Research

By combining CRISPR knock-in with iPSC technology, researchers can model genetic diseases in the lab, opening new research paths for ultra-rare conditions like LMBRD2.

CRISPR has transformed genetic research by enabling precise DNA correction. A major breakthrough bringing new hope for rare genetic diseases such as LMBRD2.

A brief history: From discovery to Nobel Prize. In 2006, Japanese scientist Shinya Yamanaka made a breakthrough that would transform biomedical research. Working at Kyoto University with his student Kazutoshi Takahashi, Yamanaka showed that adult mouse cells could be reprogrammed back into an embryonic-like state by introducing just four genes—now called the "Yamanaka factors."

Introduction You now understand what ASO therapies are and how they work molecularly. This article answers the question families ask: "What needs to happen before an ASO treatment exists? And if it becomes available, what does it actually involve?" Based on Dr. Ziegler's presentation to LMBRD2 families, here are the facts. Why Families Fight for ASO Therapies Research Before discussing the challenges, let's be clear about why this matters: when ASO therapy works, it transform

To understand ASO therapy, you first need to grasp how our cells make proteins. It all starts in the nucleus with DNA, our permanent "recipe book." When a cell needs a protein, it doesn't read the DNA directly. It makes a temporary copy called messenger RNA (mRNA), like photocopying a recipe to take to the kitchen.

In recent years, ASO (antisense oligonucleotide) therapies have been transforming the landscape of rare genetic diseases. Several treatments have been approved and dozens more are in development. Although we don't yet know whether this approach will be applicable to the LMBRD2 gene, it's important to understand these advances and their implications.