Blog

Atopic dermatitis

Young doctor asking senior impaired male patient in wheelchair to sign insurance policy at home. Handicapped elderly man putting his signature under surgery consent form, reading medical document

Atopic dermatitis is a common skin condition that affects a large number of people. It is considered to be a genetic disorder, as studies have shown that certain genes play a role in its development.…

CSF Immunoglobulin G IgG Index

Mid section group of young doctors in a meeting at hospital

The CSF Immunoglobulin G (IgG) Index is a test used to check for the presence of certain antibodies in the cerebrospinal fluid (CSF). It is often performed to help diagnose or monitor autoimmune diseases, such…

SLC26A4 gene

Cropped shot of a female doctor using a digital tablet

The SLC26A4 gene, also known as the Pendred syndrome gene, is a gene that is needed for proper functioning of the thyroid gland. This gene is associated with Pendred syndrome, a congenital disorder characterized by…

Smith-Lemli-Opitz syndrome

Female Scientist Working in The Lab, Using Computer Screen

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition that affects the development and function of many parts of the body. It is caused by mutations in the DHCR7 gene. This gene provides instructions for making…

Mosaic variegated aneuploidy syndrome

Beautiful young african american woman over isolated background smiling with hands on chest with closed eyes and grateful gesture on face. Health concept.

Mosaic variegated aneuploidy syndrome (MVAS) is a rare genetic condition characterized by abnormal chromosome sorting and the presence of aneuploid cells in various tissues. MVAS can cause a variety of clinical features, including growth retardation,…

Oculofaciocardiodental syndrome

Female Scientist Working in The Lab, Using Computer Screen

The Oculofaciocardiodental syndrome (OFCD) is a rare genetic condition that affects multiple body systems. It is also known as Radiculomegaly syndrome, Cardiodental syndrome, or Mohr syndrome. OFCD is characterized by the presence of several abnormalities,…

AGXT gene

Rear View Of Woman Working From Home On Computer In Home Office Stretching At Desk

The AGXT gene, also known as alanine-glyoxylate aminotransferase gene, is an essential gene responsible for the synthesis of the alanine-glyoxylate aminotransferase enzyme. This enzyme plays a crucial role in the metabolism of glyoxylate, an intermediate…

Pseudohypoaldosteronism type 1

A female pharmacist sits with a male customer in the pharmacist consultation area and discusses his prescription and choice of medication viewing the details on a digital tablet. In the background a senior woman and granddaughter stand at the dispensing counter and are served by a female pharmacy assistant .

Pseudohypoaldosteronism type 1 is a rare genetic condition that causes a loss of functioning in certain specialized cells in the skin, blood, and other tissues. This condition is associated with high levels of potassium in…

COL5A2 gene

Doctor talking to a happy Latin American family at the hospital - healthcare and medicine concepts

COL5A2 gene The COL5A2 gene provides instructions for making a protein called alpha-2 chain of type V collagen. This protein is found in connective tissues throughout the body, including skin, bone, tendon, and blood vessels.…

PAFAH1B1 gene

Young doctor asking senior impaired male patient in wheelchair to sign insurance policy at home. Handicapped elderly man putting his signature under surgery consent form, reading medical document

PAFAH1B1 gene The PAFAH1B1 gene, also known as LIS1, is a genetic sequence that plays an important role in the development and function of the human brain. Mutations or changes in this gene can cause…