Marfan Syndrome

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Marfan syndrome is a genetic disorder that affects connective tissue, causing abnormal growth and development. It is inherited in an autosomal dominant pattern due to a mutation in the FBN1 gene on chromosome 15. If one parent has Marfan syndrome, a child has a 50% chance of inheriting the condition. While there is no cure, treatment options can help manage symptoms and prevent complications.

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Clinical genetics is one of the most rapidly advancing fields in medicine. Spectacular progress has been achieved in this century with unravelling of the entire draft sequence of the human genome. A major contribution of these advances has been in diagnosis, management and prenatal diagnosis of genetic disorders as treatment in most cases is difficult or impossible and where available beyond the means of most families. Genetic technology is advancing rapidly, bringing new, safer and more sensitive ways to diagnose genetic conditions pre- and postnatally. These advances will bring about profound changes in the way we deliver obstetric services to women and their families. Diagnosing a genetic disorder not only allows for disease-specific management options but also has implications for the affected individual's entire family. Hence, a working understanding of the underlying concepts of genetic disease is important for all practicing clinicians. Although it is impossible to know all aspects of clinical and molecular genetics, basic knowledge of certain topics is a must for all practicing obstetrician/gynecologists.

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This ppt is prepared by Sandeep Kumar Maurya , m. pharma ,department of pharmaceutical sciences, dr. harisingh gour university sagar madhya pradesh. This SlideShare covers some of genetic disorders , molecular pathology, single gene disorder type of single gene disorder and advanced level cancer , mechanism of cancer, model for cancer induction explanation. 1. Introduction of genetic disorder 2. Common genetic disorders 3. Causes of genetic disorders 4. Symptoms of genetic disorders 5. single gene disorder 6. Cancer. 8. References. Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique. You receive half your genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change due to issues within the DNA (mutations). This can raise your risk of having a genetic disorder. Some cause symptoms at birth, while others develop over time.` Introduction of Cancer Cancer is caused by the failure of genetic mechanisms that control the growth and proliferation of cells. In most cases, cumulative damage to multiple genes (the "multi-hit" model) via physical and chemical agents, replication errors, etc. contribute to oncogenesis. However, a person's inherited genetic background also may strongly contribute. In cancer, a single transformed cell grows to become a primary tumor, accumulates more mutations and becomes more aggressive, then metastasizes to another tissue and forms a secondary tumor. The difference between a benign tumor and a malignant one mostly involves the latter's ability to invade and metastasize to other tissues. Tumors are classified according to the embryonic origin of the tissue from which they originate. The term carcinoma is used to denote cancers of endodermal (e.g., gut epithelia cancers) or ectodermal (e.g., skin, neural epithelia) origin. Cancers of mesodermal origin (e.g., muscle, blood cells) are called sarcomas. Carcinomas make up >90% of malignant tumors.

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