Category Archives: Gene Medicine

Chroma Medicine thinks it can silence and activate genes via epigenetic editing, and the biotech uncovered itself with $125 million in financing to test the epigenome's potential in helping treat various diseases.

The biotech is working to create epigenetic editors that can turn on or turn off genesor perform a combination of the twoto regulate gene expression.

The epigenome is the system that informs cells how to comprehend DNA. Think of DNA as the hardware and the epigenome as the software that directs which genes are expressed and which are silenced, explained CEO Catherine Stehman-Breen, M.D., in an interview with Fierce Biotech.

Chroma's epigenetic editors are a "small tweak to the software package that sits on top of the hardware of the genome," said Vic Myer, Ph.D., president and chief scientific officer, in the joint interview. The "beauty of this system" is that Chroma's editor is only needed for a brief moment to change the local epigenetic mark set, he added.

This is done without nicks or cuts to the DNA itself, Stehman-Breen said.

RELATED:GV-backed Cambridge Epigenetix lines up $88M to roll out genetic sequencing technology

With the money in hand, Chroma will move the technology into in vivo proof-of-concept studies in mice and build out manufacturing capabilities, Myer said. The biotech has already reproduced the "critical experiments" conducted by the scientific founders, he added.

The executives declined to disclose which diseases or areas they'd tackle first. The funding will provide runway for a "couple of years," at which point Chroma will have the data to support the next round of financing, Stehman-Breen said.

The one-year-old startup has already combined forces with another biotech via its acquisition of Epsilen Bio, a Milan, Italy-based company working on a "somewhat parallel path,"Stehman-Breen said. Together, the companies are a "powerhouse in terms of epigenetic editing therapeutics," the CEO added.

Chroma's scientific co-founders include a team of epigenetic editing, gene editing and cell therapy experts, Stehman-Breen said. The groundwork was laid by Angelo Lombardo, Ph.D.,and Luigi Naldini, M.D., Ph.D., at the San Raffaele Telethon Institute for Gene Therapy. Chroma's other scientificoriginators include the University of California, San Francisco'sLuke Gilbert, Ph.D., Massachusetts General Hospital's Keith Joung, M.D., Ph.D., the Broad Institute's David Liu, Ph.D., and the Whitehead Institute's Jonathan Weissman, Ph.D.

For her part, Stehman-Breen'sresume includes stints as chief medical officer at Sarepta Therapeutics, chief R&D officer at Obsidian Therapeutics and vice president of global development at both Regeneron and Amgen. Prior to Chroma, Myer held interim C-suite roles at Korro Bio and Obsidian and was chief technology officer at gene-editing pioneer Editas Medicine from 2015 to 2019.

Atlas Venture and Newpath Partners provided seed capital for Chroma last year with Sofinnova Partners. Cormorant, Casdin Capital, Janus Henderson, Omega Funds, T. Rowe Price andWellington Management joined for the series A.

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Gene on, gene off: Chroma Medicine turns lights on with $125M to control gene expression with ex-Editas, Regeneron leaders - FierceBiotech

Discover how gene therapy can treat diseases caused by genetic mutations such as cystic fibrosis

Gene therapy seeks to repair genetic mutations through the introduction of healthy, working genes.

gene therapy, also called gene transfer therapy, introduction of a normal gene into an individuals genome in order to repair a mutation that causes a genetic disease. When a normal gene is inserted into the nucleus of a mutant cell, the gene most likely will integrate into a chromosomal site different from the defective allele; although that may repair the mutation, a new mutation may result if the normal gene integrates into another functional gene. If the normal gene replaces the mutant allele, there is a chance that the transformed cells will proliferate and produce enough normal gene product for the entire body to be restored to the undiseased phenotype.

Human gene therapy has been attempted on somatic (body) cells for diseases such as cystic fibrosis, adenosine deaminase deficiency, familial hypercholesterolemia, cancer, and severe combined immunodeficiency (SCID) syndrome. Somatic cells cured by gene therapy may reverse the symptoms of disease in the treated individual, but the modification is not passed on to the next generation. Germline gene therapy aims to place corrected cells inside the germ line (e.g., cells of the ovary or testis). If that is achieved, those cells will undergo meiosis and provide a normal gametic contribution to the next generation. Germline gene therapy has been achieved experimentally in animals but not in humans.

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cancer: Gene therapy

Knowledge about the genetic defects that lead to cancer suggests that cancer can be treated by fixing those altered genes. One strategy...

Scientists have also explored the possibility of combining gene therapy with stem cell therapy. In a preliminary test of that approach, scientists collected skin cells from a patient with alpha-1 antitrypsin deficiency (an inherited disorder associated with certain types of lung and liver disease), reprogrammed the cells into stem cells, corrected the causative gene mutation, and then stimulated the cells to mature into liver cells. The reprogrammed, genetically corrected cells functioned normally.

Prerequisites for gene therapy include finding the best delivery system (often a virus, typically referred to as a viral vector) for the gene, demonstrating that the transferred gene can express itself in the host cell, and establishing that the procedure is safe. Few clinical trials of gene therapy in humans have satisfied all those conditions, often because the delivery system fails to reach cells or the genes are not expressed by cells. Improved gene therapy systems are being developed by using nanotechnology. A promising application of that research involves packaging genes into nanoparticles that are targeted to cancer cells, thereby killing cancer cells specifically and leaving healthy cells unharmed.

Some aspects of gene therapy, including genetic manipulation and selection, research on embryonic tissue, and experimentation on human subjects, have aroused ethical controversy and safety concerns. Some objections to gene therapy are based on the view that humans should not play God and interfere in the natural order. On the other hand, others have argued that genetic engineering may be justified where it is consistent with the purposes of God as creator. Some critics are particularly concerned about the safety of germline gene therapy, because any harm caused by such treatment could be passed to successive generations. Benefits, however, would also be passed on indefinitely. There also has been concern that the use of somatic gene therapy may affect germ cells.

Although the successful use of somatic gene therapy has been reported, clinical trials have revealed risks. In 1999 American teenager Jesse Gelsinger died after having taken part in a gene therapy trial. In 2000 researchers in France announced that they had successfully used gene therapy to treat infants who suffered from X-linked SCID (XSCID; an inherited disorder that affects males). The researchers treated 11 patients, two of whom later developed a leukemia-like illness. Those outcomes highlight the difficulties foreseen in the use of viral vectors in somatic gene therapy. Although the viruses that are used as vectors are disabled so that they cannot replicate, patients may suffer an immune response.

