About Us

Pangenia, established in 2006 and a leading molecular diagnostic company in Hong Kong, recognises the lack of Asian focused rare disease genomic data and poor access to quality diagnostic services in Asia. Thus, in 2018, Pangenia started “Pangenia Rare Disease Genomes Project” where Pangenia aspires to build the first and the largest rare disease genomic database in Asia to provide a destination for timely and accurate diagnosis of rare disease to both patients, their doctors and their caregivers.


Since then, Pangenia has established its presence in the rare disease especially in the rare muscle disorder sector through building up genomic database and patient registry through diagnosed patients in Asia, R&D collaboration with Asian and US academia, investment in therapeutic treatment (FSHD/SMA/Satellite Cells for muscle regeneration) and building a service and support network with local and regional patient advocacy groups (PAG).


In 2021, Pangenia moved to the next phase of development to establish the first Asian center of excellence focus on rare disease – Pangenia Center of Excellence for Rare Diseases (PanRARE CoE), to provide patients, doctors, caregivers, scientists and pharma a destination to access quality diagnostic service, access to diagnosed Asian patients for research and development on better diagnostic tools and treatment, connect to doctors/scientists for secondary opinions or multidisciplinary consultations, and receive support from local advocacy groups connected to PanRARE CoE.

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Overview of PanRARE CoE

PanRARE CoE is located in Hong Kong, Asia’s central city. The Center’s mission is to help both paediatric and adult patients who suffer from rare diseases. For example, in the neuromuscular disorders area, the PanRARE CoE provides expert opinion and care for patients who already have been diagnosed and/or are at risk of developing muscular dystrophy. We provide expeditious diagnostic, therapeutic evaluation, treatment options and references on a broad range of neuromuscular diseases including Duchenne/Becker Muscular Dystrophy, Myotonic Dystrophy I/II, Spinal Muscular Atrophy, Spinal Bulbar Muscular Atrophy (Kennedy’s Disease), Facioscapulohumeral Dystrophy, Limb Girdle Muscular Dystrophy Variants, Emery-Dreyfuss Muscular Dystrophy and Multiple Congenital Manifestations Of Muscular Dystrophies.
PanRARE CoE provides a platform to connect patients, doctors, academia, key opinion leaders, drug discovery and development enterprises and Patient Advocacy Group that specialize in muscular dystrophies and other rare diseases in order to achieve fast and accurate diagnosis for patient-specific treatment, supportive services, research and education.

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Our Process

PanRARE CoE is dedicated to support both paediatric and adult patients affected with rare diseases in the Asia region. We start with FREE pre-diagnostic consultation mediated by our trained professionals to follow with comprehensive genetic test panel to support treating clinicians with accurate, patient-specific diagnosis and recommendation on therapeutic treatment. Furthermore, we connect patients with relevant sophisticated medical facilities and other resources including experts and patient advocacy groups to provide continuous support and therapeutic management of the specific condition. Our specialty at PanRARE™ includes genetic diagnosis of multiple orphan diseases including (neuro)muscular dystrophies, congenital myopathies and metabolic muscle diseases.

Our Vision

To provide patients diagnosed or experiencing symptoms of rare disease with one-stop, personalized, life-long support, guidance and access to relevant disease treatment and management options. We provide expert diagnostic services, treatment options, care and other disease management resources to both paediatric and adult patients regardless of the nature, genetic background, and stage and/or disease severity. We aim to deliver accurate and timely diagnostic information along with the respective patient-specific treatment plan.

Our Mission

Our mission is support all aspects of clinical diagnostics, research and patients well-being including accurate and robust disease diagnosis, planning of patient-specific clinical trials, day-to-day care, healthcare management and disease awareness in the Community with specific focus on the Asian region.

Our Team

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Dr. Rebecca HK Lee

Assistant General Manager

Over 10+ years of experience in molecular diagnostics industry; Former HKSTP fund assessment panelist; Former HKUST research project fund assessment panelist; Master of Philosophy at the University of Hong Kong; PhD at the National Institute for Basic Biology, Japan; Member of Hong Kong Society for Molecular Diagnostic Sciences Ltd

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Alex Kiselyov, PhD

Chief Scientific Officer

Over two decades of drug discovery and development expertise in pharma and biotech companies including Amgen, ImClone/Lilly, deCODE, Genea Biocells; diverse modalities in mid/late stages of clinical developments to treat oncology, CNS, metabolic and neuromuscular disorders with specific emphasis on rare diseases; over 170 peer-reviewed publications and over 60 granted patents and patent applications;

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Francis Tam

Vice President

Bachelor of Science (BSLA), the University of California Davis. Master of Business Administration (MBA) and Executive Master of Innovation Leadership (EMIL), Hong Kong Polytechnic University. Board member of a few affiliates’ biotechnology companies in Hong Kong and China. With over 20 years of working experience, he has led the project management, sales and marketing teams across a wide variety of industries.

