It’s easy to forget that change takes time.

Drugmakers and industry organizations have launched a wave of diversity, equity and inclusion efforts over the last decade, but in some respects, it seems like the needle has barely budged. Women remain vastly underrepresented across biotech’s highest ranks, and recent data suggest slow progress.

Until you meet some of the women leading the push. They’ve created their own networks, empowered other female leaders to launch companies, filed court briefs and spoken up against injustices. They’re also behind some of the industry’s most cutting-edge science, finding new applications for mRNA, working through solutions to cell therapy’s greatest challenges, reviving underserved areas like antibiotics and women’s health, and exploring new frontiers in diagnostics and decentralized trials. Their contributions to medicine and to the women of future generations are immeasurable.

For the fifth consecutive year, we’re pleased to introduce you to 20 exceptional women in biopharma R&D who have dedicated their careers to making change happen, however long it takes. — Amber Tong and Nicole DeFeudis

Sangeeta Bhatia: Serial entrepreneur empowers other women to launch their own companies

Startled by an informal survey that suggested it was rare for women in biology at some of the country’s top universities to start biotech companies, MIT’s Sangeeta Bhatia teamed up with colleagues to conduct her own research in 2020.

She found that, anecdotally, the women on MIT’s biology faculty were rarely asked to co-found companies with their male colleagues, and it was more difficult for women to raise seed money than men. Less than 10% of the 250 startups founded by MIT professors at the time were launched by women.

In 2020, Bhatia and colleagues Susan Hockfield and Nancy Hopkins created the MIT Faculty Founder Initiative to empower more women at MIT to start their own biotech companies. When Bhatia launched the first biotech out of her lab, she wrote the business plan after her one-year-old went to sleep at night. Her daughters are 16 and 20 now, and she’s on her seventh startup.

“My advice for women and men is to develop a really deep skill set that you can bring to bear on a problem that you’re passionate about,” she said.

One of Bhatia’s early passions was tackling a challenge that continues to vex scientists working on difficult-to-treat diseases such as NASH, or non-alcoholic steatohepatitis: the need for biopsies to diagnose or measure progression of disease, which are often cumbersome.

Glympse Bio spun out of her lab in 2015 with $6.6 million in seed money and a minimally invasive experimental diagnostic for detecting NASH. The initial idea was to inject patients with a cocktail of nanomaterials that are activated by a disease-associated enzyme. When they encounter those enzymes at a particular stage of disease, they give off synthetic biomarkers, which can be detected in the urine.

The team has since riffed on their minimally invasive biopsy tech, developing an inhalable breathalyzer version as well as a liquid biopsy version that could be used to detect disease with a simple blood draw. Their lead candidate in fibrotic diseases has completed a Phase I trial, and the team is working on another candidate to detect and monitor liver cancer.

Right before the pandemic, Bhatia sat down for lunch with one of Glympse’s investors who asked, “What else do you have?”

Bhatia told the investor about more than two decades of research she conducted with Boston University’s Christopher Chen around tissue therapeutics. Their company Satellite Bio emerged from stealth in April 2022 with $110 million to create implantable tissue therapeutics with the goal of repairing, restoring or replacing dysfunctional or diseased tissue or organs in patients with difficult-to-treat diseases. The earliest prototypes look like soft contact lenses that would be implanted by a minimally invasive surgery.

When asked how she decides whether science is ready to leave the lab, Bhatia compared it to a plant that has outgrown its pot: “They’re thriving and they need a bigger pot.” Her two latest startups, Matrisome Bio and Port Therapeutics, are “in pseudo-stealth” and she’s currently working on two additional stealthy companies in therapeutics and diagnostics.

The MIT Faculty Founder Initiative is also getting snug in its pot. During the pandemic, the group ran a “boot camp” featuring Zoom conversations with notable entrepreneurs such as Nobel laureate Carolyn Bertozzi and insitro’s Daphne Koller. Around 500 people signed up across eight events. The group has since launched other programs such as the “Future Founders Prize Competition,” which awards entrepreneurs who develop and pitch their ideas to a selection committee, and has begun collaborating with other universities.

“I’m really passionate now about teaching other women, academic entrepreneurs in our ecosystem, because we’ve learned that there are not enough of them,” Bhatia said. — Nicole DeFeudis

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Jennifer Brogdon: CAR-T expert spearheads next-gen platform

After studying immunology at Duke in grad school, Novartis’ Jennifer Brogdon realized that she “didn’t want to just do science for the sake of science.”

Brogdon went on to Yale for her postdoc and built up experience understanding preclinical models.

“I was surprised that there were not that many immuno-oncology opportunities at the time, not even that many immunology opportunities,” she said. “And I thought, well, this doesn’t make sense, because the immune system is the whole reason why we either don’t have disease or we do have disease many times.”

By 2011, Brogdon, who’s now head of cell therapy research at the Novartis Institutes for BioMedical Research, was working with early CAR-T cell treatment partners at the University of Pennsylvania. That collaboration led to Novartis’ lymphoma treatment Kymriah (tisagenlecleucel), which pulled in more than $500 million last year.

Brogdon’s team was visiting Penn in 2012 to discuss a potential research collaboration the day they learned that 7-year-old Emily Whitehead — the first child treated with a CAR-T therapy — was cancer-free.

“The day that she learned her cancer was gone was when we were actually visiting Penn talking about what a research collaboration could look like,” Brogdon said.

That was just the beginning of Novartis’ work in cell therapies. Brogdon has spearheaded a next-generation platform called T-Charge, which the company says can boost responses while speeding up the manufacturing process. Her team has also begun exploring the use of CAR-T to treat autoimmune diseases.

Novartis says one T-Charge therapy in the pipeline, an autologous CD19-directed CAR-T cell therapy called rapcabtagene autoleucel (YTB323), can be manufactured in less than two days. The company said in February that it’s evaluating the candidate in high-risk large B-cell lymphoma patients in the first line-setting.

As far as how she sees the CAR-T space maturing, Brogdon added, “I’m hopeful and optimistic that we’re going to start to see some breakthroughs in the solid tumor space. I think we’re starting to see some early signs of that get published.”

In terms of her advice to other female scientists dealing with an overwhelmingly male-dominant field, Brogdon said, “To most women out there, you know, think about your capabilities and expertise you bring to the table and remain confident in that, and always lean into where that strength and expertise comes from, and use that as a point of challenging and bringing forward ideas and new opportunities to help push and sway and influence others.”

“What brings you energy?” she added. “Make sure that you’re showing up as your best self and taking time to re-energize.” — Zachary Brennan

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Kathryn Penkus Corzo: COO of cell therapy startup talks manufacturing and access

Kathryn Penkus Corzo landed at bit.bio back in 2021 as chief operating officer, on the heels of the biotech’s $103 million Series B and after a multi-decade run at large pharma companies. Now 18 months in, she is dedicating the next part of her career to cell therapies.