Another concern associated with gene therapy is that it represents a form of eugenics, which aims to improve future generations through the selection of desired traits. While some have argued that gene therapy is eugenic, others claim that it is a treatment that can be adopted to avoid disability. To others, such a view of gene therapy legitimates the so-called medical model of disability (in which disability is seen as an individual problem to be fixed with medicine) and raises peoples hopes for new treatments that may never materialize.

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gene therapy | Description, Uses, Examples, & Safety ...

Gilmore ONeill, M.B., M.M.Sc., will depart the Company and serve in a consulting capacity through March 31, 2022

CAMBRIDGE, Mass., Nov. 17, 2021 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that, effective immediately, Louise Rodino-Klapac, Ph.D., executive vice president and chief scientific officer, has been named the Companys head of research and development (R&D) and will continue to serve in the role of chief scientific officer. Gilmore ONeill, M.B., M.M.Sc., who has served as head of R&D since 2018, will leave the Company at the end of November and remain in a consulting capacity until March 31, 2022.

Dr. Rodino-Klapac has been central to our efforts around the discovery and development of Sareptas gene therapy platform and was an early collaborator in the development of RNA-based therapies as a therapeutic option for patients with rare diseases, said Doug Ingram, president and chief executive officer, Sarepta. Her exceptional command of our core therapeutic platforms in RNA, gene therapy, and gene editing, and the strength of her scientific leadership has been and will be instrumental as Sarepta advances its industry-leading pipeline of genetic medicines.

Dr. Rodino-Klapac inherits a strong research and development function. Dr. ONeill led our research and development function during a period of enormous expansion and multiple successes, including approvals of our second and third RNA-based therapies for Duchenne muscular dystrophy, and the commencement of pivotal trials for our lead candidates in both our next-generation RNA platform and our gene therapy platform, added Mr. Ingram. On behalf of the entire team, I would like to thank Dr. ONeill for all of his contributions to Sarepta and to the patient communities we serve.

About Sarepta TherapeuticsSarepta is on an urgent mission: engineer precision genetic medicine for rare diseases that devastate lives and cut futures short. We hold leadership positions in Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophies (LGMDs), and we currently have more than 40 programs in various stages of development. Our vast pipeline is driven by our multi-platform Precision Genetic Medicine Engine in gene therapy, RNA and gene editing. For more information, please visit http://www.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

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Forward-Looking StatementsThis press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding the potential benefits related to the announced leadership transition and Sareptas potential to advance its industry-leading pipeline of genetic medicines.

These forward-looking statements involve risks and uncertainties, many of which are beyond Sareptas control. Known risk factors include, among others: leadership transitions can be inherently difficult to manage and may cause uncertainty or a disruption to Sareptas business or may increase the likelihood of turnover in other key officers and employees; Sarepta may not be able to execute on its business plans and goals, including meeting its expected or planned regulatory milestones and timelines, clinical development plans, and bringing its product candidates to market, due to a variety of reasons, many of which may be outside of Sareptas control, including possible limitations of company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner, regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover Sareptas product candidates and the COVID-19 pandemic; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2020, and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by Sarepta which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect the Companys business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review the SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof, except as required by law.

Internet Posting of InformationWe routinely post information that may be important to investors in the 'For 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.

Investor Contact: Ian Estepan, 617-274-4052iestepan@sarepta.com

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

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Sarepta Therapeutics Names Louise Rodino-Klapac, Ph.D., Head of Research and Development - Yahoo Finance

-Initiation of patient enrollment expected by year-end-

-Initiation of patient enrollment expected by year-end-

ZUG, Switzerland and CAMBRIDGE, Mass. and SAN DIEGO, Nov. 16, 2021 (GLOBE NEWSWIRE) -- CRISPR Therapeutics (NASDAQ: CRSP), a biopharmaceutical company focused on developing transformative gene-based medicines for serious diseases, and ViaCyte, Inc., a clinical-stage regenerative medicine company developing novel cell replacement therapies to address diseases with significant unmet needs, today announced that Health Canada has approved the companies Clinical Trial Application (CTA) for VCTX210, an allogeneic, gene-edited, immune-evasive, stem cell-derived therapy for the treatment of type 1 diabetes (T1D). Initiation of patient enrollment is expected by year-end.

With the approval of our CTA, we are excited to bring a first-in-class CRISPR-edited cell therapy for the treatment of type 1 diabetes to the clinic, an important milestone in enabling a whole new class of gene-edited stem cell-derived medicines, said Samarth Kulkarni, Ph.D., Chief Executive Officer of CRISPR Therapeutics. The combination of ViaCytes leading stem cell capabilities and CRISPR Therapeutics pre-eminent gene-editing platform has the potential to meaningfully impact the lives of patients living with type 1 diabetes.

Being first into the clinic with a gene-edited, immune-evasive cell therapy to treat patients with type 1 diabetes is breaking new ground as it sets a path to potentially broadening the treatable population by eliminating the need for immunosuppression with implanted cell therapies, said Michael Yang, President and Chief Executive Officer of ViaCyte. This approach builds on previous accomplishments by both companies and represents a major step forward for the field as we strive to provide a functional cure for this devastating disease.

The Phase 1 clinical trial of VCTX210 is designed to assess its safety, tolerability, and immune evasion in patients with T1D. This program is being advanced by CRISPR Therapeutics and ViaCyte as part of a strategic collaboration for the discovery, development, and commercialization of gene-edited stem cell therapies for the treatment of diabetes. VCTX210 is an allogeneic, gene-edited, stem cell-derived product developed by applying CRISPR Therapeutics gene-editing technology to ViaCytes proprietary stem cell capabilities and has the potential to enable a beta-cell replacement product that may deliver durable benefit to patients without requiring concurrent immune suppression.

