Dr. Chan Hoi Shan Sophelia (陳凱珊)

MBBS(HK), MRCP(UK), MMedSc(HKU)(Core:Genetic Counseling), FHKAM(Paed), FHKAM(Paed), FHKCPaed

 

Clinical Assistant Professor

Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine,

The University of Hong Kong

 

Honorary Associate Consultant

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital

Department of Paediatrics and Adolescent Medicine, Hong Kong Children’s Hospital

 

Honorary Consultant

Department of Pediatrics, The University of Hong Kong-Shenzhen Hospital

 

Specialty

Paediatric Neurology

Developmental Behavioural Paediatrics

 

Contact

Tel: Fax: Email: Office:

(852) 22554090 (852) 22554089 sophehs@hku.hk Department of Paediatrics & Adolescent Medicine Room 115, 1/F, New Clinical Building 102 Pokfulam Road, Queen Mary Hospital, Hong Kong

 

ORCID ID: https://orcid.org/0000-0002-2990-0163

HKU scholar hub: http://hub.hku.hk/cris/rp/rp02210

Google Scholar ID: https://scholar.google.com.hk/citations?hl=zh-TW&user=rCiLb6gAAAAJ

Scopus ID: https://www.scopus.com/authid/detail.uri?authorId=27171508400

 

Research focus 

• Paediatric neuromuscular disorders: Dr Chan‘s team focuses on the study of rare neuromuscular diseases from genetic diagnosis, epidemiology to clinical outcome and impact from early treatment. She has established the Neuromuscular Disorder Patient Registries.  On the translational research aspects her team focuses on the use of patient-derived induced pluripotent stem cells differentiated to the affected target tissues as disease model to study the underlying disease pathogenesis and potential gene editing treatment.  She is also currently the principal investigator the clinical trials of spinal muscular atrophy and Duchenne muscular dystrophy in HK

• Paediatric immune-mediated neurological disorders: Dr Chan and the team diagnosed the first paediatric anti-NMDAR encephalitis in HK. Few years later, Dr Chan with Dr Ho and the team had reported a territory wide study on a local case series of paediatric patients with the anti-NMDAR encephalitis in HK showing that aggressive immunomodulating therapies in this group of patients led to a good neurological outcome. Beside autoimmune mediated encephalitis, she and her team is also studying the epidemiology and clinical outcome of patients with acquired peripheral neuropathies.

 

Recently Funded Research projects

• Clinical trials for Spinal muscular atrophy [on going, PI]
• Clinical trial for Duchenne muscular dystrophy[on going, PI]
• Comprehensive mutation analysis for childhood onset neuromuscular disorder in Chinese patients using Next Generation Sequencing Panels [HMRF Grant 2016-2018, PI ]
• Establishment of patient-derived induced pluripotent stem cells for X-linked dilated cardiomyopathy and differentiated to cardiomyocytes as an in vitro disease model to study the application of gene editing to restore the dystrophin level in the cardiac muscle cells  [Start up Research Grant and Seed Grant for Basic Research, 2017-2020, PI]
• Diagnosis of rare neuromuscular diseases with comprehensive immunohistochemical staining panel for muscle biopsies [Little Angel Foundation Donation Fund, SRDC, 2015 – 2020, co-PI]
• Development of a molecular diagnostic tool for patients with paediatric neuromuscular disorders [ Liu Po Shan/ Dr Vincent Liu Endownment Fund for Motor Neuron Disease 2019-2021, PI]
• A study of the expression and therapeutic potential of DLC1 isoform 1 in spinal muscular atrophy [Liu Po Shan/ Dr Vincent Liu Endownment Fund for Motor Neuron Disease 2019-2021, co-I]

 

Selected publications

 

