Team:HK HCY LFC/Human Practices
Human Practice
Spinocerebellar Ataxia (SCA)
2018/04/19
Fig. 1 Visiting Professor Chan Ho-yin Edwin, Associate Vice-President of CUHK, Expert in SCA Research (First)
Professor Chan Ho Yin Edwin, Associate Vice-President of the Chinese University of Hong Kong, is a professional in studying SCA. He and his team have been working on a research project on genes using fruit flies for many years, contributing a lot ranging from mechanisms of disease to drug development. In close collaboration with doctors and patient associations actively, he aims to raise community awareness of this rare disease. He even spent 8 years to edit the SCA patient name list in Hong Kong.
Students of Tsuen Wan Public Ho Chuen Yiu Memorial College and Po Leung Kuk Laws Foundation College join together to take part in iGEM (International Genetically Engineered Machines competition). They do research with the theme of "new method in the diagnosis of spinocerebellar ataxia". They aim to use biosensors to detect biomarkers and establish an experimental basis on SCA. As a result, students conducted an interview with Professor Chan at the Chinese University of Hong Kong and discussed the direction of research.
Student: Will SCA be passed on from generation to generation?
Professor Chan: SCA is caused by gene mutation. There are totally 42 types of gene mutations which lead to the onset of SCA patient. Actually SCA is a disease which can be inherited from parent. The onset of the disease of each generation will become earlier and earlier. In the end, usually the next generation will have already died during the embryonic development.
Student: What is your view on SCA?
Professor Chan: I thought that SCA is a devastating and terrible disease. For example, patients cannot control their body movement (facial expression, limbs), which means that they can't express themselves freely. It brings a lot of harm to them.
Student: What is the situation of spinocerebellar ataxia in Hong Kong?
Professor Chan: This was one of my aims to do study in Hong Kong. In 2001, I read newspaper on the plane and found that there was a doctor doing study on SCA and curing SCA in Hong Kong. This surprised me. In the newspaper, it was reported that the onset of some SCA diseases was due to gene mutation. After that, I came back to Hong Kong from USA, but I got no chance to contact with any SCA patients until 2009. Through a TV program called "My 2009", I realized that there has been Hong Kong Spinocerebellar Ataxia Association (HKSCAA) in Hong Kong. I started to be able to meet more SCA patients as there have been over 100 members in HKSCAA. It is estimated that there are 250-280 SCA patients in Hong Kong by referring to the inheriting chance of SCA in Taiwan. However, not all the members in HKSCAA are suffering from SCA. Starting from 2001, I spent 2 years to diagnose and identify these patients. Finally, about 30 SCA patients are found, which is only one-eighth of the SCA patient population. Up till now, around 70 to 80 SCA patients have been found in Hong Kong.
The purpose of my work is not only for medical development, but also to care for patients by providing them with respect and positive energy. Moreover, through my social research, I want to let the government understand the needs of these patients, so that those in need can get more resources and help. In addition, there are 5,000-8,000 rare diseases worldwide. In order to help patients fight for their rights, there is Hong Kong Alliance for Rare Diseases in Hong Kong, which raises public awareness of patients suffering from rare diseases.
Furthermore, if the gene mutation is known, patients can know whether they have the disease-causing genes before suffering from it. However, gene mutations of some genetic diseases are still unknown. Therefore, it took me three years to compare the exomes of patients with their healthy family members by exome sequencing, in order to find the causative genes of SCA.
Student: What can be done to slow down the deterioration of SCA patients?
Professor Chan: Slowing down the deterioration of SCA patient, IONIS, a USA pharmaceutical factory, is carrying out the clinical first stage of testing medicine. Their project is gene silencing. Targeting on one gene, they carry out gene silencing for SCA. Some medical inventions are also in progress in Hong Kong. Scientists want to help patients in different ways. For instance, in order to help the people who speak with a lisp, they invite patients to record a speech and investigate their problems in pronunciation. They can teach them how to pronounce in a correct way. Another development is that recording their own voice before they can’t speak due to the deterioration of diseases. Their own voice can be used to simulate daily conversations. Moreover, they also aim to devise an app for SCA patients. Patients can type words and use tablets to show pictures in order to express what they want to say. The process of drug development requires at least ten years, while the technology can help patients to solve their problems in their daily lives in a faster way.
Fig. 2 Students Asking Suggestions from Professor Chan for the Project
Student: Why did you choose fruit-flies for your studies?
Professor Chan: I was mainly inspired by my university professor with luck. I studied the cell activities which can let me do the research with the professor. And my professor and I finished the research on SCA Type 3 in US with fruit-flies. Moreover the fruit-flies can also simulate the over expression of “CAG” disorderly in the DNA, which I am still using in my studies.
Student: What are the criteria of choosing an animal disease model?
Professor Chan: There is no perfect animal disease model. We should choose suitable animal disease models, depending on what to investigate in and what problems to be solved. We should also consider the time, the size of the laboratory and the cost. Usually, more than one type of animal disease model is used. Base on different features of the animal disease models, different researches and experiment can be done to get more accurate data. The results will be hence more reliable. Depending on features of the disease, a suitable combination of animal disease models should be chosen.
