The Roots and Rise of Cell and Gene Therapy


Pharmaceutical Executive

Pharmaceutical ExecutivePharmaceutical Executive-02-01-2020
Volume 40
Issue 2

Continued investment will mean new cures in a new decade.

As a new decade begins, promising research and treatments using cell and gene therapies are significantly improving or saving the lives of patients suffering from rare diseases. These new treatments and even cures are where science is now headed, but it will take continued investment to ensure the future.

The Greater Philadelphia region is a hotbed of cell and gene therapy and connected health and we have had a front-row seat acting as catalysts for continued success. The early chapters of cell and gene therapy’s history were written in laboratories in Philadelphia. In the 1990s, scientists at the University of Pennsylvania began to study how to manipulate the body’s immune system to recognize and destroy specific types of cancer cells. Using gene therapy methods, they also developed successful approaches to replace missing or mutated genes as a way to cure or treat debilitating-or even fatal-diseases.

Several doctors working at Children’s Hospital of Philadelphia and Penn discovered that mutations of the RPE65 gene, present in patients with leber congenital amaurosis (LCA) or retinitis pigmentosa (RP), could be treatable through a one-time gene therapy injection. Mutations in the RPE65 gene are rare. In LCA, for example, which is present in two to three out of every 100,000 newborns, mutations in the RPE65 gene occur in only 8% to 16% of patients. The aim of the gene replacement therapy is to transport a copy of a functional gene into the patient’s retina. In late 2017, FDA approved the therapy, called Luxturna, as the first gene therapy for a genetic disease in the US.

In the cancer field, another research team discovered that the body’s own immune system could be engineered to treat certain blood cancers by removing patients’ own immune cells and reprogramming them to seek and destroy their tumor cells. In record time, these discoveries were translated into the first FDA-approved personalized cellular therapy for cancer in May 2018, now known as Kymriah. One year later, in May 2019, FDA approved another transformative gene therapy to treat the rare disease spinal muscular atrophy (SMA), which claims the lives of small children.

While these recent success stories are phenomenal discoveries in their own right, there are many more researchers and companies that are striving toward cures and treatments for other widespread and rare diseases. Studies are underway to apply these same techniques-harnessing the power of the body’s very own cells-to fight more common forms of cancer, like prostate cancer, as well as autoimmune diseases. In fact, former FDA Commissioner Scott Gottlieb projected at the 2018 BIO International Convention that FDA will approve 40 gene therapies alone by 2022.

It is the investment of government, industry, and academia in breakthrough research that will ensure a clear future for this work. The first approved therapies relied on visionary private philanthropists and institutions. Those early investments paid off and captured international headlines. Researchers quickly began reporting unprecedented success treating patients who had run out of options and were destined to die of their diseases. These investments are down payments on the future and pave the way for lower, long-term healthcare costs by reducing the need for long-term chronic disease treatments for rare disease patients.

As biopharmaceutical companies of all sizes know, scientific progress and clinical breakthroughs require years of innovation, hard work, and rigorous study. While we have seen the pace of innovation quicken, we must also realize that patience and a shared vision will be critical for even greater success.

Cell and gene therapy is where medical science is headed, and we can all take great pride in each new treatment for a rare disease while continuing our search for future cures.


Editor’s note: The Chamber of Commerce for Greater Philadelphia, through its CEO Council for Growth and Select Greater Philadelphia Council, has launched the Cell & Gene Therapy and Connected Health Initiative-a collaboration between companies, institutions, and universities in Southeastern Pennsylvania, Southern New Jersey, and Northern Delaware to build awareness for the region’s leadership role in cell and gene therapy, gene editing, and connected health research, commercialization, and treatment.


Claire Marrazzo Greenwood
is Executive Director, CEO Council for Growth; Matt Cabrey is Executive Director, Select Greater Philadelphia Council


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