Rare Neuromuscular Diseases

1. 中华医学会儿科分会内分泌遗传代谢学组、神经学组、康复学组全体委员（按姓氏汉语拼音排序）；常杏芝（北京大学第一医院儿科）；陈凯珊（香港大学玛丽医院儿童脑神经科）；李西华（复旦大学附属儿科医院神经内科）；罗小平（华中科技大学同济医学院附属同济医院儿科学系）；吕俊兰（北京儿童医院神经内科）；马祎楠（北京大学第一医院产前诊断中心）；秦炯（北京大学人民医院儿科）；阙呈立（北京大学第一医院呼吸内科）；沈定国（解放军总医院神经内科）；宋昉（首都儿科研究所遗传研究室）；王朝霞（北京大学第一医院神经内科）；王家勤（新乡医学院第三附属医院儿科）；许志飞（北京儿童医院呼吸科）；袁云（北京大学第一医院神经内科）；邹丽萍（解放军总医院儿科. 神经肌肉病患儿新型冠状病毒病疫情期间防控及管理建议[J].中华实用儿科临床杂志，ZhongGhua Yixue Zazhi. National Medical Journal of China. 2020，35(2)：125-129.DOI: 10.3760/cma.j.issn.2095-428X.2020.02.008.
2. Mandy HY Tsang*, Annie TG Chiu*, Bernard MH Kwong, R Liang, Mullin HC Yu, KS Yeung, Wetor HL Ho, Christopher CY Mak, Gordon KC Leung, Steven LC Pei, Jasmine LF Fung, Virginia CN Wong, F Muntoni, Brian HY Chung**, Sophelia HS Chan**. Diagnostic value of whole exome sequencing in Chinese paediatric-onset neuromuscular patients. Mol Genet Genomic Med. 2020 Mar 10:e1205. doi: 10.1002/mgg3.1205.
3. Chan SH*, Ho RS, Khong PL, Chung BH, Tsang MH, Yu MH, Yeung MC, Chan AO, Fung CW. Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients. Neuromuscul Disord. 2020;30(1):47-53. doi: 10.1016/j.nmd.2019.10.009.
4. Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE, Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG**, Shutt TE**. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol. 2019;138(6);1013-1031. doi: 10.1007/s00401-019-02059-z.
5. 中华医学会儿科分会神经学, 专家委员会成员（按姓氏拼音排列）：曹玲；陈凯珊；陈万金；戴毅；葛琳；洪思琦；黄真；李淳德；李海峰；李西华；梁芙蓉；吕俊兰；马祎楠; 彭晓音；秦炯；瞿宇晋；阙呈立；沈定国；宋昉；王朝霞；魏翠洁；吴丽文；吴士文；熊晖；许志飞；张成. 脊髓性肌萎缩症多学科管理专家共识. 中华医学杂志 二零一九年六月份刊. ZhongGhua Yixue Zazhi. National Medical Journal of China. May 21 2019. Volume 99, no. 19. DOI:10.3760/cma.j.issn.0376-2491.2019.19.006)
6. Ge L, Zhang C, Wang Z, Chan SHS, Zhu W, Zhang X, Zheng H, Wu L, Jin B, Shan J, Mao B, Zhong J, Peng X, Cheng Y, Hu J, Sun Y, Lu J, Hua Y, Zhu S, Wei C, Wang S, Jiao H, Yang H, Fu X, Fan Y, Chang X, Wang S, Bao X, Zhang Y, Wang J, Wu Y, Jiang Y, Yuan Y, Rutkowski A, Bönnemann CG, Wei W, Wu X, Xiong H*. Congenital muscular dystrophy in China. Clinical Genetics 2019;96(3);207-215. doi: 10.1111/cge.13560.
7. Liang R, Chan SHS*, Ho FKW, Tang OC, Cherk SWW, Ip P, Lau EYY. Health-related quality of life in Chinese boys with Duchenne muscular dystrophy and their families. J Child Health Care. 2019; 23(3):495-506. doi: 10.1177/1367493519857423.
8. Sophelia Hoi-Shan Chan* ,Nens van Alfen, Inger Johanne Thuestad, Janice Ip, Angel On-Kei Chan, Christopher Mak, Brian Hon-Yin Chung, Aad Verrips, Erik-Jan Kamsteeg. A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality. Neuromuscul Disord. 2018;28(9):750-756. doi: 10.1016/j.nmd.2018.07.002
9. Sophelia Hoi-shan Chan*, Ronnie Siu-lun Ho, Ivan Fai-man Lo, Amanda Nam-chi Kan, Kin-Shung Lun. X-linked dilated cardiomyopathy with mutation in the 5’splice site intron 1 of Dystrophin gene with Utrophin upregulation. Journal of Paediatric Neurology 2018;16(1):29-34 DOI: 10.1055/s-0037-1603997

 

Rare Neuro-immunological Diseases

10. Ho AC, Chan SH*, Chan E, Wong SS, Fung ST, Cherk SW, Fung EL, Ma KH, Tsui KW, Yau EK, Wong VC. Anti-N-Methyl-D-Aspartate Receptor Encephalitis in Children: Incidence and Experience in Hong Kong. Brain Dev. 2018;40(6):473-479
11. Chan SH*, Wong VC, Fung CW, Dale RC, Vincent A. Anti-NMDAR encephalitis with atypical MRI brain changes. Pediatric Neurology 2010;43(4): 274- 278. doi: 10.1016/j.pediatrneurol.2010.05.004.
     

