Category Archives: Gene Medicine

No boy should have a last stretch of days. But Bertrand Might lived his as well as any boy could: There was a Star Trek marathon with his brother and sister, sunrises on the lakeshore, and visits with family in parks, beaches, and backyards anywhere they could safely gather during the pandemic.

His father, Matt Might, said it ended up being an unplanned farewell for 12-year-old Bertrand, whose health had always been precarious. He was the first person in the world diagnosed with a particular neurodegenerative condition that causes developmental delays, seizure-like activity in the brain, and frequent infections.

One of those infections, unrelated to Covid-19, led to his death on Oct. 23 after he spiraled into septic shock. But if his passing came too soon, it did not come before his life led to crucial discoveries for dozens of children with his condition.

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What he did with NGLY1 alone was pretty powerful, said Matt Might, referring to the gene involved in his sons disease. After years of research, it was the discovery of a double mutation in Bertrands NGLY1 gene, and the constellation of symptoms linked to it, that explained the cause of the illness and built a worldwide community around it.

There are 70 families on the patient mailing list right now for a disease that eight years ago didnt exist, Might said.

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Bertrand also inspired a quest by his father, an artificial intelligence expert and computer programmer, to employ precision medicine on a wider scale, using genetic data to help tailor treatments to patients with rare and hard-to-treat diseases like his sons.

Might began that work initially to help Bertrand, but it led to a stint on President Obamas precision medicine initiative and the creation of a new precision medicine institute (PMI) he now leads at the University of Alabama, Birmingham.

PMI was founded on this algorithm that Bertrand taught me, Might said. How do you try to therapeutically modulate a specific genetic target? There is a central game plan we use every time somebody comes in.

Might and his team examine what gene is involved in a persons condition and whether it is under-reactive, over-reactive, toxic, or missing altogether. The answers to those questions form the basis for a scientific process that often gives patients hope when conventional medicine has failed to provide an accurate diagnosis or effective treatments. A permanent endowment has been established at UAB in Bertrands name to fund advanced diagnostics and research to identify novel therapies for patients with no other options.

In Bertrands case, the double mutation in NGLY1 left him without an enzyme that facilitates the recycling of cellular waste. It severely limited his mobility, requiring him to use a wheelchair, and also impaired his liver function and ability to communicate.

Still, Bertrand drove the science of his condition while enduring countless hospitalizations, often due to infections that made it difficult to breathe.

Throughout his life, he developed a love for dolphins and an aquarium his parents set up in his bedroom. He spent hours learning words and reading with his father and mother, Cristina, and he bonded with his younger brother and sister over movies and video games.

Im proud of Bertrand in multiple ways, Might said. I would often tell people to imagine a being created without the ability to even feel malice. He was just a pure being, and I loved that about him.

In recent years, the science that led to his diagnosis has also begun to unravel the biology of NGLY1 deficiency and its impact on patients. A project sponsored by the National Institutes of Health is underway to screen hundreds of thousands of molecules for therapeutic potential against the illness, while Might has used computational methods to identify treatments that showed efficacy in animal subjects.

On Bertrands last day in the hospital, as his condition continued to deteriorate, his father read him an email from the father of another patient with his illness. It said that the Food and Drug Administration seemed pleased with pre-clinical studies of a gene therapy for NGLY1 and outlined a series of steps toward a clinical trial.

It was so meaningful to know the community that Bertrand formed has spawned efforts well beyond my own, Might said. And in the end, he died in a world where the hope of a cure existed.

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The life and death of a boy whose diagnosis brought hope to other patients - STAT

Precision medicines, such as cell therapies, remain expensive to manufacture and hard to access by patients. For example, Kymriah, the first chimeric antigen receptor (CAR) T-cell treatment approved in the United States, can have price tags as high as $475,000. Unfortunately, precision medicines are expensive to develop and manufacture, and the costs are ultimately borne by taxpayers and patients, according to The State of Personalized/Precision Medicine a report issued last year by GlobalData.

Today, companies are developing new models to lower the costs of manufacturing and bring drugs to more patients. Among them are companies developing new business models and services, innovative equipment for on-site manufacturing in hospitals, and improved formulation technology.

A key challenge for companies is scaling up the delivery of precision medicines, notes Janel Firestein, partner and life sciences industry leader at Clarkston Consulting. Companies supplying precision medicines are harvesting material for patients in a hospital or clinic, and then freezing or shipping it fresh to a contract manufacturing organization (CMO), contract development and manufacturing organization (CDMO), or other manufacturing entity.

What were seeing with a lot of our clients leveraging contract manufacturers is theyre contracting for specific slots, she says. They have x number of slots per week or month, and the scalability of that is hard.

Precision medicines are manufactured in small batches in accordance with genetic, environmental, and lifestyle factors, that is, for patients in subpopulations that meet certain well-defined criteria. (The subset of precision medicines known as personalized medicines are even more specific; that is, they are developed uniquely for each individual patient.) If a patient doesnt pass prescreening at the scheduled time, Firestein warns, the manufacturing slot for the patients treatment is lost unless the manufacturer can find another eligible patient.

