Editor's note:
Today is the International Day of Rare Diseases, and with more than 6,000 rare diseases in the world, and with the deepening of research into genomics and precision medicine, we are finally able to demystify rare diseases. Although there are few individual cases of rare diseases, the number of people who predispose them is greater than we can imagine. Considering that rare diseases also have an impact on family members and caregivers, the number of people affected by rare diseases worldwide is as high as 1.4 billion, which deserves widespread attention from the whole society.
We sat down with Carl Owen, a father of a child with a rare disease, to share his personal experience and hope to help raise awareness of rare diseases, provide comfort to families with rare diseases, and inspire positive change. He said there were still many questions to be answered. As I experienced with my son Harry, there are a few hurdles we need to overcome in terms of cost, accessibility, and speed when using genomics and precision medicine to diagnose rare diseases. But it can also be seen that research on rare diseases is making exciting progress, giving hope to millions of people.
Advances in gene sequencing are expected to enable faster, more affordable, and more accurate diagnoses, with companies like MGI able to perform whole-genome sequencing for a single person for less than $100**. I'm excited to see that gene sequencing technology will change the diagnostic landscape of rare diseases.
Thank you to all the scientists, researchers, healthcare professionals, and everyone who works in the healthcare, diagnostics, pharmaceutical, and biotechnology fields for what you do is making the world a better place.
The full text of Carl Owen's statement is as follows
While a relatively small number of people are affected by a single rare disease, there is a wide variety of them, so the number of people with at least one rare disease (2.)6.3 billion to 44.6 billion) may be higher than you think, and because rare diseases also have an impact on family members and caregivers, rare diseases affect up to 1.4 billion people worldwide,1 which is quite a large number.
As a scientist, CEO of a medical writing agency, and a father of a child with rare diseases, I have been closely following the latest research in the field of rare diseases and genomics. On the occasion of International Rare Disease Day, I hope that the personal stories I share will raise awareness of rare diseases, give comfort to this community and their families, and inspire positive change around the world.
Facing a rare disease: it's like riding a roller coaster
There are few things in life that can be a turning point and affect your whole life. One of the things I did in my life was to present my biomedical research results to 100 experts at the University of Cambridge and defend my PhDAnother thing is that I brought my son Harry, who has a rare disease, into the world.
The latter became the ultimate violent shock wave. No matter how much science, education, or professional medical background I had, I wasn't mentally prepared for this. Until the shock subsided, and the uncertainty and helplessness in the heart began to set in. The doctor gave my son a vague answer after a blood test, a muscle biopsy, and a brain scan – Moebius syndrome.
Mobius syndrome is a very rare congenital neurological disorder in which the facial nerve is completely paralyzed, unable to close the eyes, control the movement of the eyeballs, or produce facial expressions. It is also often accompanied by limb deformities, such as club-shaped feet and finger shortages. ”
False Hope: More than Morbius Syndrome
A few months after Harry's diagnosis of Mobius syndrome, we gradually "got used to" the family's new way of life, and we began to face the future with a positive attitude. Despite the challenges, we believe that Harry will lead a relatively normal life, with the same physical, intellectual, and cognitive abilities as the average person.
But unsatisfactorily, he started to show some signs that we didn't expect, and we began to wonder: why can't he reduce the amount of milk, why is he so weak, why can't he communicate?
We found no results in a routine newborn screening that detected only a few genetic disorders, and we had no other technology available at the time. What we didn't expect was that not only did Harry suffer from Mobius syndrome, he was likely also suffering from an undiagnosed condition.
We experience false hope and are thrown back into the unknown. The geneticist we communicated with explained that the undiagnosed condition would require more genetic testing, but we would have to wait years to find an answer, if any.
Diagnostic and ** Rare Disease Challenges
Diagnosis and development of rare diseases are very difficult, and lack of research, knowledge and understanding often leads to misdiagnosis or delayed diagnosis. But more recently, genomics and precision medicine have revolutionized the field of rare diseases. The development of cutting-edge technologies has revealed the genetic code of many rare diseases and shifted the focus to personalized and targeted approaches.
Genetic testing includes several techniques that can identify genetic changes that cause rare or inherited diseases. ”2
"High-throughput sequencing technology allows physicians to take a unique approach to precision medicine for genomic applications through rapid sequencing of DNA and RNA. ”
CRISPR (clustered regularly interspaced short palindromic repeats) is another powerful tool that can edit, modify, or delete genomes with high precision, and has the potential to ** rare diseases by 'correcting' defective genes. ”4
While these technologies have revolutionized our understanding of the genetic basis of disease, as we saw in the case of our son Harry, we still haven't found all the answers, and rare disease care remains a challenge.
The ** of Mobius syndrome itself is not clear", 5 studies have shown that there may be a genetic component, which is why we decided to participate in a large-scale whole-genome sequencing study, they took our blood, we waited and waited. It took years to get the results, and while the study helped many find answers, unfortunately, we still don't know anything about the cause of Mobis syndrome and Harry's undiagnosed condition, and Harry's persistence** is full of unknowns.
High-throughput sequencing technology illuminates new hope
Although Harry's potential has not yet been identified, research into Harry's condition is underway and we are hopeful for the future. As technology advances, the affordability, accessibility, and speed of gene sequencing are improving, which paves the way for research into Morbius syndrome and other rare diseases. As more patients participate in the study, high-throughput sequencing technology may reveal the answer.
Even if we can't find an answer in the short term, I can appreciate the benefits of getting genomic test results quickly. For example, it helps to relieve the pressure of the unknown disease, and brings support to emotional **. Timely and precise intervention can also change the situation of patients and their families in many cases.
Early detection of rare diseases can also help doctors personalize** based on a patient's genetic information, assemble a multidisciplinary care plan, and build a comprehensive genomic database that may help others with the same disease. The results of the diagnosis can also make things other aspects of life easier, such as finding the right school, providing additional community services, and providing a basis for decision-making when planning to have another child.
To my surprise, the first human genome sequencing cost about $3.8 billion, and it took scientists from six countries 13 years to complete. 6
Now, companies like MGI are able to perform whole-genome sequencing of a single person for less than $100**, making genomics an essential part of precision medicine in rare disease healthcare. 7 As technology continues to advance, the throughput and cost of gene sequencing evolve at a rate of "ultra-Moore's Law" and these technologies can be widely used in all corners of the world, helping to close the global healthcare gap and the diagnostic and ** disparities.
Clearly, genomics has the potential to revolutionize the survival of rare disease patients and their families, and high-throughput sequencing technology plays a key role in this shift, further advancing faster, more cost-effective diagnostics and more effective initiatives.
By raising awareness and sharing our experiences, I hope to further research the genetic information of rare diseases and help rare disease patients and their families get the support, support, and answers they need.
As for my little Harry, we're doing just fine. After several surgeries, his condition improved. Now, he's a happy little guy with an innocent smile on his face beside me.
Reference 1 chun ccy, et al. rare disease emerging as a global public health priority. front public health. 2022;10:1028545.2. nhs. genetic and genomic testing. *ailable at: last accessed: february 2024.3. satam h, et al. next-generation sequencing technology: current trends and advancements. biology (basel). 2023;12(7):997.4. new scientist. what is crispr? *ailable at: last accessed: february 2024.5. zaidi smh, et al. moebius syndrome: what we know so far. cureus. 2023;15(2):e35187.6. national human genome research institute. the cost of sequencing a human genome. *ailable at: last accessed: february 2024.7. mgi tech. home. *ailable at: last accessed: february 2024.·