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Teaching Resources Genetic and Rare Diseases Information

Details: The Howard Hughes Medical Institute (HHMI) is dedicated to advancing science education. HHMI offers science education grant programs for undergraduate, graduate, and postdoctoral science education as well as educational materials for use in colleges and universities.

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Teachers and Students Genetic and Rare Diseases

Details: GARD can provide ideas, strategies, and support resources for teachers and parents to make the student's education more successful. If you are a student, you may want help finding information for a school project about a genetic or rare medical condition. Or you might be interested in working in the field of genetics or rare diseases and would

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Lymphatic Education and Research Network Genetic and

Details: COVID-19 is an emerging, rapidly evolving situation. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Get the latest research information from NIH: https://covid19.nih.gov (link is external)

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C&S Patient Education Foundation Genetic and Rare

Details: If you have problems viewing PDF files, download the latest version of Adobe Reader. For language access assistance, contact the NCATS Public Information Officer. Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

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Mycobacterium Avium Complex infections Genetic and Rare

Details: The AIDS Education and Training Center (AETC) offers information on Mycobacterium Avium Complex infections. Click on the link to view this information page. GARD Answers GARD Answers Listen. Questions sent to GARD may be posted here if the information could be helpful to others.

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Essential thrombocythemia Genetic and Rare Diseases

Details: NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases. The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare

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Fragile X syndrome Genetic and Rare Diseases Information

Details: The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

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Medium-chain acyl-coenzyme A dehydrogenase deficiency

Details: Education Resources The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

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Support for Patients and Families Genetic and Rare

Details: Other staff members may have a degree in a related field, such as social work, public health, education, communication, or medicine. Learn about the group's funding sources and how they spend donations. The activities of 501(c)3 groups are strictly regulated, which makes certain that the donations and grants are used properly. A similar status

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Mild phenylketonuria Genetic and Rare Diseases

Details: Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.

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Myelomeningocele Genetic and Rare Diseases Information

Details: Myelomeningocele is the most serious form of spina bifida. It happens when parts of the spinal cord and nerves pop out through the open part of the spine. This leads to spinal cord and spinal nerve damage and other disabilities. Symptoms of a myelomeningocele include a decreased ability to feel sensation below the opening in the spine.

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BRCA2 hereditary breast and ovarian cancer syndrome

Details: BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast

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Carbamoyl phosphate synthetase 1 deficiency Genetic and

Details: The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

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Syndrome of inappropriate antidiuretic hormone Genetic

Details: Syndrome of inappropriate antidiuretic hormone (SIADH) occurs when an excessive amount of antidiuretic hormone is released resulting in water retention and a low sodium level. It is most common among older people. It has many causes including, but not limited too, pain, stress, exercise, a low blood sugar level, certain disorders of the heart, thyroid gland, kidneys, or adrenal glands, and the

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CADASIL Genetic and Rare Diseases Information Center

Details: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the brain. CADASIL is characterized by migraine headaches and …

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CHARGE syndrome Genetic and Rare Diseases Information

Details: CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for c oloboma, h eart defect, a tresia c hoanae (also known as choanal atresia), r estricted growth and development, g enital abnormality, and e ar abnormality. Signs and symptoms vary among people with this condition; however, infants often have multiple life-threatening medical

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Granular cell tumor Genetic and Rare Diseases

Details: Granular cell tumors (GCTs) are soft tissue tumors that can occur anywhere in the body. They are thought to arise from the cells that surround and insulate the nerve cells in our body (Schwann cells).Most granular cell tumors are benign (non-cancerous), although some may be locally aggressive.

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Citrullinemia type II Genetic and Rare Diseases

Details: Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.

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Adult-onset Still's disease Genetic and Rare Diseases

Details: Adult-onset Still's disease (AOSD) is an inflammatory condition that affects multiple organs.The most common symptoms are high fevers, skin rash, arthritis, and high levels of ferritin, a protein that stores iron in the blood. Other symptoms include an enlarged spleen and lymph nodes, joint pain, and sore throat.In some cases, symptoms may be severe and lead to organ and joint damage.

