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Dr Wendy Chung’s career as a physician–scientist has been devoted to improving the lives of families affected by rare genetic neurodevelopmental disorders. As principal investigator at Simons Searchlight, Wendy has immersed herself in translational research to improve care while seeking cures. She describes how the organisation’s approach to research prioritises data-sharing between researchers and genuine partnership with patients, and shares her conviction that these guiding principles can be a blueprint for stronger scientific progress in a global context

Written by Nicola Miller, editor-in-chief, Rare Revolution Magazine

Interview with Dr Wendy Chung, MD, PhD

Dr Wendy Chung’s journey supporting families affected by rare diseases started in 1988, long before the Human Genome Project helped to improve understanding of the genetic causes of many of these disorders. Working at the National Institutes of Health, Wendy was inspired by work on the rare inherited disorder metabolism phenylketonuria (PKU), which led her to pursue a career as a paediatric medical geneticist. “This was the beginning of realising I needed to be trained as a physician and a scientist. I very intentionally went after achieving this, with conditions that affected the brain and behaviour as my focus.”

At the NIH, Wendy saw many families affected by neurodevelopmental disorders and she resolved to push for greater understanding of these conditions. More than three decades later, as the chief of paediatrics at Boston Children’s Hospital and a faculty member at Harvard Medical School, Wendy balances her clinical and research responsibilities by harnessing the synergies that exist between these two worlds—and remembering one fundamental principle. “It’s simple: it always starts with the patient and ends with the patient, and that frames everything I do. I will always see patients because that’s what keeps me grounded, focused and real. I’m not a physician, I’m not a scientist, I’m a physician–scientist. I can’t separate those two sides of my brain.”

“There is a different altitude to fly at depending on what you’re trying to accomplish. Sometimes you need to fly at very low altitude to see things at very high resolution. Sometimes, at high altitude to see the entire landscape and how different pieces fit together. Some days I’m flying at low altitude, some at high altitude, but always with the same goal and mission in mind.”

A bold mission

Sadly, not every child living with a neurodevelopmental disorder will receive a cure in their lifetime, but Wendy’s mission is to pursue that ultimate goal. She ensures that the ongoing learning in the laboratory informs the actions taken in the clinic today. “I’ve tried incredibly hard not only to identify new conditions but to ensure we understand those conditions at a very basic level, to support with clinical implementation.”

Wendy sees herself as a catalyst, encouraging the collaboration that is needed to enhance the care that families need today—and to develop the cures that they hope for in the future. This, she says, needs a diversity of insights, geographically and organisationally. She stresses that research efforts need to be “complementary, not competing” to get the job done.

The solutions to patients’ needs do not lie solely in “fancy molecular therapies and biological solutions,” Wendy says. The information, tools and technologies that are available today have the potential to improve outcomes and quality of life. Assistive communication tools, for example. “We must be acutely aware that these have significant power for individuals with these conditions. Only with careful listening to parents did I realise the true potential of some of these individuals. I worry that we have previously suppressed them from reaching their full potential. But there are technologies to help them do more—I’m really excited about that. And when we look forward to new enabling technologies of the future there’s even more hope.” She is sure that the next two decades will be a transformative era for rare neurodevelopmental disorders.

Building a better infrastructure for earlier diagnosis will help children to access optimal care, which includes prompt access to these technologies, empowering them to live their best lives. However, within that diagnostic infrastructure we need equity of access, she says. 

“With the potential that newborn screening brings, we can potentially diagnose these conditions within the first few weeks of life. But it should not be just in certain countries, certain cities, from certain payers: every baby should have access to this. We must leave no child behind.”

Roadmaps for improved patient care

Wendy is principal investigator at Simons Searchlight, an international research programme launched and funded by the Simons Foundation. Simons Searchlight currently studies over 175 rare genetic neurodevelopmental disorders. Its 50-person team of scientists, doctors, data analysts, genetic counsellors, research coordinators, product developers and communication specialists has contributed significantly to understanding the genetic underpinnings of many neurodevelopmental disorders, in turn informing current care and ongoing research.

“The data we are collecting about one individual is influencing that individual’s care but also bringing broader learnings for that community,” Wendy says. “We don’t want our research to duplicate other studies. Often parents feel like they have already answered the same questions time and time again. We want to make sure that their insights are never redundant and are being used responsibly—and as widely as possible.”

The team’s investigators, researchers and doctors work together to interpret the findings from research, translating them into actionable steps in the form of “roadmaps”. These are designed to support doctors, who may be encountering a condition for the first time, so they can be more intentional and confident in the care they give to patients.

The roadmaps give doctors powerful insights, Wendy says. “It may be understanding the side-effects of a drug, or what medications work best for epilepsy associated with a particular condition, or the intellectual potential of individuals who are non-verbal—to provide suitable communication interventions, or how to aid improved sleep through the night, so that an individual and their caregiver can be their best selves.”

For families, too, these roadmaps give families an increased understanding of what to expect, and this can be profoundly impactful in reducing anxiety.

The development of these condition-specific roadmaps is proving pivotal across many patient communities. For example, studies have shown that for some people with neurodevelopmental disorders there is an increased risk for cancer. Knowing who those people are and the types of cancers to screen for is incredibly important, Wendy explains. “These communities often have difficulty understanding their body and communicating changes effectively. You can imagine how easily this can delay a diagnosis of cancer. But if we have that all-important roadmap and we know we must screen specifically for, say, kidney cancer or leukaemia, we can build screening and vigilance for that into the standard patient care. These guidelines allow for a proactive approach.”

