Author: Edgar C. Johnson

Aromatic l-amino acid decarboxylase deficiency

Doctor talking to the patient about menopause and treatment in future.

Aromatic l-amino acid decarboxylase deficiency is a rare genetic condition caused by a deficiency in the enzyme aromatic l-amino acid decarboxylase. This enzyme is responsible for the conversion of various amino acids into neurotransmitters, such…

Chromosome 18

Shot of a scientist recording his findings on a digital tablet

The term “chromosome 18” refers to one of the 23 pairs of chromosomes in the human genome. Chromosomes are the molecular structures that carry genetic information in the form of genes. Each chromosome is made…

Skin Cancer Screening

The mid adult female doctor reviews her patient's records on her computer in her office.

Skin cancers are one of the most common types of cancers worldwide. Detecting them early is crucial for maintaining good health. Regular skin cancer screening is recommended to identify and treat any abnormal growths on…

Chromosome 19

Portrait of secretary working at hospital reception

Chromosome 19 is one of the 23 pairs of chromosomes in humans. It is a relatively small chromosome, spanning about 58 million base pairs (the building blocks of DNA) and containing around 1,500 genes. Chromosome…

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…

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,…

DOK7 gene

Doctor and nurse discussing over a medical report in hospital. Female mature doctor and nurse checking clinical report of patient online. Healthcare staff having discussion in a hallway of private clinic.

The DOK7 gene is a genetic variation that has been identified as being related to congenital myasthenic syndrome. This scientific finding has important implications for understanding and diagnosing this rare disease. The DOK7 gene is…