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About CRISPR TherapeuticsCRISPR Therapeutics is a leading gene editing company focused on developing transformative gene-based medicines for serious diseases using its proprietary CRISPR/Cas9 platform. CRISPR/Cas9 is a revolutionary gene editing technology that allows for precise, directed changes to genomic DNA. CRISPR Therapeutics has established a portfolio of therapeutic programs across a broad range of disease areas including hemoglobinopathies, oncology, regenerative medicine and rare diseases. To accelerate and expand its efforts, CRISPR Therapeutics has established strategic collaborations with leading companies including Bayer, Vertex Pharmaceuticals and ViaCyte, Inc. CRISPR Therapeutics AG is headquartered in Zug, Switzerland, with its wholly-owned U.S. subsidiary, CRISPR Therapeutics, Inc., and R&D operations based in Cambridge, Massachusetts, and business offices in San Francisco, California and London, United Kingdom. For more information, please visit http://www.crisprtx.com.

About ViaCyteViaCyte is a privately held clinical-stage regenerative medicine company developing novel cell replacement therapies based on two major technological advances: cell replacement therapies derived from pluripotent stem cells and medical device systems for cell encapsulation and implantation. ViaCyte has the opportunity to use these technologies to address critical human diseases and disorders that can potentially be treated by replacing lost or malfunctioning cells or proteins. ViaCytes first product candidates are being developed as potential long-term treatments for patients with type 1 diabetes to achieve glucose control targets and reduce the risk of hypoglycemia and diabetes-related complications. To accelerate and expand ViaCytes efforts, it has established collaborative partnerships with leading companies, including CRISPR Therapeutics and W.L. Gore & Associates. ViaCyte is headquartered in San Diego, California. For more information, please visit http://www.viacyte.com and connect with ViaCyte on Twitter, Facebook, and LinkedIn.

CRISPR Therapeutics Forward-Looking StatementThis press release may contain a number of forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended, including statements made by Dr. Kulkarni and Mr. Yang in this press release, as well as regarding CRISPR Therapeutics expectations about any or all of the following: (i) the safety, efficacy and clinical progress of our various clinical programs including our VCTX210 program; (ii) the status of clinical trials (including, without limitation, activities at clinical trial sites) and expectations regarding data from clinical trials; (iii) the data that will be generated by ongoing and planned clinical trials, and the ability to use that data for the design and initiation of further clinical trials; and (iv) the therapeutic value, development, and commercial potential of CRISPR/Cas9 gene editing technologies and therapies, including as compared to other therapies. Without limiting the foregoing, the words believes, anticipates, plans, expects and similar expressions are intended to identify forward-looking statements. You are cautioned that forward-looking statements are inherently uncertain. Although CRISPR Therapeutics believes that such statements are based on reasonable assumptions within the bounds of its knowledge of its business and operations, forward-looking statements are neither promises nor guarantees and they are necessarily subject to a high degree of uncertainty and risk. Actual performance and results may differ materially from those projected or suggested in the forward-looking statements due to various risks and uncertainties. These risks and uncertainties include, among others: the potential for initial and preliminary data from any clinical trial and initial data from a limited number of patients not to be indicative of final trial results; the potential that clinical trial results may not be favorable; potential impacts due to the coronavirus pandemic, such as the timing and progress of clinical trials; that future competitive or other market factors may adversely affect the commercial potential for CRISPR Therapeutics product candidates; uncertainties regarding the intellectual property protection for CRISPR Therapeutics technology and intellectual property belonging to third parties, and the outcome of proceedings (such as an interference, an opposition or a similar proceeding) involving all or any portion of such intellectual property; and those risks and uncertainties described under the heading "Risk Factors" in CRISPR Therapeutics most recent annual report on Form 10-K, quarterly report on Form 10-Q and in any other subsequent filings made by CRISPR Therapeutics with the U.S. Securities and Exchange Commission, which are available on the SEC's website at http://www.sec.gov. Existing and prospective investors are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date they are made. CRISPR Therapeutics disclaims any obligation or undertaking to update or revise any forward-looking statements contained in this press release, other than to the extent required by law.

CRISPR Therapeutics Investor Contact:Susan Kim+1-617-307-7503susan.kim@crisprtx.com

CRISPR Therapeutics Media Contact:Rachel Eides+1-617-315-4493rachel.eides@crisprtx.com

ViaCyte Investor Contact: David Carey, Lazar-FINN Partners+1-212-867-1768david.carey@finnpartners.com

ViaCyte Media Contact: Glenn Silver, Lazar-FINN Partners+1-973-818-8198glenn.silver@finnpartners.com

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CRISPR Therapeutics and ViaCyte, Inc. to Start Clinical Trial of the First Gene-Edited Cell Replacement Therapy for Treatment of Type 1 Diabetes -...

COVID-19 has been all-consuming. For nearly two years, the world has been focused on the race for vaccines, the pressures on providers, the best testing protocols, and simply staying safe.

COVID-19 also slowed some research efforts, but scientists still managed to seek solutions for many other pressing concerns Alzheimers disease, maternal mortality, and prostate cancer among them that have bedeviled patients for decades.

Below are eight medical advances that may not have grabbed your attention but could ultimately improve the lives of millions.

Assessing a stroke demands a rapid, life-or-death assessment: Is the culprit a clot, which requires a blood thinner, or bleeding in the brain, which requires surgery? Now, a portable MRI device can help make that assessment right at a patients bedside and in much less time than required by a trip to a standard machine.

The Swoop MRI which was created with input from Yale Medicine in New Haven, Connecticut received Food and Drug Administration (FDA) approval in August 2020 and is already at work in several U.S. hospitals.

The new portable machine offers many advantages over its massive cousin, says Yale neurologist Kevin Sheth, MD.

The very strong magnets in regular MRIs bring a lot of challenges, he explains. You need intensive power and cooling, precautions like a shielded room, and a lot of training. If you use a weaker magnet, all those problems go away.

The weaker magnet is effective, according to an August 2021 study, which asked clinicians to identify various cerebral pathologies using Swoop images. The goal is not to be as good as a high-magnet MRI, but to be good enough for clinical decisions, says Sheth, who co-authored the study but has no financial interest in Hyperfine, the Connecticut-based company that produces the machine.

Swoops size its smaller than some refrigerators eliminates the need to move frail patients down hospital hallways. Whats more, its cost around $100,000 compared to $1 million for the bigger machine puts it within reach of hospitals and regions with fewer resources. This could essentially democratize brain imaging, argues Sheth.

