FANCA gene
The FANCA gene is one of the core genes in the Fanconi anemia (FA) pathway, which is involved in the repair of DNA damage. Mutations in this gene are known to cause Fanconi anemia, a rare genetic disorder that is…
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TCOF1 gene
The TCOF1 gene, also known as treacle, is a gene associated with Treacher Collins syndrome (TCS), a genetic disorder that affects the development of facial bones and tissues. TCS is characterized by a variety of craniofacial abnormalities, including coloboma of…
Spondylothoracic dysostosis
Spondylothoracic dysostosis is a rare condition characterized by abnormalities of the spine (spondylocostal dysostosis) and ribs (spondylothoracic dysostosis). According to OMIM, there have been only a few reported cases of this condition in the scientific literature. Articles in PubMed, supported…
Essential thrombocythemia
Essential thrombocythemia (ET) is a rare clinical condition characterized by the presence of an excess of platelets in the blood. It is also known as primary thrombocythemia or essential thrombocytosis. The increased platelet count in ET is not secondary to…
Walker-Warburg syndrome
Walker-Warburg syndrome is a rare, inherited muscular condition that causes a range of anomalies in affected individuals. It is also referred to as “congenital muscular dystrophy with structural brain abnormalities” and “Fukuyama-type congenital muscular dystrophy”. The frequency of this syndrome…
TTR gene
The TTR gene, also known as transthyretin, is a scientific term used to describe a specific genetic variant that has been linked to various amyloid diseases. Amyloid diseases are a group of disorders characterized by the buildup of abnormal proteins…
Olopatadine Nasal Spray
Olopatadine Nasal Spray Olopatadine nasal spray is used to relieve sneezing and a stuffy, runny or itchy nose caused by allergic rhinitis (hay fever). Olopatadine is in a class of medications called antihistamines. It works by blocking the effects of…
TINF2 gene
The TINF2 gene is a genetic factor that plays a critical role in the biology of telomeres. Telomeres are the protective caps on the ends of chromosomes that help maintain the stability and integrity of the genome. Mutations in the…
ADHD Screening
ADHD, or attention deficit hyperactivity disorder, is a common neurodevelopmental disorder that affects both children and adults. Many individuals with ADHD have difficulty staying focused, paying attention, and controlling their impulses. In school or work settings, they may struggle to…
Chediak-Higashi syndrome
Chediak-Higashi syndrome is a rare genetic condition associated with abnormalities in the trafficking of cellular organelles. It is characterized by a variety of clinical features, such as partial albinism, recurrent infections, and neurological abnormalities. The syndrome is caused by mutations…