SDS & Science Snapshots (2023-12-09)

In this issue: Breaking news! First CRISPR-based therapy approved by the FDA for treatment of a genetic blood disorder - sickle cell disease - in humans.

Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email genetics@SDSAlliance.org or message us on Facebook! This is all for you!

FDA approves first gene-editing treatment for human illness

In a landmark decision, the Food and Drug Administration (FDA) approved the first gene-editing treatment based on the transformational new technology CRISPR to alleviate a human illness, namely sickle cell disease, which is a rare and severe blood disorder.

You can now find countless news reports on the topic. To start, we suggest reading this great summary by NPR.

What is CRISPR?

The Broad Institute offers this concise explanation:

CRISPR” (pronounced “crisper”) stands for Clustered Regularly Interspaced Short Palindromic Repeats, which are the hallmark of a bacterial defense system that forms the basis for CRISPR-Cas9 genome editing technology. In the field of genome engineering, the term “CRISPR” or “CRISPR-Cas9” is often used loosely to refer to the various CRISPR-Cas9 and -CPF1, (and other) systems that can be programmed to target specific stretches of genetic code and to edit DNA at precise locations, as well as for other purposes, such as for new diagnostic tools. With these systems, researchers can permanently modify genes in living cells and organisms and, in the future, may make it possible to correct mutations at precise locations in the human genome in order to treat genetic causes of disease.

Our website highlights some great videos explaining the concept.

Why does it matter to SDS?

Like sickle cell disease, SDS is a genetic blood disorder. Both diseases can be treated by a stem cell (or bone marrow) transplant, but because of the high risk and the need for a suitable donor, a transplant is not in reach for many who need urgent treatment.

That's where gene therapy comes in. The type of gene therapy highlighted here works by removing hematopoietic stem cells from the patient themselves, "fixing" the genetic problem, and then infusing the cells back into the patient. This process has several advantages over traditional stem cell transplants. 1. Patients don't depend on finding a matching donor, and 2. The risk of serious complications associated with an unrelated donor transplant (i.e., graft versus host disease GvHD) is reduced (or perhaps even eliminated). Patients still need to undergo arduous conditioning with chemotherapy to prepare the bone marrow to accept the new cells, but there have been significant advances in that area as well.

Of course, there are new risks that have to be evaluated, such as the risk of off-target effects. Researchers have to show that the gene editing procedure only fixes the intended gene sequence and doesn't alter any other sequence that could inadvertently lead to increased cancer risk or other unintended consequences. In the case of the newly approved therapy for sickle cell disease, the researchers were able to demonstrate that the therapy is SAFE and effective.

This matters for SDS in several ways. By going through the whole regulatory process of gaining FDA approval, researchers, drug developers, and the FDA now have more clarity on the regulatory pathway; There is now precedent on how to demonstate SAFETY. We believe this will greatly reduce the cost of developing this technology for other blood disorders, including SDS.

Several labs around the world are working on developing CRISPR-based therapies for SDS. Many technical challenges have yet to be overcome, but this approval by the FDA gives us tremendous hope that this could someday become a reality for SDS patients, too.

Check out the recording of our SDS POPS (Patient Advocacy and Partnering Summit) from last May for additional insights. More on this subject soon.