See full list of publication
 

Clinical Service

• Provide paediatric neurology subspecialty consultation services and electrophysiological diagnostic services for both in-patients and out-patients with common and rare neurological conditions including epilepsies, neuroimmunological, neuromuscular, neurogenetic and   neurodevelopmental disorders.
• Lead the multi-disciplinary neuromuscular disorder program and the neuromotor rehabilitation program and the SMA nusinersen treatment program receiving referral from all over HK

 

Teaching
Dr Chan’s teaching philosophy is to enhance critical thinking, problem solving, knowledge discovery and teamwork. She is currently responsible for the teaching of paediatric neurological and neurodevelopmental disorders for the HKU medical students during their paediatric clerkships. She was previously the board member of the Developmental Behavioural Paediatrics Subspecialty Board and currently the board member of the Paediatric Neurology Subspecialty Board under the Hong Kong College of Paediatricians. She is currently the supervisor of 2 MPhil students (Ms. Zhu Sheng, MPhil 2018-2020 and Mr Yu Kwan Leung, MPhil 2019-2021). She had been the supervisor of numerous undergraduate students andvisiting fellows from the academic/ clinical institutes of the mainland and Macau.

 

 

Awards

 

Outstanding Team Award , Team Leader

• 2015 Outstanding Team : Team Leader of the ‘Paediatric Neuromuscular Disorder Diagnostic and Management Program’ awarded 2015 Hong Kong West Cluster Outstanding Team Award, Hospital Authority, HK
• 2016 Outstanding Team : Team Leader of the ‘Paediatric Neuromuscular Disorder Diagnostic and Management Program’ awarded the Hospital Authority Outstanding Team Award at the 2016 Hospital Authority Convention, HK
• Link: 香港 瑪麗醫院 大口環根德公爵夫人兒童醫院 兒童神經肌肉疾病診療服務
  Queen Mary Hospital and the Duchess of Kent Children's Hospital, Hong Kong -- Paediatric Neuromuscular Diagnostic and Management Program

 

Best Poster Presentation Award

• Generation of Induced pluripotent stem cells from Peripheral Blood Mononuclear Cells of an X-linked Dilated Cardiomyopathy Patient. R Liang, MR Deng, AHY Law, K Boheler, SHS Chan*, GCF Chan. The 2nd Joint Annual Research & Scientific Meeting 2018. Hong Kong. 28 Jul 2018. *[PI, Supervisor]
• Reliability and validity of performance of the upper limb module for Chinese patients with Duchenne muscular dystrophy: A new useful clinical tool to monitor the disease progress and as outcome measure for therapeutic drug trial. Chiu AYY, Choi SWC, Hui CKC, Li YS, Lee SL, Chan SHS*. The Joint Annual Scientific Meeting 2019 jointly organized by the HK Paediatric Society, HK College of Paediatricians, HK Paediatric Nurses Association, HK College of Paediatric Nursing. Hong Kong. 28 Sep 2019. *[Co-PI, Supervisor]

 

Best Free Paper Oral Presentation Award

• Congenital myopathies - Characteristic clinical features and subtypes in Hong Kong. Chan SHS*, Ho RSL, Chan AOK, Ip JJK, Wong S, Ng GSF, Lee HCH, Cheng Yue, Liu KT, Lee CN , Fung STH, Cherk SWW, Chan TSK, Lam WMW, Shek WH, Wong VCN. The 29th Annual Scientific Meeting of the Hong Kong Neurological Society on 5 Nov 2016 *[PI, Presenter]

 

HKU Overseas Fellowship Award 2018-2019

• Two months sabbatical training (Sept – Oct 2018) in the National Institute of Neurological Disorders and Stroke, National Institutes of Health (NINDS NIH) under Prof. Carsten Bonnemann and his team.

 

Representatives in Professional Societies

• Overseas: Executive Board Member of Asian Oceanian Myology Center since 2015  
  (Representative of HK)
• In HK: President of the Hong Kong Society of Neuromuscular Diseases since 2015  
  https://www.hksnmd.org/en/