Illustration of scientists examining genes and DNA



This is the present – and promise – of gene therapy. But gene-based therapy opens even more possibilities, and almost unlimited potential, beyond rare genetic disorders.

“这是一个新的边疆,”罗氏制药合作统一团的全球负责人James Sabry说。bob综合坑人“在很多方面,局限性只是科学家可以想到的,这真的是罗氏和我们当前和未来的合作伙伴之间的合作价值。”

This mindset led to the acquisition of Spark Therapeutics, the Philadelphia-based gene therapy center of excellence within Roche.

“Imagine a world where no life is limited by genetic disease and the ambition of gene therapy to treat or possibly prevent disease is realized for the millions of people living with an inherited condition,” says Jeff Marrazzo, CEO and co-founder of Spark Therapeutics. “By addressing some diseases at a genetic level, entire lives, families and our global healthcare system could be transformed by unlocking the full potential of gene therapy.”


First, a bit about genes

To understand gene therapy, we should start with genes. Cells are the basic units of life, and each cell contains a full set of instructions, or genes. Each gene encodes for a different protein, or the “business ends” of the cell and the regulatory instructions of when to use this gene. Cells in our body are different, and each cell uses only some of the genes based on its needs – immune cells will need genes for proteins like antibodies to fight off infections, brain cells will need the genes that encode neurotransmitters, and so on.

但有时我们的基因有故障代码,either one that we inherit from our parents at birth, or one that arises within our own bodies over time, and that can cause disease, because the cells cannot work properly. In some inherited cases, the error is major, and will cause a severe disease like haemophilia or Huntington’s disease. In other cases, the differences we inherit are part of the natural variation between humans, but can increase our risk of common diseases, like heart disease or type 2 diabetes. But genes can also mutate during our lifetime, especially due to errors accrued over the lifespan, resulting in illnesses, especially cancer.

In the future, instead of a series of traditional medical treatments that only manage some diseases – or a lifetime of injections, infusions, monitoring, adjustments and ongoing doctor appointments – patients might instead receive gene therapy treatment to fix that glitch.

Learn more about genes and gene therapy in this video

How do genes in our cells instruct the body to work? Imagine our genes as “recipes” in a cookbook. Learn more!

A tough trail ahead

While the prospects of gene therapy are awe-inspiring, it won’t be easy or instantaneous. Before we ride off into a sunset with great therapies for genetic disease, there are challenges to overcome. Some aspects of the science behind gene therapy are uncharted; there will be stumbles, disappointments and setbacks.

Even when solutions are found in a laboratory, in the form of novel vectors or “messengers” that carry new genetic instructions to block, take down or take over for malfunctioning ones, those breakthroughs must then be meticulously translated to humans and into large-scale production processes that can repeatedly and reliably produce the same medicines in manufacturing facilities.

In some cases, the future is now. In 2019 Spark Therapeutics, located in Philadelphia, became the gene therapy center of excellence within Roche. The Roche Group’s bold commitment to gene therapy collaborations across the organisation and industry are a stake in the ground: the possibility and potential of using genes to treat or prevent disease now and in the future is one clear path to where the Roche Group and healthcare are headed.

We envision a world where no life is limited by genetic disease, and reaching that point requires us to unlock the full potential of gene therapy.
Jeff MarrazzoCEO Spark Therapeutics.

Oftentimes, the many remaining challenges can be solved by bringing together different scientists and approaches in a partnership. For example, Roche entered into two collaborations in 2020 that focus on solving two parts of the puzzle. Roche and Spark Therapeutics are working with Dyno Therapeutics to engineer optimised viral capsids (think of tiny packages that protect, transport and deliver genetic solutions,) with the help of machine learning applied to biology. And a partnership with CEVEC Pharmaceuticals will leverage their expertise in high-performance viral vector production. Viral vectors are tools that deliver genetic material into cells, and this partnership could enable large-scale biopharmaceutical manufacturing of those vectors.

Making our vision a reality

“I believe that within 20 or 30 years from now, gene therapy will represent the most important class of pioneering medicines in our industry,” James says. “The reason for that is clear: if you can go in and do genetic surgery – by removing malfunctioning or abnormally regulated genes and replacing them with genes that are normally regulated – then you can get to the basis of what causes disease and fix it. It's version 1.0 right now for gene therapy, but we're very excited about the future, and our partnership with trailblazing companies like Spark make this vision a reality.”

罗氏临床 - 试验黑色
If you can go in and do genetic surgery – by removing malfunctioning or abnormally regulated genes and replacing them with genes that are normally regulated – then you can get to the basis of what causes disease and fix it.
James SabryGlobal Head of Roche Pharma Partnering

Already today, there is initial evidence that gene therapy could change the lives of patients with certain diseases by introducing a working gene to step in and do the job of a malfunctioning one. But in versions 2.0 or 3.0, gene therapy would involve taking out one gene and replacing it with another, like surgery at a genetic level, or by adding a new gene to produce a protein that is therapeutic, like a vectorised antibody medicine against a target that causes disease.