With a background in oncology, she was the former program head for Sanofi’s isatuximab, a CD38 antibody that was approved by the FDA in 2020 for third-line multiple myeloma and is now branded as Sarclisa.

“I always believe that we could have probably done the development in probably half of the time,” Corzo told Endpoints News.

There are tradeoffs. Big Pharma companies have enormous resources, and thousands of coworkers who can offer expertise. But she said she enjoys the leanness of a smaller organization.

“When you’re in a startup, you have to build that expertise internally with just core capabilities,” Corzo said.

At bit.bio the company has focused on programming cells and is looking to address challenges around cell therapies.

“The biggest bottleneck I think all of us have faced for cell therapy development is around the manufacturing of the cells — and it’s the access to cells that are consistent, that are active, that function, that persist, that home to a specific — whether it’s target for tumor, or for regenerative medicine,” Corzo said.

But helping more patients means improving sourcing cells, reducing cost and addressing hypoimmune challenges.

“I’d love to dedicate this next part of my career [to] enabling the ability to impact millions of patients with cell therapies,” Corzo said. — Paul Schloesser

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Kathy Fernando: Pfizer executive seeks to build on pharma giant’s role as a partner

To Pfizer’s Kathy Fernando, the pandemic highlighted the importance of collaboration between pharma and biotech. The record-fast development of her company’s Covid-19 vaccine Comirnaty, after all, wouldn’t have been possible without its German mRNA partner BioNTech.

Now she’s leading efforts to expand Pfizer’s role as a partner.

Fernando heads Pfizer CentreOne and the recently launched Pfizer Ignite, the pharma giant’s CDMO arm and end-to-end development and clinical services program, respectively. The scientist by training has long been interested in immunology and infectious disease, something she dove into as one of Drew Weissman’s first grad students at UPenn after getting her bachelor’s in India. Near the end of her PhD, she took a particular interest in the intersection of science and business, leading her to consulting work at Deloitte before joining Pfizer in 2014. She has since worn multiple hats, including head of mRNA scientific planning just before moving to her current positions.

Pfizer Ignite launched in the spring of 2022, teaming up with biotechs in the oncology, inflammation or immunology spheres to assist with a variety of services from R&D to manufacturing in exchange for a fee. Fernando describes it as “connect[ing] the dots across innovation” to unlock new science faster.

“If I take the example of Covid, each company brought something distinct and complementary to the table and I don’t think either company could have achieved what we ended up doing together in isolation,” she said.

Pfizer is now focused on a specific subset of the ecosystem, mainly searching for partners that meet a “high innovation bar,” are scientifically promising and bring ideas that fall within its R&D areas of focus, Fernando said.

“It’s mostly no strings attached in some sense, but we think by working with them to advance innovation, we form a foundational relationship with the companies so that if and when they decide to partner their assets, we’re top of mind to be the beneficiaries,” she said.

Fernando sees biotech collaboration becoming increasingly essential, adding that Pfizer’s experts can offer highly specialized advice on things like clinical trial design. She hopes to scale Ignite, while forging manufacturing and development relationships earlier under Pfizer CentreOne.

“Often companies have a secret sauce, they have great innovation in a particular area, but they really (need to) build out end-to-end capabilities. And that’s what Pfizer brings to the table,” she said. — Tyler Patchen

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Yvonne Greenstreet: Alnylam CEO has high hopes for next wave of RNAi therapies

Alnylam has long prided itself on conquering delivery of nucleic acid-based drugs. But earlier this year, it reported a new feat: showing that a single injection of an experimental RNAi therapy can knock down a protein linked to Alzheimer’s disease over a prolonged period of time.

It marked the company’s first foray into diseases of the brain, a move led by CEO Yvonne Greenstreet, who took over from longtime chief John Maraganore almost two years ago.

“Roughly the first half of our history was focused on the research and discovery to make RNAi work in the liver,” she told Endpoints. The new results, she said, open the door to creating a new class of medicines for silencing genes implicated in central nervous system disorders.

It was the latest of many breakthroughs Greenstreet has overseen in nearly seven years at Alnylam. She joined in 2016 as chief operating officer when the company was still trying to prove that it could make medicines with synthesized RNA molecules called small interfering RNAs to halt the production of disease-causing proteins.

“We hadn’t yet had a Phase III readout, there was an embryonic commercial team, we had a little over 300 employees, and we’d only just opened our very first international office in the UK,” she said.

Alnylam’s first FDA approval came in 2018, for a rare disease that affects peripheral nerves. The company had happened to call in its sales force for training, Greenstreet recalled, which made for a memorable moment of excitement and celebration in the room.

Her employment also coincided with Alnylam centering on diversity, equity and inclusion efforts. More recently, she said, the biotech has made more concerted efforts with metrics, survey feedback and policies in addition to creating an environment where employees can speak up.

“Our DEI efforts are grass-roots and our employees appreciate it as being authentic,” she said.

With over 2,000 employees working across 23 countries, Greenstreet hopes the next wave of Alnylam therapies can touch tens of thousands, if not millions of people in the next few years.

“I believe that there will be 20 different types of diseases that can be treated with these technologies and that we will write new chapters in medical textbooks,” she said. — Amber Tong

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Rachel Humphrey: In pursuit of the ‘unmistakably brand new,’ Normunity CEO pushes the boundaries in I/O

It was a bit like slicing deli meat.

Rachel Humphrey’s first summer job was processing skin biopsies in prominent dermatologist Bijan Safai’s lab at Memorial Sloan Kettering. She cut thin slices of frozen tissue onto a slide with a cryostat — a machine that works much like a commercial meat slicer — before staining them so they could be seen under a microscope.

It was the mid-1970s, and the clinic had seen an influx of men with a rare kind of skin cancer called Kaposi’s sarcoma. In the early days of the AIDS epidemic researchers had yet to figure out that a viral disease was spreading that could deplete people’s immune systems and cause some of them to develop cancer.

“I had no idea what I was working with,” Humphrey said.

But it was Humphrey’s first exposure to how the immune system and cancer are closely intertwined. Since then, she has built her career as an immuno-oncology expert and currently leads Normunity, an early-stage startup co-founded by Yale professor Lieping Chen, whose research paved the way for PD-1/PD-L1 immunotherapy to become a cornerstone of cancer treatment.

After completing medical school at Case Western and residency at Johns Hopkins, Humphrey started her career in Big Pharma. She began at Bayer, leading the development of Nexavar — a liver, kidney and thyroid cancer drug.

