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This technology includes a new set of synthetic PCCB genes that can be used to treat propionic acidemia (PA) caused by propionyl-coA carboxylase beta (PCCB) mutations. The amino acid sequence of PCCB was reverse translated, using a variety of algorithms and expert input, to generate novel DNA sequences encoding PCCB (synPCCB1-5) expected to have increased expression.

Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by mutations in either PCCA or PCCB. The products of these genes form the alpha and beta subunits of the enzyme propionyl-Co A carboxylase (PCC), a critically important mitochondrial enzyme involved in the catabolism of branched chain amino acids. NHGRI scientist have developed a new set of synthetic PCCA genes that can be used to treat PA caused by PCCA mutation(s).

This technology includes mouse models (heterozygous for the knock-in (KI) and homozygous for the knock-out (KO)) to be used as research reagents and to study molecular mechanisms and potential therapies for Familial Mediterranean fever (FMF). FMF is the prototype of a group of inherited disorders characterized by recurring, spontaneous episodes of fever and localized inflammation. The gene responsible for FMF is composed of 10 exons encoding a 781 amino acid protein known as pyrin.

This technology includes two human fibroblast cell lines to 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.

This technology includes endometrial cancer cell lines for use in molecular and cellular studies to determine the effects of cancer-associated FBXW7 (F-box and WD repeat domain-containing 7) mutations, including but not limited to biochemical studies, proteomic studies, and drug sensitivity/resistance studies. Clustered Regularly Interspaced Palindromic Repeats (CRISPR) editing was used to knock-in individual FBXW7 mutations into the ARK1 serous EC cell line, which lacks detectable endogenous FBXW7 mutation(s).

This technology includes six cell lines for the study of Glucocerebrosidase (GBA1) mutations which could be used for the evaluation and eventual treatments for conditions such as Gaucher's disease and Parkinson's disease. GBA1 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 (derived mostly from ingested red and white blood cell membranes) in tissues, which is a major symptom of Gaucher disease.

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).

NCATS has developed a highly diverse synthetic library that will allow for the rapid identification of novel nanobodies that bind to a wide arrange of target antigens. The humanized framework used to construct the library will facilitate the transition of lead candidates into patient studies. Several highly potent SARS-CoV-2 nanobodies (antibodies) have been identified and are available for further development.

NCATS is actively seeking licensing for the 1) a synthetic library and 2) the potent neutralizing antibodies with activity against SARS-CoV-2.

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.