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Genetic Diseases at UMass Medical School.

Research topics on Genetic Diseases and the Genomics at UMMS includes: 

Genome modifying tools like CRISPR and/or gene function rescueing AAV technology. These technology and improve multiple genetic diseases and more. Browse our innovation by scrolling though below. 


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Browse Our Inventions:




Title: Screening Novel Clinical Vectors Packaged with Naturally Occurring AAV Capsid Variants from the Human Population with Desired Tissue Tropisms and Properties. UMMS16-71. Patent Pending.

  • The current invention discloses AAV genome sequences that were isolated from normal and diseased human tissue. A novel approach to extract AAV variants allowed for detection of diversity of viral genome. Cap sequences have been determined from the isolates from human biopsies, and include five tissue types and four tumor types. The aggregation of naturally occurring AAV2 and AAV2/3 hybrid variants are unique and have a novel tropism profile suited for tissue targeting purposes.

Title: AAV2-mediated Gene Delivery of sFasL as a Neuroprotective Therapy in Glaucoma. UMMS16-64; Patent Pending.

  • New AAV therapy facilitates long-term production of sFasLin the retina by intra-vitreal injection with no detrimental effect observed in normal animals. Glaucoma-prone mice were injected either before or after disease onset and both animals were found to have preserved retinal ganglion cells with their axons, which normally results in death with onset of the disease. 

Title: Use of miR-122 to Treat Liver Diseases. UMMS16-56; Patent Pending.  

  • This invention builds on the new discovery that grainyhead-like 1 and 2 (GRHL-1 and -2) proteins inhibit tumor suppressor, microRNA-122 (miR-122). Increasing the bioavailability of miR-122 may potentially help to treat liver diseases such as steatosis, inflammation, fibrosis, and liver cancer such as hepatocellular carcinoma. Therapeutic inhibition GRHL-1&2 may restore the positive therapeutic effects of miR-122 in liver. 

Title: CARDS: CRISPR Arrayed Repeat Detection System / Part II. UMMS16-41; Patent Pending. 

  • This invention provides a means to resolve the 3-D genome in live cells by disclosing a novel CRISPR-based system in which as many as six different genomic loci can be labeling, each in a distinctive color, in live cells. This technology, called "CRISPRainbow" is far more expansive that fluorescence in situ hybridization (FISH) conducted on fixed cells. The invention further discloses methods to track by real-time fluorescence microscopy the assembly dynamics and target residence lifetimes of CRISPR machinery in live cells. 

Title: The Use of Phage anti-CRISPR Proteins for the Control of Cas9 Genome Editing. UMMS16-39; Patent Pending. 

  • This novel “off-switch” for Cas9 is important for preventing off target editing effects from CRISPR technology. This technology consists of proteins that have the ability to inhibit NmeCas9 nuclease. This invention has great potential for application in genome editing with CRISPR in human application. 

Title: In vitro and in vivo Transduction of Intact Pre-implantation Mammalian Embryos. UMMS16-29; Patent Pending. 

  • This invention simplifies genetic engineering in mammalian research and commercial settings by introducing nucleic acids into mammalian embryos without the need for conventional mechanical methods, microinjection or electroporation, which can be lethal. The new transgenic platform works simply by exposing AAV viral particles to an “intact” pre-implantation embryo. Using this method minimizes the need for labor-intensive embryo harvesting and transferring into pseudopregnant females. 

Title: Development of Anti-angiogenic miRNA Therapeutics for Corneal Neovascularization. UMMS16-23; Patent Pending. 

  • This new technology includes two novel inventions: 1) discovery of miRNAs that influences the neovascularization of the cornea and 2) optimization of rAAV gene therapy method for specific delivery to the cornea. Neovascularization is the most common corneal pathological condition and underestimated cause of blindness. Injection of the rAAV constructs that include synthetic nucleic acids that mimic or inhibit the discovered miRNA can reduce corneal neovascularization in mice. 

Title: Method to Enhance the Efficiency of Systemic AAV Gene Delivery to the Central Nervous System. UMMS16-19; Patent Pending.

  • This invention relates to compositions and methods for increased efficiency of gene transfer to the CNS. The invention is based on the surprising discovery that viral vector-mediated delivery of nucleic acids to the CNS of a subject can be enhanced by administering the viral vector (rAVV) with a composition comprising a highly hydrophilic molecule conjugated to a blood brain barrier (BBB)-receptor ligand (e.g., K16ApoE). 