It was there she first came across Medarex’s MDX-010, which would later become Yervoy. But Bayer passed on the opportunity, so Humphrey moved to Bristol Myers Squibb, which was weighing a potential deal with Medarex.

“It was not an easy sell,” she said. “Because immunotherapy had a small group of believers. Very small.”

It took 18 months for that agreement to get sealed, Humphrey said. By the time Bristol Myers signed in November 2004, Humphrey’s team already had an entire Phase III program written. She would go on to lead the development of the drug, which would become the first approved immune checkpoint inhibitor in 2011, ushering in a new era of cancer treatment.

After the launch of Yervoy, Humphrey made the pharma-to-biotech jump, joining Mirati in its infancy as chief medical officer. She later made a brief return to pharma, before becoming CMO of CytomX, a position she held for four and a half years.

Humphrey said she is always in pursuit of what she calls the “unmistakably brand new.”

“What I love to do is go to places others haven’t gone or are afraid to go, or don’t believe in,” Humphrey said. “The small biotech is a great place to do that, where the setup is designed to ask novel questions.”

Now at Normunity, which combines the words “normal” and “immunity,” Humphrey and team are developing antibodies that they hope can break down the wall standing between the immune system and tumor cells, so the body’s normal immune system or an immunotherapy can go in and clear out the cancer.

As CEO, Humphrey splits her time between her home in Boston and New Haven, CT, where Chen’s lab at Yale is located and which she visits every Tuesday.

As a seasoned biopharma executive, Humphrey places a lot of emphasis on mentoring young women. She pointed to a recent instance where she was invited to brunch with six early career women by a CEO out of MIT who was heading her own startup. “And the brunch was long over and the sun was long-setting by the time we headed out,” she said. “And I’ve had additional meals, either already or set up with all of them.

“​​It makes it easy to picture women CEOs when, in your mind’s eye, you know exactly what they look like,” she added later on. “Bright, talented, eager, excited, capable women who know how to bring new medicines to patients and value to stakeholders.” — Lei Lei Wu

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Elizabeth Laws & Marcie Ruddy: Two scientists helped turn Dupixent into a mega-blockbuster, taking risks in following the science

Dupixent’s blockbuster status was far from certain when it was first approved in 2017 for atopic dermatitis.

“A lot of people were saying, ‘It’s just dry skin,’” Elizabeth Laws recalled. But over the next few years, Sanofi’s Laws and Regeneron’s Marcie Ruddy became two key scientists who rapidly built Dupixent into the “pipeline-in-a-product” it is now, steering the drug’s development through some surprising clinical wins.

More than 600,000 patients have now been treated with the drug, and its sales this year are expected to hit €10 billion (about $11 billion), according to the companies. But before it became a blockbuster, the two women were tasked with figuring out where to take Dupixent beyond its first indications in eczema and asthma. They blazed a development path focused on biological science over indications, Laws said, which included convincing their bosses to take risks on their ideas.

Their strategy was based, in part, on bringing the drug directly into Phase III studies when they felt confident in the science. Dupixent regulates an immune response called type 2 inflammation by blocking two molecules called IL-4 and IL-13. To figure out where to take the drug next, Laws and Ruddy scoured the disease universe to look for conditions associated with type 2 inflammation.

“We did a couple of really aggressive moves, really kudos to both of us for getting our management to actually agree with us,” Laws said. “We just leapfrogged the competition by just going.”

Dupixent jumped into two Phase III studies in 2019 for a chronic itchy skin disorder called prurigo nodularis, quickly securing an approval in 2022. The direct-to-Phase III strategy will lead to another FDA decision, expected this October, in chronic spontaneous urticaria.

Yet of the dozens of Dupixent trials that have been run, Ruddy and Laws both highlighted a breakthrough COPD success.

“That was a real risky one for the Regeneron team,” Ruddy said.

Other large drugmakers have struck out in COPD, and before the biotech gave the go-ahead, chief scientist George Yancopoulos wanted to understand the science. So Ruddy brought back biological insights, clinical data, and specific patient populations to support the idea of trying Dupixent in COPD.

Laws also recalls pitching COPD on Sanofi’s side starting in 2015. They ultimately got the support to start clinical research in 2018, with a Phase III study that enrolled COPD patients with high counts of eosinophil cells, a marker of type 2 inflammation.

Using that biology to select a subgroup “was a new shift in how you think about COPD,” Ruddy said. The trial was a success, with a readout earlier this year showing that Dupixent reduced exacerbations by 30%.

There have been no major advances in COPD for about 50 years, despite the massive market: The lung disease is the third leading cause of death and affects 550,000 US patients. If Dupixent can win another approval there, it could cause Sanofi and Regeneron to once again up their sales forecasts for Dupixent. Sanofi CEO Paul Hudson already increased his peak sales plans last year to €13 billion, calling that figure a “waypoint” that excludes COPD.

Laws continues to focus on the program as a VP and global program and development head of I&I for Dupixent, while Ruddy worked at Regeneron from 2016 to 2021 before jumping to the startup Tectonic Therapeutic as its chief medical officer.

Laws and Ruddy both see their Dupixent work as a career highlight, but both also have broader long-term career ambitions. Laws said she’d like to find herself in strong leadership positions with broader pipeline opportunities, while Ruddy left Regeneron to join the Boston biotech community and gain experience in leading and building Tectonic.

The two recently met up for breakfast, exchanging thoughts on their Dupixent work and how they’ve grown into leadership roles. They both feel a sense of responsibility to help the industry improve in areas like gender equity and diversity, particularly as they now play a role in hirings and promotions.

“That’s a mission of all of ours,” Ruddy said. “When you get to a certain level, there’s an obligation to help others.” — Andrew Dunn

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Michelle Longmire: Medable CEO says decentralized clinical trials are here to stay

A decade ago, Michelle Longmire was studying how the environment influences systemic sclerosis, a rare disease that causes skin tightening and joint pain.

It wasn’t easy to set up a clinical trial, leading the physician-scientist to leave Stanford University and co-found Medable. The company has raised more than $500 million after building a platform for decentralized clinical trials.

The CEO sat down with Endpoints to speak about why virtual clinical trials are here to stay and how to boost the number of women in biotech. This interview has been edited for concision and readability.

Jared Whitlock: There was a lot of buzz about trials going virtual or decentralized during the pandemic. Is that momentum still there? 

Michelle Longmire: The pandemic forced a behavior change. Since that time, what’s become clear is that flexibility for the patient has a number of benefits.

We’re seeing trials that are 100% decentralized, especially when you’re looking at a therapy that has a known safety record and you’re collecting worldwide data for a new label. We’re seeing hybrid trials that include some number of virtualized visits and more of the patient data is collected locally.