Prostate cancer strikes 1 out of 8 U.S. men, and it is expected to take more than 34,000 lives this year alone. When it metastasizes, the disease is almost always incurable, leaving physicians focused only on postponing death and improving patients lives.

A promising new approach has succeeded at both goals and did so among men with an advanced form of the disease whose condition had deteriorated despite receiving standard treatments.

In fact, it more than doubled how long patients lived without their cancer worsening, according to a paper published in September. The study, which followed 831 men in 10 countries for a median of 20 months, compared patients who continued to receive standard care with ones who got the new treatment.

The treatments name is complex: lutetium-177-PSMA-617. But its approach is straightforward: Drive radiation directly into a cancer cell while sparing healthy tissue around it.

The method uses a compound called PSMA-617 to hone in on a protein found almost exclusively in prostate cancer cells, explains Oliver Sartor, MD, study co-lead investigator and medical director of Tulane Cancer Center in New Orleans. Then, a radioactive particle carried by the compound blasts the cancer cells, wherever they are.

Its like a little smart bomb, says Sartor.

In September, the FDA granted the treatment priority review status, according to drug manufacturer Novartis, which funded the study. An answer is expected in the first half of 2022.

Sartor feels hopeful. Ive been working in prostate cancer for more than 30 years, and this is the largest advance Ive ever been associated with.

For more than 5,000 years, sickle cell disease (SCD) has caused untold suffering in people of African descent. In patients with the genetic illness, red blood cells are not round but crescent-shaped like a sickle and can clog blood vessels, depriving the body of oxygen and causing tremendous pain. For a long time, the only cure has been a bone marrow transplant, but new gene-editing techniques now may offer a safe and effective alternative.

In research conducted at Boston Childrens Hospital, scientists used a virus to switch off the gene that triggers cells sickling, according to a January 2021 study. The patients subsequently produced healthy red blood cells and nearly all were able to discontinue the blood transfusions SCD often requires.

One participant used to have transfusions every month but has not needed any in three years, says David Williams, MD, chief of the Division of Hematology/Oncology at Boston Childrens and head of the research team. This has completely changed his life.

The study followed six patients for a median of 18 months and found that the treatment completely halted the diseases more severe symptoms.

Im so happy for my sickle-cell patients. This is a terrible disease, notes Williams.

Next up for Williams is a trial with 25 patients. Meanwhile, SCD researchers elsewhere are studying other gene-editing techniques. All these approaches look promising, and we need a lot more research to determine if one or another is better, Williams says.

This is a very exciting time. In the past, we havent had any particularly good treatments, and now we have several possibilities," he adds.

When a womans uterus fails to contract after childbirth, tremendous blood loss can ensue, possibly leading to an emergency hysterectomy or even death. In fact, postpartum hemorrhage affects 3% to 10% of all childbirths in the United States and causes more than one-third of childbirth-related maternal deaths worldwide.

Treatment options include medications that dont always work and inserting a balloon to put pressure on the uterus much like exerting pressure on a cut that comes with risks and must remain in place for a day.

But providers now have another option.

A new vacuum device aids natural post-birth contractions, putting pressure on leaking blood vessels. The FDA approved the device the Jada vacuum uterine tamponade in September 2020 following a 12-site research study.

The vacuum approach is very logical since its like what the body is supposed to do, says Dena Goffman, MD, the primary investigator at Columbia University Irving Medical Center in Manhattan. Also, the vacuum is used for less time than the balloon roughly two or three hours. For moms, thats a big deal because it makes it easier to breastfeed, get out of bed, and bond with their child, she adds.

The vacuum controlled bleeding in a median of three minutes and successfully treated 94% of participants, according to the study, which was funded by the devices manufacturer, Alydia Health. In comparison, other research puts the balloons effectiveness at 87%.

When a patient has a postpartum hemorrhage and youre the doctor at the bedside, its scary because you know how quickly things can deteriorate, says Goffman. Using this device, when you see the bleeding slowing quickly and you can feel the uterus contracting, its just incredible.

Tearing an anterior cruciate ligament (ACL) the flexible band inside the knee that helps stabilize it can upend a sports career and sideline weekend athletes. Between 100,000 and 200,000 ACL tears occur each year in the United States.

The most effective repair option has been removing the ruptured ACL, harvesting a graft from the shin or elsewhere, sewing that tissue into the knee, and hoping both surgical sites heal well.

In December 2020, the FDA approved a simpler, more natural method: the Bridge-Enhanced ACL Repair (BEAR).

We basically stimulate the ACL to heal itself, says Martha Murray, MD, orthopedic surgeon-in-chief at Boston Childrens Hospital and BEARs creator.

The approach involves placing a protein-based sponge, prepared with some of the patients own blood, between the torn ACL ends. Murray explains that the blood promotes the connection of the two ACL pieces to the sponge and, ultimately, to each other.

So far, the approach has been tested on more than 100 patients. In a May 2020 study, patients and physicians reported that BEAR performed as well as the standard repair and without the graft surgery that can cause ongoing pain or weakness at the donor site. Miach Orthopaedics, which has the worldwide exclusive license for the BEAR implant, has already begun making it available through orthopedic surgeons in the United States.

For Murray, the experience has highlighted the value of serving as a physician-researcher. When youre faced with a patient with a problem and the current solution is imperfect, its great to be able to say, Were working on a better solution. Its incredibly gratifying.

For the first time since 2014, a new obesity medication has hit the market, offering hope to the 78 million Americans who face the many risks of excess weight: cancer, heart disease, diabetes, and complications from COVID-19, among others.

And the new medication semaglutide, also known as Wegovy is significantly more powerful than its predecessors, according to research that helped it garner approval from the FDA in June.

Weve seen 1 to 2 times the amount of weight loss compared to other medications, says Robert Kushner, MD, a researcher at Northwestern University Feinberg School of Medicine who has led semaglutide studies. That's a leapfrog advance.

In fact, semaglutide recipients lost nearly 15% of their body weight on average compared with 2.4% among controls, according to one study of nearly 2,000 patients.

Semaglutide an injectable medication is not entirely new. A synthetic version of a natural hormone that quells appetite, its already used to treat Type 2 diabetes. But the obesity trials, paid for by pharmaceutical company Novo Nordisk, used a much higher dose.

