Expert

Expert

Myoclonic epilepsy myopathy sensory ataxia

Myoclonic epilepsy myopathy sensory ataxia (MEMSA) is a rare genetic condition that affects the muscles and the nervous system. It is an autosomal recessive disease, which means that it is inherited when both parents carry the gene mutation. MEMSA is…

LDB3 gene

The LDB3 gene is a key factor in the formation of myofibrillar structures in muscles. Mutations in this gene have been linked to various health conditions, particularly myopathy. This gene plays a crucial role in the proper functioning of the…

ETV6 gene

The ETV6 gene is a part of the ETS family of transcription factors. It plays a crucial role in various biological processes, including cell growth, differentiation, and development. Mutations in the ETV6 gene have been associated with several diseases, including…

Breast cancer

Breast cancer is a form of cancer that affects the cells in the breast. It is one of the most common cancers among women, with more than a million cases diagnosed each year worldwide. The symptoms of breast cancer can…

FAM111B gene

The FAM111B gene is a protein-coding gene that is involved in several hereditary conditions. It is part of the catalog of genes known as the poiktmp gene family, which plays a role in various cellular processes. One of the main…

Larsen syndrome

Larsen Syndrome is a rare genetic condition that affects the development of bones. It is caused by alterations in certain genes and is generally present at birth. The syndrome is typically inherited in an autosomal recessive pattern, but in some…

Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder that affects the body’s immune system. In ALPS, the body’s immune cells, specifically lymphocytes, accumulate, leading to lymphoproliferation. This excess lymphoproliferation can cause a wide range of symptoms, including autoimmune disorders,…

TRNT1 gene

The TRNT1 gene, also known as CCA-adding tRNA nucleotidyltransferase 1, is a gene that is involved in the modification of transfer RNA molecules. Transfer RNA (tRNA) is a type of RNA molecule that is essential for protein synthesis in cells.…

1q211 microdeletion

1q211 microdeletion is a rare genetic condition that involves the deletion of a small piece of genetic material on chromosome 1. This condition has been the focus of a number of studies and research articles, with information about it available…

SLC5A1 gene

The SLC5A1 gene, also known as the SGLT1 gene, is responsible for producing a protein called sodium glucose cotransporter 1 (SGLT1). This protein plays a crucial role in the absorption of glucose and galactose from the intestine. Mutations or changes…