From treatment to cure.

The opportunity

A Port-Wine Stain is not simply a mark on the skin. It is the visible result of a genetic mutation affecting the normal development of blood vessels.

The mutation is somatic. This means it occurs during development and is present only in certain cells, rather than being inherited or present throughout the body.

In Sturge-Weber syndrome, the same underlying mutation can also affect blood vessels involving the brain and eyes.

Until relatively recently, medicine could only treat the consequences of that mutation. For PWS, that has largely meant treating the abnormal blood vessels with laser. Today, researchers can investigate something very different: whether the mutation itself can be corrected.

The research

Research led by Dr Anne Comi and collaborators at the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute is investigating gene editing as a potential treatment for Sturge-Weber syndrome and Port-Wine Stains.

The research has already produced promising early results.

In human cells carrying the GNAQ R183Q mutation associated with SWS, researchers have generated in-vitro data showing that the mutation is highly amenable to the gene-editing approach being developed.

The team has also developed a published mouse model carrying the R183Q GNAQ mutation. The model reproduces important features of SWS, including abnormal brain blood vessels, disruption of the blood–brain barrier and increased susceptibility to seizures.

Researchers can now use these models to test and compare different gene-editing approaches.

The next step

The next step is to determine which editing platform and construct offers the best potential treatment strategy — first in cells, and then in the SWS mouse model.

Approximately $100,000 in additional funding would allow the team to pursue and directly compare a second major gene-editing approach, expand laboratory capacity and continue the work needed to identify the strongest candidate for future development.

This is early-stage research. There is still significant work required to establish whether gene editing can ultimately become a safe and effective treatment for patients. We cannot promise a cure — nobody conducting responsible medical research can make that promise.

But this is no longer simply a theoretical idea. There is a known mutation. There are human cell and animal models. There are gene-editing approaches to test. And there is a research team working to move them forward.

The Last Laser Initiative wants to help give them the funding to do it.

Why now?

For generations, PWS was something medicine could only attempt to manage. Then scientists identified its genetic basis — at the same moment that gene-editing technology began advancing at extraordinary speed.

Those two developments have created an opportunity that simply didn't exist for previous generations of people living with PWS and SWS. Every experiment that establishes whether this approach works — or shows researchers what needs to change — moves the science forward.

A potential cure doesn't become a treatment simply because the science exists. Someone has to fund the experiments, the researchers, and the work required to determine whether it is safe and effective. We know what happens if promising research isn't funded: it doesn't get the opportunity to find out.

We want to give it that opportunity.