The 2023 version of the gene table of neuromuscular disorders (nuclear genome)

Genetic DisorderGenetic disorders are diseases or conditions caused by changes in an individual's DNA. These changes, known as mutations, can be inherited from parents or occur randomly during a person’s life. Some genetic disorders, such as sickle cell anemia and cystic fibrosis, result from single-gene mutations, while others, like Down syndrome, are caused by chromosomal abnormalities. Understanding genetic disorders helps scientists develop medical treatments, improve genetic counseling,...

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences  access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area. 
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the...

Human GenomeThe human genome is a human's complete set of genetic material (DNA). It contains all the instructions needed for growth, development, and function. The genome comprises approximately 3 billion DNA base pairs and 20,000–25,000 genes. Scientists study the human genome to understand inherited traits, genetic disorders, and how genes influence health and disease. The Human Genome Project, completed in 2003, mapped all human genes and has led to breakthroughs in medicine, genetic...

The nucleolus is the most prominent substructure of the nucleus. When it was first discovered, it was considered to be an isolated organelle that forms fibrils and granules. In 1931, the relationship between the nucleolus and chromosomes was first described by Heitz. He observed that the appearance and size of nucleolus varies depending on the stage of the cell cycle. He also noticed constricted regions on different chromosomes clustered together at definite cell cycle stages. These regions,...

Gene TherapyGene therapy is a medical technique that involves modifying or replacing faulty genes to treat or prevent diseases. This approach can be used to correct genetic disorders, enhance immune system function, or target diseases such as cancer. Gene therapy works by delivering healthy genes into a patient’s cells using viruses, nanoparticles, or other delivery methods. Scientists study gene therapy to develop treatments for inherited diseases and conditions caused by genetic mutations.