These had been tried as edge cases before — but never at the scale we’re seeing.

Whitlock: For companies, especially companies developing rare disease therapies, there’s often the sense that clinical trial advances outpace the regulatory environment. Is this a challenge you’ve run into? 

Longmire: If you look at what the FDA and EMA put out, it’s very progressive for decentralized trials.

But if you’re a rare disease patient who really needs a therapy, you are operating at odds with a system that’s designed for research efforts across a larger number of patients.

It’s really important for the patient advocacy groups, technology companies and drug developers to keep pushing the envelope on these statistical models. We need to look at the risk-to-benefit ratio.

Right now, the regulators aren’t really well-positioned to address some of these individual therapies and interventions. But I do believe that this will be an incredible area of progress in the next five to 10 years.

Whitlock: How are we seeing technology, including wearables, used in clinical trials? 

Longmire: One of the biggest problems in clinical trials is how we find the right patients. Patients who are eligible are never found. And it’s hard to go through the process and find out you’re not the right patient.

We’ve developed an app and screening methods where patients can go into a local lab, have a quick blood draw and quickly understand if they’re eligible for a trial.

We’re also excited about wearables, because drug development can benefit from physiologic data from patients collected at home, like blood glucose levels.

All of these things help inform not only the intervention and the outcome of that particular drug, but also what’s the benefit to the whole patient.

Sometimes we don’t even think about sleep as something that might be important for an oncology drug. But sleep is actually a really critical driver of health overall.

If a drug developer shows an impact on the core disease, and then layers on a bigger-picture story about the benefit to the patient, then the drug developer has really got something compelling. Or the drug developer might be able to show an impact that’s more narrow.

Whitlock: Women are underrepresented in biotech. What’s going to change that? 

Longmire: My experience is that when you see someone you subconsciously identify with, your mind frame of “I can do this” suddenly becomes very real.

When I was young, there were not many women physicians, and now women make up more than 50% of those entering medical school.

The more that we really change the top – the leaders, the CEOs, the founders, the executive team – the more that women will see they can do that. It’s a checkmark in your mind, where you relate to that person in a very significant way.  — Jared Whitlock

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Rose Loughlin: Leader of Moderna’s early-stage research charts a future for mRNA technology beyond vaccines

After Moderna’s breakthrough success with Covid-19 vaccines, everyone wants to know what messenger RNA can do next. And one woman at Moderna may know the answer to that question better than almost anyone else.

As leader of Moderna’s early-stage research, Rose Loughlin is exploring some of the most cutting-edge — and secretive — projects at the company.

She helms a team of roughly 500 people, mostly scientists, who largely work on things you won’t find listed on Moderna’s pipeline. That includes exploratory research and preclinical studies for all therapeutic areas besides infectious disease vaccines, as well as the company’s platform science team working to improve its mRNA and lipid nanoparticle technologies.

“We do keep a lot of our early work close to the vest,” she said. “Our disease areas are a little bit broader than what you see in the clinic.”

After a two-year stint at a consulting firm, and another two years on Biogen’s business development team, the UC Berkeley biophysics graduate hopped over to Moderna in 2016 to join the startup’s business development team before rising through the research ranks. She’s now senior vice president of research and early development.

One of the first deals Loughlin worked on was the company’s personalized cancer vaccine partnership with pharma giant Merck. That collaboration recently bore fruit with exciting results from a Phase II study in melanoma and plans to test the custom shots in other cancers, and has started a Phase III study.

Striking more partnerships will be an important way to continue expanding Moderna’s reach, Loughlin said, and she’s played a key role in several of the company’s recent bets, including partnerships with Carisma Therapeutics for cell therapies, CytomX Therapeutics for protein therapies that are only activated in diseased tissue, and Generation Bio for its twist on gene therapy that uses lipid nanoparticles instead of viruses to deliver DNA.

“We’ve built internal expertise in specific areas, but we recognize we can’t have that in every single potential application of the platform,” Loughlin said. “I’m really excited about the wave of therapeutics that we’re seeing come through the pipeline.” — Ryan Cross

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Crystal Mackall: A CAR-T leader’s unconventional path to biopharma

Crystal Mackall’s path to becoming a leading CAR-T researcher didn’t follow a typical arc.

Mackall grew up in a working-class household in Ohio, her father a steelworker and her mother a grocery market employee-turned secretary. When she finished undergrad at the University of Akron, rather than look for a job in academia or industry, Mackall went to medical school, graduating at 23. She spent six years treating patients before she says she truly started her scientific career.

“I decided I wanted to be a doctor when I was in sixth grade or something,” Mackall said. “Once I get something in my head, it’s sort of like, it’s hard to get me off course.”

But it proved invaluable once Mackall began working for the NIH. Having developed an interest in immunology as a doctor, she soon joined the institute’s cancer immunotherapy efforts, starting down a long and successful path as one of biopharma’s leading voices on CAR-Ts.

Her first mission at the NIH was to study T cell homeostasis at the urging of her mentor, National Cancer Institute branch chief Ron Gress. This came during the peak of the AIDS epidemic, Mackall said, when the reason why sick patients couldn’t regenerate their T cells — even if their viral loads were reduced — wasn’t yet understood.

“This phenomenon was also seen after bone marrow transplant,” Mackall said. “You would have patients who had undergone profound T cell depletion, and we were unable to regenerate their populations.”

Eventually, her research helped identify the role of the thymus in regulating T cells, providing a foundation for later generations of stem cell therapy. She hopes that her early work in bone marrow transplants, with insights on how to selectively engraft donor cells without further depleting others, could one day lead to less intensive preconditioning regimens for such patients.

Mackall moved full-time to CAR-T in 2010, and ultimately spent 27 years at the NIH before realizing in 2016 that her work was getting close to becoming real drugs. After a career in community hospitals and government, she joined Stanford to take her scientific translation skills to the next level.

“If you really want to translate your discoveries, you need to work with biotech, there’s no other way to do it,” Mackall said. “I find that I really enjoy it. It’s a very fast-paced environment, it’s very goal-oriented. There’s less bureaucracy and paperwork and grant writing, and all of this stuff that makes academic medicine challenging.”

In addition to her roles at Stanford, she serves as a scientific founder for Lyell Immunopharma, CARGO Therapeutics and Link Cell Therapies. Each is focused on a different way to apply CAR-T therapy: moving into solid tumors, targeting CD22 in patients refractory to the earlier CD19 CAR-Ts and finding ways to better limit off-target toxicity, respectively.

Another of her goals is to emphasize diversity in the workplace, ensuring the next generation of women in biopharma have paths to accelerate their careers.

