List Of Rare Diseases
Rare diseases are diseases which do not attract lot of public attention, funding, or research, perhaps because they are extremely very rare and are poorly publicized. Some of the rare diseases include: -
Acrocephalosyndactylia
Acrodermatitis
Addison Disease
Adie Syndrome
Alagille Syndrome
Amylose
Amyotrophic Lateral Sclerosis
Angelman Syndrome
Angina Pectoris, Variant
Angiolymphoid Hyperplasia with Eosinophilia
Arnold-Chiari Malformation
Arthritis, Juvenile Rheumatoid
Asperger Syndrome
Bardet-Biedl Syndrome
Barrett Esophagus
Beckwith-Wiedemann Syndrome
Behcet Syndrome
Bloom Syndrome
Bowen's Disease
Brachial Plexus Neuropathies
Brown-Sequard Syndrome
Burkitt Lymphoma
Carcinoma 256, Walker
Caroli Disease
Chagas Disease
Charcot-Marie-Tooth Disease
Chediak-Higashi Syndrome
Chiari-Frommel Syndrome
Chondrodysplasia Punctata
Choreatic Disorders
Churg-Strauss Syndrome
Colonic Pseudo-Obstruction
Craniofacial Dysostosis
Creutzfeldt-Jakob Syndrome
Crohn Disease
Cushing Syndrome
De Lange Syndrome
Dementia, Vascular
Dermatitis Herpetiformis
Diffuse Cerebral Sclerosis of Schilder
Duane Retraction Syndrome
Dupuytren's Contracture
Dysautonomia, Familial
Ebstein's Anomaly
Ehlers-Danlos Syndrome
Eisenmenger Complex
Ellis-Van Creveld Syndrome
Encephalitis
Enchondromatosis
Epidermal Necrolysis, Toxic
Facial Hemiatrophy
Factor XII Deficiency
Fanconi Anemia
Felty's Syndrome
Fibrous Dysplasia, Polyostotic
Fox-Fordyce Disease
Friedreich Ataxia
Fusobacterium
Gardner Syndrome
Gaucher Disease
Gerstmann Syndrome
Giant Lymph Node Hyperplasia
Goldenhar Syndrome
Guillain-Barre Syndrome
Hallermann's Syndrome
Hallervorden-Spatz Syndrome
Hamartoma Syndrome, Multiple
Hartnup Disease
Hepatic Vein Thrombosis
Hepatolenticular Degeneration
Hereditary Motor and Sensory Neuropathies
Hippel-Lindau Disease
Hirschsprung Disease
Histiocytic Necrotizing Lymphadenitis
Histiocytosis, Langerhans-Cell
Histiocytosis, Sinus
Hodgkin Disease
Horner Syndrome
Huntington Disease
Hyperaldosteronism
Hyperostosis, Diffuse Idiopathic Skeletal
Hypopituitarism
Inappropriate ADH Syndrome
Intestinal Polyps
Isaacs Syndrome
Kartagener Syndrome
Kearns-Sayer Syndrome
Keratosis Follicularis
Klippel-Feil Syndrome
Klippel-Trenaunay-Weber Syndrome
Kluver-Bucy Syndrome
Korsakoff Syndrome
Lafora Disease
Lambert-Eaton Myasthenic Syndrome
Landau-Kleffner Syndrome
Langer-Giedion Syndrome
Leigh Disease
Lesch-Nyhan Syndrome
Leukodystrophy, Globoid Cell
Li-Fraumeni Syndrome
Long QT Syndrome
Lymphoma, Mantle-Cell
Machado-Joseph Disease
Mallory-Weiss Syndrome
Marek Disease
Marfan Syndrome
Meckel Diverticulum
Meige Syndrome
Melkersson-Rosenthal Syndrome
Meniere's Disease
Mikulicz' Disease
Miller Fisher Syndrome
Mobius Syndrome
Moyamoya Disease
Mucocutaneous Lymph Node Syndrome
Mullerian Ducts
Multiple Endocrine Neoplasia Type 1
Munchausen Syndrome by Proxy
Muscular Atrophy, Spinal
Neuroaxonal Dystrophies
Neuromyelitis Optica
Neuronal Ceroid-Lipofuscinoses
Niemann-Pick Diseases
Noonan Syndrome
Optic Atrophies, Hereditary
Osteitis Deformans
Osteochondritis
Osteochondrodysplasias
Paget's Disease, Mammary
Papillon-Lefevre Disease
Pelizaeus-Merzbacher Disease
Pemphigus, Benign Familial
Penile Induration
Pericarditis, Constrictive
Peroxisomal Disorders
Peutz-Jeghers Syndrome
Pick Disease of the Brain
Pierre Robin Syndrome
Pityriasis Lichenoides
Polycystic Ovary Syndrome
Polyendocrinopathies, Autoimmune
Prader-Willi Syndrome
Pulmonary Fibrosis
Pupil Disorders
Raynaud Disease
Reiter Syndrome
Rett Syndrome
Reye Syndrome
Rubinstein-Taybi Syndrome
Sandhoff Disease
Sarcoma, Ewing's
Shwartzman Phenomenon
Shy-Drager Syndrome
Sjogren's Syndrome
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophies of Childhood
Sturge-Weber Syndrome
Sweating, Gustatory
Sweet's Syndrome
Takayasu's Arteritis
Tangier Disease
Tay-Sachs Disease
Thromboangiitis Obliterans
Tietze's Syndrome
Togaviridae Infections
