Goal: Make gene editing the standard of care for the treatment of genetic disease
We believe that use of gene editing systems will become the standard of care for numerous diseases in the near future. The Innovative Genomics Foundation supports IGI’s mission to develop new gene-editing systems, new delivery systems to target those gene editors to the exact tissues in the body where they are needed, and to identify new and ground breaking approaches for many of the diseases that effect our human family.
Sickle Cell Disease
Victoria Gray with Jennifer Doudna. (Photo: Liberty Science Center)
Sickle cell disease is a genetic disease that affects nearly 100,000 Americans and millions more globally, disproportionately affecting people of African descent. People with sickle cell disease share a single-letter DNA mutation that causes red blood cells to become crescent-shaped, or "sickled." These distorted cells can block blood vessels, causing immense pain and poor oxygen transport through the body. In addition to chronic pain, complications include organ damage, strokes, and anemia — and it can be fatal.
Sickle cell disease is caused by a single mutation in the gene encoding hemoglobin, found in red blood cells that helps to carry oxygen to tissues of the body.
In 2019, doctors treated a young woman from Mississippi, Victoria Gray, with cells derived from her own bone marrow that had been engineered using CRISPR/Cas gene editing to turn back on the production of a type of hemoglobin made normally in human fetuses in utero that is shut off upon birth. This fetal hemoglobin can help take the place of the adult hemoglobin and resume delivering oxygen where needed. Ms. Gray was the first person in the United States to be treated therapeutically with cells corrected using a CRISPR editing system. In the winter of 2023, Ms. Gray was reported to be completely free of symptoms from her sickle cell disease — free of the debilitating fatigue and pain attacks that had been a part of her whole life.
Since the founding of the institute, IGI researchers have focused on areas of unmet need in medicine, particularly rare genetic diseases. There are over 7000 known genetic diseases caused by mutations in single genes affecting over 400 million people worldwide, and nearly all of them are lacking an effective treatment option. The CRISPR Cures Initiative’s goal is to scale the development of CRISPR-based therapies for rare disease to address the scope of the problem, rather than approach one disease at a time.
In 2024, the Innovative Genomics Institute announced a partnership with Danaher Corporation to accelerate the development of the CRISPR Cures Program. The Beacon for CRISPR Cures research team, led by IGI member Dr. Fyodor Urnov along with IGI’s Founder Dr. Jennifer Doudna and IGI Executive Director Dr. Brad Ringeisen, will initially focus on developing gene-editing therapies for two rare genetic “inborn errors of immunity” (IEIs), familial hemophagocytic lymphohistiocytosis (HLH) and Artemis-deficient severe combined immunodeficiency (ART-SCID), and taking these therapies to initial regulatory submission. These diseases are typical of many rare diseases in that they have small patient populations, making drug development challenging and cost-prohibitive, so they are often neglected by the pharmaceutical industry. These projects are being worked on by IGI members in collaboration with our colleagues at UCSF and UCLA.