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Rare Diseases

Includes technologies from the rare disease space, including orphan- and ultra-rare-diseases.
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Therapeutic Modality
9 results
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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 therapyGenetics
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.
Dimiter Dimitrov
Therapeutic Modality
Antibody - mAb
Oncology
Brain cancer
Rare diseaseAntibodyPediatrics
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
OtherMitochondrial Disease
Rare diseasePediatrics
2020-10-30
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.
Michael Palladino
Therapeutic Modality
Small Molecule
Hematology
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 therapyPediatrics
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
ImmunologyMusculoskeletal
Inflammation - GeneralDuchenne 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
NeuroscienceOtolaryngology
Rare diseaseAgingSmall 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.
Satdarshan Monga
Therapeutic Modality
Gene Therapy - RNA
Hematology
Rare disease
2018-02-15