High doses havent been studied long enough to identify long-term side effects, notes Kushner, a paid consultant to Novo Nordisk. But the recent research reported mild-to-moderate gastrointestinal issues that lessened over time.

Now Kushner hopes semaglutide will help spark interest in obesity medications.

Over 40% of U.S. adults have obesity, and the number who are getting a pharmacologic treatment is under 3%, he says. Part of the challenge is educating primary care providers that providing evidence-based obesity care includes consideration of medication."

Randall Bateman, MD, a Washington University School of Medicine in St. Louis (WUSTL) neurologist, is thrilled to have contributed to the first blood test for Alzheimer's disease a devastating condition that affects as many as 5.8 million Americans.

Back in 2017, though, as Bateman geared up to share the discovery that would enable the test, he worried about his peers reaction. After all, scientists were convinced that the blood marker he studied couldnt predict the disease.

But the WUSTL method was much more sensitive and direct than prior approaches. The resultant test called PrecivityAD effectively detects the amyloid plaques that are a hallmark of Alzheimers disease and has proven as accurate as the previously used tools of a spinal tap or positron emission tomography (PET) scan, which are far more costly and complex.

The test, developed by a company called C2N Diagnostics that Bateman co-founded, has been available to physicians since October 2020, when it received approval through a federal lab certification program. It now awaits additional approval from the FDA.

Weve been hoping for a test to diagnose Alzheimers for more than 20 years, says Bateman, WUSTLs Charles F. and Joanne Knight distinguished professor of neurology. Currently, up to half of people with Alzheimers are misdiagnosed.

The road to success in science is paved with hard work and great uncertainty, he adds. Its a real gamble. Youre investing your life in this work, and you hope it will have a positive impact. And then its like, Wow, it worked!

Anger, fear, recurring nightmares, and intense flashbacks are among the many symptoms that can batter patients with post-traumatic stress disorder (PTSD). The condition, which affects about 15 million U.S. adults in a given year, can be extremely difficult to treat.

A potentially groundbreaking PTSD treatment now lies in a seemingly unlikely source: MDMA, better known as the illegal drugs ecstasy and molly that fueled all-night dance raves and caused potentially fatal side effects.

In June, a study in Nature Medicine reported that patients with severe PTSD combat veterans, first responders, and victims of sexual assault and mass shootings, among others experienced significant relief from MDMA.

In fact, two months after treatment, 67% of subjects who received MDMA together with talk therapy no longer qualified for a diagnosis of PTSD. I saw this amazing transformation in patients, says Jennifer Mitchell, PhD, the studys lead author and a University of California, San Francisco, School of Medicine neurology professor.

The treatment involved three eight-hour sessions a month apart during which patients ingested MDMA and processed painful memories and emotions in talk therapy.

MDMA releases a powerful supply of serotonin and stimulates hormones associated with emotional bonding, Mitchell explains. The idea is that it helps patients be open in a way that enables them to connect well with therapists and work through their problems more quickly.

Before the drug can receive FDA approval for PTSD, researchers need to complete one more clinical trial. Even if it succeeds, Mitchell is aware that MDMA still bears stigma from its party drug image.

I hope people are going to be open-minded and look at the data, which included no abuse potential or other serious side effects from MDMA as used in the study. We are talking about use in a controlled, therapeutic situation, she says. Using drugs recreationally is entirely different. Otherwise, people would come back from [the art and community event] Burning Man cured of their psychological issues.

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8 medical advances you may have missed during COVID-19 - AAMC

Editor's Note: Some of the articles described below are not yet available at the PNAS site but are scheduled to be posted this week.

A team from the US and Mexico looks at ties between the gut microbiome and features such as diet, geography, host genetics, and neutral processes like passive dispersal and ecological drift in herbivorous woodrats from seven Neotoma species and more than two dozen wild populations from the southwestern US, along with wild-caught woodrats moved into captive settings. With metabarcoding-based sequencing on microbiome and dietary plant samples, the researchers tracked the effects of host phylogeny and other factors on the gut microbiome, uncovering species-specific gut microbial shifts in captive woodrats. "Although diet and geography influenced natural microbiome structure, the effects of host phylogeny were stronger for both wild and captive animals," they report, adding that the host genetic influence tended to become more pronounced in captivity, while dietary effects waned.

Maternal cannabis use during pregnancy appears to coincide with altered immune-related gene expression in the placenta at birth as well as elevated levels of hair cortisol, anxiety- and hyperactivity-related behaviors, and heart rate variability in three to six-year-old children resulting from the pregnancies, according to another paper in PNAS. Using placental RNA sequencing, behavioral surveys, hair hormone testing, and other approaches, investigators at Icahn School of Medicine at Mount Sinai and City University of New York followed more than 300 mother-child pairs over time, comparing results for children born to 71 mothers who used cannabis during pregnancy and 251 non-users. "Overall," they write, "our findings reveal a relationship between [maternal cannabis use] and immune response gene networks in the placenta as a potential mediator of risk for anxiety-related problems in early childhood."

A Columbia University-led team describes a gene-based testing strategy called GeneScan3DKnock that relies on chromatin immunoprecipitation sequencing-based long-range chromatin interaction profiles, gene region-based testing, and a statistical knockoff genotype method. "Through simulations and applications to genome-wide association studies (GWAS) and whole-genome sequencing data for multiple diseases and traits, we show that the proposed test increases the power over state-of-the-art gene-based tests in the literature, identifies genes that replicate in larger studies, and can provide a more narrow focus on the possible causal genes at a locus by reducing the confounding effect of linkage disequilibrium," the authors write, adding that "incorporating genetic variation in distal regulatory elements tends to improve power over conventional tests."

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PNAS Papers on Woodrat Microbiome, Maternal Cannabis Use, Gene-Based Testing - GenomeWeb

Broadcast Date:December 16, 2021Time:9:00 am PT, 12:00 am ET, 18:00 CET

The retina is a multilayered, highly heterogeneous neuronal tissue with intricate cellular interactions. Single-cell multiomics allows us to take steps toward understanding the biology of this complex tissue through the ability to identify and characterize all cell subtypes. Thus, a single cell transcriptomic and epigenomic atlas of the retina can be a valuable resource in opening new opportunities for future mechanistic studies.