Spark Therapeutics是美国第一家公司,以推动基因治疗,以其强大的研究,商业和制造能力支持。bob下载地址经过一个长长的求爱,罗氏和火花对齐他们的futures. After the December 2019 acquisition, Spark remains autonomous in Philadelphia, helmed by Jeff, who co-founded the company eight years ago. Chief Scientific Officer Federico Mingozzi leads further discovery and pre-clinical development of novel gene therapies.

Ultimately, the future of medicine will be a combination of complementary approaches, Federico says, including small molecules, large molecules, and programmable therapies that include gene therapy, cell therapy, bacterial therapies and RNA-based therapies. Spark Therapeutics is an integral part of that within Roche.


A glimpse of the future

Our scientists share their vision and hope for the unlimited possibilities and potential of gene therapy

How gene therapy can help

Today’s healthcare uses traditional drugs that target proteins to manage or treat disease. But gene therapy impacts the genes that code the proteins, and in this way uses genes to treat or someday even prevent disease.

Genes can be delivered to cells in different ways. From the beginning, Spark Therapeutics has focused on adeno-associated virus (AAV) vectors, which are derived from a virus found in nature. Viral vectors harness the innate ability of a virus to enter cells, carrying the therapeutic gene with them. AAVs are an attractive option as a “messenger” to deliver genes, as they are considered safe, stable and keep cells intact.


“潜在地,基因治疗允许我们做什么,是使用人体,作为我们自己的专业生物致法 - 也就是说,我们可以使用编程基因来生产蛋白质和抗体治疗慢性疾病的治疗,”Sylke Poehling,Senir说副总统,全球头,治疗方式,罗氏制药研究和早期发展。bob下载地址“这些是我们正在考虑我们如何聚集在一起的方式来补充和推动我们目前正在做的界限。”


Prevention as an investment

Beyond the push toward next-level science, pioneering medicines also require a shift in mindset, in terms of costs, to move from reactive healthcare solutions to a proactive one, like gene therapy. Most health systems today diagnose and treat patients in later stages of disease and are built on treatments for chronic conditions.

“This happens if you have a coronary artery bypass graft, or have your appendix removed via surgery, but in the future it will be genetic surgery and it can happen earlier,” says William Pao, Global Head, Roche Pharma Research & Early Development. “That expands what we think of as a drug, and has huge implications for the healthcare system in terms of ease of use and access to the therapy, and also in terms of economics of the therapy.”

The cost of healthcare – not only financial but also in quality of life for the patient – is traditionally borne over years (sometimes decades) of treatments or anatomic surgery. Gene therapy can potentially flip that script, putting the cost of diagnosis, cure or prevention up-front, as an investment in fewer chronic diseases and better quality of life in the future. This will require collaboration with health systems across the globe to allow for innovative payment models that ensure the promising science of gene therapy can ultimately reach patients.

"We envision a world where no life is limited by genetic disease, and reaching that point requires us to unlock the full potential of gene therapy,” Jeff says.

“To do that, we're exploring ways to broaden our current pipeline, which is focused on monogenic diseases – diseases caused by a variation in a single gene – and on three main target tissues: the eye, the liver and the central nervous system,” Federico says.



通过综合基因治疗平台,Spark Therapeutics是一个完全综合的商业公司,可用于将基因转化为遗传疾病的患者,包括视网膜疾病和肝脏导向疾病,例如血友病和溶酶体储存障碍,以及使用腺相关病毒载体的神经变性疾病。bob投注平台Spark在临床试验中有四个方案,并正在为遗传疾病产生没有生命的世界的道路。

Pioneering partnerships

满足我们的一些合作伙伴分享我们的愿景transforming healthcare through gene therapy.

Hands in a laboratory, measuring into vials.

CEVEC Pharmaceuticals:A leading provider of high-performance cell technology for the manufacturing of advanced biotherapeutics from R&D to manufacturing scale.
Dyno Therapeutics:Using artificial intelligence to engineer next-generation adeno-associated virus vectors, and partnering across Roche and Spark to allow development of gene therapy for larger patient populations.
Sarepta Therapeutics:A global biotechnology company, partnering with Roche on an urgent mission: to engineer precision genetic medicine for rare diseases that devastate lives and cut futures short, including Duchenne muscular dystrophy.

Be part of the future

Roche致力于推动突破性的科学和技术进步,有可能改变全球患者的生命。bob投注平台但我们can’t do it alone. Learn why we are the No. 1 partner of choice, and what we look for in our partners and ourareas of interest那including reduction/elimination of immunogenicity, cell-specific promoters, circuits for cell-specific expression, gene regulation technologies, non-viral delivery, and gene therapy assets, especially in neuroscience, ophthalmology and rare diseases.