Conversely, if the company is working across multiple CMOs in different countries, it needs to schedule slots in a predictable way. You need to know which slots are open, Firestein points out. You need to leverage automation and artificial intelligence to give a manufacturing view to physicians at the patient hub, so they know which dates are available and can ensure the patients cells are viable upon receipt at the manufacturing plant.

Orgenesis is among the companies turning to localization to deliver precision medicines to patients. The companys CEO and director, Vered Caplan, is a serial entrepreneur and among the top 20 inspirational leaders in advanced medicine listed in The Medicine Makers Power List 2020. Caplan has developed a point-of-care business model for hospitals that combines technological and biological development with a business strategy.

We see that centralized processing is very costly, she explains. It can be a solution for companies working in clinical trials, butonce you get to marketit is not feasible for large numbers of patients.

The companys Cell & Gene Therapy Biotech Platform incorporates the following elements: POCare Therapeutics, a pipeline of licensed cell and gene therapies (CGTs); POCare Technologies, a suite of proprietary and in-licensed technologies; and POCare Network, a collaborative, international ecosystem of research institutes and hospitals. This platform, the company asserts, is about decentralization, enabling precision medicines to be prepared on-site at hospitals.

The platform automates the production of precision medicines by validating closed box processes to reduce cleanroom footprints once the product gets to market. Caplan works to develop and commercialize drugs that can be licensed for use by hospitals in the Orgenesis network.

What we do is offer a low-cost supply platform with processing and regulatory solutions that are validated in a harmonized fashion, she details. Essentially, we take responsibility for R&D. Our hospitals are partners, and because were working in a network, the economic burden isnt high, and we can supply the therapy at a reasonable cost.

The Orgenesis approach doesnt follow the usual approach, which involves a hospital research center licensing its drug to a pharmaceutical company, which then pays the center for clinical trials. Instead, Orgenesis works in partnership with a partner hospital throughout the commercialization process. Production of the final product is automated and supplied via an on-site point-of-care processing unitreducing the complex logistics involved in transporting cells.

Fujifilm Diosynth Biotechnologies, a global CDMO, is developing a new platform to streamline the development of adeno-associated viruses (AAVs) for gene therapies. There are three methods to make AAVs, says Steve Pincus, PhD, the companys head of science and innovation. Two of the methods use viral vectors, and a third uses plasmids.

People using the latter need a source of cells and plasmids, he notes. Unfortunately, there are few licensable cell lines and few plasmid manufacturers. Consequently, as Pincus points out, If you want to manufacture your GMP plasmids at one of these, you have to wait 6 to 12 months to get in the queue.

Fujifilm wanted to tackle these problems, so it decided to license five different Rep-Cap plasmids, an adenovirus helper plasmid, and a human embryonic kidney 293 (HEK293) cell line for AAV production by plasmid transfection from Oxford Genetics. Pincus explains that by licensing these technologies, the company means to offer an HEK293 master cell bank that is well characterized and stocks GMP-grade Rep-Cap and helper plasmids, so that people can come and use those readily available reagents without having to wait 6 to 12 months, and so that the clients pay only for what they need.

To support the production of AAVs, Pincus and his team are developing specialized upstream and downstream processes. They are also developing in-process analytics for common problems in the AAV manufacturing space, such as measuring empty and full virus capsids.

Earlier this year, on September 8, Lonza announced that in a project at Sheba Medical Center in Israel, the first cancer patient received a CAR T-cell therapy that had been manufactured using the companys Cocoon platform. Cocoon is another model for distributed manufacturinga closed, automated piece of equipment for manufacturing cell therapies at the scale of a single patient, with a custom cassette that incorporates all the media, agents, and other consumables.

When you look at the way cell therapies are manufactured, one of the costs is cleanroom space, says Matthew Hewitt, PhD, head of clinical development and personalized medicine at Lonza. A cleanroom suite graded class B for air quality is noticeably more expensive than one graded class C, and the size of the room also matters. If you move to a closed or functionally closed automated platform like the Cocoon that has integrated cell culture, then you can move to cheaper cleanroom space, Hewitt asserts. or you can increase the manufacturing density in your existing cleanroom to use the space more efficiently.

Hewitt divides CAR T-cell manufacturing into a seven-step process: 1) collecting a patient sample; 2) preparing the sample for manufacturing; 3) activating the cells; 4) modifying (transducing) the cells; 5) expanding cell populations as needed for dosing; 6) washing, harvesting, and formulating the cells; and 7) dosing the patient. According to Hewitt, the steps currently automated by Cocoon include activation, transduction, and washing/harvesting/formulation. Additional automation features, he says, will debut in the coming months. Later this year, the company will begin beta testing automatic magnetic cell separation. Next year, the company plans to incorporate automated sample preparation into the Cocoons cassette.

