Category: Genetic

Sotos syndrome, also known as cerebral gigantism, is an uncommon genetic disorder that manifests as an abnormal and rapid physical growth during infancy that extends until the age of three or four. This condition is often accompanied by developmental delays, necessitating ongoing assistance from therapists, counselors, and medical professionals throughout the affected individual’s life. It...

Uncommon genetic disorders are defined as diseases that affect fewer than 200,000 individuals. According to the National Institutes of Health, there are approximately 7,000 rare diseases, impacting around 25 to 30 million people worldwide. While most rare diseases are inherited, there are instances where these disorders occur randomly due to unusual gene mutations. Because pharmaceutical...

Batten disease, also known as neuronal ceroid lipofuscinoses (NCLs), encompasses a collection of neurodegenerative disorders characterized by lysosomal storage dysfunction. The impaired functioning of the lysosome, caused by a genetic mutation, triggers the accumulation of substances within the cell. Batten disease can arise from mutations in any of the 13 identified genes, and while specific...

Fabry disease is a genetic condition characterized by the buildup of a specific type of fat, called globotriaosylceramide, within the cells. The symptoms of this rare disorder can vary in severity, ranging from mild to potentially life-threatening, depending on the age of onset. While the exact prevalence in females is unknown, it is estimated that...

Waardenburg syndrome is a collection of genetic disorders that can lead to hearing impairment and alterations in the pigmentation of the eyes, hair, and skin. The severity and manifestation of symptoms can vary significantly among individuals. In recent times, scientists have made significant progress in identifying various genetic types associated with this syndrome, each exhibiting...

McLeod syndrome, also known as McLeod neuroacanthocytosis syndrome, is a highly uncommon condition that has been reported in only around 150 individuals worldwide. This syndrome primarily affects males and can have a profound impact on various parts of the body, including the red blood cells. Initially, researchers believed that the abnormalities observed in these blood...

Trisomy represents the most prevalent form of aneuploidy, which refers to conditions arising from an abnormal number of chromosomes. Specifically, trisomy refers to a group of conditions characterized by the presence of three copies of a particular chromosome, as opposed to the usual two. Normally, humans are born with two sets of 23 chromosomes, making...

Gaucher disease is an uncommon genetic disorder that impacts various tissues and organs throughout the body. This condition manifests in multiple forms, and the severity of symptoms can vary significantly depending on the specific type. While all types of Gaucher disease lead to complications in the bones and organs, certain variants also affect the brain,...

Adrenoleukodystrophy (ALD) is a rare genetic disorder that affects approximately 1 in 18,000 people. It is characterized by a defect in the metabolism of very long chain fatty acids (VLCFAs) in the body and brain. VLCFAs, which have at least 22 carbons, cannot be metabolized in the mitochondria, a specialized sac within eukaryotic cells. Instead,...

Epigenetics has been a topic of discussion in scientific communities for several years. Although there has been a surge of interest in the field since the early 2000s, research into epigenetics has a longer history. The controversy surrounding epigenetics is not a recent development either. With implications ranging from cancer diagnoses to the inheritance of...