Tolosa-Hunt Syndrome
Tourette Syndrome
Uveomeningoencephalitic Syndrome
Waardenburg's Syndrome
Waldenstrom Macroglobulinemia
Wegener Granulomatosis
Weil Disease
Werner Syndrome
Williams Syndrome
Wilms Tumor
Wiskott-Aldrich Syndrome
Wolff-Parkinson-White Syndrome
Wolfram Syndrome
Wolman Disease
Zellweger Syndrome
Zollinger-Ellison Syndrome
Showing posts with label Genetic Diseases. Show all posts
Showing posts with label Genetic Diseases. Show all posts
Tuesday, June 24, 2014
Jewish Genetic Diseases
Jewish Genetic Diseases
Today, more than 4000 genetic diseases are known to affect humankind in a very negative way. The mystery of genetic diseases seems to wane as more and more people get to understand the basics of genetics better. The facts that people are continuing to get are proving to be very helpful by the day. The greatest mystery surrounding genetic diseases is the fact that they affect people of a particular family, ethnic group, race or demographic group. Against this backdrop, one can easily note that some diseases occur almost exclusively among the Jewish people.
Most genetic diseases that affect the Jewish people are incapacitating. A few of them have mild consequences on the patients' physical abilities. Tay-Sachs is the most commonly occurring genetic disease among the members of the Jewish community. This disease has mild negative effects, unlike many others, which are responsible for wiping out many Jewish families.
People who suffer from Jewish genetic diseases need to be taken care of in a very special way. Beta Thalassemia is a disease that is genetically transmitted among many Jews. This inherited disorder is also referred to as Cooley's anemia. Patients with this disease go through mutation of beta hemoglobin chain. No man can do anything in order to prevent this genetically triggered change from occurring.
Immediately after birth, a baby with Beta Thalassemia does no show any symptoms. This is because fetal hemoglobin is still the dominant element in the baby's blood. In a matter of months, everything changes and the symptoms come out. The condition starts worsening. Children develop anemia that is life threatening.
Bloom's Syndrome is a genetic disease that is also very common among Jews. It is transmitted through a recessive gene. In this case, both parents should be carriers of the recessive gene in order for the disease to be passed on to future generations. All victims of this disease have a very short stature and a very high-pitched voice. They are also highly susceptible to respiratory illnesses. People with Bloom's syndrome also tend to be mentally retarded.
The Bloom's Syndrome can be tested through chromosome analysis. Once this has been done, the diagnosis process can be said to be complete. In order for carrier testing to be done, a sample of a person's blood is needed. The test will ascertain whether any gene changes have occurred. This disease is very common among the Ashkenazi Jews.
Today, more than 4000 genetic diseases are known to affect humankind in a very negative way. The mystery of genetic diseases seems to wane as more and more people get to understand the basics of genetics better. The facts that people are continuing to get are proving to be very helpful by the day. The greatest mystery surrounding genetic diseases is the fact that they affect people of a particular family, ethnic group, race or demographic group. Against this backdrop, one can easily note that some diseases occur almost exclusively among the Jewish people.
Most genetic diseases that affect the Jewish people are incapacitating. A few of them have mild consequences on the patients' physical abilities. Tay-Sachs is the most commonly occurring genetic disease among the members of the Jewish community. This disease has mild negative effects, unlike many others, which are responsible for wiping out many Jewish families.