Speaking on the future of manufacturing for precision medicine, Hewitt says he sees a role for both distributed and centralized models. Lonzas centralized facility in Houston, TX, for example, can offer standardized and well-controlled conditions, as well as an experienced team, for process development and early-stage activities.

Once you get to later stages, he points out, manufacturing needs to be moved toward the point of care to mitigate any issues with logistics. He adds that as cell therapies become more common, building enough space to process patient therapies at a centralized facility becomes increasingly impractical. Even if your centralized location served 50,000 patients a year, he says, the logistics would be a heroic endeavor.

Gene and cell therapies dont have much going on in terms of formulation, says Maria Croyle, PhD, professor of molecular pharmaceutics and drug delivery at the University of Texas at Austin. The formulation side needs to catch up.

She argues that even though precision medicines are often formulated just by adding glycerol to the cells, preparing precision medicines to dose the patient is often a complex process. When I talk about these therapies to my students, she relates, I explain that you need to thaw them out and do complicated dilutions. Its not as simple as adding 5 mL to a flask.

Precision medicines are often stored on-site in ultra-low-temperature (80C) freezers, devices that are, Croyle notes, expensive to run. The costs are often passed onto the patient. In addition, preparing the medications often involves lengthy dilution processes. Any of these medications that arent used within a couple of hours must be discarded, pushing costs yet higher.

Although some companies are moving to freeze-drying as a way to preserve living viruses and cells, preserving a live virus can take 48 to 72 hours. I had no idea until I talked to industry how much freezer dryers were a power drain, she recalls. They use a lot of electricity for 72-plus hours, and thats added to the cost of the drug.

Croyle has developed a method for stabilizing live viruses inspired by the film Jurassic Park, which depicted the recovery of dinosaur DNA from amber. She has three patents on a peelable film, inspired by amber, into which gene therapy or vaccine products can be suspended and dried within hours. You can mix them by 8 am, peel them by 3 pm, and package them to be sent off, she asserts. Its very simple and space savingits just a flat envelope with a strip of film, and it can be used in a variety of ways.

Film-packaged doses, she says, can be rehydrated to produce nasal-sprayable vaccines or injectable gene therapy solutions, or they can be placed under the tongue and upper cheek, where dissolution of the film surface releases the vaccine, activating an immune response. To commercialize the technology, she has founded Jurata Thin Film. The company is named after a mythical Lithuanian goddess who lived in an amber castle under the sea.

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Precision Medicines That Are Tailored and Off-the-Rack - Genetic Engineering & Biotechnology News

CAMBRIDGE, Mass., Nov. 02, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that senior management will participate in a fireside chat at the 29th Annual Credit Suisse Virtual Healthcare Conference on Monday, November 9, 2020 at 3:30 p.m. E.T.

The presentation will be webcast live under the investor relations section of Sareptas website at http://www.sarepta.com and will be archived there following the presentation for 90 days. Please connect to Sarepta's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary.

About Sarepta TherapeuticsAt Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visit http://www.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of Information

We routinely post information that may be important to investors in the 'Investors' section of our website at http://www.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.Investors:Ian Estepan, 617-274-4052, iestepan@sarepta.com

Media:Tracy Sorrentino, 617-301-8566, tsorrentino@sarepta.com

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Sarepta Therapeutics to Present at the 29th Annual Credit Suisse Virtual Healthcare Conference - Yahoo Finance

Nov. 5, 2020 06:00 UTC

TOKYO & CAMBRIDGE, Mass.--(BUSINESS WIRE)-- Modalis Therapeutics Corporation (Modalis) (TOKYO: 4883), a leading company developing innovative products for the treatment of rare genetic diseases utilizing its proprietary CRISPR-GNDM epigenetic gene modulation technology, today reported financial results for the third quarter ended September 30, 2020, as well as recent operational highlights.

"Our goal is to create CRISPR based gene therapies for genetic disorders, most of which fall into the orphan disease category. There should be no disease that is ignored because of its small patient population, and our mission to develop disease modifying treatments for these diseases reflects our belief that Every Life Deserves Attention. We are proud to be a pioneer in CRISPR based gene modulation therapies and we are grateful to our investors and employees who are working to fulfill this important mission, said Haru Morita, Chief Executive Officer of Modalis.

Operational Highlights:

Third Quarter 2020 Financial Results:

About Modalis:

Modalis Therapeutics is developing precision genetic medicines through epigenetic gene modulation. Founded by Osamu Nureki and leading scientists in CRISPR gene editing from University of Tokyo, Modalis is pursuing therapies for orphan genetic diseases using its proprietary CRISPR-GNDM technology which enables the locus specific modulation of gene expression or histone modification without the need for double-stranded DNA cleavage, gene editing or base editing. Modalis is focusing initially on genetic disorders caused by loss of gene regulation resulting in excess or insufficient protein production which includes more than 660 genes that are currently estimated to cause human disease due to haploinsufficiency. Headquartered in Tokyo with laboratories and facilities in Cambridge, Massachusetts. For additional information, visit http://www.modalistx.com.

