UPDATE on David Gamm’s USH1B Research Program

SSNEU is collaborating with breakthrough research on gene editing for USH1B that offers hope for patients

In a significant stride toward combating Usher Syndrome Type 1B (USH1B), and with the support of Save Sight Now Europe, renowned researcher David Gamm and his team have embarked on groundbreaking research utilizing gene editing techniques.

Gamm’s program recently conducted experiments involving 52 clones targeted with gene editing of the MYO7A gene, a crucial component associated with the condition. However, the initial attempts yielded no tangible results. Undeterred, the team is gearing up to receive new clones for testing within the next two months, employing a different approach that holds promise for success.

The forthcoming strategy involves editing high-level proteins analogous to choroideremia, a related eye disorder, while integrating a distinguishing tag. This method will primarily focus on native MYO7A, a well-understood variant with higher probability of efficacy.

Just days ago, the team submitted a proposal to the Foundation Fighting Blindness (FFB), outlining their continued exploration in this direction. Concurrently, efforts are underway to develop delivery mechanisms for MYO7A.

Recent guidelines from the Food and Drug Administration (FDA) have acknowledged the significance of testing over organoid stem cell models to gauge treatment effectiveness. However, while such tests are a crucial step, further validation through animal testing is imperative to ascertain dosage and overall viability.

The proposed research plan delineates three pivotal milestones. Firstly, the team aims to establish a tagline for discerning the timing and manner of MYO7A expression, utilizing both humanoid and animal models. Secondly, they seek to unravel the molecular interactions involving MYO7A within cellular contexts, crucial for understanding its functionality. Lastly, they intend to employ proximity ligation assays to probe MYO7A’s localization, binding partners, and efficacy, facilitating the identification of potential therapeutic targets and gene editing strategies.

The pursuit of these milestones signifies a concerted effort to advance precision medicine approaches for USH1B, offering renewed hope for individuals grappling with this debilitating condition. As research progresses, Gamm and his team remain committed to unraveling the complexities of USH1B and ushering in transformative treatments for those affected.

Stay tuned for further updates on this evolving research endeavor.

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