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Clinical Genetics

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Medical Genetics

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Welcome to the World of Medical Genetics

Explore the intricate world of Medical Genetic, which delves into the fascinating field of inherited disorders. Whether you're a patient, a concerned individual, or just someone who is enthralled by the marvels of genetics, we have you covered.

Which diseases are genetically based and inherited?

Genetic disorders are illnesses caused by errors in a person's DNA. These anomalies may arise spontaneously as a result of alterations in the DNA sequence or they may be passed down from one or both parents. Genetic disorders can affect a person's appearance, how their organs function, how their metabolism works, and even how susceptible they are to certain diseases. These disorders can also affect other areas of their health.

As the name implies, inherited disorders are genetic illnesses that parents' genes pass on to their offspring. These diseases can be inherited in different ways, such as X-linked (occurring on the X chromosome), autosomal dominant (only one copy of the abnormal gene is needed for the disorder to manifest), autosomal recessive (requiring two copies of the abnormal gene), and mitochondrial (affecting the energy-producing structures within cells).

Genetic disorders can have a variety of causes. Some diseases are caused by changes or mutations in a single gene, whereas others are the result of complex interactions between numerous genes and environmental factors. Environmental factors like exposure to toxins, radiation, or specific medications can have an impact on genetic disorders.

Every disorder has a different set of symptoms, an individual inheritance pattern, and a different method of treatment.

The accurate diagnosis of genetic disorders frequently necessitates a thorough assessment of a person's medical history, physical examination, and family history. In some cases, genetic testing may be suggested to confirm a suspected diagnosis or identify genetic mutations that could increase the risk of developing a particular disorder.

Recent significant advances in genetic testing have made it possible to identify specific gene mutations or chromosomal abnormalities linked to a variety of genetic disorders. These tests might be performed during pregnancy, as a child, or even as an adult, depending on the suspected disorder and the particular circumstance.

Medical genetics and a Clinical geneticist works with multiple specialists to accurately curate a Genetic test for an individual depending on the family and clinical history.

Once a genetic disorder is identified, the clinical geneticist counsels regarding the possible treatment plan, prognosis and recurrence risk for the particular disease.

The knowledge of inherited and genetic disorders is expanding quickly, opening up new perspectives on the complex processes that make up our genetic code. By understanding these conditions, we can foster compassion, support, and scientific development in the field of genetics.

Partners in care

Dr. Tanmay Ulhas Deshpande

Consultant - Medical Genetics & Counsellor
Dr. Tanmay Ulhas Deshpande
Medical Genetics
MD Physician, MD Pediatrics
Call us Call us on 022-61305000



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