Consolidated Financial Results for the Nine Months Ended September 30, 2020 [Japanese GAAP]

Company name: Modalis Therapeutics CorporationStock exchange listing: Tokyo Stock ExchangeCode number: 4883URL: https://www.modalistx.com/jp/ Representative: Haruhiko Morita, President and Representative DirectorContact: Naoki Kobayashi, CFO and Executive OfficerPhone: +81-3-6822-4584Scheduled date of filing quarterly securities report: November 13, 2020Scheduled date of commencing dividend payments: -Availability of supplementary briefing material on quarterly financial results: AvailableSchedule of quarterly financial results briefing session: -

(Amounts of less than one million yen are rounded down.)

1.

Consolidated Financial Results for the Nine Months Ended September 30, 2020 (January 1, 2020 to September 30, 2020)

(1) Consolidated Operating Results

(% indicates changes from the previous corresponding period.)

Operating revenue

Operating income

Ordinary income

Profit attributable toowners of parent

Nine months ended

Million yen

%

Million yen

%

Million yen

%

Million yen

%

September 30, 2020

340

-

168

-

209

-

214

-

September 30, 2019

-

-

-

-

-

-

-

-

(Note)

Comprehensive income:

Nine months ended September 30, 2020: 215 million [-%]

Nine months ended September 30, 2019: - million [-%]

Basic earnings

per share

Diluted earnings

per share

Nine months ended

Yen

Yen

September 30, 2020

8.34

-

September 30, 2019

-

-

(Notes)

1. The Company has not prepared the consolidated financial statements for the nine months ended September 2019. Accordingly, no figures are shown for the nine months ended September 30, 2019 and no percentage changes are shown for the nine months ended September 30, 2020.

2. Although the Company has dilutive shares, diluted earnings per share are not indicated because the Companys shares were not listed and the average share price is not available for the period under review.

(2) Consolidated Financial Position

Total assets

Net assets

Capital adequacyratio

Million yen

Million yen

%

As of September 30, 2020

6,480

6,428

99.2

As of December 31, 2019

3,938

3,842

97.6

(Reference)

Equity:

As of September 30, 2020: 6,428 million

As of December 31, 2019: 3,842 million

View source version on businesswire.com: https://www.businesswire.com/news/home/20201104005831/en/

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Modalis Therapeutics Reports Third Quarter 2020 Financial Results and Operational Highlights - BioSpace

WIRED Health:Tech is one of the most prominent annual conferences exploring technological advances in medicine. This year, the main topics included artificial intelligence, remote surgical systems, and the ongoing fight against COVID-19.

This years WIRED Health:Tech conference took place online last month, in an effort to adapt to the challenges posed by the current pandemic.

A range of specialists held presentations about the latest advances in medical technology, including remote surgical systems, e-health, CRISPR technology, and the issue on everyones mind this year: how research can combat the COVID-19 pandemic.

In this Special Feature, we offer an overview of the panels and main takeaways from the presentations.

Stay informed with live updates on the current COVID-19 outbreak and visit our coronavirus hub for more advice on prevention and treatment.

Throughout many of the WIRED Health:Tech presentations, the recurring theme was how technology is helping or hindering the fight against SARS-CoV-2, the coronavirus that has given rise to the current pandemic.

Prof. Heidi Larson from the London School of Hygiene & Tropical Medicine in the United Kingdom spoke of the global response to vaccines, an issue of paramount importance in the context of the pandemic.

Prof. Larson noted that according to her and her colleagues research which appears in The Lancet peoples feelings about vaccines have become far more volatile.

Its a lot more like political opinion polling. They used to be much more stable 1020 years ago. You knew who agreed and who was less confident around vaccines, but thats changing very frequently, she observed.

However, she did offer some positive news:

The overall picture is that [] there is a general trend where people are becoming a little more confident [about vaccines] than they were 5 years ago.

According to Prof. Larson, this may be because public health specialists and communicators are more proactive in dismantling pervasive myths about vaccination over the past few years.

Nevertheless, she cautioned, we do see that Europe remains the lowest in confidence, the most skeptical, with countries like Lithuania [where] only 19% strongly believe that vaccines are safe. The highest [rate] is [in] Finland, at 66% and thats just strongly believe.'

Poland had the most significant drop in confidence in vaccines, she noted.

She also emphasized these fluctuations in confidence in vaccines across the globe occurred before the pandemic. In the current situation, Prof. Larson said, sentiments surrounding vaccinations have become even more volatile.

Because of the hyper-uncertainty and the whole environment of trust and distrust around the COVID vaccine, there are groups that have gotten together to resist even the COVID vaccine, she warned.

The danger of anti-vaccination mentalities can only be mitigated by giving science more of a human face, Prof Larson argued:

We need to bring together the scientific, technological advances that are so valuable, and not lose the human face, but bring that back together [with the scientific perspective]. This isnt just a misinformation problem. This is a relationship problem. This is a cultural revolution, saying we need to change, we need to get back to a more human face in the scientific and medical field.'

