EY1920 Year Book

21 20 Laboratory ResearchMethods - Methods for studying gene expression - Viral vectors used in gene therapy - Animal models involved in research Clinical research methods in chronic disease - Important components of a study / trial - Feasibility study - Qualitative research - Patient and public involvement Molecular basis of disease - Cell signaling pathways, eg. GPCR, tyrosine kinase, calcium, etc. - Diseases of the renal system - Molecular basis of cancer Diseases of the nervous system - Types of dementia - Hypoxic ischaemic encephalopathy - Vision impairment of children Research project: Renal function in early school-age children who underwent cooling therapy for hypoxic-ischaemic encephalopathy in the newborn period Staining of hypoxic pig kidney models - PAS, H&E staining - Immunohistochemistry staining o Apoptotic antibodies: Cleaved-PARP-1 o Tubular markers: SGLT2, AQP3 Human Proximal Tubular Epithelial Cell Culture - Immunofluorescence staining o Tubular markers: SGLT2, AQP3 Findings (1) Hypoxia ↑ tubular markers, ↑ cell proliferation (2) Hypothermia ↑ apoptotic & tubular markers ↑ Apoptosis & cell proliferation (3) Hypothermia ? paediatric renal function a. Urinary biomarkers b. Renal function tests MBBS Enrichment Year 2019/20 Chan Lai Yung Macy Full Year < IC - Intercalated degree at University of Bristol, UK > Chan Lai Yung Macy Others projects that I was involved in during my RA • Whole exome sequencing on paediatric patients with mitochondrial disease • Investigation of parental mosaicism in families with neuro-developmental disorders and genetic syndromes Over long weekends and Thanksgiving break, I explored downtown Chicago as well as New York City. I had a lot of fun hanging out with friends while hitting tourist spots and enjoying delicious food. I also visited different national parks during Christmas. Results and conclusion : A total of 404 PGT were requested from 2015 to 2020. The majority of patients underwent PGT-A, followed by PGT-SR. Among all indications that required PGT-M, alpha-thalassemia was the monogenic disease that had the largest patient population. In Hong Kong, PGT is increasingly popular. Since there are still limitations and risks regarding the use of PGT including high cost and unguaranteed success, families that wish to undergo PGT will require comprehensive genetic counselling and be educated on PGD and other related procedures such as prenatal diagnosis. I decided to try out a new sport during my exchange- rugby. Rugby seemed scary as it requires a lot of physical contact, but I was very fortunate to have met seniors who were eager to teach new players the basic techniques and even allowed us to play in a proper rugby 15s game against Loyola University. I thoroughly enjoyed being part of a team and we had fun events outside of practice too. I thoroughly enjoyed all my classes. I studied physiology, cancer biology and environmental policy. These classes were all taught in a very professional manner, and my lecturers were extremely inspiring and talented in their respective fields. I was particularly interested in environment policy which was something new to me. My classmates were very passionate about what they were learning inside and outside of class. I built amazing friendships and had an inspiring cultural exchange during my stay at Northwestern. The sense of community that was cultivated during my exchange is something I will cherish forever. All my friends, either fellow exchange students or full time students at Northwestern, inspired me with their life stories and aspirations. Our culturally diverse backgrounds surprisingly helped us forge bonds as we celebrated and learnt from each other’s differences. Introduction, aim, method : • A retrospective review of patients who requested to undergo preimplantation genetic testing (PGT) • Identify the main genetic conditions that call for PGT in recent years in Hong Kong • PGT aims to provide couples who have a risk of transmitting known genetic disorders or structurally abnormal chromosomes to their offspring, an alternative to prenatal diagnosis of detection for such conditions. This allows an earlier detection of genetic makeup of embryos in-vitro. • Three types of PGT: For monogenic (single-gene) disorders ( PGT-M) and for structural rearrangements ( PGT-SR): aim to establish pregnancies that are unaffected by known heritable genetic mutations carried by one or both biological parents, and unaffected by a structural chromosomal abnormality (translocation/deletion/duplication)respectively. For aneuploidy ( PGT-A): aims to avoid transfer of embryos which have been identified to have de novo aneuploidies. MBBS Enrichment Year 2019/20 Chan Lok San Kate Sem 1 < IC - HKUWW Exchange Programme at Northwestern University, US >; Sem 2 < R A - A retrospective analysis on patients seeking pre-implantation genetic testing (PGT) in Queen Mary Hospital, Hong Kong (QMH) from February 2015 to April 2020 at D e p artment of Paediatrics and Adolescent M edicine, HKU, Hong Kong > Chan Lok San Kate