Future cures are in our genes

Imagine a world where rare or inherited genetic disorders could be cured or prevented by precisely targeting the root causes. Rather than just treating blood disorders, retinal diseases, neuromuscular and other diseases, we would eliminate them.


“It’s a new frontier,” says James Sabry, Global Head of Roche Pharma Partnering. “In many ways, the limitations are only what scientists can think of, and that’s really where the value of collaboration across Roche and with our current and future partners comes in.”

这种心态导致了Roche中基于费城的卓越基因疗法中心Spark Therapeutics的收购。乐动-网站

“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.”

The next generation of pioneering medicines, with gene therapy front and centre, is blazing a path towards truly personalised global healthcare. It’s a proactive approach, strengthened by partnering and collaboration, that seeks better healthcare at a lower cost to society.


要了解基因疗法,我们应该从基因开始。细胞是生命的基本单元,每个细胞都包含一套完整的指令或基因。每个基因均编码不同的蛋白质,或细胞的“业务结束”以及何时使用该基因的调节说明。我们体内的细胞是不同的,每个细胞仅根据其需求使用一些基因 - 免疫细胞将需要抗体等蛋白质的基因来抵抗感染,脑细胞将需要编码神经递质的基因,等等。

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.



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


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.


在某些情况下,现在的未来是。2019年,位于费城的Spark Therapeutics成为Roche内的卓越基因疗法中心。乐动-网站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.

杰夫·马拉佐(Jeff Marrazzo)CEO 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.


詹姆斯说:“我相信,从现在开始的20或30年之内,基因疗法将代表我们行业中最重要的开创性药物。”“这样做的原因很明确:如果您可以进行遗传手术 -​​ 通过去除或异常调节的基因并用通常受调节的基因代替它们,那么您就可以取决于引起疾病的原因并解决该基因。现在是基因疗法的1.0版,但是我们对未来感到非常兴奋,我们与Spark等开拓公司的合作伙伴关系使这一愿景成为现实。”

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 SabryRoche Pharma合作的乐动-网站全球负责人


Spark Therapeutics was the first company in the U.S. to launch a gene therapy, backed by its robust research, commercial and manufacturing capabilities. After a long courtship, Roche and Spark aligned their期货。在2019年12月收购之后,Spark仍然在费城自治,由杰夫(Jeff)主持,后者八年前与该公司共同创立了该公司。首席科学官Federico Mingozzi领导了新型基因疗法的进一步发现和临床前开发。

最终,医学的未来将是补充方法的结合,费德里科说,包括小分子,大分子和可编程疗法,包括基因疗法,细胞疗法,细菌疗法和基于RNA的疗法。Spark Therapeutics是Roche内部不可或缺的一部分。乐动-网站

“There was enormous excitement in the company after the acquisition,” Federico says. “We're still working hard to develop gene therapies, but we are also collaborating more and more with our colleagues across Roche. This is fantastic, because it creates novel opportunities to develop life-changing medicines. Combining capabilities is a great way to speed up the development of new therapies to bring to patients. That's the part of my job that I love, and that is what brings me to work every day.”




Spark Therapeutics首席科学官Federico Mingozzi

“The life-changing goal with gene therapies is to create a single therapeutic intervention that is curative. That is absolutely transformative when it comes to the potential impact on the lives of patients. Emerging data on the long-term safety and efficacy of gene therapy patients is promising, as it shows that it is possible to achieve a durable effect over time. The potential of curing and preventing disease, versus treating or maintenance, is our passion and what drives us forward.”

How gene therapy can help


基因可以以不同的方式传递到细胞。从一开始,Spark Therapeutics就集中在与腺相关的病毒(AAV)载体上,这些病毒是从自然界中发现的病毒中得出的。病毒载体可以利用病毒进入细胞的先天能力,并随身携带治疗基因。AAV是一种吸引人的选择,作为传递基因的“使者”,因为它们被认为是安全,稳定并保持细胞完整的。

有一天,基因疗法可能成为使用人体本身作为我们设计的治疗蛋白的制造部位的常见方法。Instead of companies like Roche manufacturing proteins in a large-scale, high-tech production plant, protein therapies would go hyper-local and could be “manufactured” in your liver, for instance, or in the glial cells in your brain.

“What gene therapy allows us to do, potentially, is to use the human body, as our own specialised biofactory – that is, we can use programmed genes for the production of protein and antibody treatments against chronic diseases,” says Sylke Poehling, Senior Vice President, Global Head, Therapeutic Modalities, Roche Pharma Research & Early Development. “These are the ways we're thinking about how we can all come together to complement and push the boundaries of what we're currently doing.”

Future cures are in our genes



“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.


“为此,我们正在探索扩大当前管道的方法,该管道集中在单基因疾病上 - 由单个基因的变异引起的疾病以及三个主要靶向组织:眼睛,肝脏和中枢神经系统,”费德里科说。

The goal for the future? Expansion not only to other therapeutic areas, but also to more complex diseases, where multiple genes each contribute a small portion of risk, based on variants common in the human population. The bottom line, Federico says, is to bring more gene therapies to more patients to transform clinical outcomes, and ultimately transform healthcare for the better.

Gene therapy center of excellence

Through an integrated gene therapy platform,Spark Therapeutics是一个完全集成,商业公司,磨破ks to turn genes into medicines for patients with inherited diseases, including retinal diseases and liver-directed diseases such as hemophilia and lysosomal storage disorders, and neurodegenerative diseases, using adeno-associated viral vectors. Spark has four programs in clinical trials and is creating the path to a world where no life is limited by genetic disease.




CEVEC药品: A leading provider of high-performance cell technology for the manufacturing of advanced biotherapeutics from R&D to manufacturing scale.
Dyno Therapeutics:使用人工智能来设计下一代腺相关病毒载体,并在Roche和Spark上合作,以允许为较大的患者种群开发基因治疗。乐动-网站
Sarepta Therapeutics:一家全球生物技术公司,与Roche合作执行紧急任务:为危及生命并削减未来的稀有疾病的精确遗传医学,乐动-网站包括Duchenne肌肉发达。
4DMT: A gene therapy company with a transformative discovery platform that enables a “disease first” approach to product discovery and development, allowing customized adeno-associated virus vectors to target specific tissue types associated with the underlying disease.


Roche is committed to driving groundbreaking scientific and technological advances that have the potential to transform the lives of patients worldwide. But we不能一个人做。了解为什么我们是首选的第一合作伙伴,以及我们在合作伙伴和我们的合作伙伴中寻找的东西areas of interest, 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.