Prof. Devi Sridhar a public health advisor and the chair of the Global Public Health department at the University of Edinburgh in the U.K. spoke of the next steps in the fight against the pandemic.

Speaking of the U.K. situation, Prof. Sridhar said that there are certain key actions that the country needs to take to put a stop to the spread of the virus more efficiently:

I think the crucial thing is getting the testing sorted. You need to have a test turnaround time [of] less than 24 hours and have testing widely available. And also [] a strategy: What is the point of a lockdown, what [is] the point of the restrictions?

Other countries have used the lockdown Im thinking of New Zealand, Taiwan, Vietnam, Thailand, Australia [] but theyre using the lockdown to try and eliminate the virus, to get rid of it, and then put in place checks for reimportation, she added.

Prof. Agnes Binagwaho vice chancellor at the University of Global Health Equity in Rwanda went on to speak of the innovations that Rwandan authorities implemented to curb the spread of the new coronavirus in the country.

Prof. Binagwaho said that the first step was to identify both the obstacles and facilitators when it came to stopping the spread of SARS-CoV-2.

According to the expert, having a clear idea of these factors allowed the authorities to establish the best strategy for containing the spread of the virus.

Most importantly, however, according to Prof. Binagwaho, Rwandan authorities made sure to keep its citizens up-to-date with all the daily news regarding the local spread of the virus both good and bad.

[W]hen you need the population to do something to protect itself [] that is not usual, trust counts more than money, she commented.

Some of the technological innovations that the country implemented during the pandemic were robots that take peoples temperatures in airports and hospitals, to limit human contact, and drones that carry supplies to areas that lack appropriate resources.

Prof. Christofer Toumazou from Imperial College London in the U.K. spoke of how technological advances could help during the current pandemic.

Prof. Toumazou, an electronic engineer, created DnaNudge, a fast and accessible DNA testing technology. Its original purpose was helping people understand what health conditions their genetic makeup might predispose them to, so they could make healthier choices.

At WIRED, the researcher and his colleagues said that they adapted this technology to detect COVID-19, creating tests with a turnaround time of only 90 minutes.

In the U.K., the government ordered 5.8 million such tests for state hospitals.

Effectively, it took a pandemic for us to get a technology thats [] prepared for personalized medicine into the hospital system. So the only way that we could bulldoze this was through COVID, Prof. Toumazou noted.

The researcher emphasized just how important this step may be for health, particularly for people with mental health conditions, who would not have to anxiously wait for 48 hours in isolation for their test results.

In a panel discussion, Dr. Indra Joshi director of Artificial Intelligence at NHSx, the U.K. governmental unit responsible for developing national health policies also went on to stress that advanced technology may help not just to better understand the pathology of COVID-19, but also to identify the people who are most at risk.

This, she added, could allow healthcare professionals to provide help faster to those who are likely to be the most affected by infection with the new coronavirus.

In Dr. Joshis view, advances in technology could therefore offer a holistic view of a persons health status and risks, beyond diagnosing COVID-19.

Another panel discussion focused on recent developments in finding a vaccine against the new coronavirus.

The two participants were Tal Zaks, Chief Medical Officer of Moderna Therapeutics, and Prof. Uur ahin, co-founder and CEO of BioNTech.

Both Moderna and BioNTech are testing mRNA candidate vaccines, which use genetic information rather than a viral base to train the immune system against the new coronavirus.

Speaking of the advantages of an mRNA vaccine versus other forms of vaccines, Zaks said that it is better in a number of fundamental ways.

The first is that because we start with genetic information, there is a component of speed that allows you to get into the clinic and then, once youre in the clinic, scale-up manufacturing. Its not by chance that the two leading efforts both leverage mRNA technologies, he pointed out.

I think the second one [] is the biological preciseness so, when you make a recombinant protein, or you otherwise characterize a biologic, the process makes a lot of difference and a lot of things can go wrong. When youre transmitting the [genetic] information, theres no way for the cell to make the wrong bit. So the biological fidelity, if you will, has a higher likelihood to then translate into the kind of immune response you want.

Tal Zaks

I think the last element here is its a very flexible platform, and this takes us a little bit beyond COVID, but the infrastructure required is relatively small and quick, which means, in the manufacturing space, you have tremendous agility that usual technologies dont, Zaks added.

At the time of the WIRED conference, clinical trials for the Moderna and BioNTech candidate vaccines were at similar stages. Since the two approaches have similar premises, the question arises: does this create a sense of competition between the two companies?

According to Zaks, in the context of a pandemic, this is not a valid question. I only have two competitors here: the virus and the clock, he asserted.

He added that should both the Moderna and the BioNTech candidate vaccines demonstrate safety and efficacy, this would be an ideal situation.

The world needs more than one company to succeed here, he said, noting that, if the virus is truly here to stay, as previous research suggests, more than one vaccine may become necessary in the long run.