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Patrick Law, PhD

Chief Scientist

PhD, M.Phil., PgD, and B.Sc (Hons), The Chinese University of Hong Kong. Over 14-year experience in operations and management of NGS core facilities. Senior Scientist of Pangenia Inc since 2016. Currently a team head of the Inherited Diseases and Reproductive Medicine team. Have solid experience in pre-implantation genetic testing and hereditary rare disease analysis.

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Danny So, PhD

Scientist

Oncology Scientist; Biomedical Scientist; Genetic Counsellor; PhD, M.Phil. B.Sc., The University of Hong Kong

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Ken Kwok, PhD

Laboratory Technical Manager

PhD. degree in the Department of Medicine at Hong Kong University; 5 years of overseas postdoctoral training; Well-trained and experienced in various laboratory skills including Next-Generation Sequencing (NGS), DNA/RNA/protein extraction and manipulations, molecular cloning and target gene expression, specimen sampling and histological work in different academic laboratories for more than 15 years; Published more than 20 scientific articles and is a Fellow of Institute of Biomedical Science and a Member of the Royal Society of Biology.

Our Advisors

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Charlie Emerson, Jr., PhD

Dr. Emerson is a key opinion leader in the field of muscular disorders. His research has focused on defining transcriptional networks and signaling pathways that control the specification and differentiation of skeletal muscle progenitors. Current studies utilize iPSC and xenograft technologies to model the molecular pathology of facioscapulohumeral (FSHD) and LGMD2i muscular dystrophies.

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Prof. Godfrey Chi-Fung Chan, MD, DMD

Tsao Yen-Chow Endowed Professor & Head, Department of Pediatrics & Adolescent Medicine, the University of Hong Kong; Chief of Service, Department of Pediatrics & Adolescent Medicine, Hong Kong Children's Hospital, HKU-Shenzhen Hospital & Gleneagles Hospital; Deputy Director, Stem Cells & Regenerative Medicine Consortium; Chief Commission Service Coordinator (Pediatric Oncology), Hong Kong Children's Hospital. DMD & MD, the University of the East

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Alan Colman, PhD

Alan was a part of the team that created Dolly, the first sheep cloned from an adult somatic cell. Dr. Colman served as CSO/CEO for ES Cell International, Executive Director of the Singapore Stem Cell Consortium and a Principal Investigator at the Singapore A*STAR Institute of Medical Biology. His main research interest is the development of human disease models using induced pluripotent stem cells. Dr. Alan Colman acts is a Visiting Scholar at the Harvard University Department of Stem Cell and Regenerative Biology.

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Prof. Joseph Wing-On Tam, PhD

Over 30 years of teaching and research experiences in the biotechnology and diagnostics sector. Professor Tam was a Visiting Professor at UCSF School of Medicine, Baylor College of Medicine and Medical College of Georgia. He was also a Scientist of National Institute of Health and an Honorary Associate Professor at School of Biomedical Sciences of The University of Hong Kong. He is the Founder and President of the Hong Kong Biochemistry Association.

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Prof. Kit S. Lam, MD, PhD

Dr. Kit Lam obtained his PhD. in Oncology in 1980 from McArdle Laboratory for Cancer Research, University of Wisconsin, and his MD in 1984 from Stanford University School of Medicine. He completed his Internal Medicine residency training and Medical Oncology Fellowship training at the University of Arizona. He is board certified in both Internal Medicine and Medical Oncology. He was on the faculty of the University of Arizona until June 1999, when he joined UC Davis School of Medicine as the Division Chief of Hematology/Oncology, a position he continued to hold until very recently. Beginning April 1, 2010, he became the Chair of the Department of Biochemistry and Molecular Medicine.

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Prof. Yuk-Lam Lo, PhD

Professor Lo holds numerous appointments as honorary professor, honorary fellow, adjunct professor, consultant and adviser in Hong Kong, mainland China and overseas universities. b He is currently the Chairman of the HKSAR Advisory Council on Food and Environmental Hygiene. In 2000, he was the first to be bestowed with the title of Honorary Fellow by the Hong Kong University of Science and Technology for his role in establishing Hong Kong’s biotechnology industry. Professor Lo holds an Honorary Doctorate of Philosophy in Business Management.

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Charles Martin, PhD

18 years experience in cell/stem cell biology focused on laboratory applications, scale up, assay development, production and automation; experienced in clinical regulatory and biosafety disciplines;

Our Partners