People who suffer from Jewish genetic diseases need to be taken care of in a very special way. Beta Thalassemia is a disease that is genetically transmitted among many Jews. This inherited disorder is also referred to as Cooley's anemia. Patients with this disease go through mutation of beta hemoglobin chain. No man can do anything in order to prevent this genetically triggered change from occurring.
Immediately after birth, a baby with Beta Thalassemia does no show any symptoms. This is because fetal hemoglobin is still the dominant element in the baby's blood. In a matter of months, everything changes and the symptoms come out. The condition starts worsening. Children develop anemia that is life threatening.
Bloom's Syndrome is a genetic disease that is also very common among Jews. It is transmitted through a recessive gene. In this case, both parents should be carriers of the recessive gene in order for the disease to be passed on to future generations. All victims of this disease have a very short stature and a very high-pitched voice. They are also highly susceptible to respiratory illnesses. People with Bloom's syndrome also tend to be mentally retarded.
The Bloom's Syndrome can be tested through chromosome analysis. Once this has been done, the diagnosis process can be said to be complete. In order for carrier testing to be done, a sample of a person's blood is needed. The test will ascertain whether any gene changes have occurred. This disease is very common among the Ashkenazi Jews.
Inherited Genetic Diseases
Inherited Genetic Diseases
It is important to have an insight into, and some knowledge about inherited genetic diseases, especially if one is planning to have a baby. Having sufficient knowledge can be of help in preventing the baby from acquiring such a disease.
Most birth related defects are usually inherited genetic diseases. This is normally a condition which leads to abnormalities in the structure and function of the baby right from birth. Often, these types of defects are genetic in nature, and are passed to the baby from the parents. However, some isolated cases may not be hereditary, and could be due to environmental hazards or external effects, exposed to the mother at pregnancy.
There are thousands of known inherited genetic diseases. Genetic diseases are varied in intensity and types. These may include physical conditions or defects, or delays in normal development of the child. Some inherited genetic diseases may be deadly. Sadly, all inherited genetic diseases cause a lot of physical and emotional pain both to the patient and to the parents.
Inherited genetic diseases can be passed down through various ways. They can be transmitted from the father, the mother or even both parents. In case where both parents have defaults in their genes, the defects are often inherited by the baby. On the other hand, where only one parent has a genetic defect, it is also possible for the defect to be passed on to the child. The other case is where the mother specifically passes on a genetic condition to the male offspring. This is a defect that affects only the X-chromosome. The baby is likely to have an inherited genetic disease if the X-chromosome of the mother is faulty.
Among the several common inherited genetic diseases include muscular diseases, usually inherited from the mother, and central nervous system defects - which may cause blindness, dementia and seizures. This is a dangerous and possibly fatal inherited genetic condition, especially if both parents have it. The other common condition is sickle cell anaemia, which is a disorder of the red blood cells. It can cause pain, fatigue and other health complications. The likelihood of the child inheriting this condition is higher if both parents carry the gene.
A basic precaution for parents to safeguard their unborn babies from acquiring inherited genetic diseases would be to maintain a healthy lifestyle and diet, especially for the mother throughout her pregnancy.
It is important to have an insight into, and some knowledge about inherited genetic diseases, especially if one is planning to have a baby. Having sufficient knowledge can be of help in preventing the baby from acquiring such a disease.
Most birth related defects are usually inherited genetic diseases. This is normally a condition which leads to abnormalities in the structure and function of the baby right from birth. Often, these types of defects are genetic in nature, and are passed to the baby from the parents. However, some isolated cases may not be hereditary, and could be due to environmental hazards or external effects, exposed to the mother at pregnancy.
There are thousands of known inherited genetic diseases. Genetic diseases are varied in intensity and types. These may include physical conditions or defects, or delays in normal development of the child. Some inherited genetic diseases may be deadly. Sadly, all inherited genetic diseases cause a lot of physical and emotional pain both to the patient and to the parents.
Inherited genetic diseases can be passed down through various ways. They can be transmitted from the father, the mother or even both parents. In case where both parents have defaults in their genes, the defects are often inherited by the baby. On the other hand, where only one parent has a genetic defect, it is also possible for the defect to be passed on to the child. The other case is where the mother specifically passes on a genetic condition to the male offspring. This is a defect that affects only the X-chromosome. The baby is likely to have an inherited genetic disease if the X-chromosome of the mother is faulty.