Prof. ahin agreed:

The way [in which] the whole industry developed vaccines against COVID-19 [] is the best performance of collaboration. Its important to see how people team up for collaboration. Moderna teamed up with the NIH [the National Institutes of Health], we teamed up with Pfizer, AstraZeneca teamed up with Oxford University. So there are several models of collaboration, and we have the strongest transparency in the development of a vaccine.

People see the data almost in real-time coming in, and people understand how [a] phase 1 trial works, how a phase 3 trial works, and Moderna and we even shared our phase 3 protocols so that everyone can see in a transparent fashion how the studies perform and how they are evaluated, Prof. ahin added.

The two researchers also emphasized that this sense of transparency regarding the development of new pharmaceutical products is essential in the long run. They also expressed hope that it may persist after the pandemic subsides.

When asked whether the candidate vaccine development was rushed, so that pharmaceuticals can distribute them sooner rather than later, Prof. ahin explained that the pandemic has caused researchers to find a better, more efficient method of proceeding with clinical trials not a less reliable one.

One important aspect is that instead of skipping [steps] or cutting corners, we decided to do things in parallel. Usually, [in] vaccine development [] you do a phase 1 study, and maybe 6 or 12 months later a phase 2 study, and then decide whether you would do a phase 3 study, he explained.

This is based on minimizing the cost risk, but also based on the traditional way [in which a vaccine] is developed. It is not the best way it is just the traditional way, he also emphasized.

While many of the talks at WIRED Health:Tech revolved around the fight against COVID-19, some also focused on other technological advances in improving patient care.

Dr. Eric Topol founder and director of the Scripps Research TranslationalInstitute talked about using technology to make medicine more humanistic.

The main objective of AI for healthcare and medicine has been to improve accuracy, so that doctors can improve how they diagnose disease and care for their patients, he observed.

This is what is known as precision medicine. But Dr. Topol believes that using AI in medical practice could bring about more far-reaching benefits.

This could include freeing healthcare practitioners from tasks, such as filing information about their patients into digital systems, so that they can pay more attention to their patients.

Medicine has eroded terribly its a rushed job, Dr. Topol asserted in his talk. We see patients in a single-digit number of minutes, and thats not enough.

You need the gift of time, which AI can give back so that people dont feel so rushed and doctors and nurses and clinicians dont feel so rushed either. [] We want to have clinicians and doctors spending more time with patients and less time [at the computer] keyboard.

Dr. Pearse Keane a National Institute for Health Research clinician-scientist at the Institute of Ophthalmology at University College London spoke of how doctors could soon use AI algorithms to diagnose and treat early-stage retinal diseases a set of eye problems that can lead to vision loss.

Dr. Keane made a similar point to Dr. Topols argument, stressing that so many people are affected by eye diseases in the U.K. that specialists are often overwhelmed by the sheer amount of patients waiting for diagnosis and treatment.

Some people are essentially going blind because they cannot be seen and treated early enough, Dr. Keane said. But new technologies and in particular, AI, have at least some role in addressing this problem, he added.

Dr. Keane and colleagues from Moorfields Eye Hospital collaborated with scientists specializing in using the AI technology DeepMind, in demonstrating how to train the system to diagnose retinal diseases correctly and fast-track referrals for specialist treatment.

The researchers published the results of their study in Nature Medicine in 2018. Now, Moorfields Eye Hospital are building a new care and research center, with plans to integrate more advanced technology into this setting.

But Dr. Keane argues that clinical AI help by linking various health data, therefore offering a bigger picture of a persons overall health status and health risks.

Dr. Mark Slack chief medical officer and co-founder of CMR Surgical spoke of the potential of Versius, a surgical robotic system that can help specialists carry out minimally invasive keyhole surgery.

Is keyhole surgery better than open surgery? There are huge advantages for keyhole surgery, Dr. Slack asserted in his presentation.

If you have a large wound [following open surgery], about 50% of those patients will go back to the hospital. If you have a small, minimal-access wound, almost none will go back. If you have a large wound, about a fifth of patients will be required to go back into [the operating] theater if they get a wound infection [] [but] roughly 50% of complications are reduced by having keyhole surgery rather than open [surgery].

Dr. Mark Slack

Finally, Prof. Jennifer Doudna a biochemist at UC Berkeley and founder of the Innovative Genomics Institute, who co-invented CRISPR technology spoke of the revolutionary potential of gene editing. This new technology has taken the medical research world by storm.

Prof. Doudna described gene-editing technology as molecular surgery its a way to alter the DNA in cells and organisms in ways that allow precise correction of disease-causing [genetic] mutations and also allow scientists to do all sorts of other kinds of manipulations of genetic material on living cells and organisms, she explained.

One way in which gene-editing tools might be helpful, she said, might be by helping treat severe blood disorders such as sickle cell disease. Other applications might be in the treatment of eye diseases or even muscular dystrophy.