Title: Closed-ended Linear Duplex DNA (CELiD) for Non-Viral Gene Transfer: Methods, Materials, and Uses for Therapeutic Gene Transfer. UMMS16-18; Patent Pending.  

  • This invention provides a novel gene delivery vector that elicits little immune response and is not limited in carrying capacity. The invention discloses novel closed-ended linear DNA molecules suitable for long-term gene therapy and methods of delivery. 

Title: Gene Therapy and/or Small Molecule Treatment to Correct Beta-Oxidation and Glycolysis in Neurodegenerative Disorders Involving N-Acetylaspartate (NAA) Metabolism and its Associated Metabolic Pathways. UMMS16-17; Patent Pending.

  • Newly discovered phenomenon in which changes in brain energy metabolism is observed when N-Acetylaspartate (NAA) levels are perturbed. Altered NAA levels are associated with Cavagan and neurodegenerative diseases where there is increased preference for utilization of fatty acids over glucose, leading to white matter loss. 

Title: Gene Therapy and/or Small Molecule Treatment to Correct Beta-Oxidation and Glycolysis in Neurodegenerative Disorders Involving N-Acetylaspartate (NAA) Metabolism and its Associated Metabolic Pathways. UMMS16-17; Patent Pending.

  • Newly discovered relationship between N-Acetylaspartate (NAA) metabolite levels and glucose metabolism. Introduction of ASPA gene can reverse metabolic changes that occur with decreased levels of NAA. Monitoring and adjusting the NAA levels may have implication for wide range of diseases that display changes in bioenergetics metabolism.   

Title: Adeno-associated Virus Serotype Vectors Efficiently Transduce Normal Prostate Tissue. UMMS16-16; Patent Pending.

  • Newly discovered rAAVs that can effectively apply gene therapy to the prostate. With direct local injection of rAAV into the prostate, this technology holds the potential to treat numerous diseases, including prostate cancer, without the need for expensive and painful sugary, radiotherapy and medication. 

Title: Novel Metabolically Stable Oligonucleotide Conjugates. UMMS16-09; Patent Pending. 

  • The invention discloses novel hydrophobically-conjugated oligonucleotides useful for RNA interference. The oligonucleotide conjugates are characterized by efficient RISC entry, minimum immune response and off-target effects, efficient cellular uptake without formulation, and efficient and specific tissue distribution. 

Title: Repairing Compound Heterozygous Recessive Mutations By Allele Exchange. UMMS16-08; Patent Pending. 

  • This new mutation repair innovation builds on a previously existing two steps gene editing system: 1) induce a break in the genome where the disruption is protective and 2) repair this break with known new mutation. The clever new approach focuses on the first step, which could help patients suffering from genetic diseases caused by two mutations located within a single gene (compound mutation). This concept circumvents the need to utilize the second step of the gene editing technology in these compound mutations because the inventors capitalized on the allele exchange process that occurs in a normal biological setting.

Title: DNase H Activity of Neisseria Meningitidis Cas9. UMMS16-05; Patent Pending. 

  • This new technology capitalizes on the discovery of DNase H activity in NmeCas9 that could serve as a novel programmable RNA-guided "restriction enzyme" that cleaves ssDNA, with no sequence constraints. Compared to RNase H that degrades the RNA strand of a RNA-DNA hybrid (with little or no sequence preference), NmeCas9's DNase activity makes specific cuts and has the opposite nucleic acid specificity, i.e. cleaving the DNA strand of the hybrid duplex.

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Title: SerpinA1 Null Mouse as a Model for Alpha-one Antitrypsin Deficiency and Lung Conditions. UMMS15-62. Patent Pending. 

  • The invention provides a novel mouse model with alpha-one antitrypsin deficiency for use as a tool to study lung conditions including emphysema. With the use of the recently developed CRISPR technology, the inventors designed and implemented a strategy to delete all five copies of the SerpinA1 gene at once overcoming previous technical limitations preventing development of SerpinA1 null mice.

Title: CARDS: CRISPR Arrayed Repeat Detection System / Part I. UMMS15-58; Patent Pending. 

