A decade ago three people picked up buckets filled with icy water and poured it over their heads, and so the Ice Bucket Challenge was born and fast became a global phenomenon, attracting some 17 million people to help raise awareness and money for Amyotrophic Lateral Sclerosis (ALS).
August 31st marked the 10th Anniversary of the Ice Bucket Challenge. BGI Group CEO and Executive Director, Dr. Yin Ye, who is also a long-time advocate of ALS research and other rare diseases, doused himself in ice water to complete the challenge and to take the opportunity to educate people about ALS and other rare diseases.
“The name rare disease makes it seem rare, but in fact, the total number of rare diseases exceeds 8,000, and if you add rare disease patients up, it's a huge amount.” explains Dr. Yin. “Similarly, if you can cure one rare disease, many people will benefit from it, which is why BGI focuses a lot of attention on tackling rare diseases such as ALS or Thalassemia,” he adds.
ALS is a complex disease as there does not appear to be one single cause. It can be inherited or it can be sporadic, and there may be multiple interacting causes, particularly in terms of people’s genes. For the more than 200,000 people living with ALS globally, the neurodegenerative disease affects motor neurons and gradually paralyzes them as their brain is unable to communicate with the muscles of the body. While the theoretical physicist, Prof. Stephen Hawking, survived 55 years with ALS, the average survival time for ALS patients is only three years.
The latest spatiotemporal technology, BGI’s Stereo-seq, is helping scientists reveal the inner workings of genes. With Stereo-seq’s large sequencing chip and 500mm resolution, scientists can map a full catalog of cell types and cell states, enabling them to examine individual cells and the relationship between them in a microenvironment, how they mutate over time and what their specific role may be in the formation of ALS.
However, because it is not always the same gene or a combination of genes that causes ALS, it is necessary to examine the genome of multiple ALS patients and also compare these to those of other family members.
This is the approach that BGI has focused on, working closely with Mr. Cai Lei, a former executive of JD.com and an ALS sufferer. Together, they launched a program in 2023 to provide a free whole genome sequencing and analysis program for patients with ALS.
“The first phase of the program sequenced and analyzed 184 samples from 74 family lineages,” explains Dr. Yin. “The results were encouraging and we found about six times more suspected gene loci than detected through traditional testing.”
With these encouraging results, BGI has expanded the testing and is providing free whole genome sequencing for 200 families. It’s also using the latest blood collection technology which is a lot more convenient than previous sampling collection techniques.
“The advances in high throughput sequencing and the emergence of more affordable genetic testing are accelerating the process of deciphering ALS,” says Dr. Yin.
Meanwhile, he encourages everyone to pay more attention to people with ALS and other rare diseases. “I hope they will enjoy more sunshine, more warmth and more love,” he says. “If our activities through the Ice Bucket Challenge and our expanded research into ALS can raise more awareness, I hope these activities will also encourage more people to support rare disease research.”
Source:
The ALS Ice Bucket Challenge: 10th Anniversary. The ALS Association.
Stages of ALS. The ALS Association.