Awarded Grants

Awarded Grants

MDBR, NPC Million Dollar Bike Ride MDBR, NPC Million Dollar Bike Ride

Targeting the endocannabinoid system to treat epilepsy in Niemann Pick disease type C

Lola Ledesma

Centro Biologia Molecular Severo Ochoa

$40,140.00

Awardee: Lola Ledesma

Institution: Centro Biologia Molecular Severo Ochoa

Grant Amount: $40,140.00

Funding Period: February 1, 2024 - January 31, 2025

Summary:

Pharmacoresistent epilepsy is frequently found in NPC patients. This condition impact heavily in the quality of life of the patients and their families. Several studies have reported the ability of cannabinoids to reduce the frequency of seizures with a safe profile even in pediatric population. We have also shown the downregulation of the endocannabinoid system in the brain of an NPC mouse model and patient. We thus propose the enhancement of the endocannabinoid system as anti-epileptic treatment in the disease. We will assess the efficacy and safety of this strategy in a mouse model for NPC using oral administration of exogenous cannabinoids or of an inhibitor of the endocannabinoid degrading enzyme FAAH.

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MDBR, NPC Million Dollar Bike Ride MDBR, NPC Million Dollar Bike Ride

Leveraging proteostasis to improve Niemann-Pick C gene therapy

Mark Schultz

Regents of the University of Michigan

$50,010

Awardee: Mark Schultz

Institution: Regents of the University of Michigan

Grant Amount: $50,010

Funding Period: February 1, 2022 - January 31, 2023

Summary:

Niemann-Pick C is a genetically inherited disease caused by an abnormal accumulation of cholesterol. This cholesterol build-up commonly occurs due to a defect in a gene called NPC1. In Niemann-Pick C mouse models, adding back a fully functional NPC1 gene via gene therapy improves but does not fully correct the disease. Here we will leverage the information we have gained on protein folding to significantly increase the efficacy of Niemann-Pick C gene therapy.

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MDBR, NPC Million Dollar Bike Ride MDBR, NPC Million Dollar Bike Ride

Deciphering variants of unknown significance in Niemann Pick Type C

Evgueni Ivakine

Hospital for Sick Children

$47,630

Awardee: Evgueni Ivakine

Institution: Hospital for Sick Children

Award Amount: $47,630

Funding Period: February 1, 2021 - January 31, 2022

Summary:

As we enter an age where we understand more about genetic disease, we are beginning to regularly implement genome sequencing and personalized medicine in clinical practice. These efforts are hampered by a lack of knowledge about how mutations contribute to disease. This is particularly the case for diseases like Niemann-Pick disease type C (NPC), a rare genetic disease in which most patients present with a mutation that has not previously been reported. This leads to lengthy wait times between presentation and definitive diagnosis, as specialized laboratories are required to biochemically diagnose each potential patient. Through our work, we aim demonstrate a new method to quickly and easily create every possible mutation in each DNA base in a critical region of the the NPC1 gene using next-generation CRISPR-based gene editing technologies. Once we have generated a group of these mutant cells, we will perform a functional test to rapidly ascertain if each would likely lead to developing the disease or not. After identifying disease-causing mutations, we will apply a drug, currently undergoing clinical trials for NPC, to further classify the disease-causing mutations as responders or non-responders to this treatment.

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2014, NPC Million Dollar Bike Ride 2014, NPC Million Dollar Bike Ride

CNS gene therapy to restore NPC1 protein expression in cerebellar Purkinje cells and delay or prevent disease onset in feline Niemann-Pick type C1 (NPC1) disease.

Brittney Gurda

University of Pennsylvania, School of Veterinary Medicine

35,000

Awardee: Brittney Gurda

Institution: University of Pennsylvania, School of Veterinary Medicine

Award Amount: $35,000

Funding Period: January 1, 2015 - December 31, 2015

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