“There’s great equality in undergraduate and graduate degrees and in entry level pharma positions,” Mackall said. “It’s when you get higher up into organizations, whether they be academic or biotech, that you start to see the thinning-out of the women. I think the single most important thing that can happen is to get women in those positions, because there’s nothing like having a role model to inspire young women.” — Max Gelman

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Christine Ann Miller: Melinta CEO navigates choppy waters in antibiotics field

Christine Ann Miller believes every step in her life led her to Melinta Therapeutics.

The high school chemistry whiz got her bachelor’s in chemical engineering from Rensselaer Polytechnic Institute, an MBA and master’s in management of technology from the Stevens Institute of Technology, and then spent time at Merck and Allergan. After a five-year stint at Sandoz, she’d worked across R&D, supply chain and commercialization — and wanted a new challenge.

Deerfield Management had just acquired Melinta Therapeutics and was looking for someone to transform the antibiotics company. Miller took the helm in 2020 with a vision to diversify the company, laying out plans a year later to become a leader in acute care in addition to antibiotics. The company is in the process of launching a new antifungal, Rezzayo, which won approval in March for candidemia and invasive candidiasis.

Miller sat down with Endpoints to discuss the company’s next steps and what it takes to succeed in the high-risk antibiotics field. This interview has been edited for concision and clarity.

Nicole DeFeudis: Antimicrobial resistance is a growing global health threat, but many drugmakers have bowed out of the field. What inspired you to get involved?

Christine Ann Miller: There is this stress in the marketplace, the returns really aren’t there. What you’re seeing is that large pharmaceutical companies have left the development of antimicrobials to smaller companies like Melinta. So 95% of the research [is] done by companies like Melinta, which is really not sustainable because what happens is then all the commercialization effort is left to companies like Melinta.

We’ve been very fortunate, we’ve been successful at being able to navigate the difficult market dynamics. And part of that navigation is really to diversify our portfolio. So you’re not only focused on antibiotics anymore, although that is still a cornerstone of what we do.

DeFeudis: What are your main goals for the next five [to 10] years?

Miller: We want to be that partner of choice so when companies have their development assets, they can come to us and partner with us. We’ll also need to have our own pipeline and so we’ll be looking to develop or acquire more clinical stage assets.

DeFeudis: What specifically are you looking for in an asset?

Miller: Not only are we interested in antimicrobials and antinfectives, but we’re also looking at other acute areas like acute cardio, pulmonary, non-opioid pain, also some acute CNS products. The tie-in here for us is, how can we leverage our commercial infrastructure? But also there has to be a clear unmet medical need.

DeFeudis: What needs to happen across the industry to successfully combat AMR?

Miller: We need Congress and the federal government to really step in and address the commercial marketplace that isn’t really working…From an industry perspective we really are trying to do our part, so we’re really trying to make sure that we’re providing the access to patients that is needed for our existing portfolio. But we do know that there’s a need to continually innovate and have safer, innovative antimicrobials to combat AMR because that’s the reality. The reality is that bacteria and fungi are living organisms that continue to evolve. — Nicole DeFeudis

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Sandra Milligan: Meet the woman building Organon’s R&D pipeline ‘from scratch’

Sandra Milligan is a doctor, a lawyer, a US Army veteran and a longtime pharma executive with successive roles at Amgen, Genentech and Merck. It’s a lifetime’s worth of roles that have propelled her into her current job as head of R&D at Organon, Merck’s women’s health biopharma spinoff. When plans for the spinoff were announced in 2020, Milligan was at Merck, so she called the newly-named CEO for Organon and pitched herself as a candidate for the R&D position. Three years later, she’s now leading the charge to build out a pipeline of new drugs in women’s health — a therapy area that some large biopharmas haven’t been as interested in lately.

“Being in a company that is focused on women’s health gives us an opportunity to really aggregate the voices of women and start really hitting home that we need more investment in NIH, we need more opportunities for academic investigators to do basic research, we need more opportunities to help foster that environment of the pre-IND stage companies — the early clinical study or early clinical stage companies — in order to make sure that we’re bringing a lot of shots on goal,” she said.

Milligan is a graduate of George Washington University Medical School where she also joined the US Army on scholarship, completing her internship at Letterman Army Medical Center in San Francisco. That’s when she decided to go to law school, graduating from Georgetown after her service was complete. She did corporate and healthcare law for several years before joining Amgen.

The following Q&A is edited for length and clarity.

Beth Bulik: You have an unusual career journey for someone in biotech or pharma, especially the military. 

Sandra Milligan: My experience in the military really lent me a respect for the armed services and the missions that they deploy. It also gave me that first exposure to an organization that had to rely on compliance regulations, SOPs, structure and infrastructure — in order to ensure the safety and integrity of the mission for the military — and for me it was just an incredible experience at the time.

My clinic basically served to support both retirees as well as active-duty servicemen and women, and it was during the time of Desert Storm, the first Iraqi War, as well as [Restore] Hope, which was our engagement in Somalia. It wasn’t something I ever planned to do, but I wouldn’t have traded that experience for anything. It gave me a respect for institutional knowledge, a respect for leadership, which you don’t always find when you come up through a singular profession, like law or medicine.

Bulik: Can you talk about what you’re doing right now at Organon?

Milligan: So Organon is still in its early phases. We spun out in June of 2021, and we brought with us some really amazing products that are established brands and biosimilars. At one point all these products were innovators and now they’re all affected by their loss of exclusivity. So there are generic pressures, competitive pressures. But they’re all inherently really great drugs that once were innovative and really moved the market and patient care forward.

What’s atypical for Organon is that we’re building an R&D organization basically from scratch. It’s not like a Big Pharma where both of those parts of the company are well-established, and it’s not like a startup where you’re just starting with an idea and asset, and then building from there. It really is this kind of two-headed monster, if you will, trying to manage the early stages of our evolution as a company.

And we’re focused on women’s health — that’s where we really want to build our pipeline, acumen and assets.

Bulik: Why is women’s health important to you?

Milligan: I was lucky enough to have a pretty uneventful womanhood, if you will, until menopause, and menopause just hit me like a ton of bricks. Looking at women’s health, it reminds me a bit of when I was rotating in surgery. In surgery, if a wound is wet, your job is to dry it. If the wound is dry, your job is to wet it. And in women’s health, when you look back and think about whether it’s contraception, fertility, endometriosis, polycystic ovarian syndrome or menopause, if you have too many hormones, we adjust your hormones. Not enough hormones, we give you more hormones.

We do a lot of hormone modulation, and I think where women’s health is at is there’s enough early research going on to understand that it’s not just a hormonal balance or imbalance that causes some of the most egregious symptoms that they experience. There are other targets that we need to identify and drug against to help women — whether it’s to improve their lives, improve the functioning of their lives or treat diseases like endometriosis.

