Developing a Treatment

On 6/29/22, the HOPE for Harvey Foundation signed a contract with Everlum Bio, a rare disease lab who believes that everyone deserves a cure, no matter how big or small the disease. Everlum Bio is based in Austin, TX, and we are excited to partner with them on creating a treatment for DLG4-related Synaptopathy, focusing on ASOs and small molecule screening.

On 3/16/23, HOPE for Harvey signed an additional contract with Hebrew University of Jerusalem and Rami Aqeilan's lab in collaboration with the SHINE Foundation to support the research and development of a virus-based gene replacement therapy called an AAV.

Treatment Pathway

We are currently working on these specific pre-clinical development tasks with funds from this GoFundMe Campaign and HOPE for Harvey Foundation Fundraising Efforts:

Induced Pluripotent Stem Cells (iPSC) derived neurons ( 3 lines including Harvey's mutation and controls-$33,750)-have patient derived line completed, currently working on controls
Commercial Line for Quality Control (3 lines at $33,750)-completed
Neuronal Differentiation ($14,000)
Assay Development and Test for Gain or Loss of Function of PSD-95 for Harvey's mutation ($15,000)
RNA Long Read Sequencing for treatment attack spots ($11,500)-in process almost completed
Testing drug library of 7,000 small molecules for improvement in Harvey’s neurons and protein functioning ($104,375)
Mouse Models (currently have two grant applications being reviewed for a Harvey missense mouse and a nonsense DLG4 comparison model)
50 Allele-specific Antisense Oligonucleotide (ASO) design and screening ($50,250)
Project Management Fee ($36,000)
AAV development at Hebrew University-HOPE for Harvey's responsibility ($44,250)
FDA Approval for Clinical Trial (will apply for grant assistance once we have quality pre-clinical data)

Francis Collins Urges Gene Therapy Community to Scale Efforts to Tackle Rare Diseases

"Collins concluded by thanking his audience while urging them to do more. 'Of nearly 7,000 genetic disorders, only 500–600 have an FDA-approved therapy,' he said. The goal is to develop therapies for the thousands of disorders for which patients and their families are still waiting in vain."

Read article in Genetic Engineering & Biotechnology News

Rare recessive mutations pry open new windows on autism

"After excluding genetic variants that were also found in the control group and in a separate large cohort of more than 60,000 individuals without autism, Doan, Yu and colleagues were left with 41 genes that were knocked out only in individuals with autism. Overall, the researchers estimate that these genes explain another 3 to 5 percent of all cases of autism (2 percent from loss-of-function mutations, and 1 to 3 percent from missense mutations)."

Read article in EurekaAlert!

Developing a Treatment

Treatment Pathway

AAV Researcher, Rami Aqeilan

Research

Francis Collins Urges Gene Therapy Community to Scale Efforts to Tackle Rare Diseases

Rare recessive mutations pry open new windows on autism

Developing a Treatment

Treatment Pathway

AAV Researcher, Rami Aqeilan

Research

Francis Collins Urges Gene Therapy Community to Scale Efforts to Tackle Rare Diseases

Rare recessive mutations pry open new windows on autism

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