Registration - YIF Research Day & Cultural Networking Dinner (21 Feb 2023)

Poster LIST for the YIF Meeting 2023

Poster

Presenter

Next-generation sequencing reveals low-abundance HIV-1 drug resistance mutations among patients experiencing virological failure at the time of therapy switching in Uganda -

Maria Magdalene Namaganda

Genetic Predictors of Hypothalamic-Pituitary-Adrenal Suppression in Children on Corticosteroid Treatment

Wisdom Akurugu

Studying the CDH1 c1901C:T pathogenic variant in Portuguese families to identify  hereditary diffuse gastric cancer genetic modifiers

Rita Ana Matos

GYPB Gene Deletions (DEL1 and DEL2) distribution in selected Malaria endemic African countries and relationship with Malaria susceptibility

Dominic  Amuzu

Population WGS-based Spinal Muscular Atrophy Carrier Screening in a cohort of 1076 healthy Polish individuals

Magdalena Mroczek

Long-read RNA-sequencing identifies novel potentially protein coding transcripts of genes causing inherited cardiomyopathies

Rhys Dore

Designing and evaluating the utility of a panel of de novo mutation enriched genes for diagnosing South African patients with developmental delay

Patracia Nevondwe

Impact of donor CYP3A5 genotype on pharmacokinetics of tacrolimus in South African paediatric liver transplant patients 

Caitlin Wheeler

Genetics of Monogenic Diabetes in Tunisia : Molecular diagnosis and clinical challenges

Nadia Kerinji

The utility of clinical exome sequencing as a first-tier diagnostic tool in critically ill infants in South Africa

Campbell Lisa

The odyssey of diagnosing a very rare genetic disorder. A case report of a patient with KBG syndrome - Ileana -

Delia Sabau

Inherited ophthalmic diseases in the European Union – state of the art in 2023

Elena Avram

Genetic Testing for Inherited Cancers in Patients within the Private Healthcare Sector of Johannesburg, South Africa

Tasmyn Scriven

Optimisation of assays to detect T cell responses to SARS-CoV-2 and Human Leukocyte Antigen frequencies in vaccinated and unvaccinated health care workers –a pilot study

Nicole Chicken

Diagnosing South African patients with neurodevelopmental disorders using whole exome sequencing

Rafiya Ismail

Whole exome sequencing reveals the first patients from Sub-Saharan Africa with confirmed Arboleda-Tham syndrome

Alannah Rene Theron

A comparison of genotype-phenotype associations across populations

Mellie Msipa

Evaluating the accuracy of genotype imputation in the Human Leukocyte Antigen region in selected African populations

Ruth Nanjala 

Tissue-specific genetic predisposition to stroke and risk for neuropsychotic and cardiovascular disease

Winfred Nyoroka Gatua

Genomic Characteristics of Rett Syndrome Modifier Genes

Alana N. Slike

Genomic characterization of Huntington disease genetic modifiers informs drug target tractability

Kevin Lucy Namuli

The collaboration between the European Society of Human Genetics-Young Committee (ESHG-Y), UNIQUE and ERN-ITHACA: increasing the knowledge on rare genetic disorders for non-native English speakers

Juliana Xavier de Miranda Cerqueira

Returning Individual Genetic Results to Research Participants: Experiences of Stigma in South African Families with Neurodevelopmental Disorders

Nolene Chetty

Medical Practitioners’ use of Genetic Counselling services in Cape Town

Willem Pretorius 

Personal values versus professional role: Healthcare professionals experiences with offering termination of pregnancy for fetal abnormalities

Malebo Malope

GSTM1 and GSTP1 polymorphisms as pharmacogenetic markers for relapse and peripheral neuropathy among African cervical cancer patients on cisplatin treatment

Oppah Kuguyo

Sanger validation of whole exome sequencing identified variants - Assessing the need for validation in an African settling

