Accelerating Personalized Medicine for Children with Inherited Neurological Disorders
SECTION: CLINICAL GENETICS
Launch of the Emma Center for Personalized Medicine
Inherited neurological disorders are rare but collectively involve 8% of the population, including both affected individuals and family members providing care. These disorders can be severe and complex: examples include movement disorders, neuropsychiatric disorders, neuron peripheral disorders, and epilepsy.
Fueled by advances in genetics (i.e., sequencing technologies and gene therapies), the discovery of both the genetic causes and opportunities to treat these disorders are drastically increasing. But bringing new discoveries into the clinic is not that easy.
“Translation of novel treatments to patient care with guaranteed access and reimbursement is cumbersome and often unsuccessful at both the local and international levels,” says clinical geneticist, Dr. Mieke van Haelst. “This results in an unacceptable situation: novel treatments do not reach the patient, and there is lack of evidence-based care.”
“Let’s do it!”
To address these problems, the Emma Children’s Hospital has launched the Emma Center for Personalized Medicine, an initiative of Dr. van Haelst, Head of the section Clinical Genetics of the Department of Human Genetics, together with pediatrician Prof. Clara van Karnebeek, Professor of Personalized Medicine and Genetic Metabolic Diseases at Amsterdam UMC.
In the right place
Parents of children with rare hereditary neurological disorders often face a long and difficult diagnostic odyssey. Dr. van Haelst: “It is really important that patients are not sent from one place to another to reach a diagnosis. With the Emma Center for Personalized Medicine, we literally are offering one location where these people can come to.
“We thought if we could bring together all of the expertise at the Emma’s Children’s Hospital and Amsterdam UMC…all of the expert care paths and research programs…then, let’s do it!” says Prof. Van Karnebeek.
“We want to create synergy between scientists, doctors, paramedics, and patients and their families. By pooling all of this expertise in one center, we want to realize the dream of treating every child with a genetic disease as early as possible,” adds Dr. Van Haelst.
“This is the result of joining our forces – combining all of the knowledge we have available in the hospital with experts from many different disciplines from within the Amsterdam University Medical Centers.”
The early diagnosis of rare diseases in children is critical for improving their health and quality of life. In some cases, there may not be available treatments yet. For others, interventions are available, ranging from diets, vitamins, and repurposed medications to organ and stem cell transplants. Gene therapy and DNA editing is also on the horizon.
But even if a therapeutic intervention is not yet available, the diagnosis of more children with rare neurogenetic disorders increases knowledge of underlying genetic factors and provides more opportunities for finding novel or better treatments.
Bringing new knowledge to the patients
Prof. Clara van Karnebeek: “Our knowledge about hereditary neurological diseases is increasing quickly. But how do we bring that knowledge to the clinic where it can actually help patients?”
Another slowdown is, ironically, a side effect of the rapid increase in knowledge. Knowing more necessitates increasing specialization in both healthcare and research. This means different experts may have different pieces of the puzzle.
“We need to know what everyone else is doing. At the Emma center, we want to strengthen interactions between different experts and optimize our knowledge through sharing, so we do not miss opportunities and lose time. We need to see the big picture,” says Dr. Mieke van Haelst.
10 Doors Down
Dr. Mieke van Haelst shared a story showing the power of collaborating and sharing knowledge:
“For years, people have sought the genetic culprit of the rare Cantú syndrome. Child born with this disorder have a lot of hair, crude facial characteristics, and enlarged heart muscles. In the US, they found that these characteristics showed resemblance to the side effects of a medicine used to treat bald men to stimulate hair growth. When the gene was finally discovered (by researchers in Utrecht), it involved the same biological process that was affected by the baldness medicine.
“Normally, it takes years before new medicines go into clinical trials. But we are already beginning treatments for Cantú syndrome because we found an existing drug that we could repurpose, that targets the affected biological process. In this case, we could implement new knowledge much faster.
“What is also remarkable, a colleague that had worked on this gene for many years, but didn’t know Cantú disease, was 10 doors down the hall from the child physician who thought the problem might have something to do with the hair drug. They did not know about each other’s knowledge! That is exactly what we want to prevent at the Emma Center for Personalized Medicine.”
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