Genetic disorder

Genetic disorders encompass a wide range of conditions that are often inherited and affect various aspects of health. Here are some insights from trusted experts on different genetic disorders:

1. Cystic Fibrosis:

   • Bradley Dryburgh explains that cystic fibrosis is a genetic illness that affects the lungs and digestive system due to a defective gene that impacts salt and water transport in cells. This results in thick and sticky mucus that impairs organ function, leading to complications like lung infections and pancreatic insufficiency 1 2.

2. Huntington's Disease:

   • Erin Updyke describes Huntington’s as a neurodegenerative genetic disorder inherited in an autosomal dominant fashion. It affects the brain and nervous system, requiring only one mutated gene copy for disease manifestation, unlike autosomal recessive disorders like cystic fibrosis and sickle cell anemia 3.

     Understanding Cystic Fibrosis

     Bradley Dryburgh

     Cystic fibrosis is a genetic condition affecting around 3,600 Australians, characterized by severe lung and digestive issues due to a defective gene. The thick mucus produced leads to frequent lung infections and reduced respiratory function, making everyday breathing a challenge. Additionally, complications such as pancreatic insufficiency and liver disease can arise, highlighting the complexity and severity of living with cystic fibrosis.

     

     The Psychology of your 20s

     94. Chronic illness and overcoming adversity ft. Bradley Dryburgh

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3. Prevalence and Genetic Influence of Disorders:

   • Dr. Dimitrios Tsatiris discusses major depressive disorder's genetic heritability. Adoption and twin studies show its heritability is between 40-50%, suggesting it is influenced significantly by both genetic and environmental factors. This contrasts with conditions like Huntington's, where a specific gene mutation leads to the disorder 4.
   • Chris Palmer highlights that while mental disorders like schizophrenia and bipolar disorder run in families, specific genes for these conditions haven’t been identified. Instead, many risk genes provide minimal risk increments, illustrating the complexity beyond simple genetic causation 5.

4. Impact of Lifestyle on Genetic Predisposition:

   • Dean and Ayesha Sherzai stress the role of lifestyle choices in managing genetic risks. For instance, even individuals with a strong genetic predisposition to Alzheimer's, such as those with the ApoE4 gene, can influence disease onset through factors like diet and managing cardiovascular health 6.

5. Genetic Influence Versus Environmental Factors:

   • Kara Fitzgerald explains that genetic expression is influenced more by environmental factors and lifestyle (epigenetics) than by genetic mutations alone. This means that although some genetic conditions present early and can be severe, interventions targeting environmental interactions can still have significant impacts 7.

These insights reveal the multifaceted nature of genetic disorders, highlighting the importance of genetics, lifestyle, and environmental factors in disease manifestation and management.