Skip links

Ivana De Domenico | Research

The Research of Dr. Ivana De Domenico

Main navigation

Gene Therapy

Breakthroughs in Gene Therapy

by

Gene therapy is representing a significant shift in medicine and disease treatment. In 2017, gene therapy was approved by the Food and Drug Administration as an additional treatment plan for individuals in the U.S. Gene therapy allows doctors to go in and alter an individual’s DNA by removing bad genes and replacing them with healthy genes and can work towards curing certain diseases. Researchers are still working to help patients with rare, life-threatening conditions, but the following advancements in gene therapy treatments are helping shape the future of medicine.

Sickle-Cell
Caused by a single genetic mutation in the body, sickle-cell is an inherited blood disorder that affects people around the world. Scientists have found that removing bone marrow and then modifying them in a lab by adding large amounts of healthy genes to red blood cells to keep them from becoming “sickled.” Once the treated cells are infused back into the body, they can begin to make healthy blood cells. Early treatments have proven successful, but sickle-cell gene therapy is still experimental.

Cancer
The FDA has approved two treatments that could potentially change the way cancer is treated in patients. Known as CAR-T therapies, the treatment is created by extracting T cells from the patient and genetically altering them. The extracted cells are then infused back into the body and are genetically altered to go after and destroy any cancer carrying cells. While this has only been tested as a last resort when traditional treatments such as chemotherapy fail, patients have recovered and stayed in remission for months.

Hemophilia
Caused by a hereditary lack of a coagulation factor, individuals who suffer from hemophilia can significantly benefit from gene therapy treatments. Some clinical trials have shown that patients who received gene therapy had increased blood-clotting proteins that they lack because of hemophilia. While treatment takes longer than a year, patients who have gone through the clinical trial have shown that they have fewer bleeding issues and have had to receive fewer blood infusions to help with clotting.

While these treatments are still very new to the market, gene therapy will continue to evolve and one day replace most disease treatments.

More Advances In CRISPR: Curing Prenatal Disease In Mice

by

Studies and research continue to hit new milestones through CRISPR. CRISPR is a gene editing technique that, according to scientists, can cure and prevent countless diseases and disorders. Already, this tool has seen widespread success as well as controversy for its future implications in genetic manipulation. At the at Children’s Hospital of Philadelphia (CHOP), researchers have recently used CRISPR to prevent a deadly metabolic disorder in prenatal lab mice. Even though this study is still in the early stages and more research needs to be done, these same techniques can potentially be used on humans to prevent congenital diseases even before birth.

 

By using CRISPR-Cas9 and base editor 3 (BE3) gene editing, researchers were able to cut cholesterol levels in healthy mice treated in utero. They were able to do this by targeting a gene that regulates those levels and prenatal gene editing that improved liver function and prevented neonatal death. Scientists were able to successfully engineer the mice with a mutation that caused the lethal liver disease hereditary tyrosinemia type 1 (HT1). This means a lot for humans because HT1 is frequently found in infants. If initial treatment for HT1 fails, it can likely lead to cancer and liver failure. Addressing these diseases before they can affect quality of life is important for young patients.

 

The treatment is both simple and incredibly complex. The research procedure involves opening the uterus of a pregnant mouse, removing the fetus, and injecting CRISPR into the vitelline vein which connects to the liver. This ensures the CRISPR is going directly into the liver and nowhere else, so no other organs were affected. The mice involved in this research also did not show any side effects to the treatment. Precise targeting is part of what makes CRISPR such an enticing prospect for the medical field at large.

 

According to William H. Peranteau, the study’s co-leader and a pediatric and fetal surgeon in CHOP’s Center for Fetal Diagnosis and Treatment, the ultimate goal through this study is to intervene the disease and be able to treat it prenatally. These proof-of-concept studies will require a lot more research and testing of lab animals but show a lot of promise. If all goes well, human infants will no longer have to suffer from liver diseases.