Alzheimer’s disease, a devastating neurodegenerative disorder, affects millions of people worldwide. While the exact cause of Alzheimer’s remains uncertain, researchers have identified a strong link between genetics and the development of this disease. Understanding the role of genetics in Alzheimer’s is pivotal in developing effective treatments and preventive measures. One of the key players in […]
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Angelman Syndrome, also known as AS, is a rare neurodevelopmental disorder that affects approximately 1 in 15,000 individuals. It is characterized by severe intellectual disability, developmental delay, speech impairment, and a happy, sociable demeanor. AS is caused by a mutation or deletion of a specific gene on chromosome 15. The genetic cause of Angelman Syndrome […]
If you’re looking for a genetics lab near you, Ambry Genetics is a name you can trust. With their state-of-the-art facilities and cutting-edge technology, Ambry Genetics is at the forefront of genetic testing and research. Whether you’re seeking genetic counseling, carrier screening, or diagnostic testing, Ambry Genetics has the expertise and resources to meet your […]
Alport syndrome is a hereditary disorder that affects the kidneys and hearing. It is caused by mutations in the genes encoding type IV collagen, a major structural component of the glomerular basement membrane in the kidneys. This condition is characterized by progressive renal dysfunction, which can lead to end-stage renal disease and the need for […]
Genes are the fundamental units of heredity, embedded on the DNA, which carry information that determines our traits. These traits can range from physical characteristics, such as eye color and height, to more complex traits such as intelligence and susceptibility to certain diseases. DNA, or deoxyribonucleic acid, is a long double helix structure composed of […]
Seizures are a common symptom of epilepsy, a neurological disorder characterized by recurrent unprovoked seizures. While the exact cause of epilepsy is still unknown, it is widely recognized that genetics play a significant role in the development of this condition. Epilepsy is often considered a complex genetic disorder, meaning that it can be caused by […]
The American Society of Human Genetics (ASHG) is a leading organization in the field of genomics and genetics. Committed to advancing the science of genetics, ASHG plays a crucial role in promoting research, education, and collaboration among scientists, healthcare professionals, and the general public. With a rich history dating back to its establishment in 1948, […]
The actn3 gene, also known as the alpha-actinin-3 gene, is a gene that plays a crucial role in muscle function and athletic performance. This gene codes for a protein called alpha-actinin-3, which is primarily expressed in fast-twitch muscle fibers. The actn3 gene has been the subject of extensive research in recent years, as it has […]
The ALPL gene, also known as the alkaline phosphatase gene, plays a crucial role in the regulation of phosphorus metabolism. This gene is responsible for encoding the protein alkaline phosphatase, which is involved in the dephosphorylation of various molecules within the body. The ALPL gene consists of different alleles that can result in various mutations. […]
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder characterized by the development of numerous cysts in the kidneys. It is one of the most common genetic diseases worldwide, affecting millions of individuals. ADPKD is caused by mutations in the PKD1 or PKD2 genes, which encode for proteins involved in the structure and function […]