Genetic Counseling Center - Bristol, CTBristol Geneticist, Ph.D. Doctors for Genetic CounselingType of Physician: Geneticist, Ph.D. What is a Geneticist, Ph.D.? A certification by the Board of Medical Genetics; practitioners work in association with a medical specialist, are affiliated with a clinical genetics program, or serve as a consultant to medical and dental specialists. Specialty: Genetics: Medical (Ph.D.) Common Name: Bristol, ConnecticutUpcoming Local Events2012-06-17
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Genetic CounselingRead the Genetic Counseling article » 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:
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How do I find a genetic professional?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. As more has been learned about genetics, genetic professionals have grown more specialized. For example, they may specialize in a particular disease (such as cancer genetics), an age group (such as adolescents) or a type of counseling (such as prenatal). How do I decide whether I need to see a geneticist or other speci...Recommended Reading Related to Genetic CounselingPorphyria facts
What is porphyria?Porphyria is a term that refers to a group of disorders -- the porphyrias -- that affect the nervous system or skin, or both. Each type of porphyria is due to the deficiency of one of the enzymes needed to make a substance in the body called heme. Enzymes are proteins ... Other Related Genetic Counseling ArticlesEmergency Contact for Bristol
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Related Diseases & Conditions
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Colon Cancer
- Colon cancer is a malignancy that arises from the inner lining of the colon. Most, if not all, of these cancers develop from colonic polyps. Removal of these precancerous polyps can prevent colon cancer.
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Miscarriage
- A miscarriage is any pregnancy that ends spontaneously before the fetus can survive. Miscarriage usually occurs before the 13th week of pregnancy. The cause of a miscarriage cannot always be determined. The most common causes of a miscarriage in the first trimester are collagen vascular disease (lupus), hormonal problems, diabetes, chromosomal abnormalities, and congenital abnormalities of the uterus.
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Down Syndrome
- Down syndrome is a chromosomal disorder that results in the presence of an additional third chromosome 21, also referred to as trisomy 21. Most individuals with Down syndrome have widely recognizable physical characteristics. The severity of Down syndrome ranges from mild to severe. Diagnostic testing for Down syndrome include amniocentesis, chorionic villus sampling, and percutaneous umbilical cord sampling. The most common risk factor for Down syndrome is a woman's age.
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Huntington's Disease
- Huntington's disease is the result of degeneration of neurons in areas of the brain. Huntington's disease is an inherited disorder. Early symptoms include mood swings, apathy, depression, and anger uncharacteristic of the individual. Judgement, memory, and other cognitive functions may become impaired. Presymptomatic testing is available for individuals who have a family history of Huntington's disease. Treatment includes medication and therapy for symptoms.
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Marfan Syndrome
- Marfan syndrome is hereditary condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics: dislocation of one or both lenses of the eye; a protruding or indented breastbone; scoliosis; flat feet; aortic dilatation; dural ectasia; stretch marks; hernia; and lung collapse. Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications.
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Sickle Cell Disease (Sickle Cell Anemia)
- Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is cause by an inherited abnormal hemoglobin. Symptoms may include bacterial infections, painful swelling of the hands and feet, fever, leg ulcers, fatigue, anemia, eye damage, and lung and heart injury. Treatment for sickle cell anemia aims to manage and prevent the worst manifestations of the disease and focuses on therapies that block red blood cells from stacking together, which can lead to tissue and organ damage and pain.
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Pheochromocytoma
- Pheochromocytoma is a tumor of the adrenal gland. Pheochromocytomas are quite rare and the vast majority of them are entirely benign. Only very rarely is a pheochromocytoma malignant.
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Wolff-Parkinson-White Syndrome
- Wolff-Parkinson-White syndrome is a condition in which abnormal electrical pathways in the heart cause arrhythmias. Symptoms of Wolff-Parkinson-White syndrome include tachycardia, dizziness, palpitations, fainting, and shortness of breath. Wolff-Parkinson-White syndrome is a common cause of paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome is caused by mutations in the PRKAG2 gene.
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Fragile X Syndrome
- Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People with Fragile X syndrome suffer from physical, social, emotional, speech, language, sensory, intelligence, and learning impairments. There is no definitive treatment for Fragile X, though there are ways to minimize the symptoms.
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Ehlers-Danlos Syndrome
- Ehlers-Danlos syndromes are genetic disorders that include symptoms such as loose joints, tissue weakness, easy bruising, and skin that stretches easily. There are seven types of Ehlers-Danlos syndromes: Classical type, Hypermobility type, Vascular type, Kyphoscoliosis type, Arthrochalsia type, Dermatosparaxis type, and Tenascin-X Deficient type. Treatment for Ehlers-Danlos syndromes depends on which symptoms are present.
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Beta Thalassemia
- Beta Thalassemia is the most familiar type of thalassemia. Thalassemia is not just one disease but rather a complex series of genetic (inherited) disorders all of which involve underproduction of hemoglobin.
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Phenylketonuria
- Phenylketonuria (PKU) is a disorder that is inherited. PKU disorder increases the levels of phenylalanine in the blood. Phenylalanine is an amino acid that is obtained through diet, and is found in some artificial sweeteners. Signs and symptoms of PKU may vary from mild to severe. PKU has an autosomal ressesive pattern of inheritance.
