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Identifying novel medical solutions

The identification of medications for the treatment of rare disorders can be challenging due to the limited understanding of the underlying genetic and molecular mechanisms of the disease. We have developed a step-by-step approach to identifying novel medical solutions and we will work with the child’s care team to implement our individualized plans.

Identify the specific genetic mutation responsible for the rare disorder. The specific mutation can be assessed for the impact it might have on the underlying phenotype, while also separating any secondary or tertiary effects due to the mutation.  

Identify molecules, often referred to as "hits," that have the potential to interact with the target and modulate its activity.

Hits can come from various sources, including natural compounds, existing drugs, or compounds synthesized in the lab.

Discuss the proposed medical intervention with all members of the patient's clinical team and prepare  informed consent and ethical treatment protocols  for review by caregivers and medial providers.

Identify a specific biological target that is associated with the disease or condition of interest. This could be a protein, enzyme, receptor, or other molecule involved in the disease pathway.

 

Validate the target by demonstrating its relevance to the disease through genetic, molecular, or biochemical studies.

Apply data analytic approaches to determine efficacy, toxicity and adverse events, evaluate the associated contraindications with use of the patient's current medications.

Identify biomarkers to assess treatment progress, ensure adverse events are reported, and treatment is evaluated by the medical team.

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