It’s also very unique that we need to be multi-modalic in our thinking. It’s not just going to be a pharmacological solution. There are devices that are solutions for some of the problems and challenges women face. And of course, there are diagnostics that marry along with some of the pharma and also monitoring.

The challenge has been finding and looking for those investments in the early science that lead you to believe that a particular asset is going to move forward in the pipeline. I feel like women’s health is a little bit where oncology was 20 years ago, when basically, we had chemotherapy and radiation therapy and a few other molecules that were just starting to come to the market that were more disease-specific, but really kind of that, ‘hit it with chemo. Hit it with radiation.’ So I feel like that’s where we have been in the past with women’s health: ‘Hit it with hormones.’ — Beth Bulik

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Li Peng: Chief scientific officer charts a ‘new future’ for cancer treatment

Li Peng was building antibodies at MedImmune’s Maryland headquarters when she stumbled upon an overlooked approach to treating cancer. Months later, she moved her family to Boston to pursue what she calls a “new future” for oncology drugs.

It was known for decades that some patients’ tumors have an abundance of sialoglycans, complex carbohydrate chains that are attached to proteins and lipids, and those patients tend to do worse. Later, scientists discovered that these cell-surface glycans trick the immune system, preventing immune cells from detecting and attacking cancer cells.

Palleon Pharmaceuticals was built around the discovery that the upregulation of sialoglycans suppresses the immune system in more than half of cancer patients. Peng was introduced to the company’s CEO Jim Broderick in 2016, just as he was closing a $47 million Series A on the promises of research from scientific co-founder Carolyn Bertozzi. Peng joined months later as a senior director of discovery, and in 2020 became the company’s first chief scientific officer.

“This field has been overlooked,” she said. “We’re even now still underappreciated by a lot of basic researchers, also drug hunters [and] drug developers.”

Palleon’s current approach is to use an enzyme to cleave off the sialic acid at the end of sialoglycans, preventing it from binding with inhibitory receptors called siglecs. Bertozzi has compared the company’s experimental therapy to a lawn mower, clipping off the sialic acid.

The concept has some logical similarities to checkpoint therapies, and in some of the first preclinical models, Palleon’s enzyme demonstrated “very robust anti-tumor activity,” Peng said, comparable to PD-1/PD-L1 blockade. Peng said she didn’t sleep for days after seeing the data.

“I couldn’t fall asleep because of the excitement about the science and the potential,” she said. “If this works, it’s a new dimension of treating patients.”

But in early attempts, Bertozzi’s enzyme was bacterial, and the team needed a human one — which was much more fragile. They screened millions of variations, until finally in 2017 the team’s enzyme survived, queuing another restless night.

Palleon’s technology has since evolved, and Peng is now shepherding the first program through the clinic. The company recently brought Phase I data to AACR suggesting its lead candidate E-602 showed signs of dose-dependent desialylation and immune system activation. It was also “well-tolerated across the entire dose range evaluated with no dose limiting toxicities,” according to the company.

“If you understood the glycoscience, it’s in retrospect obvious, hiding in plain sight,” Bertozzi told Endpoints at AACR in April. “I anticipate that history will look back on this with the big question like, ‘Why didn’t people look at this sooner?’”

The company has determined the right dose to bring into Phase II, and CMO Dave Feltquate suggested earlier this year that the candidate may ultimately be combined with other therapies in pursuit of potential cures. The company also sees potential for the platform in inflammatory diseases.

“It’s even more exciting than I had thought when I joined Palleon,” Peng said. “This is a new future, a new dimension.” — Nicole DeFeudis

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Leah Sabin: By solving key challenges, this exec could help Regeneron make a new name for itself in genetic medicines

One-and-done gene therapies promise to revolutionize medicine, but only if scientists can get those treatments where they need to go. The hollowed-out viruses used to deliver genes tend to get clogged in the liver and have a hard time reaching other tissues, such as skeletal muscle, without cranking up doses to dangerously high levels.

Soon after joining Regeneron in 2015, Leah Sabin began playing around with a potential solution to that problem. Her trick? Employing an antibody as a matchmaker between the virus and its target.

Sabin has decorated the surfaces of AAVs — the workhorses of gene therapy — with antibody fragments that direct the viruses into muscles, across the blood-brain barrier, or toward other hard-to-reach organs. She also helped develop bispecific antibodies that grab onto an AAV with one arm and pull it into a particular cell type with another arm.

“The antibody serves as a bridge,” Sabin said.

The approaches haven’t reached clinical testing, but if either proves successful, it could open doors to more effective and safer therapies for countless diseases.

The work has taken Sabin’s lifelong fascination with viruses, which she studied in graduate school, in a direction she never imagined. While it’s not her childhood dream of hunting for deadly pathogens in exotic locales, she said that subverting viruses to “make them do something good” has been the highlight of her career.

Sabin is now working on pairing those engineered viruses with CRISPR gene editing therapies that can help insert DNA into a particular site in the genome. She hopes that the technique, co-developed with Intellia Therapeutics, could lead to more durable treatments, especially in children who may lose the benefits of gene therapies as they grow.

Sabin’s promising lab work caught the attention of the company’s research leaders, who recently named her executive director in the newly formed Regeneron Genetic Medicines division. If her efforts there are successful, she could help the longstanding antibody giant make a new name for itself in genetic medicines.

“We’ve been under the radar,” she said. “But we’re very committed to this area and really excited to grow.” — Ryan Cross

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Martine van Vugt: A key planner of Genmab’s vision steers antibody maker through ups and downs

For Martine van Vugt, one painting epitomizes the ups and downs she’s been through in more than 20 years with Genmab.

Years prior, the Danish biotech had purchased the artwork, an abstract painting by contemporary German artist Thomas Ritter, a rectangular canvas with foggy patches of blue, white, teal and brown. It was on her office wall when Genmab decided to chop operating costs in 2011 — and that was after a round of restructuring and layoffs the company already underwent in the couple years prior.

“I thought, if needed, we could sell the piece in exchange for one more experiment in the lab,” she said.

She didn’t have to. Genmab was able to strike deals around its antibodies that put it back on solid financial ground. But as Genmab grows into a $25 billion market cap powerhouse, van Vugt — who was recently promoted to executive vice president and chief strategy officer — still looks to the painting as a reminder.

In the 1990s, van Vugt studied with Genmab’s co-founder Jan van de Winkel while working toward her PhD, and then she jumped on board as one of the first employees in Utrecht, the Netherlands, initially as a researcher.

Over the years, she championed a strategic business development approach to pushing forward Genmab’s antibodies and then led the deal talks around the same antibody — daratumumab — that she had worked on early in her career. J&J’s Janssen licensed the drug in 2012, and it was approved as Darzalex in 2015, the first of seven Genmab products now on the market.