  • This invention discloses a platform to detect DNA repeat expansions called CRISPR Arrayed Repeat Detection System (CARDS). Utilizing this platform primary cell cultures and/or blood cell smears can be tested under conventional clinical diagnostic laboratory conditions to diagnose genetically-based diseases having DNA repeat expansions, including but not limited to ALS. Further disclosed are dCas9 constructs having fluorescent proteins bound to any or all stem loop sequences, wherein detection of a plurality of dCas9 constructs having different colored fluorescent proteins can simultaneously detect at least six (6) different gene target loci.

Title: New XCI Inhibitors as Potential Rett Syndrome Therapeutics. UMMS15-53; Patent Pending.

  • This invention provides methods of treating a subject having a dominant X-linked disease, the method comprising administering to the subject an X chromosome inactivation factor (XCIF) inhibitor in an amount effective for inducing expression a target X-linked gene. The invention provides small molecule and oligonucleotide XCIF inhibitors. In some embodiments, the X-linked gene is MECP2 and the X-linked disease is Rett Syndrome.

Title: Transgenic Expression of DnaseI in vivo Delivered by an Adeno-associated Virus Vector. UMMS15-38; Patent Pending.

  • This invention uses AAV therapy to deliver an important enzyme, DNaseI, for cyctic fibrosis (CF) treatment. Traditional clinical methods of DnaseI delivery use solely nebulizers, which limit the delivery of the enzyme to the lung. With this new quality-controlled AAV vector for delivery, DnaseI can now be delivered locally to other organ systems affected by CF for more comprehensive disease management.

Title: Transient Delivery of Designer Nuclease Protein Using Viral Vectors For Safer Gene Editing. UMMS15-34; Patent Pending.  

  • This new technology addresses the fundamental issues arising in the emerging biotechnology of gene editing, off-target effects from prolonged treatment. Specifically, this invention improves the CRISPR gene editing system by delivering its nuclease component Cas9 by using a traditional gene therapy method utilizing AAV. Once nuclease Cas9 is delivered, the Cas9 will slowly degrade and yield a reduction in genotoxicity and undesirable off-target genome editing associated with CRISPR therapy.

Title: Development of Efficient and Safe rAAV Compatible Silencing Construct. UMMS 15-29; Patent Pending. 

  • This invention spans from the invention of UMMS15-28, an rAAV optimized for compatibility and efficacy for shRNA delivery. This process was tested in UMMS15-28 by examining the regional importance of shRNA within the viral genome. This upgraded shRNA-rAAV delivery system has optimized flanking sequences and shRNA structure. The shRNA backbone has lower loop complementarity, causing lower thermodynamic stability that increases its efficacy. This concept was tested by designing multiple Artificial miRNA (AmiRNA), where AmiRNA have the optimized structure while still possessing the shRNA interfering properties. This mechanism for shRNA deliver is highly efficient and safe for sustained silencing.

Title: Novel rAAV Genome Designs Using Artificial Hairpin Loop Structures to Replace at least One AAV Inverted Terminal Repeat (ITR). UMMS 15-28; Patent Pending. 

  • This invention capitalizes on the discovery that short hairpin RNA (shRNA) can hinder viral genome replication when specifically placed in relationship to the AAV ITR. To improve the efficacy of AAV-mediated shRNA delivery, the inventors designed and tested multiple rAAV with shRNA placed in different regions of the AAV genome in order to identify the optimal AAV vector for shRNA.

Title: Fully Stabilized Assimetric siRNA Compounds: an Optimal Scaffold for Conjugate Mediated Delivery. UMMS15-25; Patent Pending. 

  • This invention discloses hydrophobically-modified siRNA, featuring an advanced stabilization pattern, "hsiRNA-ASP". These siRNA compounds having the following properties: (1) fully chemically stabilized (i.e., no unmodified 2'-OH residues); (2) asymmetry; (3) 11-16 base pair duplexes; (4) alternating patten of chemicically-modified nucleotides (e.g., 2'-flour and 2'-methoxy modifications); (5) single-stranded, fully phosphorothioated tails of 5-8 bases. siRNAs with these structural properties show a dramatic enhancement in potency (5-10) fold in unassisted delivery. Also embodied are hsiRNA-ASPs conjugated to targeting agents including, but not limited to, cholesterol. Further, alteration of hsiRNA-ASP PS content has a major impact on tissue distribution and oligonucleotide uptake making these compounds very attractive therapeutic agents.

Title: Using Cas9 Coupled Histone Effector to Investigate Enhancer Function. UMMS15-23; Patent Pending.  