Student: What difficulties have you faced during your studies and how did you overcome them?
Professor Chan: One of the difficulties I faced was that rarely could I find SCA patients in Hong Kong. Besides, people in Hong Kong also didn’t know much about SCA. Therefore, I couldn’t have interaction or communication with the patient for my studies on SCA. Luckily, I met some in hospital and some associations who agreed to give support to my studies. Through this cooperation, I could have more data collected and understand more about the real situation of SCA patients face.
Furthermore, I also suffered financial problems during my studies. But I still continued, using my own saving to buy apparatus and animals samples. There were three essential elements which made me succeed today. Being active, try everything and be persistent.
Student: What method can be used to test for brain degeneration?
Professor Chan: Using nowadays technology, different biomarkers in blood can be tested by blood drawing so that we can know that what disease the patient has. Nevertheless, brain degeneration cannot be diagnosed by craniotomy, which is too invasive and high-risk. Therefore, collecting cerebrospinal fluid (CSF) is a better method to test for brain degeneration since it is less invasive. CSF passes through the brain and has a direct contact with the brain. Some substances like proteins and RNA molecules may have dissolved in CSF. So collecting CSF can test the quantity change of these substances and hence diagnose whether the patient has the disease. Collecting CSF can be for early detection after having first-line checking, which means having questionnaire with the patient. By comparing the CSF collection and questionnaire results of patients with normal people, a data bank is formed, which helps diagnosis. On the other hand, there is metabolite biomarker. It is a biomarker having predictability by comparing the composition of the metabolite. Besides, there is another type of biomarker. It is biological reagent which can be edible or for injection. When the reagent reaches the brain, we can observe whether the brain has the symptom of degeneration by imaging.
Student: Our team has joined IGEM and we aim to design a DNA nanostructure to test for neurodegenerative disease. Can you give us some advice?
Professor Chan: You should demonstrate that your idea is better than the others, and the advantages of your idea such as faster diagnosis, higher accuracy and low cost. It is easier for you to carry out investigation related to diagnosis rather than treatment. Method used to test DNA is standardized. You may consider the advantages of your diagnostic method. You should think of a structure which can act as a specific and effective biosensor in order to facilitate the detection of the diseases. You should find out a specific miRNA which its amount has a direct correlation with the different stages of a specific disease.
Click HERE to read the newspaper from STANDNEWS relating to this interview.(Chinese)
2018/07/04
Fig. 3 Visiting Professor Chan Ho-yin Edwin, Associate Vice-President of CUHK, Expert in SCA Research (Second)
On 4 July 2018, the IGEM team members of Tsuen Wan Public Ho Chuen Yiu Memorial College and Po Leung Kuk Laws Foundation College interviewed professor H.Y. Edwin Chan of CUHK.We have discussed the aim and the impact of our project, the procedures of experiments and the results. We are very delighted and thankful to the support from professor Chan. Professor Chan gave us lots of informations about SCA3 and advices about our project, which give us more confidence to get a better result.
Professor Chan mentioned that miRNA will keep increasing or decreasing during the illness.Also, Professor Chan said that by DNA sequencing, we can tell that there are variations in the length of CAG in different cells,but this does not affect the progress of SCA3.He stated that after the DNA become longer,the concentration of miRNA will then change and hence will affect gene expression and this will aggravate the symptoms. We should test the concentration of miRNA instead of the length of CAG to check the progress of SCA3.
Professor Chan suggested a model to predict the stages of SCA3.However, he said that we cannot get a very accurate data from the patients as the initial symptoms of SCA3 are not obvious.Therefore,we may be faced with a lot of troubles when doing data analysis and building a model.Professor Chan also reminded us to focus on the substance which will degrade the miRNA and why this substance will only appear in the patients of SCA3.
Professor Chan claimed that the age of onset would be younger if the patients’ parents had SCA3.He said that the kids of the patients will inherit the expanded CAG sequence from their parents and even expand it longer,e.g, if parents have 40~50 pairs, the child would have 60~70 pairs. The longer the length of CAG sequence, the faster the patient have their age of onset. Professor Chan mentioned that SCA can be caused in many ways. SCA1,2,3,6,7,17 can be caused by the CAG expansion. There is no obvious casual relationship between alcohol abuse and the extension of CAG. Doctors will do tests to determine if the patient has spinocerebellar atrophy with unknown cause or SCA.
Professor Chan was interested in the studies of nanomachine which are new to him,for example polyacrylamide gel electrophoresis (PAGE) to examine formation of nanostructure and Peroxidase assay in detecting the formation of G-quadruplex.
Thus,he provided the following suggestions for our future plan:
·Further integrate our work on human practise, experimental results and present the project in a much better way and focus on the diagnostic method instead of the treatment.
·Consider more about the specificity of the diagnostic test as it is possible that more than one miRNA can bind with the DNA nanostructure and form G-quadruplex.
·Compare the use of DNA nanostructure as a biosensor with the conventional diagnostic method. We should find out and consider the advantages of our method.
