Gene Editing of Human Stem Cells
to Treat Rare Diseases

Gene editing is a promising approach to treating rare diseases caused by genetic mutations. The ability to modify specific genes in human stem cells has the potential to correct genetic defects and restore normal cellular function, offering hope to patients with previously untreatable conditions. In recent years, there have been significant advancements in the field of gene editing, and researchers are making progress in using this technology to treat a variety of rare diseases.

One example of the potential of gene editing is the case of sickle cell disease, a genetic disorder that affects the shape of red blood cells, causing them to become misshapen and leading to a range of complications. In 2019, researchers announced the results of a clinical trial in which they used CRISPR-Cas9 gene editing technology to edit stem cells from patients with sickle cell disease¹. The edited cells were then infused back into the patients, and the results showed a reduction in symptoms and an increase in normal hemoglobin levels.

Another example is the use of gene editing to treat a rare genetic disorder called X-linked severe combined immunodeficiency (X-SCID), also known as “bubble boy” disease. This disorder affects the immune system and leaves patients vulnerable to infections. In a landmark study in 2020, researchers used gene editing to correct the genetic mutation responsible for X-SCID in stem cells from patients². The edited cells were then infused into the patients, resulting in the restoration of immune function.

While these are just two examples, researchers are working on using gene editing to treat a variety of rare diseases. However, there are still challenges to overcome, including safety concerns and ethical considerations. It is important to ensure that gene editing is used responsibly and ethically, with appropriate oversight and regulation.

Despite these challenges, the potential benefits of gene editing for rare disease treatment are significant. Gene editing has the potential to transform the lives of patients with previously untreatable conditions, offering hope for a better future. As the technology continues to advance, it is likely that we will see more breakthroughs in this field in the coming years, bringing us closer to a world where rare diseases are a thing of the past.

1. Frangoul H, Altshuler D, Cappellini MD, Chen YS, Domm J, Eustace BK, et al. CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia. N Engl J Med. 2021;384(3):252-260. doi: 10.1056/NEJMoa2031054.
2. Mamcarz E, Zhou S, Lockey T, Abdelsamed H, Cross SJ, Kang G, et al. Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1. N Engl J Med. 2019;380(16):1525-1534. doi: 10.1056/NEJMoa1815408.

Avance Biosciences™ provides customized solutions for quantification of on/off-target gene editing including:

On-Target Gene Editing Quantification

We use IDT’s high-specificity rhAmpSeq™ amplicon sequencing system on an Illumina platform to get deep insights into your on-target editing efficiency. The sensitivity of our assays allows us to identify and characterize extremely rare variants.

Off-Target Gene Editing Analysis

Using bioinformatics, one can predict the number of potential off-target sites and design custom assays that can analyze hundreds of loci using a single rhAmpSeq™ panel. This allows you to quickly and accurately sequence multiple confirmed or putative edit sites. We can also take a genome-wide, unbiased approach with sophisticated sequencing techniques.

Avance now offers off-target NGS analysis using SeQure Dx’s GUIDE-seq technology

On-Target Gene Editing Analysis with ddPCR

For additional editing quantification at specific target sequences, ddPCR can provide ultra-sensitive detection of translocation events. We use Bio-Rad’s Q200 ddPCR platform to give you the most cost-effective and accurate assessment of translocation events that may occur during gene editing.