Rare Diseases - University of Pittsburgh

11 results

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4D Oxy-Wavelet MRI for Monitoring Mitochondrial Function

06288

University of Pittsburgh and Cedars-Sinai Medical Center scientists have developed a novel MRI (magnetic resonance imaging) method, 4D Oxy-wavelet MRI, to monitor mitochondrial function in live tissue (e.

Yijen Wu

Medical Device

Diagnostic Imaging

Neuroscience Endocrinology and Metabolic Diseases

Other Mitochondrial Disease

6Rare diseaseBiomarker Pediatrics

2023-02-13

Novel Therapeutic Target for Rare Neurological Disease

06177

A team of researchers from the University of Pittsburgh have identified the cause of a new neurological syndrome and a potential therapeutic target for its treatment.

Udai Pandey

Therapeutic Modality

Drug Discovery - Target

Neuroscience

Spinal muscular atrophy (SMA)Other

5Rare diseaseGene therapy Genetics

2022-10-05

Novel Treatment for Acidemias

06006

University of Pittsburgh researchers have developed a novel treatment for treating disease conditions that result from deficiency of succinyl-CoA including propionic acidemia and fatty acid disorders.

Al-Walid Mohsen

Therapeutic Modality

Small Molecule

Endocrinology and Metabolic Diseases

Other

Rare diseasePediatrics

2022-04-15

Human Antibodies Identified as Brain Cancer Immunotherapy Targets

05700

These human antibodies target the protein, protogenin, to reduce growth of medulloblastomas.

Medulloblastoma is one of the most prevalent forms of pediatric brain cancer, accounting for up to 20% of cases.

Rare diseaseAntibody Pediatrics

2021-05-25

Antioxidant Therapy for Treating Propionic and Methylmalonic Acidemia

05544

This antioxidant therapy reduces reactive oxygen levels in cells to treat propionic and methylmalonic acidemia.

Gerard Vockley

Therapeutic Modality

Small Molecule

Endocrinology and Metabolic Diseases

Other Mitochondrial Disease

Rare diseasePediatrics

2020-10-30

Novel Mouse Models of Rare Genetic Disorder

05539

University of Pittsburgh researchers have used the CRISPR technology to create a new mouse model for a rare, recessive metabolic disorder.

Michael Palladino

Life Science Research Tool

Animal Model

Endocrinology and Metabolic Diseases Rare Diseases

Rare disease

2020-10-21

Therapeutic Targets for TPI Deficiency

05520

Triosephosphate isomerase (TPI) deficiency is a rare, recessive metabolic disorder that causes hemolytic anemia, locomotor impairment, increased susceptibility to infection, progressive neurodegeneration, and muscle weakness that can affect lung and heart function.

4Orphan diseaseRare diseaseDrug discovery

2020-10-05

Immune Boost from a Tiny Fraction of a Cord Blood Transplant Graft

05418

Many inherited non-malignant disorders can be cured or alleviated in children by hematopoietic stem cell transplant (HSCT).

Paul Szabolcs

Therapeutic Modality

Cell Therapy - T Cell

Hematology

Rare diseaseCell therapy Pediatrics

2020-06-11

One-step Gene Therapy for Duchenne Muscular Dystrophy

04735

Duchenne Muscular Dystrophy (DMD) is one of the most frequent genetic diseases and affects one in 3,500 boys worldwide.

Bing Wang

Therapeutic Modality

Gene Therapy - AAV

Immunology Musculoskeletal

Inflammation - General Duchenne muscular dystrophy

Rare disease

2018-09-19

Novel carbamates as treatment for tinnitus

04567

University of Pittsburgh researchers have designed and synthesized novel carbamates to target the potassium channels (K-channels) in auditory synapses, a novel target for the treatment of tinnitus.

Peter Wipf

Therapeutic Modality

Small Molecule

Neuroscience Otolaryngology

Rare diseaseAging Small molecule

2018-03-27

Novel Treatment Strategy for Porphyria

04519

Porphyrias are metabolic disorders that are caused by alterations of enzymes involved in heme biosynthesis, leading to a buildup of porphyrins in the body.

Rare disease

2018-02-15