Understanding Down Syndrome
Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It affects physical growth, facial features, and cognitive development. While each person with Down synd..
All about genetics
LATEST ARTICLES
10 facts about DNA
Every year on April 25th, DNA Day celebrates the discovery of DNA’s double helix and the advances we’ve made in understanding genetics. DNA, or deoxyribonucleic acid, is the genetic bluep..
Genetic causes of neurodevelopmental disorders: Insights from trio exome sequencing
Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients found that trio-exome sequencing (trio-ES) identifi..
Newly published study demonstrates insights in anti-EGFR re-challenge and the role of liquid biopsy in metastatic colorectal cancer
Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced stage. If not treated early, CRC can metastasize a..
Mapping human brain development: Insights into neural differentiation and disease risk
The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study offers a detailed map of this process, tracking h..
The diagnostic odyssey: The search for answers for rare diseases
Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a diagnostic odyssey, with an average wait of 4 to ..
Rosalind Franklin: In celebration of International Day of Women & Girls in Science (February 11)
Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to various areas of science – the most notable one being to the..
Timeline of cancer history and major discoveries
February, designated as Cancer Awareness Month, marks a time to reflect on the remarkable progress made in cancer research and to inspire hope for the future. From the earliest observations of abnorm..
Long-read sequencing for enhanced multidrug-resistant organisms’ surveillance
Antimicrobial resistance (AMR) is one of the most pressing global health threats, and accurate identification and surveillance of multidrug-resistant organisms (MDRO) are key to controlling its sprea..
Identifying novel genetic variations and effector genes linked with colorectal cancer
Colorectal cancer remains a significant health concern globally. While genetic factors play a crucial role in its development, identifying the exact genes and genetic variations involved continues to..
