanocyte system as a model, we investigated establishment of MSCs in the hair bulge - the stem cell compartment of the hair. During embryogenesis, all melanoblasts express SOX10, but this expression is downregulated during hair follicle morphogenesis and MSC differentiation. To further study the role of SOX10, we generated transgenic mice overexpressing SOX10 in melanoblasts.