Mhlekazi Molatoli

Evaluation of Gene Therapy Research and Interventions for Sickle Cell Disease: A Call to Action for African Scientists

Khuthala Mnika

Utilizing Next-Generation DNA Sequencing Technologies to Reduce the Impact of Lynch Syndrome and Colorectal Cancer in South Africa -

Ramadhani Chambuso

Characterizing mosaic chromosomal alterations in an African cohort

Jonathan Evans

Optimization of the Sodium Carbonate Precipitation Protocol for Protein Identification in Dried Blood Spots of Sickle Cell Patients

Bodunrin Olaseni Ottua

An audit of patients seen by genetic counsellors for a history of recurrent miscarriages

Zandisiwe Goliath

Association of p53 Gene Codon72 Polymorphism (rs1042522, C.G) and Risk ofChronic Myeloid Leukemia among Patients Attending Khartoum Oncology Specialized

Tanzeel-Alshazzali

A novel missense variant in CLPP gene causing Perrault syndrome in a large Sudanese family

Babai Arwa

The relationship between blood groups and HIV infection in a South African population

Diseko Lerato

Recurrent variants in subunits of the Human Mediator complex affect brain development and lead to severe neurodegenerative and neurodevelopmental disorders

Elisa Cali

Allele Specific Expression in Active TB in HIV positive pediatric individuals in Eswatini, Botswana and Uganda

Mthande Sibonakaliso

What effect for the APOE epsilon polymorphism on the lipid profile in Algerian population, thirteen years later

Houssam Boulenouar

A Pilot Study of Dry Tube Samples of GeneXpert MTB/Rif/ Ultra Proficiency Test at Tanzania Central Tuberculosis Reference Laboratory

Maryjeska Mafie

Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa

Mbayabo Gloire 

Identification of promising high affinity inhibitors of SARS-CoV-2 main protease from African natural products Databases by Virtual Screening

Oudou Diabate

Breast cancer and smell: Hints from epigenetic and functional alteration of the olfaction

Reem Hamad

Investigation of Cystic Fibrosis Research Participants’ Understanding of the Genetic Nature of the Disease and the Consent Process

Lisa Mahlaba

In silico analysis of protein-protein interaction networks between Human and Plasmodium falciparum for the design of vaccine candidates

Fatoumata Gnine  Fofana

Posters selected for Speed Talks

(describe the purpose of your study/summarize your research question)

2 min - 10 people 

Poster

Presenter

Next-generation sequencing reveals low-abundance HIV-1 drug resistance mutations among patients experiencing virological failure at the time of therapy switching in Uganda -

Maria Magdalene Namaganda

Genetic Predictors of Hypothalamic-Pituitary-Adrenal Suppression in Children on Corticosteroid Treatment

Wisdom Akurugu

Studying the CDH1 c1901C:T pathogenic variant in Portuguese families to identify  hereditary diffuse gastric cancer genetic modifiers

Rita Barbosa-Matos

GYPB Gene Deletions (DEL1 and DEL2) distribution in selected Malaria endemic African countries and relationship with Malaria susceptibility

Dominic Amuzu

Population WGS-based Spinal Muscular Atrophy Carrier Screening in a cohort of 1076 healthy Polish individuals

Magdalena Mroczek

Long-read RNA-sequencing identifies novel potentially protein coding transcripts of genes causing inherited cardiomyopathies

Rhys Dore

Designing and evaluating the utility of a panel of de novo mutation enriched genes for diagnosing South African patients with developmental delay

Patracia Nevondwe

Impact of donor CYP3A5 genotype on pharmacokinetics of tacrolimus in South African paediatric liver transplant patients

Caitlin Wheeler

Genetics of Monogenic Diabetes in Tunisia : Molecular diagnosis and clinical challenges.

Nadia Kerinji

The utility of clinical exome sequencing as a first-tier diagnostic tool in critically ill infants in South Africa

Campbell Lisa