“I’ve watched the company evolve in ways that go beyond what I could have imagined,” she said.

Earlier this year, Genmab, which has historically been focused on cancer, announced it’s looking to expand its focus into immunology and other serious diseases — part of a 2030 vision that van Vugt helped define. But at its core, the mission remains the same: to help as many patients as possible with Genmab’s “knock-your-socks-off” antibodies. — Amber Tong

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Tonya Villafana: Infectious disease expert spotlights teamwork and resilience under pressure

Tonya Villafana’s career in biopharma spans decades and across countries and continents — but before all of that, she was a girl growing up in the Caribbean.

She was interested in studying science, biology and disease, in particular after the HIV epidemic hit in the 1980s.

“I was very interested in what was happening with HIV and really around the disparities when it came to issues of access and equity related to the HIV epidemic, so that sort of spurred my further interest in infectious disease and looking at diseases that affected the most vulnerable populations around the world,” Villafana said.

After receiving her master of public health from Harvard University, she spent five years in Botswana, researching, building clinics and working with the government to combat HIV. She helped set up the first vaccine trial in Botswana as well as the first Phase I trial for an HIV vaccine that enrolled simultaneously in the US and Botswana. Botswana had one of the highest HIV rates in the world at the time, she said.

Now VP and global franchise head of infectious diseases at AstraZeneca, she’s since worked on malaria, influenza, Ebola and most recently, an RSV antibody that won FDA approval to protect infants through their first RSV season. Dubbed Beyfortus, the preventative antibody was created through a partnership with Sanofi. While Sanofi is leading the launch in the US, Villafana was the lead scientist for AstraZeneca on the project.

She also worked on AstraZeneca’s Oxford University-partnered Covid-19 vaccine, which she described as a “collective experience,” as everyone worked under extreme pressure. Though the vaccine never won clearance in the US, the company delivered 3.1 billion doses to more than 180 countries (mostly low- or lower-middle income countries) at no profit, Villafana said, including to her family in Trinidad and Tobago.

“Here we were in the middle of the pandemic and we were all working together 20 hours a day just trying to get everything lined up,” Villafana said. “Trying to get everything done to get this vaccine developed in as quick a time as we could, and everyone was doing that from the CEO and down to everyone on our teams.”

Villafana said the experience taught her many lessons, from efficiency and transparency to the importance of investing early in R&D and putting together data packages “that could support something in the event of a pandemic, so we could move quickly.”

“But I think the best learning for me was really what people can do when they need to do it and deliver something,” Villafana said. “It’s taught a lot about people and what people can do under extreme circumstances, how we could all work to meet a common goal.” — Katherine Lewin 

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Angie You: Architecting biotech startups and female leadership networks

On the morning in December 2021 that Sanofi announced it was buying Amunix, CEO Angie You emailed a group of female leaders in drug development. She thanked them for their support over the prior three years as she led the oncology biotech toward the clinic.

At the time, the women had no formal name or concrete network. Earlier in her career, there were few women to look up to, and especially few who were Asian. But she eventually became close with fellow biotech executives Sheila Gujrathi and Julia Owens, and their frequent conversations culminated in the idea of a summit for female biotech CEOs. They’d repeatedly been left out of networking events.

“Why don’t we do something?” she recalled. “We’ve been talking about it for years, and we finally just said, ‘Let’s do it.’”

A few months later, in March 2022, 25 of them met in the hills of Arizona as the Biotech Sisterhood. They were immersed in nature, hiking and building a community with other female leaders — perhaps the perfect trifecta You could imagine.

This past March the summit doubled its inaugural size. The group’s efforts have blossomed into regional meet-ups, Slack channels for both non-urgent mentorship and in-the-moment guidance on the SVB crisis, get-togethers with female VC leaders, unified calls in response to Supreme Court actions, support for gender-affirming care, and more. Four months after the Supreme Court handed down its Dobbs decision, the Sisterhood collected more than 200 signatures from biotech, pharma and investment execs supporting increased access to reproductive care.

You would like to replicate the model for women finance chiefs and C-suite medical leaders in biotech.

“I truly believe life is short and precious, especially as I get older, that I just want to work with good people and I want to develop people. That’s probably as motivating to me as the patients — to have impact on my employees. And then, of course, I would love to have further impact on the industry, and that’s what drew me to this whole concept of the sisterhood,” she said.

After selling Amunix, You itched to get back in the driver’s seat — she loves building teams. She scoured leads for new CEO posts, a role she never really thought much about as an undergraduate researcher in Greg Verdine’s Harvard lab working toward a Nature paper, nor during her days in the labs of Stuart Schreiber, the famed Broad Institute seminal researcher who taught her how to pitch.

Her career leading up to Amunix had been a “circuitous path,” as she characterized it, saying she’d switch roles once the learning curve declined. Her path took her to McKinsey, then VC firm Venrock, where she experienced the pain of a biotech startup not panning out. She eventually went to Aragon, where she helped with an IPO and a sale to Janssen. At Sierra Oncology, she developed a knack for finding assets to in-license (including momelotinib, now in GSK’s hands).

Her friends warned against a quick return to helming a small biotech, but the momentum from Amunix, where she instilled a philosophy of “no egos, no jerks, no politics,” had become infectious and she wanted to carry it forward into another company. In recent months, she’s put together the foundation for a small molecule drug discovery outfit named Architect Therapeutics. You is methodically safeguarding the particulars of the budding startup, even the story behind the biotech’s name. It will be relayed down the road, she promises.

Outside of Architect and the sisterhood, You supports educational work (her sister is a long-time teacher), citing how “game-changing” her schooling was while growing up with parents who immigrated to the states. Her family meets for dinner weekly, and during Covid, her family grew: She rescued a puppy from Taiwan. His name? Bonkers.

She’s now designing the blueprint for Architect with her right-hand colleague, president Darcy Mootz, while hiking together in the hills of Mill Valley. Like she did at Amunix, You is building up a support system and hoping to inspire the next generation of biotech leaders.

“Let’s give them the fertilizer and the right environment and they’re going to thrive. That’s such a motivator for me as a leader as to why I got back into the CEO seat,” You said. — Kyle LaHucik

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Jane Zheng: Seasoned entrepreneur wants to bring gene therapy to China and make it affordable 

Being among the first to adapt a new technology is never easy. But when Jane Zheng and a small group of researchers in China began developing viral vectors to ferry genes into cells, there was a unique challenge to contend with.

It was 2003, and China was being terrorized by a mysterious, deadly virus known as the SARS coronavirus. It didn’t matter that she was working with lentiviruses, adenoviruses, adeno-associated viruses; the talk of a virus could attract weird looks.