In this GEN webinar, our distinguished presenter, Dr. Rui Chen, will discuss how his team at Baylor College of Medicine took on the complexity of gene expression and regulation in the human retina by generating a multiomic cell atlas at single-cell resolution. snRNA-seq data from over 250,000 nuclei and snATAC-seq data from over 150,000 nuclei were combined to form a highly comprehensive atlas, resulting in the identification of over 60 different cell types at a sensitivity of 0.01%. In addition, integrative analysis of this data showed 70,000 distal cis-element gene pairs, a majority of which were cell type-specific and had been overlooked in the previous investigation via bulk profiling. eQTLs from the bulk analysis were combined with the multiomic single-cell atlas to yield candidate causal variants for targeted genes within the context of cell-type data. Taken together, this comprehensive single-cell atlas enables systematic, in-depth molecular characterization of cell subtypes in the human retina.

A live Q&A session will follow the presentations, offering you a chance to pose questions to our expert panelists.

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Single Cell Multiomic Atlas of the Human Retina: An Integrative Analysis - Genetic Engineering & Biotechnology News

A cell-by-cell map of the mouse iris lays the foundation to study eye disorders and engineer cell therapies to replace damaged eye tissue.

If vision science were a movie, the iris would be a supporting actor. It doesnt get as much limelight as the retina, the eyes light-sensing tissue. And its not as high-profile as the lens, which can cloud with cataracts as people age.

Though the iris the colorful tissue that rings the pupil comes in a rainbow of showy shades, for most scientists, it was not the main attraction in the eye, says Jeremy Nathans, a Howard Hughes Medical Institute Investigator at Johns Hopkins University School of Medicine. In fact, he has spent most of his career studying the molecular biology of the retina.

The basic biology of the iris had kind of languished, Nathans says. Not anymore. He and his colleagues Jie Wang and Amir Rattner have now developed a high-resolution map of the mouse iris that distinguishes individual cells by the activity of their genes. The trio was motivated by the beauty of the iris, the diversity of iris structure in different animals, and its importance for vision, Nathans says.

His team identified eight types of iris cells and uncovered new information about iris cell development and the genes that switch on when the pupil dilates, they report November 16, 2021, in the journal eLife. The researchers cell-by-cell map of the iris could one day help identify genes involved in iris-related eye disorders. The work could also guide engineering of healthy iris cells used to replace diseased cells elsewhere in the eye.

This is the first comprehensive and in-depth study of mouse iris tissue, says Bo Chen, an eye researcher at the Icahn School of Medicine at Mount Sinai who wasnt involved in the research. Its an important foundational paper.

The iris is a thin sheet of tissue, roughly blueberry-sized in humans, that appears in shades from icy blue to hues of deepest brown. A hole at the iriss center, the pupil, expands and contracts to control the amount of light entering the eye.

In mice, the iris contains about 30,000 cells. Nathans and his team examined thousands of these cells, looking inside nuclei to catalog which genes were turned on. This let the team identify different cell types based on their active genetic material and the location of the cells in the iris.

The mapping effort presented Nathans and his team with a surprise: the iris sphincter muscles that form a ring around the pupil come in two cell types, as do the stroma cells that act as fillers between other cells. Until now, scientists didnt know that these cellular subtypes existed, Nathans says.

Next, the researchers wondered if iris cells genetic activity might change when the pupil expanded or constricted. The team compared cells of a relaxed iris with those experimentally dilated or constricted using eye drops.

When the pupil widened to let in more light, iris cells squished together, like the folds of a zig-zag window shade pulled all the way up, Nathans says. This compression switched on a new set of genes a response that may be triggered by mechanical stress to the cells, he says.

Those changes occurred mainly in iris muscle cells that dilate the pupil, and they happened fast within 30 minutes of administering the eye drops. Chen says that the rapid change in gene activity in a healthy iris is a novel finding. Usually, he says, I only think of this happening in response to an injury or disease. Nathans and his colleagues suspect that the gene activity changes help the iris transition from a relaxed to a dilated state.

The teams research also demystifies the origin of iris cells, a controversial topic in the vision science field. You might think a bunch of cells in the embryo organize themselves in the right place and become the eyeball, Nathans says. But its not that simple. The researchers traced the developmental lineage of iris cells and discovered that many originate from the neural crest. This transient group of cells migrates to various parts of the body and generates cells in different organs.

Although much about the iris remains unknown, the researchers hope their work will inspire similar investigations in humans. The findings, Nathans says, offer a satisfying and higher level of insight into how the eye is built.

###

Citation

J. Wang, A. Rattner, and J. Nathans. A transcriptome atlas of the mouse iris at single cell resolution defines cell types and the genomic response to pupil dilation. eLife. Published online November 16, 2021. doi: 10.7554/eLife.73477

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Map of Mouse Iris Offers New Look at the Eye - Howard Hughes Medical Institute

Cancer is, far and away, the most widely researched biological or biomedical topic, and for a good reason. In the United Kingdom, cancer will affect 1 out of every 2 people at some time in their lives.

However, a new analysis of the PubMed library of biomedical research literature finds that the search for connections between genes and cancer has created an overabundance of reported associations, making new research even more difficult.

At this point, almost all human genes have a connection with cancer in one way or another.

According to the article, which appears in Trends In Genetics, the PubMed library holds at least one paper on 17,371 human genes. Of these, 87.7% mention cancer in at least one publication.

Of the 4,186 genes that are the subjects of 100 or more PubMed articles, only three genes have no associations with cancer.

The author of the new paper, Dr. Joo Pedro de Magalhes of the University of Liverpool in the U.K., writes, An incredible 24.4% of all publications associated with genes in PubMed mention cancer.

Dr. de Magalhes suspects this wealth of associations has to do with how relatively easy it is to perform cancer research from a genetic perspective:

Compared with other common diseases, such as heart or neurodegenerative diseases, cancer is also seemingly more straightforward to study, given the wide availability of materials, such as cell lines.

In other words, the experimental methods necessary to study cancer seem to have lower technical limitations compared with many other disease scenarios.

The many connections cited in research imply that nearly all genes are involved in cancer, which is improbable, asserts Dr. de Magalhes.

Associations are not necessarily evidence of actual causal relationships, so much of this research may amount to unhelpful statistical noise that makes productive analysis more difficult.

