Conferencia - Dr. Santiago Ignacio Godínez Hernández "Genética en la medicina actual"

UNIVIM Universidad Virtual del Estado de Michoacán


Summary

In the video, Dr. Santiago Ignacio González Gordz Hernández, a medical geneticist, explains that genetics is the study of how traits are inherited through DNA. Geneticists work to identify and manage genetic disorders that can impact health from birth. Genetic testing, counseling, and personalized treatment plans are crucial in diagnosing and addressing genetic conditions like Down syndrome and metabolic disorders. The importance of early detection and understanding inheritance patterns, such as autosomal dominant and recessive, is emphasized for providing families with answers and empowering decision-making for future health implications, including prenatal and preimplantation genetic diagnosis options. Genetic testing contributes to proactive health measures and preventive actions, such as cancer surgeries in high-risk individuals based on hereditary risks.


Introducing Dr. Santiago Ignacio González Gordz Hernández

Dr. Santiago Ignacio González Gordz Hernández is a distinguished medical geneticist who graduated as a surgeon in 2017 and specializes in medical genetics. He is committed to health, research, and innovation in medical treatments.

Understanding Genetics

Genetics is the scientific study of how traits are passed from parents to offspring through DNA, containing instructions for the development of organisms. Medical geneticists work with patients to identify genetic implications for health conditions present since birth.

Genetic Material and Chromosomes

Genetic material is stored in chromosomes within cells, with humans having 23 pairs of chromosomes. Genes in DNA provide instructions for various traits, and abnormalities in genes can lead to genetic disorders.

Inheritance Patterns

Genetic disorders can be dominant or recessive, affecting individuals based on the presence of faulty genes. Various inheritance patterns, such as autosomal dominant and recessive, determine the likelihood of developing genetic conditions.

Genetic Testing and Counseling

Genetic testing helps identify genetic variations and risk factors for inherited conditions. Genetic counselors provide guidance and support to individuals and families, especially in cases of prenatal testing and hereditary diseases.

Common Genetic Disorders

Medical geneticists diagnose and manage genetic conditions like Down syndrome, metabolic disorders, and neurological abnormalities. Early detection and personalized treatment plans are crucial for patients with genetic disorders.

Genetic Diagnostic Studies

Different types of genetic diagnostic studies such as cytogenetics and molecular cytogenetics (Fish and microarrays) play a crucial role in identifying genetic abnormalities, such as missing or additional chromosome parts.

Importance of Genetic Diagnosis

Genetic diagnosis provides answers to families regarding the underlying cause of a patient's condition, alleviating feelings of guilt and enabling prognosis and family planning for future health implications.

Genetic Testing Options

Genetic testing options include preimplantation genetic diagnosis (PGD) and prenatal diagnosis to allow informed decisions about continuing pregnancies, addressing genetic risks, and empowering individuals with genetic conditions.

Genetic Counseling and Education

Genetic counseling involves educating patients and families about genetic diseases, transmission risks, and available management options, fostering communication, support, and informed decision-making.

Clinical Implications and Examples

Clinical implications of genetic testing include preventive actions like surgeries for cancer prevention in high-risk individuals. Examples illustrate the significance of genetic testing in identifying hereditary cancer risks and guiding proactive health measures.


FAQ

Q: What is genetics?

A: Genetics is the scientific study of how traits are passed from parents to offspring through DNA, containing instructions for the development of organisms.

Q: How many pairs of chromosomes do humans have?

A: Humans have 23 pairs of chromosomes.

Q: What role do genes play in DNA?

A: Genes in DNA provide instructions for various traits, and abnormalities in genes can lead to genetic disorders.

Q: What are genetic disorders?

A: Genetic disorders can be dominant or recessive, affecting individuals based on the presence of faulty genes.

Q: What is the importance of early detection in genetic disorders?

A: Early detection and personalized treatment plans are crucial for patients with genetic disorders.

Q: What do genetic counselors do?

A: Genetic counselors provide guidance and support to individuals and families, especially in cases of prenatal testing and hereditary diseases.

Q: How do different types of genetic diagnostic studies help in identifying genetic abnormalities?

A: Different types of genetic diagnostic studies such as cytogenetics and molecular cytogenetics (Fish and microarrays) play a crucial role in identifying genetic abnormalities, such as missing or additional chromosome parts.

Q: What is the purpose of genetic testing?

A: Genetic testing helps identify genetic variations and risk factors for inherited conditions.

Q: What are some genetic testing options available?

A: Genetic testing options include preimplantation genetic diagnosis (PGD) and prenatal diagnosis to allow informed decisions about continuing pregnancies, addressing genetic risks, and empowering individuals with genetic conditions.

Q: What is the role of genetic counseling in patient care?

A: Genetic counseling involves educating patients and families about genetic diseases, transmission risks, and available management options, fostering communication, support, and informed decision-making.

Q: How does genetic testing impact clinical decisions?

A: Clinical implications of genetic testing include preventive actions like surgeries for cancer prevention in high-risk individuals.

Q: Can genetic testing help in identifying hereditary cancer risks?

A: Examples illustrate the significance of genetic testing in identifying hereditary cancer risks and guiding proactive health measures.

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