Genetic testing of thalassemia – carrier screening and NIPT
Derived from the Greek words for sea (θάλασσα) and blood (αίμα), thalassemias are a group of inherited, genetic blood disorders. Thalassemias occur when the production of hemoglobin, ..
Hereditary diseases
LATEST ARTICLES
Are food allergies genetic? How to test for the most common food allergies?
A food allergy is a medical condition in which exposure to certain foods can trigger a harmful immune response. This allergic reaction occurs because the immune system attacks certain food proteins w..
What is polycystic ovary syndrome and how does it affect fertility? Causes, symptoms, treatment and genetic testing
Healthcare systems around the world should be encouraged to make polycystic ovary syndrome a priority in women’s health checks. Polycystic ovary syndrome (PCOS) affects 1 in 10 women worldwide and ..
Porphyria: the facts behind the so-called vampire disease
Vampires have existed in myth and folklore for hundreds of years and have a well‑established place in popular culture. Just look at the Halloween costumes on sale at this time of year and you will ..
New genetic etiology in teenage-onset colorectal cancer identified
Colorectal cancer (CRC) in adolescents and young adults (AYA) is rare. Genetic causes include autosomal recessive and dominant monogenic disorders due to pathogenic variants (PVs) in genes involved i..
Two epigenetically distinct types of obesity identified
Scientists have discovered two distinct types of obesity with physiological and molecular differences that may have lifelong implications for health, disease, and drug response. The study, published ..
Medicover Genetics posters at ESHG 2022
Medicover Genetics attended the 55th edition of the largest genetics conference in Europe, European Human Genetics Conference, held in Vienna, from 11 to 14 June 2022. The main goal of the confe..
Ehlers-Danlos syndrome (EDS): types, symptoms, causes and genetics
Ehlers-Danlos syndrome (EDS) is not one syndrome but a group of clinically and genetically heterogeneous connective tissue disorders. There are currently 13 EDS subtypes that vary in worldwide preval..
Role of genetics in reproductive health
Infertility is a major public health issue with approximately 1 in 6 people worldwide suffering from infertility during their reproductive lifespans [1]. It is defined as the failure to achieve ..
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters
A recent article published by our colleagues in Thieme Neuropediatrics reports that large panels have a significantly higher diagnostic yield in pediatric patients with epilepsy forms without encepha..