The analysis cites several ways in which the glut of reported associations inhibit worthwhile research:

Dr. de Magalhes writes that researchers should be mindful of the bias toward seeking gene associations for cancer, considering it in their discussions with other researchers, and in appraising their work:

In genetics and genomics, literally everything is associated with cancer. If a gene has not been associated with cancer yet, it probably means it has not been studied enough and will most likely be associated with cancer in the future.

Says Dr. de Magalhes, In a scientific world where everything and every gene can be associated with cancer, the challenge is determining which are the key drivers of cancer and more promising therapeutic targets.

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Is every gene associated with cancer? - Medical News Today

When Misty Lovelace was a baby, her eyes were drawn to the light.

She could not focus on faces, only sources of light. Her grandmother Cynthia Lovelace, who would become her main caretaker, suspected vision problems.

By age three, Misty was diagnosed as legally blind. School systems struggled with how to handle her. She was intelligent and intuitive, but people would treat her as if she had a learning disability.

As she got older, Misty started carrying a lamp with her at school. She would put her lunch under it to see what she was about to eat. She learned Braille and used a cane to navigate. When she visited the doctor for checkups, her prognosis seemed to get worse.

"[The doctor] would take her little face and he'd put his hands on her face and say, 'Misty, I'm so sorry, there's nothing more we can do for you, honey. You're going to wake up in the dark one day,'" Lovelace recalled.

"It'd be like looking through a tunnel. And all of a sudden that tunnel goes out."

Misty has Leber congenital amaurosis, or LCA, a genetic disorder that often manifests at a young age, causing vision loss. In Misty's case, and for approximately 1,000 to 2,000 other people in the U.S., the disease is caused by mutations in a gene called RPE65.

Misty Lovelace, age 4

Courtesy of Misty Lovelace

What Misty didn't know as her vision got darker was that a scientist and doctor duo at the Children's Hospital of Philadelphia had already spent years working on a gene therapy for her disease.

The gene therapy, which would eventually become known as Luxturna, was not an overnight success. Decades of research and setbacks preceded the landmark U.S. approval of Luxturna four years ago, the first the Food and Drug Administration had ever granted to a gene therapy for an inherited disease. While Luxturna is not a cure for blindness, treatment has brought sustained improvements in sight, particularly in lower light, for several patients who spoke with BioPharma Dive. As a result, they've needed less help in educational and social environments, and have more independence.

Their experience with Luxturna is proof of gene therapy's potential as well as its limitations. As the first gene therapy of its kind, Luxturna also holds lessons for a field that's grown dramatically since its December 2017 approval.

Lovelace said she never stopped trying to find a way for Misty to regain her sight. The possibility gave her hope as she watched her granddaughter adjust to a life that, for her, was almost in total darkness.

A call from Jean Bennett was a lifeline.

Bennett and her husband, Albert Maguire, met at Harvard Medical School in the early 1980s. The two began researching gene therapy together, attempting to treat blindness in mice. Soon they were testing their approach on Briard dogs with the same defective RPE65 gene that causes LCA in humans.

By 2007, their gene therapy was ready to be tested in people a high-stakes proposition for a field that had largely been shut down nearly a decade before. After 18-year-old Jesse Gelsinger died during a 1999 gene therapy study, many questioned whether such research was safe. The success Bennett and Maguire had with Luxturna was a large part of gene therapy's journey back to the forefront of biomedical research, aided by improvements in how such treatments are designed and delivered.

Testing began at the Children's Hospital of Philadelphia, where Misty was recruited as a study participant. At age 12, she took her first flight out of Kentucky and received the gene therapy in both eyes, starting with the one with worse vision.

"We didn't know if I was going to get worse, stay the same or get better," she said. "But in my mind, I was going to be completely blind by 18, so what's knocking a couple years off?"

The improvements were almost immediate, however. Lovelace recalls her granddaughter commenting on her wrinkles as soon as the eye patches from the procedure were removed. Misty could make out the fine hairs on the manes of horses, her favorite animal and hobby. Rainbows and stars, though, she found underwhelming.

More than eight years later, Misty says she's grateful she "took the leap," attributing to Luxturna her independence and ability to pursue a career as a horse trainer.

Misty Lovelace

Courtesy of Misty Lovelace

Results from early participants like Misty led to the formation of Spark Therapeutics and a larger clinical trial in Pennsylvania and at the University of Iowa that gave the biotech company the evidence needed to approach the FDA.

On Oct. 12, 2017, a panel of scientists and FDA advisers unanimously endorsed the gene therapy, with Misty one of several individuals who shared their stories. The FDA followed with an approval on Dec. 18, a gene therapy milestone.

"For many of us, this is exactly the type of disease that we hoped that gene therapy would someday treat," Wilson Bryan, director of an FDA office tasked with reviewing Luxturna, said at the time. The next year, Luxturna was also approved in Europe.

It's unclear how many people have received Luxturna since. A Spark spokesperson told BioPharma Dive the company does not disclose that information. In 2019, the company told the Philadelphia Business Journal it had shipped 75 vials of the gene therapy in its first year post-approval. (One vial is used per eye.)

Spark is now owned by the Swiss pharmaceutical company Roche, which does not disclose sales of Luxturna. In February, however, Roche reduced the accounting value of Luxturna, citing "reduced sales expectations."

Luxturna consists of one hundred and fifty billion copies of the corrected RPE65 gene encoded into modified viruses, which are delivered into the eye via about 0.3 milliliters of liquid. Those few drops are injected underneath the retina and, over the course of a week, the viral particles shuttle the functional gene into the patient's eye cells. Once inside, the gene instructs the cells to produce a protein that's otherwise missing, helping restore visual function.

Vials of Luxturna

Spark Therapeutics

"This is not a cure," said Jason Comander, a physician at Massachusetts Eye and Ear in Boston who has administered Luxturna. "It will not make your vision normal," he added, "and there's a small chance that it could hurt your vision." Comander consults with other drugmakers and in 2019 received a nominal amount from Spark.

Luxturna also benefits each patient differently. Comander said the vast majority gain some night vision, while others report improvements in central or side vision. Some see more substantial improvements one of his patients was able to see in up to one thousand times dimmer light than in pre-surgery exams. Many have been able to walk without canes and read without using Braille after surgery.