“Even the scientific community and technological community saw this vector with fear and uncertainty,” she recalled.

Almost two decades later as the CEO of a gene therapy company, Zheng would run into new challenges during a pandemic caused by a new, but related, coronavirus. Yet coming out of several years of lockdown, her biotech, Belief BioMed, is now on the cusp of filing for the approval of China’s first-ever gene therapy for hemophilia B, having raised hundreds of millions of dollars in multiple financing rounds and built a hefty pipeline of programs. If approved, it promises to offer a much cheaper alternative to similar treatments currently on the Western market.

Described by Qiming managing partner Nisa Leung as a “pioneering figure in gene therapy in China,” Zheng first learned about viral vectors while she was doing her PhD at the Institute of Neuroscience, Chinese Academy of Sciences. They were a hot new tool that was yielding robust experimental results overseas.

She became part of teams that standardized and industrialized the process, and successively co-founded GeneChem, a contract research organization focused on various gene therapy tools; and Neuron Biotech, then the largest contract development and manufacturing organization specializing in adeno-associated virus (AAV), supplying vectors to researchers in universities, research institutions, hospitals and multinational corporations.

At the time, though, most of the work ended with the publication of papers. While working with customers, Zheng also found that their targets, research methods and clinical trial design left much to be desired, although there wasn’t much she could do about it — until she met Xiao Xiao, a professor at the University of North Carolina at Chapel Hill and co-founder of Bamboo Therapeutics, at a rare disease conference in Beijing.

Belief BioMed would combine their expertise in translating AAV engineering techniques into gene therapy candidates, then running trials, manufacturing and commercializing them — with Xiao bringing more practical experience in R&D and Zheng leveraging her strengths in company management, drug production and potential marketing. By the time they began laying the groundwork for the startup, Europe had approved its first gene therapy, and the US would greenlight several more within a few years. But the multimillion-dollar price tag, in their minds, would always keep those treatments out of China’s reach.

“There was no way Chinese patients could afford this,” she said.

In the early days of Belief BioMed, everything felt like a “zero-to-one” step: They had to educate everyone, from patients to physicians to investors to regulators, about the potential for one-and-done therapies; convince scientists and engineers well-versed in world-class standards to join the team and learn to work together; and build out their own manufacturing facility after touring contract manufacturers around the world and realizing how long they’d have to wait and how expensive the production would be.

“With the money we raised from angel investors, we probably would have had to spend two-thirds of it on the manufacturing,” she said. “That wouldn’t have left us much money for the clinical work.”

Just a year after they had everything lined up and officially launched Belief BioMed, Covid hit. The global supply chain broke — a big hit for a company that imported more than 80% of its key equipment, reagents and consumables. Hospitals paused clinical trials to focus on infected patients, and investors diverted their capital to vaccines and diagnostics.

Looking on the bright side, Zheng believes the pressure and limitations from the Covid pandemic pushed her company to accomplish things that they otherwise wouldn’t have. In turn, that localization — Belief BioMed now sources much of its inventory from within China — is shaving off considerable time and costs.

These days, Belief BioMed finds itself among a dozen biotechs with gene therapies in the clinic. With dosing completed in the registrational trial for its lead program in hemophilia B, the company is currently waiting on 52-week data in order to submit NDA applications sometime in the coming year. Behind it, Zheng’s team of 300-plus has come up with a pipeline of gene therapies covering both rare and common diseases, which she hopes will one day treat not only patients in China but those in nearby regions, including the Middle East and Southeast Asia.

“We look forward to becoming the fastest and earliest to bring an AAV gene therapy product to China or even Asia,” she said. — Amber Tong

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Mom Leaders of Rare Disease Organizations: Reshaping drug development for rare diseases

They call themselves “rare disease moms” — or sometimes “fighter moms.” Their journey begins when their children are diagnosed, and then they’re told by a doctor to go home and cherish the little time left.

Instead, they parse research, start nonprofits and raise money to try and spark new treatments, while reshaping how clinical trials are run for tiny groups of patients.

“We get our message out there article by article, and human interest story by human interest story. But I think the news that really needs to come out is how much these moms are moving the needle in the biopharma industry,” said Jocelyn Duff.

Duff started a foundation in 2016 to find a therapy for her daughter’s ultra-rare condition, called Charcot-Marie-Tooth disease type 4J. The condition, often likened to ALS, weakens muscles and takes away patients’ ability to breathe on their own.

Thanks to these moms, the treatment landscape is improving for the 1 in 10 Americans affected by a rare disease.

Christine Waggoner and her husband, Doug, got to the bottom of their daughter’s delayed development after two years and a misdiagnosis. Their daughter, Iris, has a fatal condition known as GM1 gangliosidosis, so they founded the Cure GM1 Foundation, raised $4.5 million and now there are multiple therapies in clinical trials for the condition.

Similar to other moms in the rare disease world, Waggoner describes herself as an “accidental advocate.”

“I just realized at a certain point that no one else was going to come along and really push as hard or as passionately. That is something that I think is a common thread with mothers,” Waggoner said.

When Amber Freed’s son, Maxwell, was diagnosed in 2018 with a debilitating form of epilepsy called SLC6A1, a Google search for the condition revealed no results. Now, there are scientific papers, articles and a link to Freed’s nonprofit that she formed to find a cure.

“We are leading research; we are becoming the new face of precision medicine. There is finally hope for all of these families,” Freed said.

But a downturn in biotech financing has led many drugmakers to shelve family-funded therapies, as Endpoints reported this spring. That hasn’t stopped families from forming labs, companies and joint ventures that put control in their hands. They’re developing patient registries that do away with data silos and entice pharmaceutical investment.

But the hope is that, one day, much less of the burden will be on moms, who often quit their jobs to find treatments — a path that’s not realistic for low-income families.

In May, a $97 million private-public partnership was announced that aims to speed up gene therapies for eight ultra-rare conditions and offer a roadmap for other diseases. Included in the program, called the Bespoke Gene Therapy Consortium, is the condition that affects Duff’s daughter, Talia.

“I can’t wait for the day when someone like me doesn’t have to appear on video like this, where someone else is going to step in and do the heavy lifting of finding cures,” Duff said during a Zoom call.

“We’re changing the way these companies are thinking,” said Kasey Woleben, co-founder of the Cure Mito Foundation, a patient group dedicated to Leigh syndrome, the most common type of pediatric mitochondrial disease.

They’re urging regulators to make reforms as well. Often, clinical trials for ultra-rare conditions cannot find enough patients. In response to moms and other rare disease advocates, the FDA is rethinking its approach.

“We are truly breaking the mold and paving the way for future generations,” Woleben said. — Jared Whitlock

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