Juni 13, 2025 – Dystrophic EB can be either dominantly or recessively inherited and involves defects in Type VII collagen. Blisters occur within the lower layer of skin, the dermis. There are two main subtypes, dominant DEB (DDEB) and recessive …
Recessive Dystrophic Epidermolysis Bullosa (RDEB) Read more »
March 10, 2025 – Does a gene variant shield against the COPA syndrome, a devastating inherited disease? The COPA syndrome is a recently described autosomal dominant inborn error of immunity characterized by high titer autoantibodies and interstitial lung disease, with many …
Does the gene variant HAQ-STING shield against the COPA syndrome? Read more »
February 11, 2025 – The MAO-A gene, popularly nicknamed the “warrior gene,” produces the enzyme monoamine oxidase A (MAO-A). It breaks down monoamine neurotransmitters (such as dopamine, epinephrine, and serotonin) through oxidation. Thus, mutations in the MAO-A gene can directly …
The Influence of the MAO-A Gene On Your Personality Read more »
December 30, 2024 – Transthyretin cardiac amyloidosis (TTR-CA) is now increasingly becoming recognized as an important cause of heart failure, and some studies have shown that as much as a third of diastolic heart failure could be attributed to TTR-CA. …
Uneven burden of cardiac amyloidosis in people of African descent Read more »
03 January 2024 – 23andMe is a personal genomics company out of South San Francisco, It is best known for providing a direct-to-consumer (DTC) genetic testing service in which customers provide a saliva sample that is laboratory analysed, using single nucleotide polymorphism …
December 29, 2023 – Alzheimer’s disease is a neurodegenerative human disease that occurs in its most common form in people over the age of 65 and is characterized by increasing dementia. It is responsible for approximately 60 percent of the …
Alzheimer’s: Are we at the beginning of a new era of treatment? Read more »
July 16, 2023 – For months, it has been considered the slimming miracle elixir: the pharmac0logically active ingredient Semaglutide. Semaglutide is a GLP-1 receptor agonist, which means it mimics the action of human incretin glucagon-like peptide-1 (GLP-1). This improves insulin …
January 08, 2023 – In precision and/or targeted medicine of today, physicians typically start out with the determination of the patients phenotypic expression of a disease (i.e., establish a clinical finding) and then go on into finding out the patients genetic …
Genomic variants traced forward to genetic disorders: A new approach? Read more »
December 11, 2022 – We’re all familiar with the five senses that allow us to experience our surroundings, namely sight, hearing, smell, taste, and touch. However, equally important but much less well known is the so called Sixth Sense. Sixth sense …
The sixth sense: Are there genes associated with it? Read more »
November 27, 2022 – About 3.5–5.9% of the world population are affected by a rare diseases. For Africa alone, this winds up to around 50 million possibly affected people, representing a large community of individuals and families in need of diagnostics …
Including Africa in the research on rare genetic diseases: A must! Read more »