Their vision isn't perfect, however. Some recipients, Misty included, are still considered legally blind and unable to drive. How long the benefit of gene therapy treatment will last is still unclear, though a recent study co-authored by Maguire and Bennett indicated "improvements were maintained up to 3 to 4 years" after Luxturna.

Comander, who was in his residency while Luxturna was tested, said seeing Maguire administer the therapy affirmed his decision to go into the practice. Now, Comander has done close to a dozen surgeries; his youngest patient was 4 years old at the time of treatment and his oldest was in their 30s. While younger patients saw greater improvements, each patient's eyes functioned better in lower light following treatment.

For Comander, Luxturna was an inspiration, one that he said has helped fuel greater interest in gene therapy. "Many careers have been dedicated to expanding on the success of Luxturna, and it's made a huge difference in the field," he said.

Since Luxturna's clearance, Novartis won FDA approval in May 2019 for a spinal muscular atrophy treatment known as Zolgensma, making it the second gene therapy for an inherited disease available in the U.S. A handful of other gene therapies are in late-stage testing and, behind them, are an expanding pipeline of experimental medicines for a constellation of genetic conditions. In 2020 alone, the FDA received more than 230 applications from cell and gene therapy developers to begin clinical trials, the head of the agency's biologic drugs division said earlier this year.

Gordon "Creed" Pettit was one of the kids who couldn't get into clinical trials for Luxturna. His mother, Sarah St. Pierre-Pettit, brought him from Florida to the University of Iowa a number of times. But he couldn't get through the tests needed to qualify him for treatment.

From there, it was a waiting game until Luxturna's approval. Soon after the FDA's decision, Pierre-Pettit brought Creed to Audina Berrocal at the Bascom Palmer Eye Institute in Miami.

Gordon "Creed" Pettit and Audina Berrocal, the surgeon who administered Luxturna to him.

Photo courtesy of Sarah Pierre-Pettit

Creed was Berrocal's first Luxturna patient. As a pediatric retina specialist, Berrocal said Spark sought her out in the fall of 2017. To date, she's performed a dozen surgeries, all of which have yielded positive results.

"Of all the things I've done in my career, this has been the most amazing and the most rewarding in the sense that we are changing the genetics, the DNA of a person, and we're allowing them to do things that before they couldn't do," Berrocal said. Berrocal consults with other drugmakers and has contributed to published research on Luxturna. In 2018 and 2019, she received nominal payments from Spark.

But treatment, even when positive, can come with adjustments, too. In Creed's case, he was overwhelmed by the sudden change, at first telling his mother he wished he had his old eyes back.

With time, however, Creed has started challenging himself more. "I think most of the gains were at the beginning," Pierre-Pettit said. "Whatever Luxturna did is done. But now that he finally feels confident with himself, he's putting Luxturna to the test now."

For Creed, that means being more social and inquisitive about the world around him. Now 12 years old, he hasn't mentioned wanting his old eyes back for years.

"It's still almost like a new kid every day, like a new baby that sees something new," his mother said.

From a young age, Luke Ward told his mother, Stephanie Joachim, about his dream of playing soccer. But the sport as well as many other daily tasks seemed out of reach.

His vision problems were apparent from birth. While his twin sister could track people with her eyes, Luke stared only at sources of light. When he started walking, he needed to put his hands out to stop himself from running into walls.

Genetic testing revealed Luke had LCA. His doctor said he'd be legally blind by kindergarten. Around the same time, Joachim read an article about Luxturna, but was too late to get Luke enrolled in clinical testing. By the time the FDA approved the therapy, the family had already decided that Luke was getting Luxturna.

Luke Ward with his twin sister, Leia.

Courtesy of Stephanie Joachim

But Joachim was anxious after learning Luxturna's price tag of $425,000 per eye. "I was just flabbergasted and I was like, 'You know what, it's fine. We have the best health insurance,'" she said.

To the family's disappointment, and as other Luxturna patients have experienced, insurance denied the request and cited the therapy's then "newness" as a reason.

At some point in the process, however, Luke's file crossed the desk of an anonymous person who was "so moved from Luke's story and from Luke's pictures, he volunteered to pay for Luke's surgery," Joachim said.

Luxturna's cost was criticized when the therapy was approved and has remained an issue within the patient community since. Shortly after the FDA gave its OK, Spark announced a program with health insurer Harvard Pilgrim and affiliates of Express Scripts, through which the company agreed to pay rebates if the drug doesn't help patients meet certain thresholds.

In a statement to BioPharma Dive, Spark said it offers a "range of patient services and payment models to help navigate and support access" to Luxturna, but did not respond to questions on the number of times rebates have been paid.

Luke Ward

Courtesy of Stephanie Joachim

"Parents shouldn't be paying for this out of pocket," Berrocal, who was also Luke's surgeon, said.

Berrocal told Luke he's the "poster child for Luxturna," Joachim said. He can play sports with his twin sister, including soccer and tee-ball. He started kindergarten this year and has no issues seeing the whiteboard. He still has visual impairments, though, including his peripheral vision. His mother says they keep their shoes tucked out of the way in the house to prevent Luke from tripping.

Four years after its approval, Luxturna continues to be sought out by patients. Joachim says she's received messages from people in Spain, South Africa and the U.K. inquiring about Luke and his progress.

And as Luxturna keeps working, other drugmakers hope to replicate its success. The eye, in particular, is the focus of many gene therapy developers, as it's easy to access and targeting it doesn't carry as many safety risks as other organs. Novartis, which sells Luxturna in Europe, AbbVie, Biogen and Johnson & Johnson are all exploring gene therapies for the eye.

Research into gene editing is advancing as well. In September, Editas Medicine shared preliminary results from the first trial testing a CRISPR gene editing treatment that does its work inside the body. Treatment appeared safe, although the efficacy results were mixed, with several patients experiencing little improvement in vision. The treatment uses CRISPR editing to restore the function of eye cells in people with another form of LCA known as type 10.

Berrocal believes Luxturna represents the beginning of what genetic medicine can offer to patients with many inherited diseases, not only those of the eye.

"20 years from now, we could look back and say, 'Oh my god, that was so rudimentary. Look how much you have advanced,'" she said. "But we have to start somewhere, right? And in 2021, this is what we have, and it's working."

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Years later, a first-of-its-kind treatment shows the power, and limits, of gene therapy - BioPharma Dive