Genetic Disorders and Birth Defects

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• QHow does a cell know which genes to turn on?

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  A Dr. Michael Roizen, MD , Internal Medicine, answered

  

  Every cell—and there are around 200 different types in the body—needs to know which few genes are relevant for it and of those genes, whether mom's or dad's is going to be expressed. The genes alone are useless, unless there's a way to find what you need, when you need it.
  
  Your body puts biological Post-It notes (called epigenetic tags) on certain genes to determine which genetic recipes get used. This tagging happens through a couple of chemical processes such as methylation and acetylation, but guess what? Actions you take during your pregnancy can influence these processes and determine where the Post-It notes go and which genes will be expressed, ultimately affecting the health of your child.

  

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• QWhat is the effect of genes on body shape and size?

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  A Boston Women's Health Book Collective , Administration, answered

  

  Human beings naturally vary in body shape and size. Some of us have large frames, while others of us have small frames. If most of the women in our family are heavy, we may have a genetic predisposition to be larger. The foods that our ancestors ate may offer some interesting clues to an appropriate diet for our personal health. Ancestry is a factor in the high incidence of certain diet-related chronic illnesses, such as diabetes and alcoholism, among Native Americans in the U.S. Poverty has forced many Native American families to eat diets high in nontraditional, unhealthy foods, such as white flour and sugar. Research has shown that biological factors play a role in alcoholism and diabetes rates: Since fermented foods were not a part of the traditional diet, many Native Americans typically lack the enzyme to process alcohol and other sugars.

  

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• QHow does cystic fibrosis affect my body?

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  A Univ. of Nev. School of Medicine, Family Medicine answered

  The genetic mutation that results in cystic fibrosis results in extremely thick secretions in the respiratory tract, digestive system and sweat glands. This eventually leads to lung infections, difficulties with digestion and nutrition, among other complications. The abnormal sweat gland secretions may be used to diagnose this disease.
• QWhat are complications of cystic fibrosis (CF)?

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  A Univ. of Nev. School of Medicine, Family Medicine answered

  The sticky mucus associated with cystic fibrosis (CF) can cause many complications. The most common areas are in the respiratory, digestive and reproductive systems. Cystic fibrosis is one of the leading causes of bronchiectasis, a condition that damages the airways (making it harder to move air in and out of the lungs). It can also cause chronic lung infections as well as a pneumothorax (a condition in which air collects in the space that separates the lungs from the chest wall). Nutritional deficiencies may be associated with cystic fibrosis; it also increases the risk of diabetes. Children with cystic fibrosis are also at higher risk of intussusception, a condition in which a section of the intestines folds in on itself like an accordion and which can be very serious.
• QHow is cystic fibrosis in children treated?

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  A Univ. of Nev. School of Medicine, Family Medicine answered

  Treatment of cystic fibrosis in children is much like treatment for adults with the condition, but possibly with additional concerns regarding poor growth and development due to malnutrition. If a child with cystic fibrosis is having difficulty gaining weight, or is found to have vitamin deficiencies, this can be treated with nutritional support.

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• QWhat are the primary features of cystic fibrosis in children?

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  A Dr. Lyall A. Gorenstein, MD , Thoracic Surgery (Cardiothoracic Vascular), answered on behalf of Columbia University Department of Surgery

  Children with cystic fibrosis typically experience repeated pulmonary infections. Since cystic fibrosis affects the glands that secrete sweat, they may also suffer from salt depletion while sweating during hot weather. Fever, cough, difficulty in breathing, fast respiration, flaring of the nostrils, poor appetite, and reduced activity are typical features of acute cystic fibrosis.
• QWhat is a lung transplant like for someone with cystic fibrosis?

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  A Dr. Mehmet Oz, MD , Cardiology (Cardiovascular Disease), answered

  

  People with cystic fibrosis sometimes end up needing a lung transplant. In this video, Dr. Oz interviews a patient who needed a new set of lungs and the surgeon who performed her life-changing transplant surgery.
• QWhat is cystic fibrosis?

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  A Johns Hopkins Medicine answered

  Cystic fibrosis is the most common lung disease that requires transplantation in children. It is a genetic disease caused by a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Children with cystic fibrosis have thick, sticky mucus in their lungs that block small airways and causes chronic infections. Most children with cystic fibrosis also have abnormalities in their pancreas leading to poor absorbing of fats and vitamins.
  
  

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• QDo we inherit our ability to be happy?

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  A Discovery Health answered

  To a degree. Studies of fraternal and identical twins indicate that half of our ability to be happy is determined by genetic traits, such as an easygoing nature. The other half is determined by our careers, lifestyles and other external matters.

• QWhat role does family history play in disease?

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  A Carrie Bilicki , Oncology Nursing, answered on behalf of Aurora Health Care

  Traditionally, genetics has been a field of rare diseases causes by single gene mutations that affect few individuals. Since the completion of the human genome project, medicine has begun to rapidly gain knowledge into how our genes contribute to complex common diseases such as heart disease, strokes, neurological disease and cancer.  With increased understanding of the genetic basis of common and chronic health problems affecting both children and adults, this allows a physician to improve their ability to diagnose, manage, treat and possibly prevent many disorders.