  • The invention uses CRISPR targeting to provides a rapid high throughput system to determine the contribution of distal cis-regulatory elements to development and disease. This method is faster and more versatile than using TALE of ZFN effectors. This level of genome control has previously not been achieved with other RNA-guided regulatory technologies such as RNAi. 

Title: New AAV Vectors for Safe and Efficient Expression of Lysosomal Enzymes in the CNS. UMMS15-19; Patent Pending. 

  • New AAV vectors that enable transgene expression at therapeutic levels for treatment of lysosomal and other disorders. These levels are achieved without the adverse events that arises due to secondary effects of AAV-mediated product delivery. This newly engineered regulatory element can apply broadly to circumvent adverse effects of AAV therapy. 

Title: T Cell Hybridomas Expressing Luciferase Under the Control of IL-2 Promotor Element. UMMS15-15. 

Title: Hedgehog Signaling in Bipolar Affective Disorder. UMMS15-02; Patent Pending. Related Publication.

  • The invention encompasses methods of treating psychiatric affective disorders by administering to the subject a therapeutically effective amount of an antagonist to Smoothened (Smo), an antagonist to Patched-1 (Ptch-1) and/or an antagonist to Sonic Hedgehog. The invention further provided methods for diagnosing affective disorders. 

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Title: Position specific requirements for nucleotide pairing or mismatches between microRNA or small interfering RNA (siRNA) and target RNA to promote occupancy and retention of an Argonaute protein or RNA-induced Silencing Complex (RISC) on a target RNA. UMMS14-70; Patent Pending.

  • This new invention of “tether” oligo allows for siRNA delivery with higher potency and tissue specificity in medical applications. Tethering endogenous miRNAs that are highly tissue specific can direct them to the target mRNA of interest and this nuclease-resistant oligo can robustly increase efficacy of siRNA therapy. Unlike previous methods, this oligo restricts siRNA to specific cell types which may yield reduced off-target effects. 

Title: Broadening the Precision and Targeting Range of Cas9 through DNA Binding Domain Fusions and PAM Recognition Mutations. UMMS14-68; Patent Pending.

  • New Cas9 technology with improved activity, precision, and sequence targeting range. This new Cas9 nuclease-DNA targeting unit chimera utilizes programmable DNA binding domain for editing specificity. The chimeric nuclease complex allows for conjugation of other Cas9 variants to reduce off-target and undesired editing of the genome. This improved Cas9 technology will have application for future human gene therapy. 

Title: Novel High Efficiency Library-identified CNS-tropic AAV Vectors. UMMS14-59; Patent Pending.

  • Newly designed recombinant AAV capsids with greater efficiency for CNS delivery than AAV9, the natural variant with the currently highest known CNS transduction efficiency. These new AAV capsids, B1-B4, show considerably lower off-target effects in the liver when compared to AAV9. Additionally, each of these AAV capsids show selectively higher efficiency for specific peripheral tissues (e.g. pancreas, sk. muscle, heart, adipocyte). 

Title: Novel High Efficiency Peptide Grafted CNS-tropic AAV Vectors. UMMS14-58; Patent Pending. 

  • New AAV technology with an insertion of 19-amino acid “alanine string” that has dramatically increased CNS tropism compared to that of AAV9, the natural variant with the currently highest known CNS transduction efficiency. This technology shows increased CNS transduction without changing transduction efficiency of peripheral tissues. 

Title: Modified Mullerian Inhibiting Substance (MIS) Proteins and Uses Thereof for the Treatment of Diseases. UMMS14-56; Patent Pending.

  • A new recombinant human MIS protein with improved effectivity may improve the treatment of cancer or neurodegenerative disease. This technology maximizes bioactivity using a leader sequence and a modified cleavage site that promotes increased product yield and MIS processing. This recombinant MIS protein also includes a tag to facilitate purification for research and therapeutic purposes. 

Title: Antisense Oligonucleotides to Restore Dysferlin mRNA and Protein Expression in Dysferlin-deficient Cells. UMMS14-41; Patent Pending.

  • This technology originates from identification of a deep intronic mutation in Dyferlin (DYSF) that alters mRNA splicing to include a mutant peptide fragment within a key DYSF domain. This new antisense oligo nucleotide(AON-)mediated exon-skipping to restore production of normal, full-length DYSF in patients' cells in vitro, offering therapeutic solution for patient with Dyferlin-associated maladies. 

Title: miRNA-mediated Transcriptional Detargeting to Reduce Transgene Immunity. UMMS14-22; Patent Pending.

