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Hereditary diseases

Hereditary diseases

Carrier screening: A comprehensive guide to genetic health and reproductive planning

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited disorders. While carriers typically do not show sympto..

LATEST ARTICLES

Trisomy awareness month: Understanding trisomy 13

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The condition arises when errors occur during cell divis..

Hereditary diseases

Genetic Testing: A powerful tool in the fight against cardiovascular diseases

Introduction Cardiovascular disease (CVD) is a major health issue as it remains a leading cause of death worldwide [1]. CVD is responsible for more than one-third of global deaths annually. In 201..

Hereditary diseases

The future of family planning: Genetic testing and reproductive health

Reproductive health is a fundamental aspect of human well-being, affecting individuals and communities worldwide [1]. It encompasses a wide range of issues, from understanding one's body and fertilit..

Hereditary diseases

Understanding orphan drugs: Definitions, examples, and legislative support for the treatment of rare diseases

Orphan drugs are those developed specifically for the treatment of rare diseases. Within the pharmaceutical industry, the drug development process is long and expensive, and success in terms of a mar..

Hereditary diseases

Beyond the pink ribbon: A comprehensive look at breast cancer

Breast cancer is a type of cancer that originates in the breast cells. Genetic changes in the DNA of the healthy breast cells can lead to the formation of cancer cells which grow uncontrollably and f..

Hereditary diseases

Hereditary disease: cardiovascular disorders

Cardiovascular diseases affect the heart and blood vessels and are a leading cause of illness and death. Some are hereditary, and genetic testing can help with diagnosis and determining the right tre..

Hereditary diseases

New ASCO guidelines for germline genetic testing in patients with cancer

In May 2024, the American Society of Clinical Oncology (ASCO) published new guidelines for germline genetic testing in patients with cancer (1). Introduction to hereditary cancer and germline ..

Hereditary diseases

Beyond IVF: Unveiling the Power of Preimplantation Genetic Testing

Infertility is a struggle for many individuals nowadays. According to the World Health Organization (WHO), 1 in 6 people experience infertility, showing the increasing need for the use of alternative..

Hereditary diseases

Butterfly skin explained: understanding epidermolysis bullosa

Epidermolysis bullosa (EB), sometimes called butterfly skin, is a group of rare skin diseases with a common symptom: fragile skin that tears and blisters easily. Children with this disease are someti..

Hereditary diseases

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