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Trisomy 13 Genetic and Rare Diseases Information Center

Details: Counseling, Quantitative Methods, and Special Education Wham Building, Room 223 MC 4618 Carbondale, IL 62901 Phone: 618-453-2311 E-mail: [email protected]; Organizations Organizations Listen. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services.

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Superior mesenteric artery syndrome Genetic and Rare

Details: Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating.

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PEHO syndrome Genetic and Rare Diseases Information

Details: A significant number of patients have been described who displayed most of the diagnostic criteria and features of PEHO syndrome, but did not appear to have cerebral atrophy on MRI, lacked the ophthalmologic signs and showed no reduction in CSF IGF-1 levels. This group of patients was diagnosed with PEHO-like syndrome.

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Plasminogen activator inhibitor type 1 deficiency

Details: Plasminogen activator inhibitor type 1 (PAI1) deficiency is a rare bleeding disorder that causes excessive or prolonged bleeding due to blood clots being broken down too early. PAI1 is a protein in the body needed for normal blood clotting. When the body does not have enough functional PAI1, the body's ability keep blood clots intact is impaired.

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Urachal cyst Genetic and Rare Diseases Information

Details: A urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects the umbilical cord to the bladder in the developing baby.Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affect older children and adults.

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Biotinidase deficiency Genetic and Rare Diseases

Details: Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.

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Chromosome 16p deletion Genetic and Rare Diseases

Details: Chromosome 16p deletion is a chromosome abnormality that occurs when there is a missing copy of genetic material on the short arm (p) of chromosome 16.The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 16p deletion include developmental delay, intellectual

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Kikuchi disease Genetic and Rare Diseases Information

Details: Kikuchi disease is a benign (non-cancerous) condition of the lymph nodes. The main symptoms include swollen lymph nodes in the neck, mild fever, and night sweats. Less common symptoms include weight loss, nausea, vomiting, and sore throat. While the exact cause of this condition is unknown, infectious and autoimmune causes have been suggested.

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Statistical Overview for Clinical Trials

Details: – Needs a Formal Education in Statistics. 44 “Data Dredging” If you torture any data set long enough, it will confess to something! 45. Study Population of Interest and Design. Endpoint and Measurement of Outcome • The statistical analysis of a study leads to

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Protein S deficiency Genetic and Rare Diseases

Details: Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions to stop the bleeding. These chemical reactions involve proteins called blood coagulation factors.Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting.

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Autoimmune hemolytic anemia Genetic and Rare Diseases

Details: NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases. The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare

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Autism spectrum disorder Genetic and Rare Diseases

Details: Autism spectrum disorder (ASD) is a condition that affects the development of social and communication skills. It includes features of four conditions which were once thought to be separate syndromes - autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder. Signs and symptoms often become apparent in the first 2-3 years of life and vary

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Familial multiple lipomatosis Genetic and Rare Diseases

Details: Familial multiple lipomatosis (FML) is a rare condition that is characterized by multiple lipomas on the trunk and extremities. As the name suggests, FML is diagnosed when multiple lipomatosis occurs in more than one family member, often over several generations.

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Chronic myeloproliferative disorders Genetic and Rare

Details: Chronic myeloproliferative disorders are a group of slow-growing blood cancers in which the bone marrow makes too many abnormal red blood cells, white blood cells, or platelets, which accumulate in the blood.The type of myeloproliferative disorder is based on whether too many red blood cells, white blood cells, or platelets are being made.Sometimes the body will make too many of more than one

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Connective tissue diseases Genetic and Rare Diseases

Details: If you have problems viewing PDF files, download the latest version of Adobe Reader. For language access assistance, contact the NCATS Public Information Officer. Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

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Dieulafoy lesion Genetic and Rare Diseases Information

Details: Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine.Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is

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Childhood apraxia of speech Genetic and Rare Diseases

