The diverse nature of genetic disorders

Welcome back to another post on my blog, this week we are discussing Sickle cell disease! (Credit: Sickle Cell Foundation of Minnesota) Sickle cell disease is the name for a group of inherited conditions that causes red blood cells (RBC) to become sickle-shaped, as seen in the image above. It most commonly affects people of African, Asian and Caribbean descent causing many complications due to a shorter lifespan and reduced flexibility of affected RBCs. This disease is caused by abnormal haemoglobin (Hb). Hb is the protein contained within RBCs and is responsible for transporting oxygen to cells in the body. Hb is composed of two alpha and two beta subunits (see below), which are encoded by two alpha-globin genes located on chromosome 16 and one beta-globin gene found on chromosome 11.  (Credit: Microbe notes) Sickle cell disease is the most common hemoglobinopathy, a single gene disorder that causes a defect in the globin chain structure. Normally there is no interaction between H...

Welcome back to my blog, this weeks post is all about Down syndrome! (Credit: Adobe) Down syndrome is the most common chromosomal disorder, affecting approximately 1 in 700 newborns. It is also known as Trisomy 21, caused by a third copy of chromosome 21. This disorder affects multiple bodily systems such as the cardiovascular, neurological, and musculoskeletal systems, and causes intellectual disability, characteristic facial features and growth retardation. Some common clinical manifestations and symptoms of Down syndrome can be seen in the image below.  (Credit:  Down syndrome - PMC (nih.gov) ) People with Down syndrome have an increased dose of genes on chromosome 21 due to an extra copy, and it has been discovered that just a few of these genes found on this chromosome play an essential role in the phenotype (observable traits) associated with the disorder, for example,  DSCR on 21q21.22. It is known that other trisomies are far more common than 21, but Trisomy 21 ha...

Hi, I’m Leila! I am a first class graduate of Biomedical Science on a mission to raise awareness of genetic disorders, and allow access to information to those who are interested in discovering more.  Welcome to my blog all about genetics. Credit: Britannica Every person on planet earth is unique, and we can thank our genetics for that. Genetics can determine our height, skin colour, hair colour and the way our body works. But do you truly understand what makes us different? Follow along and you might learn a bit about yourself and all those around you. Before we go further, it is important to know the basics! We all have 2 copies of each gene, one inherited from our father and one inherited from our mother. Most of our genes are the same, but a small amount can differ in the DNA sequence between person-to-person, and this is what makes us unique. When a mutation occurs to one or more bases in a DNA sequence, and genetic disorder can arise, as seen below. Credit: Cleveland clinic U...