Tay Sachs Disease
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Tay-Sachs disease is a rare genetic disorder where harmful amounts of fat build up in nerve cells, causing seizures, loss of skills, and eventual death by age 5 in most cases. It is inherited when both parents carry a mutated gene and have a 25% chance of passing it to their child. Symptoms appear before 6 months of age and include losing abilities like smiling, crawling, and eye contact. Currently there is no cure, though supportive treatments can help manage symptoms. Testing for carriers is done with a blood test.
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Tay Sachs disease
Tay Sachs disease is a fatal genetic disorder that results in the progressive destruction of the nervous system in children. It is caused by the absence of the enzyme hexosaminidase A, which leads to the abnormal accumulation of a fatty substance called GM2 ganglioside in nerve cells, especially in the brain. This causes cell damage and death. There is currently no treatment for Tay Sachs disease, which is usually fatal by age 4. The disease is inherited in an autosomal recessive pattern and has a high incidence among Ashkenazi Jews, French Canadians, and Cajuns.
Tay sach disease ppt 1
This document provides information about Tay-Sachs disease, a rare inherited disorder. It describes how the disease was discovered in 1880 by Warren Tay and Bernard Sachs and is most common in people of Ashkenazi Jewish descent. Tay-Sachs disease destroys nerve cells in the brain and spinal cord, with symptoms starting between 3-6 months of age. It is caused by a genetic mutation and is usually fatal by age 4-5 years old. Currently there is no cure, but research into gene therapy and enzyme replacement therapy is ongoing.
Tay Sachs
Tay Sachs disease is caused by a lack of enzymes needed to break down fatty proteins and waste in the brain. Babies with Tay Sachs are born without these enzymes, causing waste to build up and destroy brain tissue. Symptoms include blindness, deafness, muscle weakness, seizures, and a "cherry red" spot in the retina. It most often affects Ashkenazi Jewish infants in their first few months, though it is rare in other populations. There is currently no cure, and affected children typically die by age 4 as the condition progresses. Research continues to search for a cure or treatment.
Tay sachs DISEASE
Tay-Sachs disease is a rare, fatal genetic disorder that is caused by the lack of an enzyme called hexosaminidase A. It primarily affects Ashkenazi Jewish populations and people of French-Canadian or Cajun heritage. The disease causes harmful ganglioside buildup in neurons which leads to progressive damage to the nervous system and loss of physical and mental abilities over time, ultimately resulting in death in childhood. There is currently no treatment or way to prevent the progression of Tay-Sachs disease.
TAY-SACHS DISEASE
Tay-Sachs disease is a rare genetic disorder caused by mutations in the HEXA gene resulting in reduced or absent levels of the enzyme beta-hexosaminidase A. This enzyme normally helps break down a fatty substance called GM2 ganglioside in neurons. Without enough enzyme activity, GM2 ganglioside accumulates toxically in the brain. There are three main types classified by age of neurological symptom onset - infantile, juvenile, and adult-onset. Currently there is no cure, so treatment aims to manage symptoms and provide comfort through physical therapy, feeding tubes, medication, etc. Potential future treatments include gene therapy and enzyme replacement research.
Tay sachs disease
Tay-Sachs disease is a rare genetic disorder caused by mutations in the HEXA gene that result in a deficiency of the hexosaminidase A enzyme. This enzyme deficiency prevents the breakdown of a fatty substance called GM2 ganglioside, which accumulates in brain cells and leads to progressive damage and death, usually by age 4. There are three main forms based on age of onset: infantile, juvenile, and adult. Infantile Tay-Sachs causes neurological deterioration by 6 months of age and death by age 4. Juvenile onset occurs between ages 2-10 and death by age 15. Adult onset causes progressive symptoms starting in adolescence or early adulthood. Diagnosis involves eye
Tay-Sach’s Disease
Tay-Sach's Disease is a rare genetic metabolic disorder caused by a deficiency of the enzyme hexosaminidase A, which results in a failure to process GM2 ganglioside that accumulates in the brain and other tissues. It was first described by Waren Tay and Bernard Sachs, who distinguished it from other neurological disorders. There are three types - infantile, juvenile, and adult-onset - with infantile being the most severe and typically resulting in death within the first few years of life. The disease is inherited in an autosomal recessive pattern and causes a progressive deterioration of nerve cells and mental/physical abilities due to harmful accumulation of gangliosides in brain cells over time. While there
TAY-SACHS DISEASE Presentation
Tay-sachs disease
introduction
mechanism
types of tay-sachs
pathophysiology
diagnosis and treatment
Recommended
Tay Sachs disease
Tay Sachs disease is a fatal genetic disorder that results in the progressive destruction of the nervous system in children. It is caused by the absence of the enzyme hexosaminidase A, which leads to the abnormal accumulation of a fatty substance called GM2 ganglioside in nerve cells, especially in the brain. This causes cell damage and death. There is currently no treatment for Tay Sachs disease, which is usually fatal by age 4. The disease is inherited in an autosomal recessive pattern and has a high incidence among Ashkenazi Jews, French Canadians, and Cajuns.
