Search Results - harry+dietz

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Unmet Need:Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connective tissue disorder. Patients with vEDS present with thin, translucent skin, easy bruising, and a characteristic facial appearance. Most critically, they are at risk for spontaneous rupture of the major arteries, hollow organs, and gravid uterus. Preclinical investigation of...

Published: 5/15/2026 | Inventor(s): Harry Dietz, Caitlin Bowen, Juan Calderon Giadrosic, Mark Helmers

Keywords(s):

Category(s): Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Research Tools, Technology Classifications > Research Tools > Animal Models

Col3a1G938D heterozygous mice

Published: 5/15/2026 | Inventor(s): Harry Dietz, Caitlin Bowen

Keywords(s):

Category(s): Clinical and Disease Specializations > Genetic Diseases, Technology Classifications, Technology Classifications > Research Tools, Technology Classifications > Research Tools > Animal Models

Loeys-Dietz Syndrome (LDS) Mouse Strains (Tgfbr2G357W/+ and Tgfbr1M318R/+)

Unmet Need:Loeys-Dietz Syndrome (LDS) is a rare genetic connective tissue disorder that is characterized by a high risk for aneurysm and dissection throughout the arterial tree and phenotypically resembles Marfan Syndrome. Marfan Syndrome and related disorders, such as LDS, have an incidence of 1 in 3000 to 5000 individuals (see UpToDate). LDS is specifically...

Published: 5/15/2026 | Inventor(s): Harry Dietz, Elena MacFarlane, David Loch

Keywords(s):

Category(s): Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Research Tools, Technology Classifications > Research Tools > Animal Models

Epigenetic Therapy Against Distal Regulatory Element of TGFB2 Expression

Unmet NeedScleroderma disorders comprise a heterogeneous group of conditions linked by the presence of thickened, sclerotic skin lesions. These conditions result in a poor quality of life and have a poor prognostic outcome. In particular, systemic sclerosis (SSc) has a 10 year mortality rate of approximately 30%. However, the pathogenic mechanisms of...

Published: 5/15/2026 | Inventor(s): Harry Dietz, Joseph Shin

Keywords(s): Biomarker, Clinical Diagnostics, Diagnostic Biomarker, Disease Indication, Fibrosis Disorders, In Vitro Diagnostics, Prognostic Biomarker, Therapeutics

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Fibrosis, Technology Classifications > Diagnostics > Biomarkers, Technology Classifications > Diagnostics > Diagnostic Biomarkers, Technology Classifications > Diagnostics > In Vitro Diagnostics, Technology Classifications > Diagnostics > Prognostics Biomarkers, Technology Classifications > Therapeutic Modalities, Technology Classifications > Diagnostics

Conditional mouse model of pseudoxanthoma elasticum (PXE); floxed Abcc6 allele

ABSTRACTUsing ES-cells, JHU researchers generated a PXE conditional mouse model (floxed Abcc6 allele). When bred to a CMV-cre mouse, this mouse develops robust calcification in the vibrissae (snout of the mouse). They use this mouse model to test drugs that will inhibit calcification in vivo. While PXE is a rare genetic condition, the researchers believe...

Published: 5/15/2026 | Inventor(s): Harry Dietz, Shira Ziegler

Keywords(s): Basic Research Biomarker, Cardiovascular Diseases, Cell Lines, Discovery/Research Tools, Disease Indication, In Vitro Research Tool, In Vivo Research Tool, Knock In Mouse Model, Mouse Cell Lines, Mouse Model

Category(s): Technology Classifications > Research Tools > Animal Models, Technology Classifications > Research Tools > Cell Lines, Technology Classifications > Research Tools, Clinical and Disease Specializations > Cardiovascular

Fibrillin 1 Mutant Mice (W1572C Mutant Strain) and (D1545E Mutant Strain)

TITLE: Fibrillin 1 Mutant Mice (W1572C Mutant strain) and (D1545E Mutant Strain)CASE NUMBER: C13499ABSTRACTFibrillin1 D1545E Mutant StrainThese mice carry a D1545E mutation in the mouse Fbn1 gene and serve as a model of human stiff skin syndrome with increased collagen deposition in the dermis, decreased subcutaneous fat, and circulating anti-nuclear...

