Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
Gilbert Syndrome is a common, harmless genetic condition in which a liver enzyme essential to the disposal of bilirubin (the chemical that results from
the normal breakdown of hemoglobin from red blood cells) is abnormal. The
condition has also been referred to as constitutional hepatic dysfunction and
familial nonhemolytic jaundice. The enzyme abnormality in Gilbert syndrome
results in mild elevations of bilirubin in the blood, particularly after
starvation or dehydration.
What causes Gilbert syndrome?
Gilbert syndrome is the result of a genetic mutation in the promoter region
of a gene for the enzyme UGT1A (one of the enzymes called UGT
glucuronosyltransferases that are important for bilirubin metabolism). The gene
is located on chromosome 2. Other types of mutations in the same gene cause the
Crigler-Najjar syndrome, which is a more severe and dangerous form of
hyperbilirubinemia (high bilirubin in the blood).
People with two copies of the abnormal promoter region for the UGT1A gene
(one inherited from each parent) have Gilbert's syndrome and elevated bilirubin
levels, suggesting an autosomal recessive mode of inheritance. This means that
both parents require the gene for expression of the abnormality in the
offspring.
Gilbert syndrome is a frequent finding in people in the United States and
Europe. The condition is usually detected serendipitously (purely by accident)
in the course of routine blood screening.
Jaundice is a yellowish staining of the skin and whites of the eyes (sclerae) with bilirubin, the pigment found in bile. Jaundice can be an indicator of liver or gallbladder disease, or it may result from the rupture of red blood cells (hemolysis).
The time when boys and girls begin the process of sexual maturation is called puberty. During this time, both sexes undergo a series of biological changes that include a rapid increase in height, bone growth, weight increase, the growth of pubic hair, breast development and the onset of menstruation in girls, and testicle, penis, and muscle enlargement in boys.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Digestion is the complex process of turning food you eat into the energy you need to survive. The digestive process also involves creating waste to be eliminated, and is made of a series of muscles that coordinate the movement of food.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
What are genetic professionals and what do they do?
Genetics professionals are health care professionals with specialized degrees
and experience in medical genetics and counseling. Genetics professionals
include geneticists, genetic counselors and genetics nurses.
What is genetic counseling and evaluation?
Genetic professionals work as members of health care teams providing
information and support to individuals or families who have genetic disorders or
may be at risk for inherited conditions. Genetic professionals:
Assess the risk of a genetic disorder by researching a family's history and
evaluating medical records.
Weigh the medical, social and ethical decisions surrounding genetic
testing.
Provide support and information to help a person make a decision about
testing.
Interpret the results of genetic tests and medical data.
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