Simons Searchlight’s research into Jordan’s syndrome gives another example of how roadmaps can help to translate research findings into improved patient care. Its research showed a link between this rare neurodevelopmental disorder and parkinsonism, and subsequently it has been found that patients’ symptoms may be alleviated by a specific medication used in the treatment of Parkinson’s disease.

Illustrating the concept further, Wendy explains how Simons Searchlight’s research into the genetic factors associated with autism has brought insights that are potentially relevant within the study of other neurodevelopment disorders. “We are still in a learning mode and the roadmap is still evolving, but there is power in sharing that roadmap.”

Implementation of these improvements to care is driven through collaboration with patient advocacy groups. “I think of it as a hub and spoke approach,” she says. “Simons Searchlight is, in many ways, a hub centrally supporting these different spokes or communities, with advocacy leaders helping to anchor those spokes. Collectively we’re making sure we are moving things forward.”

The power of real-time research

Simons Searchlight is developing the work of its online programme so that it includes more opportunities for in-person interaction. It recently moved to a new building—designed by families—at Boston Children’s Hospital. It is a place where scientists and clinical teams work together to bring answers and hope to families facing rare diagnoses.

This approach means not only that research becomes more tangible and immediately useful for families but also that patients become partners in that research. For example, a parent (a trained dentist) approached Wendy about a problem with her son’s teeth. Using its hub and spoke approach, Simons Searchlight administered a survey, developed by that parent, across multiple neurodevelopmental disorders. “We wanted to understand whether this was this just an issue with one child or if it could it be a more generalised principle. I can’t tell you how eye-opening it was to realise that many of these neurological conditions do in fact have primary dental manifestations.” The outcome of the study was transformative, allowing the team to pinpoint who would benefit from additional support, such as sealants to protect enamel or increased surveillance. This was then captured on the condition roadmap as a required standard of care.

Having parents as co-authors to these roadmaps—in a genuine partnership—improves input data for researchers and outcomes for patients. “I would say that observations from what I will call Dr Mom and Dr Dad (who care for someone with a condition 24/7), are invaluable. I’ve learned to trust their insights, which, when guided with the right questions, are incredibly powerful. I can be their spokesperson, and reciprocally, they have to be my spokesperson in different settings to make things happen. Together is better.”

Simon Searchlight’s blueprint for stronger research

Wendy would love to see the collaborative approach of Simons Searchlight and Boston Children’s Hospital replicated by a global network of researchers, clinicians, families and advocates working in partnership. Beyond that, she wants a reframing of the current structures for research funding through the development of a convening authority. Having a neutral party to bring researchers together and incentivise them to share their data, would substantially increase the value of research. That more productive research ecosystem would be especially powerful for rare diseases, where investment, data and numbers of participants may be equally limited early on.

“The current structure for career progression and grant funding within research is set up such that scientists are not motivated to be forthcoming and share their data,” she says. “Essentially, scientists are competing against each other. That’s just the way the game is set up. I don’t like that, and we’ve been trying hard to change the rules of the game: to make collective success rather than individual success the motivation. It will take time, but we are making progress.”

For Wendy the principles of Simons Searchlight offer a blueprint for a brighter future for scientific research. “Simons Searchlight brings the principles of data sharing, transparency, rigour—really doing science in the right way and not taking shortcuts—to the work it funds.” She hopes that her students and mentees will be inspired by these principles and devote their lives to driving progress.

“I don’t know where these young people are headed, what levers they’re going to pull or at what altitude they will be flying, but they will each have impact. Some will end up in public policy, some at pharmaceutical companies, some will be teachers. All of which helps build this collective society, who in time will be able to achieve what I think we can achieve, both scientifically and clinically. If we train an international team of people to think like this, then collectively we can achieve this vision.”

To cultivate the researchers of the future, Wendy believes that we need, above all, to make personal connections between them and families, so that they persist through the inevitable setbacks. “These relationships make our work tangible. It’s not just cells in a dish; it’s having the picture of that person up on your bulletin board, reminding you why you’re doing what you’re doing on those late nights when the experiment didn’t work.” Those connections can last a lifetime for young scientists—just as they have for Wendy in her bond with families living with rare genetic disorders.

Wendy’s hopes for the future

“For rare diseases, we can’t afford not to have everyone stand up and be counted. In my opinion, we can’t wait. We must harness the collective wisdom of the crowd.”

Wendy’s career has been spent working to understand the challenges of the neurodevelopment disorder community. Her goal has been to “lift the burdens so that children can just feel joyous, and be able to wake up each day with purpose and excitement to achieve what they want to achieve.” With the Simons Searchlight team, she is striving for a future where diagnoses are made early enough to make an impactful difference, treatments are available with equitable access, and support is scalable to all.

Wendy is excited to see the progress happening in her lab around her today. “There are now things that we’re starting to do—just at the very earliest days, so I do want to set expectations—but we are looking at treatments in an n-of-one bespoke way. For certain conditions, we are thinking about strategies of gene addition, gene editing, gene replacement, small molecules—the entire toolbox of possibilities.”

Powerful partnerships with Harvard Medical School, Broad Institute, Massachusetts Institute of Technology and the nearby cluster of biotech companies mean that Simons Searchlight is ideally placed, Wendy says, to “move forward simultaneously, in many different dimensions, so that we can maximally benefit from the synergies”. Her deepest hope is that the organisation’s work will be truly transformational—not just for one condition at a time, but for hundreds of conditions at a time.

“I don’t know of another organisation that has put all these pieces together and who has the long-term true commitment, backed with dollars and cents, hearts and minds, and partnerships to be able to do this.”

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