The scientist explained that, besides CRISPR technologys potential in treating disease, it could also come in handy when detecting viruses, including the new coronavirus.

She even suggested that in the coming months, there may be a CRISPR-based point-of-care diagnostic tool that could help doctors identify infections much faster.

She concluded her talk by noting that:

The potential of this technology continues to advance. I think the keys will be delivery and control of the editing and, of course, ensuring safety, effectiveness, and access. The possibilities are extraordinary its really an exciting time to be working in this field.

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WIRED Health:Tech 2020: Latest advances and the fight against COVID-19 - Medical News Today

NEW YORK--(BUSINESS WIRE)--Rocket Pharmaceuticals, Inc. (NASDAQ: RCKT) (Rocket), a clinical-stage company advancing an integrated and sustainable pipeline of genetic therapies for rare childhood disorders, today announces presentations at the upcoming 62nd American Society of Hematology (ASH) Annual Meeting being held virtually December 5-8, 2020. There will be two oral presentations highlighting clinical data from the Fanconi Anemia (FA) and Leukocyte Adhesion Deficiency-I (LAD-I) programs as well as a poster presentation highlighting preliminary clinical data from the Pyruvate Kinase Deficiency (PKD) program. All three programs utilize Rocket's "Process B" manufacturing platform.

Details for Rockets presentations are as follows:

Oral Presentations Title:Gene Therapy for Fanconi Anemia, Complementation Group A: Updated Results from Ongoing Global Clinical Studies of RP-L102Session Title:Gene Editing, Therapy and Transfer IPresenter:Agnieszka Czechowicz, M.D., Ph.D., Assistant Professor of Pediatrics, Division of Stem Cell Transplantation, Stanford University School of MedicineSession Date:Monday, December 7, 2020Session Time:11:30 a.m. - 1:00 p.m. (Pacific Time)Presentation Time: 12:15 p.m. (Pacific Time)

Title:Phase 1/2 Study of Lentiviral-MediatedEx-VivoGene Therapy for Pediatric Patients with Severe Leukocyte Adhesion Deficiency-I (LAD-I): Results from Phase 1Session Title:Gene Editing, Therapy and Transfer IPresenter:Donald Kohn, M.D., Professor of Microbiology, Immunology and Molecular Genetics, Pediatrics (Hematology/Oncology), Molecular and Medical Pharmacology, and member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at the University of California, Los AngelesSession Date:Monday, December 7, 2020Session Time:11:30 a.m. - 1:00 p.m. (Pacific Time)Presentation Time: 12:30 p.m. (Pacific Time)

Poster PresentationTitle: Lentiviral Mediated Gene Therapy for Pyruvate Kinase Deficiency: A Global Phase 1 Study for Adult and Pediatric PatientsSession Title: Gene Editing, Therapy and Transfer: Poster IIPresenter: Jos Luis Lpez Lorenzo, M.D., Hospital Universitario Fundacin Jimnez Daz, Madrid, SpainSession Date: Sunday, December 6, 2020Session Time: 7:00 a.m. 3:30 p.m. (Pacific Time)

About Fanconi AnemiaFanconi Anemia (FA) is a rare pediatric disease characterized by bone marrow failure, malformations and cancer predisposition. The primary cause of death among patients with FA is bone marrow failure, which typically occurs during the first decade of life. Allogeneic hematopoietic stem cell transplantation (HSCT), when available, corrects the hematologic component of FA, but requires myeloablative conditioning. Graft-versus-host disease, a known complication of allogeneic HSCT, is associated with an increased risk of solid tumors, mainly squamous cell carcinomas of the head and neck region. Approximately 60-70% of patients with FA have a Fanconi Anemia complementation group A (FANCA) gene mutation, which encodes for a protein essential for DNA repair. Mutation in the FANCA gene leads to chromosomal breakage and increased sensitivity to oxidative and environmental stress. Increased sensitivity to DNA-alkylating agents such as mitomycin-C (MMC) or diepoxybutane (DEB) is a gold standard test for FA diagnosis. Somatic mosaicism occurs when there is a spontaneous correction of the mutated gene that can lead to stabilization or correction of a FA patients blood counts in the absence of any administered therapy. Somatic mosaicism, often referred to as natural gene therapy provides a strong rationale for the development of FA gene therapy because of the selective growth advantage of gene-corrected hematopoietic stem cells over FA cells.

About Leukocyte Adhesion Deficiency-ISevere Leukocyte Adhesion Deficiency-I (LAD-I) is a rare, autosomal recessive pediatric disease caused by mutations in the ITGB2 gene encoding for the beta-2 integrin component CD18. CD18 is a key protein that facilitates leukocyte adhesion and extravasation from blood vessels to combat infections. As a result, children with severe LAD-I are often affected immediately after birth. During infancy, they suffer from recurrent life-threatening bacterial and fungal infections that respond poorly to antibiotics and require frequent hospitalizations. Children who survive infancy experience recurrent severe infections including pneumonia, gingival ulcers, necrotic skin ulcers, and septicemia. Without a successful bone marrow transplant, mortality in patients with severe LAD-I is 60-75% prior to the age of 2 and survival beyond the age of 5 is uncommon. There is a high unmet medical need for patients with severe LAD-I.

