Genetic Diseases Research Paper

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This is a hereditary condition related to chromosomes in which the X chromosome is recessive. An example is fragile-X syndrome that causes mental retardation in boys. Color blindness is one of the symptoms experienced by victims. It can be diagnosed through gene expression analysis. There is no treatment known for this condition

Systemic Lupus Erythematosis/SLE:

This is a genetic disease triggered by environmental factors and is related to vascular stiffening and premature atherosclerosis. It alters structure of left-ventricular (LV) by increasing its mass. It causes miscarriage and fetal death in the uterus. Genetic Diseases Research Paper Signs include photosensitivity, butterfly rash on the face, joint pains, vaginal ulcers, lesions-on-the-skin, tiny tears around the eyes in delicate-tissue and cognitive ability is temporarily lost. SLE is diagnosed through serologic testing which entails anti-extractable nuclear-antigen and antinuclear antibody testing as well as complete blood-discount. There is currently no SLE cure but it can be treated using immunosuppression in combination with cyclophosphamide or corticosteroids.

Down’s syndrome

This is a chromosomal disorder resulting from an error during cell division leading to one extra chromosome on the 21st chromosome thus causing mental retardation. Symptoms include a tongue that is protruding, anus with a flat bridge, cognitive-development-profile which is mild – moderate. Moreover, children delay in speaking, slow in learning to turn over, stand or walk. The condition can be diagnosed through a series of tests which include; sampling of chronic villus, Amniocentesis and sampling of percutaneous-umbilical-blood. It can also be done by tissue and blood samples which are stained to show chromosomes grouped by shape, size and number. Many symptoms of Down syndrome can be treated though a child born with this condition cannot be cured (Gardner and Sutherland, 2004).

Gastrointestinal Ulcers

This is a condition that results from heartburn due to damage of the muscle separating stomach from the esophagus thereby inducing numerous functional and metabolic changes that may lead to mucosal damage causing acute gastrointestinal-bleeding. Helicobacter pylori bacteria, stress and drug like aspirin are the environmental factors causing this disease. Symptoms include abdominal pain and blotting. Diagnoses involve tests like barium contrast or endoscopies x-rays. It is treated with H2 antagonists or antacids Genetic Diseases Research Paper

Fibrocystic Breast Disease

This is a non cancerous condition consisting of round lumps which freely move within breast-tissue and usually shrink and expands at and after menstrual-cycle. Most common symptoms are intermittent or persistent discomfort or breast pain at beginning of menstruation. It is related to hormonal variation (estrogen and progesterone) during a human’s monthly cycle that is mainly congenital factor. It is diagnosed by feeling (palpation) and physically touching lumpy areas inside the breasts. The disease can be managed by regular breast examination and imaging.

Prostate Carcinoma

It is characterized by development of cancer in prostrate and may cause pain or sexual intercourse problems. Presence of a lump on the prostate gland surface is the best symptom known. Its cause is unknown though some of the predisposing factors include heredity, environmental factors as chemicals, industrial products and toxins and advancing age. Physical examination, blood tests and imaging studies are the ways of diagnosing this disease. It can be treated through radiation or surgery (Debes and Tindall, 2002).

Urinary Stones (Urolithiasis)

This is a disorder characterized by abrupt expulsion of stones causing irritation, burning sensation during urination and urinary hesitation. Symptoms include calcification formation inside the bladder and it is related to environmental factors mainly urinary retention in the bladder.Genetic Diseases Research Paper It can be diagnosed through urinalysis and cystoscopy to confirm if stones are present in the bladder. Treatment involves open cystostomy and percutaneous lithotomy surgeries or extracorporeal shockwave lithotripsy to remove large stones.

Acute Glomerulo-Nephritis

This is a disease of the renal affecting both kidneys and is characterized by small blood-vessels or glomeruli in kidneys. It results into protein or blood in the urine, chronic or acute renal failure. It is related to genetic factors like systemic disorders namely vasculitis and SLE  or diabetes and can also be caused by environmental factors associated with drugs, parasitic pathogens, viral or bacterial infections. Diagnosis involves detecting the presence of antistreptolysin O titers in blood. Treatment involves steroid therapy.


These are crystalline concretions formed by accumulation of bile-components within gallbladder. This causes acute cholecystitis due to bile retention in gallbladder. Symptoms are severe abdominal pain on the upper right side, vomiting and nausea for over 30 at night after a fatty meal. It is caused by hereditary factors like body chemistry and gallbladder motility and environmental factors like diet. Gallstone is diagnosed by abdominal ultrasound which shows shadows of stones in gallbladder. Treatment involves use of oral ursodeoxycholic-acid to dissolve the stones and cholecystectomy surgery.Genetic Diseases Research Paper

Cirrhosis of the Liver

This disorder is characterized by diffused nodule formation and fibrosis on the tubular gland leading to jaundice. It is related to environmental factors such as chemicals (alcohol), toxic metals (iron and copper) and viruses and inherited disorders like autoimmune-liver disease. The major symptom is skin turning yellow. It is diagnosed through liver biopsy. Prevention of further liver damage, treating cirrhosis complication and liver transplantation are the best ways of treating this disease (Selikowitz, 1990).


Early diagnosis, treatment and intervention may assist babies with genetic disorders to achieve their full potential. Several children suffering from genetic disorders progress on well in life to hold jobs and live into middle age or beyond independently.Genetic Diseases Research Paper

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