Details: Childhood apraxia of speech occurs in children and is present from birth. It appears to be more common in boys than girls. Children with this condition have difficulty planning and producing the precise, refined, and specific movements of the tongue, lips, jaw, and palate that are necessary for intelligible speech. In many cases, the underlying cause of childhood apraxia of speech is unknown

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Prader-Willi syndrome Genetic and Rare Diseases

Details: Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese.Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive

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Carnitine palmitoyltransferase 2 deficiency Genetic and

Details: Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The neonatal and infantile forms are severe multisystemic diseases characterized

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Chromosome 15q duplication Genetic and Rare Diseases

Details: Special education services are often necessary for children with intellectual disability. Surgery may be required to treat certain physical abnormalities such as cleft palate or congenital heart defects, if present. Please speak to your healthcare provider if you have any questions about your personal medical management plan.

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Watermelon stomach Genetic and Rare Diseases Information

Details: Watermelon stomach is a condition in which the lining of the stomach bleeds, causing it to look like the characteristic stripes of a watermelon when viewed by endoscopy.Although it can develop in men and women of all ages, watermelon stomach is most commonly observed in older women (over age 70 …

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Hereditary antithrombin deficiency Genetic and Rare

Details: Hereditary antithrombin deficiency, also known as antithrombin III deficiency or AT III deficiency, is a disorder in which individuals are at increased risk for developing blood clots.The type of blood clots seen in individuals with this condition are typically clots that form in the deep veins of the leg (deep vein thrombosis or DVT) and clots that lodge in the lungs (pulmonary embolism or PE).

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Epidermal nevus Genetic and Rare Diseases Information

Details: An epidermal nevus is a noncancerous (benign) patch of skin caused by an overgrowth of skin cells.The nevi (plural form of nevus) are seen at birth or develop in early childhood. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a …

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Diabetes mellitus type 1 Genetic and Rare Diseases

Details: Diabetes mellitus type 1 (DM1) is a condition in which cells in the pancreas (beta cells) stop producing insulin, causing abnormally high blood sugar levels. Lack of insulin results in the inability of the body to use glucose for energy and control the amount of sugar in the blood. DM1 can occur at any age, but usually develops by early adulthood, most often in adolescence.

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Hereditary alpha tryptasemia syndrome Genetic and Rare

Details: Hereditary alpha tryptasemia syndrome (HATS) is characterized by high blood tryptase levels. Symptoms of HATS are associated with multiple organ systems. These symptoms may include allergic-like symptoms such as skin itching, flushing, hives, or anaphylaxis; and gastrointestinal symptoms such as bloating, abdominal pain, diarrhea and/or constipation, heartburn, reflux, and difficulty swallowing.

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Autoimmune pancreatitis Genetic and Rare Diseases

Details: Autoimmune pancreatitis affects the pancreas, a gland behind the stomach and in front of the spine, and can also affect the bile ducts, salivary glands, kidneys, and lymph nodes.. It is thought to occur when the immune system mistakenly begins to attack these healthy body tissues, glands, and organs.. Common signs and symptoms include painless jaundice, weight loss, and noncancerous masses in

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Congenital pulmonary lymphangiectasia Genetic and Rare

Details: Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder that affects the lungs. It is present from birth and usually becomes apparent in the first few days of life with respiratory failure. It sometimes is apparent before birth with non-immune hydrops fetalis and pleural effusion (fluid in the lung). Infants with CPL often develop severe, potentially life-threatening

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Lupus erythematosus tumidus Genetic and Rare Diseases

Details: The Assistance Fund provides various services, including education and financial aid, to help patients with a chronic or serious illness cover the cost of FDA-approved medications. Patients must be U.S citizens or permanent residents. Learn More Learn More Listen. These resources provide more information about this condition or associated

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Lung adenocarcinoma Genetic and Rare Diseases

Details: Lung adenocarcinoma is a cancer that occurs due to abnormal and uncontrolled cell growth in the lungs. It is a subtype of non-small cell lung cancer that is often diagnosed in an outer area of the lung. Early lung cancers may not be associated with any signs and symptoms. As the condition progresses, affected people can experience chest pain, a persistent cough, fatigue, coughing up blood

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