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Amyotrophic Lateral Sclerosis (ALS)
- Amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease) is a neurological disease that progresses rapidly. The disease attacks the nerve cells responsible for the control of voluntary muscles. Early symptoms include cramping, twitching, or stiffness of the muscles; slurred nasal speech; difficulty swallowing or chewing, and muscle weakness in an arm or leg. Currently, the cause of ALS is not known. ALS is a fatal disease. No cure has been found for ALS, however, the drug riluzole (Rilutek) is FDA approved, and this drug reduces the damage to motor neurons by decreasing the release of glutamate.
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Birth Defects
- Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
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Genetic Disease
- 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).
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Ramsay Hunt Syndrome
- Ramsay Hunt syndrome is an infection of a facial nerve that causes a red painful rash with blisters and facial paralysis. The herpes zoster virus causes the infection. The infection is treated with antiviral agents, steroids, and pain medications.
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Achondroplasia
- A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications of achondroplasia that need monitoring include (this is not all inclusive) stenosis and compression of the spinal cord, a large opening under the skull, lordosis, kyphosis, spinal stenosis, hydrocephalus, middle ear infections, obesity, and dental crowning. Achondroplasia is caused by mutations of the FGFR3 gene.
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Angelman Syndrome
- Angelman syndrome is a genetic disorder that results from the absence of a functional copy of the UBE3A gene inherited from the mother. Infants with Angelman syndrome often have feeding problems and exhibit noticeable developmental delays by six to 12 months of age. Other symptoms include seizures, hyperactivity, speech impairment, small head size, sleep disorders, and movement and balance disorders. There is no specific treatment or therapy for Angelman syndrome.
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Gilbert Syndrome
- Gilbert syndrome is a benign genetic condition that causes abnormal breakdown of bilirubin, a compound that is formed when hemoglobin from red blood cells degrades. Elevated bilirubin can cause, jaundice, which is yellowing of the eyes. Gilbert syndrome does not need to be treated and has a good prognosis.
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Alpha Thalassemia
- Alpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the code for the alpha chains of hemoglobin. When one gene is impaired, that person is in a carrier state and suffers no medical problems. When four genes are impaired, the production of fetal and adult hemoglobin is prevented, resulting in hydrops fetalis and leading to death before birth.
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Prader-Willi Syndrome
- Prader-Willi syndrome is a condition characterized by severe floppiness (hypotonia), poor growth, delayed development, and poor feeding problems in early infancy later followed in infancy by excessive eating that may lead to extreme obesity. The genitals in both females and males are underdeveloped and most are infertile. Prader-Willi syndrome is related to chromosome 15.
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Alpha-1 Antitrypsin Deficiency
- Alpha-1 antitrypsin deficiency is an inherited disorder that may cause liver and lung disease in adults. Signs and symptoms include shortness of breath, wheezing, weight loss, respiratory infections, fatigue, vision abnormalities. Advanced lung disease from alpha-1 antitrypsin deficiency include emphysema. Liver damage from alpha-1 antitrypsin deficiency causes a swollen abdomen, swollen legs or feet, and jaundice.
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Pick Disease
- Frontotemporal dementia (FTD) is a syndrome that is associated with shrinking of the frontal and temporal lobes of the brain. Frontotemporal dementia used to be referred to as Pick's disease. Frontotemporal dementia has a strong genetic component. Symptoms of frontotemporal dementia include changes in behavior or problems with language. There is no treatment that slows the progression of frontotemporal dementia. Medication may be prescribed to improve symptoms. The outcome for patient's with frontotemporal dementia is poor.
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Pregnancy Planning
- Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
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MELAS Syndrome
- MELAS syndrome, a rare form of dementia, stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes. Mutations in the genetic material (DNA) in the mitochondria cause MELAS syndrome. Symptoms of MELAS include brain dysfunction (encephalopathy) with seizures and headaches, muscle disease with lactic acid build-up in the blood, temporary local paralysis, and abnormal thinking (dementia). There is no known treatment for MELAS.
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Gardner's Syndrome (Familial Adenomatous Polyposis)
- Gardners' syndrome, or familial adenomatous polyposis (FAP), is an inherited condition in which cancer of the colon and rectum develop. Colon polyps and growths may develop as early as the teens. If these polyps are not removed, they will become cancerous. There are different inheritance patterns for familial adenomatous polyposis.
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Fabry Disease
- Fabry disease (Fabry's disease, alpha-galactosidase-A) is a genetic disorder with symptoms such as burning sensations in the hands, small-raised reddish-purplish blemishes on the skin, fever, decreases sweating, and GI difficulties. Fabry disease patients are at increased risk of heart attack, heart disease, kidney failure, and stroke. Symptoms of Fabry disease can be treated with medication.
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Charcot-Marie-Tooth-Disease
- Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders. Charcot-Marie-Tooth disease affects the peripheral nerves. Symptoms include weakness of the lower leg muscles and foot, foot drop, foot deformities, etc. There are several forms of Charcot-Marie-Tooth disease. Inherited gene mutations are the cause of Charcot-Marie-Tooth disease. There is no cure for Charcot-Marie-Tooth disease; however, therapeutical measures and mild exercise may help symptoms.
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Usher Syndrome
- There are three types of Usher (Usher's) syndrome, the most common condition that affects both vision and hearing. The major symptoms of Usher syndrome include retinitis pigmentosa (night-blindness and a loss of peripheral vision), and hearing loss. Usher syndrome is a genetic condition. There is no cure for Usher syndrome.
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