Tay sach disease ppt 1
This document provides information about Tay-Sachs disease, a rare inherited disorder. It describes how the disease was discovered in 1880 by Warren Tay and Bernard Sachs and is most common in people of Ashkenazi Jewish descent. Tay-Sachs disease destroys nerve cells in the brain and spinal cord, with symptoms starting between 3-6 months of age. It is caused by a genetic mutation and is usually fatal by age 4-5 years old. Currently there is no cure, but research into gene therapy and enzyme replacement therapy is ongoing.
Tay Sachs
Tay Sachs disease is caused by a lack of enzymes needed to break down fatty proteins and waste in the brain. Babies with Tay Sachs are born without these enzymes, causing waste to build up and destroy brain tissue. Symptoms include blindness, deafness, muscle weakness, seizures, and a "cherry red" spot in the retina. It most often affects Ashkenazi Jewish infants in their first few months, though it is rare in other populations. There is currently no cure, and affected children typically die by age 4 as the condition progresses. Research continues to search for a cure or treatment.
Tay sachs DISEASE
Tay-Sachs disease is a rare, fatal genetic disorder that is caused by the lack of an enzyme called hexosaminidase A. It primarily affects Ashkenazi Jewish populations and people of French-Canadian or Cajun heritage. The disease causes harmful ganglioside buildup in neurons which leads to progressive damage to the nervous system and loss of physical and mental abilities over time, ultimately resulting in death in childhood. There is currently no treatment or way to prevent the progression of Tay-Sachs disease.
TAY-SACHS DISEASE
Tay-Sachs disease is a rare genetic disorder caused by mutations in the HEXA gene resulting in reduced or absent levels of the enzyme beta-hexosaminidase A. This enzyme normally helps break down a fatty substance called GM2 ganglioside in neurons. Without enough enzyme activity, GM2 ganglioside accumulates toxically in the brain. There are three main types classified by age of neurological symptom onset - infantile, juvenile, and adult-onset. Currently there is no cure, so treatment aims to manage symptoms and provide comfort through physical therapy, feeding tubes, medication, etc. Potential future treatments include gene therapy and enzyme replacement research.
Tay sachs disease
Tay-Sachs disease is a rare genetic disorder caused by mutations in the HEXA gene that result in a deficiency of the hexosaminidase A enzyme. This enzyme deficiency prevents the breakdown of a fatty substance called GM2 ganglioside, which accumulates in brain cells and leads to progressive damage and death, usually by age 4. There are three main forms based on age of onset: infantile, juvenile, and adult. Infantile Tay-Sachs causes neurological deterioration by 6 months of age and death by age 4. Juvenile onset occurs between ages 2-10 and death by age 15. Adult onset causes progressive symptoms starting in adolescence or early adulthood. Diagnosis involves eye
Tay-Sach’s Disease
Tay-Sach's Disease is a rare genetic metabolic disorder caused by a deficiency of the enzyme hexosaminidase A, which results in a failure to process GM2 ganglioside that accumulates in the brain and other tissues. It was first described by Waren Tay and Bernard Sachs, who distinguished it from other neurological disorders. There are three types - infantile, juvenile, and adult-onset - with infantile being the most severe and typically resulting in death within the first few years of life. The disease is inherited in an autosomal recessive pattern and causes a progressive deterioration of nerve cells and mental/physical abilities due to harmful accumulation of gangliosides in brain cells over time. While there
TAY-SACHS DISEASE Presentation
Tay-sachs disease
introduction
mechanism
types of tay-sachs
pathophysiology
diagnosis and treatment
Tay – sachs disease
Tay-Sachs disease is a rare genetic disorder caused by mutations in the HEXA gene that result in a deficiency of the enzyme hexosaminidase A. This prevents the breakdown of GM2 ganglioside, which accumulates toxically in neurons, especially in the brain and spinal cord. Early symptoms include declining development and muscle weakness in infants. Eventually, children experience blindness, deafness, paralysis and dementia, leading to death by age 5. It is inherited in an autosomal recessive pattern and affects Ashkenazi Jewish populations at higher rates.
Tay sachs disease
Tay-Sachs disease is a rare genetic disorder that causes fatty substances to build up in brain cells, leading to nerve cell damage and death. There are three main types - Classic Infantile, Juvenile, and Late Onset. Classic Infantile symptoms usually appear around 6 months of age and include slowed development and loss of skills. Juvenile symptoms begin in childhood and include slurred speech and muscle weakness. Late Onset symptoms may first appear in childhood or adulthood and include weakness and mental/mobility decline. Tay-Sachs is diagnosed through a blood or genetic test and managed through symptom relief but has no cure.