Among the several common inherited genetic diseases include muscular diseases, usually inherited from the mother, and central nervous system defects - which may cause blindness, dementia and seizures. This is a dangerous and possibly fatal inherited genetic condition, especially if both parents have it. The other common condition is sickle cell anaemia, which is a disorder of the red blood cells. It can cause pain, fatigue and other health complications. The likelihood of the child inheriting this condition is higher if both parents carry the gene.
A basic precaution for parents to safeguard their unborn babies from acquiring inherited genetic diseases would be to maintain a healthy lifestyle and diet, especially for the mother throughout her pregnancy.
Human Genetic Diseases
Human Genetic Diseases
The main reason why genetic diseases are a cause of worry for many people is the fact that man can do little to prevent them from occurring. Genetic diseases occur because of chromosome problems. Some genetic diseases are extremely rare while others occur more often.
Some genetic diseases relate to one's reproductive health. Recent research has also shown that some genetic diseases are gender-driven, that is, they affect members of one gender only. A case in point is color blindness, which is known to affect male members of a community only.
Researchers have devised several ways of drawing ethnic, racial and demographic lines when researching on human genetic diseases. When researching the Alzheimer's disease, scientists had to rely on a previous finding, which showed that very few cases of the disease are reported among the Caucasian people.
The Alzheimer's disease can bring rather catastrophic effects to both the patients and loved ones. It affects the brain and makes the patient lose memory and psychomotor coordination. The patient loses complete control of all his bodily functions. One does not even remember to eat. If food is put into his mouth, he does not know when to chew and when to swallow. Such patients require special care, often in a nursing home. Majority of people who are affected are over sixty years.
DNA tests are always helpful in determining if any member of the family is a carrier of a dominant gene. Some genetic diseases are caused by dominant genes. In some cases, recessive genes also cause genetic disorders. In families where the genetic disorders are caused by a dominant gene, if the parent has the disease, the sibling has a 50% likelihood of suffering from the same disease at some point in life.
The process of diagnosing genetic disorder is very complicated. As if that is not enough, one has to take care of the patient both financially and psychologically. This might drain a family's financial resources. It can also make one marriage partner feel emotionally detached. Help from third parties would be very much appreciated.
Many support groups for people who suffer from genetic disorders have been set up across the country. A person who suffers from a genetic condition can reap many benefits by becoming a member of such a group. One can get to know how to pursue treatment. One can get to regain a feeling of belonging after depressive moments especially immediately after diagnosis.
The main reason why genetic diseases are a cause of worry for many people is the fact that man can do little to prevent them from occurring. Genetic diseases occur because of chromosome problems. Some genetic diseases are extremely rare while others occur more often.
Some genetic diseases relate to one's reproductive health. Recent research has also shown that some genetic diseases are gender-driven, that is, they affect members of one gender only. A case in point is color blindness, which is known to affect male members of a community only.
Researchers have devised several ways of drawing ethnic, racial and demographic lines when researching on human genetic diseases. When researching the Alzheimer's disease, scientists had to rely on a previous finding, which showed that very few cases of the disease are reported among the Caucasian people.
The Alzheimer's disease can bring rather catastrophic effects to both the patients and loved ones. It affects the brain and makes the patient lose memory and psychomotor coordination. The patient loses complete control of all his bodily functions. One does not even remember to eat. If food is put into his mouth, he does not know when to chew and when to swallow. Such patients require special care, often in a nursing home. Majority of people who are affected are over sixty years.
DNA tests are always helpful in determining if any member of the family is a carrier of a dominant gene. Some genetic diseases are caused by dominant genes. In some cases, recessive genes also cause genetic disorders. In families where the genetic disorders are caused by a dominant gene, if the parent has the disease, the sibling has a 50% likelihood of suffering from the same disease at some point in life.
The process of diagnosing genetic disorder is very complicated. As if that is not enough, one has to take care of the patient both financially and psychologically. This might drain a family's financial resources. It can also make one marriage partner feel emotionally detached. Help from third parties would be very much appreciated.
Many support groups for people who suffer from genetic disorders have been set up across the country. A person who suffers from a genetic condition can reap many benefits by becoming a member of such a group. One can get to know how to pursue treatment. One can get to regain a feeling of belonging after depressive moments especially immediately after diagnosis.
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