Published: 5/15/2026 | Inventor(s): Harry Dietz, Elizabeth Gerber

Keywords(s): Basic Research Biomarker, Cell Lines, Discovery/Research Tools, Disease Indication, In Vitro Research Tool, In Vivo Research Tool, Knock In Mouse Model, Mouse Cell Lines, Mouse Model, Skin Disorders, Translational Research Biomarker

A Ketogenic Diet Rescues Neurogenesis Defects in a Mouse Model of Kabuki Syndrome

TITLE: A Ketogenic Diet Rescues Neurogenesis Defects in a Mouse Model of Kabuki SyndromeCASE NUMBER: C13532UNMET NEEDKabuki syndrome (KS) is a rare genetic disease resulting in intellectual disability, seen in association with postnatal growth retardation, immunological dysfunction and characteristic facial features. Currently, there are...

Published: 5/15/2026 | Inventor(s): Hans Bjornsson, Joel Benjamin, Harry Dietz

Keywords(s): Discovery/Research Tools, In Vivo Research Tool, Mouse Model

Category(s): Technology Classifications > Research Tools > Animal Models, Technology Classifications > Research Tools

Histone Reporter Alleles: Tools for in vitro and in vivo Epigenetic Therapeutic Development - Treatment Method

METHODS FOR TREATING MENDELIAN DISORDERS OF THE EPIGENETICMACHINERYJHU REF: C13083Invention novelty: A genetically encoded histone reporter allele system which can be utilized for high throughput screening in in vitro cellular systems.Value Proposition: Epigenetic modifications are thought to be one of the critical mechanisms that mediate gene-environment...

Published: 5/15/2026 | Inventor(s): Harry Dietz, Hans Bjornsson

Keywords(s): Basic Research Biomarker, Biomarker, Clinical Diagnostics, Discovery/Research Tools, Disease Indication, Epigenetic, Genetic Disorders, In Vitro Diagnostics (Old), In Vitro Research Tool, In Vivo Research Tool, Mouse Model, Mouse Model Xenograft, Target-based Screening Tool

Category(s): Technology Classifications > Research Tools > Animal Models, Technology Classifications > Research Tools, Technology Classifications > Research Tools > Assays, Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Diagnostics > Biomarkers

Enabling technology for epigenetic drug development

Invention novelty: This invention describes an improved histone reporter system that enables epigenetic therapeutic development in cell-based assays and potential therapeutic monitoring in animal models.Value PropositionIt is now widely appreciated that most human diseases are contributed by interplay of genetic and epigenetic factors. Understanding...

Published: 5/15/2026 | Inventor(s): Harry Dietz, Hans Bjornsson

Keywords(s): Basic Research Biomarker, Biomarker, Clinical Diagnostics, Cloning Reagents, Discovery/Research Tools, Epigenetic, In Vitro Diagnostics, In Vitro Diagnostics (Old), In Vitro Research Tool, Nucleotide, Research Reagent, Target-based Screening Tool

Category(s): Technology Classifications > Research Tools > Nucleic Acids, Technology Classifications > Research Tools, Technology Classifications > Research Tools > Assays, Technology Classifications > Diagnostics > Biomarkers

Transgenic mouse B6. CG-TG (ACTB-UPF1*R844C) 581Hed/J

C11680: Transgenic Mouse Line with Mutated Rent1/UFP1 GeneNovelty: A transgenic mouse strain with deactivated Nonsense-Mediated Decay (NMD) pathway by the expression of mutated Regulator of Nonsense Transcript (Rent1)/UFP1 protein.Value Proposition: The wild-type protein Rent1/UFP1 acts as a trans-effector of the cellular surveillance mechanism called...

Published: 5/15/2026 | Inventor(s): Pamela Frischmeyer Guerrerio, Harry Dietz

Keywords(s): Basic Research Biomarker, Discovery/Research Tools, In Vivo Research Tool, Mouse Model, Mouse Model Xenograft

Category(s): Technology Classifications > Research Tools > Animal Models, Technology Classifications > Research Tools

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