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2nd Annual Medical Genetics Awareness Week

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Medical Genetics Awareness Week is celebrated to recognize the invaluable contributions that medical genetics healthcare professionals make in the diagnosis, management and prevention of genetic diseases, and the difference these professionals make in the lives of patients and families. The theme of Medical Genetics Awareness Week is “Celebrating the Contributions of the Entire Medical Genetics Team to Patient Care and Public Health.” The goal is to help inspire others to learn more about and take part in the medical genetics field.

Kidney Disease

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Kidney Disease
Kidney disease is the ninth leading cause of death in the United States. March was declared National Kidney Month to increase awareness of kidney disease and related risk factors.

Genetic testing for renal diseases, like polycystic kidney disease (PKD), nephrolithiasis and nephrocalcinosis, congenital abnormalities of kidney and urinary tract (CAKUT), and nephrotic syndrome, is important for patients with a family history of kidney disease, even if they do not have symptoms. A genetic diagnosis can impact care and affect medical decisions for patients and their families.

Bleeding Disorders

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Bleeding Disorders
Bleeding disorders include a number of diseases that prevent proper blood clotting. Causes include abnormal platelet count, volume, morphology, function, and impaired coagulation. Proper clotting is critical for healing. If left untreated, uncontrolled bleeding due to a bleeding disorder can cause painful long-term effects like severe joint damage or viral infections. Obtaining a diagnosis allows for some bleeding disorders to be treated with the use of clotting factor concentrates or topical products applied in a hospital setting.

Genetic Testing for Inherited Bone Marrow Failure

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Bone Marrow Failure
Bone marrow failure occurs when blood cells, including red cells, white cells and platelets are not produced in a sufficient quantity or the cells that are produced are defective or damaged. The overall decrease in mature blood cells is called cytopenia, and bone marrow failure can be associated with single (e.g. thrombocytopenia) or multiple lineage (e.g. thrombocytopenia, neutropenia, anemia) cytopenias. In addition to cytopenias, bone marrow failure is also associated with an increased risk for hematologic malignancies such as myelodysplastic syndrome and acute myeloid leukemia.

Hereditary Heart Disease

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In 1964, President Lyndon B. Johnson proclaimed February American Heart Month as a way to increase awareness of heart diseases. Heart disease, also known as cardiovascular disease, is a broad term that describes a phenotypically and genetically heterogeneous group of diseases that impair the function or structure of the heart or both. Heart disease is the leading cause of death worldwide, accounting for 31% of all deaths (Cardiovascular Diseases). Environmental and behavioral factors are important aspects in the development of cardiovascular disease, but heredity plays a role as well.