  • This new AAV technology involves co-delivery of a transgene that minimizes immune responses against the transgene product of interest. Specifically, this process involves administering a rAA-harboring a transgene engineered to express an inhibitory RNA transcript that targets one or more immune- associated miRNA. This interaction lowers the immune response and consequently increases the potency of the therapeutic protein and its effects. 

Title: Cas9 Effector-mediated Regulation of Transcription and Differentiation in Human Pluripotent Stem Cells. UMMS14-12; Patent Pending.  

  • This invention provides novel methods of and systems for modifying the transcriptional regulation of stem or progenitor cells to promote their differentiation or reprogramming of somatic cells. Further, the labeling and editing of human genomic loci in live cells with three orthogonal CRISPR/Cas9 components allow multicolor detection of genomic loci with high spatial resolution, which provides an avenue for barcoding elements of the human genome in the living state. This technology provides a much needed system that can be used to promote differentiation of a stem, progenitor or precursor cell population and can be used in a directed approach to identify genes related to cell differentiation down desired lineage pathways. 

Title: Efficient Exosomal Loading Using Hydrophobically Modified Therapeutic Oligonucleotides. UMMS14-09; Patent Pending.

  • This novel invention discloses a novel RNAi delivery vehicle. Specifically, describing methods of loading exosomes with hydrophobically modified nucleic acids which exhibit a much higher loading efficiency than methods currently used (i.e. electroporation, transfection with cationic lipid reagents, and ultracentrifugation). 

Title: Method for Efficient Preparation of cDNA Libraries from Small RNAs. UMMS14-04; Patent Pending.

  • A novel method for generating cDNA libraries from unprecedented low quantities (e.g., pg and sub-pg range) of RNA is described herein. Using this method, cDNA libraries can be generated from a range of biofluids as well as from limited tissue volumes isolated from size-limited pathology specimens including biopsy tissue blocks, from small numbers of pure populations of cells isolated from laser capture microdissection of heterogeneous cell populations, and from small numbers of model-organisms. The methods can incorporate one or more novel components including (i) the reduction of gel purification steps, (ii) seamless transition between ligation and RT using sequential reactions in a single tube, and (iii) incorporation of biotinylated nucleotides in the RT reaction to permit efficient purification of cDNA prior to PCR.

Title: OmniPrep: An Optimized Method for Making Strand-specific Deep Sequencing Libraries from Diverse RNA Inputs and Small Sample Sizes. UMMS14-03; Patent Pending.

  • This invention provides novel methods for generating cDNA libraries that allow for reliable mapping of the 5′ and 3′ ends of transcripts as well as mapping, to a single nucleotide, the length of the poly(A) tail. This technology overcomes the limitations and biases present in current deep-sequencing platforms. 

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  • The present invention discloses a transcription activator-like effector-based strategy, termed “TALEColor”, for labeling specific repetitive DNA sequences in human chromosomes. TALEs were custom designed for human telomeric repeats and fused with any of numerous fluorescent proteins (FPs). TALE-telomere-FP fusion proteins were used to detect telomeric sequence in both living cells and fixed cells. Using human cells with different average telomere lengths, TALEColor signals correlated positively with telomere length. TALEs were also designed to detect centromeric sequences unique to specific chromosomes, enabling localization of these specific human chromosomes in live cells. These methods may have significant potential both for basic chromosome and genome research as well as in clinical applications.

Title: Genome-wide Mapping of 5' and 3' End Sequences as well as Poly(A) Tail Length of Capped Transcripts with Single-nucleotide Resolution Using High-throughput Sequencing. UMMS13-35; Patent Pending.  

  • This invention provides novel methods for generating cDNA libraries that allow for reliable mapping of the 5′ and 3′ ends of transcripts as well as mapping, to a single nucleotide, the length of the poly(A) tail. This technology overcomes the limitations and biases present in current deep-sequencing platforms. 

Title: MicroRNA Mediated Knockdown of SOD1 Using Recombinant Adeno-associated Vectors. UMMS13-19; Patent Pending. 

  • This invention discloses a novel miRNA delivered by rAAV for silencing SOD1 & C9orf72 SODl genes, which are associated with ALS. This method enables effective therapy at low doses with the persistence of rAAV episomes that continually expresses the nucleic acids, thus rendering re-treatment unnecessary. This method also minimizes rAAV exposure to non-CNS peripheral tissue.