Rockets LAD-I research is made possible by a grant from the California Institute for Regenerative Medicine (Grant Number CLIN2-11480). The contents of this press release are solely the responsibility of Rocket and do not necessarily represent the official views of CIRM or any other agency of the State of California.

About Pyruvate Kinase DeficiencyPyruvate kinase deficiency (PKD) is a rare, monogenic red blood cell disorder resulting from a mutation in the PKLR gene encoding for the pyruvate kinase enzyme, a key component of the red blood cell glycolytic pathway. Mutations in the PKLR gene result in increased red cell destruction and the disorder ranges from mild to life-threatening anemia. PKD has an estimated prevalence of 3,000 to 8,000 patients in the United States and the European Union. Children are the most commonly and severely affected subgroup of patients. Currently available treatments include splenectomy and red blood cell transfusions, which are associated with immune defects and chronic iron overload.

RP-L301 was in-licensed from the Centro de Investigaciones Energeticas, Medioambientales y Tecnologicas (CIEMAT), Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER) and Instituto de Investigacion Sanitaria Fundacion Jimenez Diaz (IIS-FJD).

About Rocket Pharmaceuticals, Inc.Rocket Pharmaceuticals, Inc. (NASDAQ: RCKT) (Rocket) is advancing an integrated and sustainable pipeline of genetic therapies that correct the root cause of complex and rare childhood disorders. The companys platform-agnostic approach enables it to design the best therapy for each indication, creating potentially transformative options for patients afflicted with rare genetic diseases. Rocket's clinical programs using lentiviral vector (LVV)-based gene therapy are for the treatment of Fanconi Anemia (FA), a difficult to treat genetic disease that leads to bone marrow failure and potentially cancer, Leukocyte Adhesion Deficiency-I (LAD-I), a severe pediatric genetic disorder that causes recurrent and life-threatening infections which are frequently fatal, Pyruvate Kinase Deficiency (PKD) a rare, monogenic red blood cell disorder resulting in increased red cell destruction and mild to life-threatening anemia and Infantile Malignant Osteopetrosis (IMO), a bone marrow-derived disorder. Rockets first clinical program using adeno-associated virus (AAV)-based gene therapy is for Danon disease, a devastating, pediatric heart failure condition. For more information about Rocket, please visit http://www.rocketpharma.com.

Rocket Cautionary Statement Regarding Forward-Looking StatementsVarious statements in this release concerning Rocket's future expectations, plans and prospects, including without limitation, Rocket's expectations regarding its guidance for 2020 in light of COVID-19, the safety, effectiveness and timing of product candidates that Rocket may develop, to treat Fanconi Anemia (FA), Leukocyte Adhesion Deficiency-I (LAD-I), Pyruvate Kinase Deficiency (PKD), Infantile Malignant Osteopetrosis (IMO) and Danon Disease, and the safety, effectiveness and timing of related pre-clinical studies and clinical trials, may constitute forward-looking statements for the purposes of the safe harbor provisions under the Private Securities Litigation Reform Act of 1995 and other federal securities laws and are subject to substantial risks, uncertainties and assumptions. You should not place reliance on these forward-looking statements, which often include words such as "believe," "expect," "anticipate," "intend," "plan," "will give," "estimate," "seek," "will," "may," "suggest" or similar terms, variations of such terms or the negative of those terms. Although Rocket believes that the expectations reflected in the forward-looking statements are reasonable, Rocket cannot guarantee such outcomes. Actual results may differ materially from those indicated by these forward-looking statements as a result of various important factors, including, without limitation, Rocket's ability to monitor the impact of COVID-19 on its business operations and take steps to ensure the safety of patients, families and employees, the interest from patients and families for participation in each of Rockets ongoing trials, our expectations regarding the delays and impact of COVID-19 on clinical sites, patient enrollment, trial timelines and data readouts, our expectations regarding our drug supply for our ongoing and anticipated trials, actions of regulatory agencies, which may affect the initiation, timing and progress of pre-clinical studies and clinical trials of its product candidates, Rocket's dependence on third parties for development, manufacture, marketing, sales and distribution of product candidates, the outcome of litigation, and unexpected expenditures, as well as those risks more fully discussed in the section entitled "Risk Factors" in Rocket's Annual Report on Form 10-Q for the quarter ended June 30, 2020, filed August 5, 2020 with the SEC. Accordingly, you should not place undue reliance on these forward-looking statements. All such statements speak only as of the date made, and Rocket undertakes no obligation to update or revise publicly any forward-looking statements, whether as a result of new information, future events or otherwise.

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Rocket Pharmaceuticals to Present Data from its Fanconi Anemia, Leukocyte Adhesion Deficiency-I and Pyruvate Kinase Deficiency Programs at the 62nd...