Click HERE to read the newspaper from STANDNEWS relating to this interview.(Chinese)
2018/08/29
Dr. Fernando Cheung Chiu-hung, a member of the Legislative Council, has spent most of his life concerning about the rights of the patients, and drawing policy makers’ attention to the SCA patients’ demands and rights.
Life is tough for patients with SCA and there is no hope of recovery now. We cannot deny that SCA patients experience a decline in their quality of life and daily activities.
Fig. 4 Our team members interviewed Dr. Cheung
Dr. Cheung claimed that "cost-effectiveness" is the major concern of the government. As SCA patients are the minority, their needs are often ignored. Therefore, it is urgent to enact the laws related to the needs of the patients with rare diseases and strives for his best to improve the healthcare system in Hong Kong.
Dr. Cheung told us if we want to draw public attention, we should let the public know the problem first, and let government officials understand the urgency of the situation. The most effective way to influence the public is to let the patients and their family members tell the story themselves. The public will see how the rare diseases patients are still trying to live for a meaningful life.
He believed that we can influence the public. He hopes our team can exert greater influence and ultimately promote the whole society to care about the situation of rare diseases patients in Hong Kong.
2018/08/07
Fig. 5 Meeting with the Committee Members of Hong Kong Spinocerebellar Ataxia Association
Tsuen Wan Public Ho Chuen Yiu Memorial College (HCY), together with Po Leung Kuk Laws Foundation College (LFC) invited Hong Kong Spinocerebellar Ataxia Association (HKSCAA) to hold a workshop in HCY .Patients shared their personal experiences and feelings after their onset of SCA . The skills and tips of handling a wheelchair were also taught by the Chairperson , Mr. Ho and the Vice Chairpersons , Mr.Tsang and Ms.Cho.
At the beginning we introduced the aim and progress of the IGEM project to the guests .After that ,Mr.Ho and Ms.Cho introduced the vision and mission of the association ,and the difficulties faced by the patients .We knew more about each other,such as personal interests, through the ice breaking game .We then chatted about their difficulties in daily life ,for example speak with extra efforts ,fail to walk and sit normally, and feel to be isolated.The booking of the rehabus has to be made half or one year before use otherwise they would have to use the expensive services provided by Syncab . Narrow streets in Hong Kong also made the patients feeling uncomfortable as the street walkers think that the wheelchair is too big and occupy too much space of the street .Patients cannot find a restroom to use easily in HK when they are going out .Accessible restroom ’s design is not user-friendly and meets the needs of the patients .They have to overcome the step at the entrance. Some citizens may also occupy and utilize the accessible restroom just because of their convenience.
After sharing ,students learnt the skills of handling the wheelchair and how to take care of the SCA patients. As volunteers are always needed during activities organized by HKSCAA ,those skills can equip us to act as volunteers and help the SCA patients .
This workshop can widen our horizon and inspire us to use our scientific knowledge to help the people in the society . We are determined to spend our time and energy on this IGEM project and figure out the alternative diagnostic method for SCA.
Fig. 6&7 SCA Patients Sharing Their Difficulties in Daily Life, Students Get to Know the Real Situation of Patients
Click HEREto read the newspaper from STANDNEWS relating to the workshop. (Chinese)
2018/09/28
Hong Kong Spinocerebellar Ataxia Association was invited to give a talk in Tsuen Wan Public Ho Chuen Yiu Memorial College. Students from Form 5 and 6 participated in this talk during the life education lesson. The HKSCAA shared a lot about the vision and mission about the association, as well as the difficulties encountered by the patients. This has raised students’ awareness on rare diseases.
We were very honored to invite two SCA patients to give a sharing to us. One of them studied information technology in USA. It was very difficult for him to speak, but he still tried his very best to share with us. He hoped that there would be a method to cure SCA as soon as possible. This really encouraged our students. Another one is a young lady. She has lost the ability to speak already. She shared her point of view towards life and hoped her sister can live happily and positively. This two sharing and the talk has helped students to build a positive attitude towards life and encouraged them to overcome the difficulties in their life.
Fig. 8&9 HKSCAA giving a talk in Tsuen Wan Public Ho Chuen Yiu Memorial College in collaboration with our iGEM team members
Before and after the talk, questionnaires are distributed to our classmates so as to figure out the effect of the sharing. Before the talk, about 82% of student do not have much idea on SCA and 83% of them do not understand the needs of SCA patients; after the sharing, more than 80% of students have a more clear and comprehensive understanding on SCA. Although students do not know much about how to help the SCA patients before the talk, most of them are more willing to lend a helping hand to SCA patients after knowing the difficulties faced by the patients. Many students have expressed that they enjoy listening to the experience and the sharing of the SCA patients and have an impressive feeling about the talk.
Fig. 10 Results of the questionnaires before and after the talk
Moreover, we met with the IGEM team from the Chinese University of Hong Kong (CUHK). We shared our project ideas, discussed our difficulties and criticized the experimental results of each other. The CUHK iGEM team also shared their previous experience which could improve our project.
Fig. 11 Meeting with CUHK iGEM team
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