Title: Peptide-modified Glucagon Particles for Delivery of Therapeutic Cargoes. UMMS13-05; Patent Pending. 

  • This technology embodies a novel delivery vehicle for RNAi, particularly amenable to therapeutic targeting of gut inflammatory cytokines via oral administration. The invention discloses amine conjugated glucan particles, extracted from yeast cell walls, for the delivery of nucleic acid cargoes.


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Title: Critical Amino Acid Residues Contribute to Crossing Vascular Barrier by AAV9 Vector. UMMS12-73; UMMS; Patent Pending. 

  • New rAAV vector technology desirable for gene therapy applications addressing muscular and lung disorders. A novel AAV9 capsid mutant produces local tissue-restricted expression and genome persistence, delivered by intravascular (IV), intramuscular (IM) and intranasal (IN) route. The therapy is effective while producing low levels of expression in liver.

Title: Zebrafish Fli1b Rabbit Polyclonal Antibody. UMMS12-60. 

  • Rabbit polyclonal antibody that recognizes the amino terminal half of zebrafish Fli 1b, and Ets family transcription factor.

Title: Zebrafish Etv2 Rabbit Polyclonal Antibody. UMMS12-59. 

  • Rabbit polyclonal antibody that recognizes the amino terminal half of zebrafish ETV2, a transcription factor that is essential for vascular development in all vertebrates. Etv2 is also knows as ER71, Etsrp, or Ets 1b protein.

Title: A Polyclonal Antibody that Recognizes the Zebrafish Homolog of Flt4 (zfFlt4). UMMS12-58.

  • Rabbit polyclonal antibody that recognizes zebra fish FLT4, also knows as vascular endothelial growth factor receptor-3 (VEGFR-3) is available for licensing.


  • This invention provides methods for isolating circulating small RNAs from plasma/urine, CSF, or tissue samples, the method comprising using an alkaline phenol:chloroform extraction, and methods of use thereof, including for the detection, prognosis, and/or monitoring of disease in a subject. These methods significantly increase the yield of many assayable small RNAs such as miRNA, some by tenfold or more over present standard methods.


  • The present invention provides silencing vectors that may be useful in "chromosome therapy" for Down syndrome or may be used as a research tool/system to investigate genomic expression changes and the cellular pathology of trisomy 21. This technology is based on the discovery that the imbalanced expression of hundreds of genes across an extra chromosome can be corrected in Down Syndrome patient stem cells by the targeted addition of one gene, XIST, in a specific location.

Title: Capseq - an Enzymatic Method to Enrich and Deep-seq Capped RNA. UMMS12-18; Patent Pending.

  • This invention discloses novel methods for the enzymatic enrichment and detection of RNA 5' ends that eliminates contaminating RNA sequences and dramatically enriches for RNAs that contain the nuclease resistant 5' cap structure.  The invention avoids the tedious and inefficient column purification procedure and can clone mRNA from as little as 500 ng. The cloned sequences are anchored at the 5' end of capped RNAs thus simplifying the bioinformatics analysis to compare samples.

Title: SRPX FOR TREATMENT OF CANCER. UMMS12-08; Patent 9,290,744.

  •  This technology provides compositions and methods of treatment for lung cancer. The invention is based on a discovery the tumor suppressor, SRPX is found at low levels of expression in solid human tumors compared to normal tissue. When SRPX is introduced at sufficient levels to tumor cells, SRPX can induce apoptosis and senescence to inhibit cellular proliferation. SRPX can easily be administered using the AAV gene therapy method and markedly suppresses lung cancer in mice.

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  • This invention uses a dual-specificity AAV vectors to correct Alpha 1-Antitrypsin (AAT) deficiency. This dual vector carries: 1) miRNAs that target and inhibit the expression of the mutant endogenous protein (AAT), and 2) gene for modified and functional AAT protein that is not targeted by the aforementioned miRNA.

Title: MUTANT LUCIFERASES. UMMS11-28; Patent 9,587,266

  • This technology provides novel mutant luciferases capable of efficient light emission with aminoluciferins that can be used to monitor gene expression in mammalian cells or perform bioluminescence imaging in whole organisms. This technology is based on the finding that the disclosed genetically-modified luciferases give higher light output in live mammalian cells than D-luciferin over a wide concentration range. 

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  • Newly designed multicistronic expression construct with efficient shRNA delivery. Hairpin RNAi expression cassette shown to specifically improve replication and packaging efficiency.

