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Research
Tough Genes is actively driving research for a treatment for IRF2BPL-Related Disorder. Embarking on the path to research and discovering a treatment for rare genetic disorders involves a multifaceted and collaborative approach.
Drug Repurposing
Drug repurposing, also known as drug repositioning, is the process of finding new therapeutic uses for existing and available drugs.
Drug repurposing involves analyzing off-label uses of drugs where doctors prescribe them for conditions other than their approved indications, often leading to discoveries of new therapeutic effects. Overall, drug repurposing is a powerful and efficient strategy to expand the arsenal of available treatments and accelerate the delivery of effective therapies to patients. Drug repurposing is considered a cost-effective and time-saving strategy compared to developing new drugs from scratch.
3D Molecular Structure of the IRF2PBL Gene
Small Molecules
Small molecule therapy involves the use of low molecular weight compounds that can alter biological processes to treat disorders caused by genetic mutations.
These small molecules can perform different tasks, such as correcting the defective protein function, enhancing the expression of proteins, or inhibiting harmful functions activated by the mutant gene. The small size of these molecules allows them to penetrate cells easily, making them a versatile and powerful approach in the treatment of genetic disorders. By selectively targeting specific cellular pathways or proteins, these therapies aim to restore normal function or mitigate the effects of the genetic disorder.
Gene Therapy
Gene therapy is a technique that involves modifying genes within an individual's cells. The idea is to correct or replace defective genes responsible for disease development, introduce new genes to fight disease, or alter the expression of genes to improve health outcomes
Mechanisms of Gene Therapy:
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Gene Addition: Introducing a healthy copy of a gene to compensate for a defective or missing one. Often used when a functional gene needs to be added to compensate for a defective or missing gene.
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Gene Correction: Repairing a faulty gene by modifying its sequence to allow it to function normally.
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Gene Editing: Directly altering the DNA of specific genes to correct mutations. Technologies like CRISPR-Cas9 are often used for precise genome editing.
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Gene Silencing: Using techniques such as RNA interference (RNAi) to turn off or reduce the expression of a problematic gene.
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Gene Replacement: Replacing a defective gene with a healthy copy to restore normal function. This is especially relevant to genetic disorders caused by a single faulty gene.
​Gene therapy holds significant promise for treating a wide range of genetic disorders, particularly those such as IRF2BPL-Related Disorder which have no existing treatment.
Recent
Research
Publications
2024 Authors: Daniel Bauersachs, Louise Bomholtz, Sara del Rey Mateos, Ralf Kühn, Pawel Lisowski
2023 Authors: Dafne Dain Gandelman Horovitz, Maria Angelica de Faria Domingues de Lima, Lais de Carvalho Pires, Abelardo de Queiroz Campos Araujo, Fernando Regla Vargas
2022 Authors: Shrestha Sinha Ray, Debdeep Dutta, Cassandra Dennys, ..., Shibi Likhite, Paul C. Marcogliese, Kathrin C. Meyer
Participate in Research
Research is our best hope for advancing treatments and eventually finding a cure for IRF2BPL-Related Disorder. Tough Genes supports important research being conducted by scientists and doctors, and we encourage families to participate in this process as well.
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Patients and caregivers can participate in research by sharing information so that researchers can understand how IRF2BPL mutations affect individuals and their caregivers.