Title: Chimpanzee-Derived Novel Natural Variants of AAV9: Vector Development and Interrogation of Correlations Between Capsid Structure and Vector Biology. UMMS10-39; Patent Pending.

  • Novel method to isolate and characterize natural variants of AAV9. This new information allows for designing caspids with higher efficiency in packaging and tissue specificity.


  • New effective and safe gene therapy approach that allows gene delivery across the blood brain barrier (BBB) upon intravascular administration. Designed to minimize off-target effects by incorporation of non-CNS-tissue specific miRNA binding site into the transgene expression cassette.


  • Novel therapeutic to treat cholesterol-related disorders by recombinant adeno-associated (rAAV)-based gene therapy. Introduction of miR122-inhibitor transgene in the liver significantly reduces cholesterol levels up to 50% for at least 14 weeks in mice.


  • AAV10 vector-based gene therapy for treating ALS with enhanced tropism for neuronal cells. Administration of rAAV encoding inhibitory RNA for superoxide dismutase 1 (SOD1) distributes widely throughout CNS with low toxicity. Long-term inhibition of mutant SOD1 improves lifespan in the animal models.


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Title: AAV’S AND USES THEREOF. UMMS09-58; Patent  8,734,8099,284,357.

  • Novel AAVs with tissue targeting capability for application in therapeutic gene therapy and research purposes. With efficient delivery, these AAVs have minimal toxic effects on local tissues. They can also be used to develop somatic transgenic animals with a tissue specific promoter. Additionally, this invention includes composition and a method for isolating other novel AAVs. This technology can be used to express RNAi or RNAi sponge that inhibits one or more RNAi functions in a tissue.

Title: my5C Software. UMMS09-57; Patent Pending. 

  • My5c software is a publicly available computational tool that can be used for 5C-based chromosome structural studies. 5C is a powerful high-throughput method for analyzing chromosome folding. Researchers can upload data obtained from their experiments, either by sequencing or microarray. Using My5C, researchers can obtain a two-dimensional heat map of three-dimensional chromosome structure.


  • This invention discloses a method for studying mRNA sequences without disrupting transcript connectivity or relative abundance. Contrary to existing methods to study mRNA splicing, this method directly assesses the relative abundance of isoforms, with information regarding multiple ligases and mRNA exon connectivity. Improved understanding of isoforms may facilitate further study of developmental disease or cancer.


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Title: Isolation of Novel AAV Sequences from Tissue RNAs by Reverse Transcription (RT)-PCR. UMMS08-56; Patent Pending. 

  • This new innovation consists of improvements to the current gene therapy methods using adeno-associated virus. By confronting the issues associated with tissue specificity, the inventors have isolated novel capsid sequences from nonhuman primate tissue that harbor low levels of AAV. The invention discloses a novel method for isolating tissue specific AAV capsid sequences for high efficacy and tissue specificity of AAV that may be valuable in multiple contexts. 


  • The technology utilizes methods of implementing viral vectors harboring a transgene(s) in combination with tissue specific anti-miRNA sequences to minimize off-target effects. In addition, this method allows for production of somatic transgenic animal models by targeted destruction of specific cell types.


  • This invention provides a new protocol to describe long range physical interaction of genome loci within and between chromosomes. Long range regulatory elements in the genomes are known to interact. This interaction is important for genome biology, as it can control aspects of the genome, such as stability and dosage compensation. Contrary to the previous methods for describing long range genome interactions, Hi-C does not require prior understanding of one genomic loci, making it a truly genome wide characterization. This invention may reveal important aspects of genomic interaction in disease. 

Title: WFS1: A Master Negative Regulator of Endoplasmic Reticulum Stress Signaling and an Effective Inducer of Insulin-Producing Cells. UMMS08-40; Patent Pending.

  • This new discovery provides a potential therapeutic target for type 1 and 2 diabetes. WFS1 has been identified as a master regulator of the endoplasmic reticulum (ER) stress response pathway and helps maintain ER homeostatsis and consequently protection of beta cell insulin production. High levels of ER stress have been associated with premature death of pancreatic cells. Lentivirus-mediated WFS1 introduction has been developed to convert exocrine cells into insulin-producing cells in patients with type 1 and 2 diabetes. This innovation application may also prove to be beneficial to other diseases that arise from ER including neurodegenerative diseases.