Lysosomal storage disorders
Lysosomal storage disorders are a group of inherited metabolic diseases caused by deficiencies of lysosomal enzymes. This results in the accumulation of substrates in the lysosomes which causes cellular dysfunction. Some examples discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, and Fabry disease. The document provides an overview of the causes and characteristics of these lysosomal storage disorders.
Gaucher Disease
Gaucher disease is an inherited disorder caused by a deficiency of the glucocerebrosidase enzyme, which causes harmful substances to accumulate in organs. There are several types of Gaucher disease. Type 1 is the most common and usually does not affect the nervous system. Types 2 and 3 do affect the nervous system and can cause neurological problems. Symptoms vary depending on type but may include bone and organ enlargement, fatigue, easy bruising, and lung and heart problems. Diagnosis involves blood tests, imaging, and genetic testing. Treatment options include enzyme replacement therapy and bone marrow transplant for severe cases.
The biochemistry of tay sachs disease
Tay- Sachs disease is an autosomal recessive fatal genetic disorder, that progressively destroys nerve cells in the brain and spinal cord.
Implications of Tay-Sachs Disease: A Case Study for Public Knowledge
In this presentation and quiz bowl, I explain what Tay-Sachs Disease is, how it is determined, how lethal it is, and possible treatment options. I also provide an overview of basic genetics, molecular biology, and a few experimental techniques! Enjoy! At the end of each of section, there are quiz questions. So break into teams and enjoy the presentation!
Patau syndrome
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra chromosome 13. It affects about 1 in 12,000 live births and causes severe intellectual and physical disabilities. Common signs include microcephaly, eye abnormalities, cleft palate, extra fingers or toes, and heart defects. While there is no cure, surgery can address some physical defects, though over 80% of infants with Patau syndrome do not survive past their first year.
Tay Sachs Disease
Tay Sachs disease is a rare genetic disorder caused by mutations in the HEXA gene resulting in a buildup of fatty substances in the brain and nerves. It typically causes severe mental and physical deterioration in children from a young age and is fatal by age 5. It is an autosomal recessive disorder requiring one defective copy of the gene from each parent, who are often carriers themselves. There is currently no cure for Tay Sachs disease.
Multifactorial disorders
Multifactorial disorders are caused by multiple genes interacting with environmental factors, with each factor making a small contribution. Common multifactorial disorders include asthma, autoimmune diseases, cancers, cardiovascular diseases, diabetes, and mood disorders. The risk of developing a multifactorial disorder is influenced by family history and other genetic and environmental risk factors. Treatment depends on the specific disorder but may include controlling environmental triggers, medication, and lifestyle changes.
Tay Sachs
This group presentation explores a recessive genetic disorder known as Tay Sachs which affects the Central Nervous System, destroying neurons in the brain and spinal cord.
Lysosomal Storage Disease
Lysosomal storage diseases are caused by a lack of enzymes in lysosomes that normally break down unwanted substances in cells. This causes substances to build up and damage cells over time, leading to progressive physical and mental deterioration. There are over 40 types of lysosomal diseases that vary in severity from mild to fatal. The prognosis depends on the type and severity of the disease, with typical forms causing a full set of symptoms and reduced life expectancy of around 15 years.
Down Syndrome
Down syndrome is a genetic condition caused by an extra copy of chromosome 21. It causes delays in mental and physical development. Common physical signs include a flattened nose, upward slanting eyes, and separated skull bones. While there is no cure, treatments focus on managing medical conditions like heart defects. People with Down syndrome can live independently into middle age but have an increased risk of dementia. Advocacy groups like the National Down Syndrome Society provide support and raise funds for research.
Fabry disease by Farshid Mokhberi
Fabry disease runs in families. It can have lots of different symptoms, including pain in the hands and feet and a specific kind of rash.When you have Fabry disease, a certain type of fatty substance builds up in your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system.
6.2 Human Genetic Disorders 2019
Genetic disorders can be caused by changes in genes or chromosomes. There are two major types - those caused by mutations in DNA sequences and those caused by changes in chromosome structure or number. Some examples of genetic disorders discussed include Down syndrome, Klinefelter syndrome, Turner syndrome, sickle cell anemia, cystic fibrosis, hemophilia, muscular dystrophy, Huntington's disease, ALS, diabetes, color blindness, albinism, achondroplasia, and hairy ears syndrome. Pedigrees and karyotypes are tools used to study genetics and inheritance patterns of traits and disorders.
Lysosomal storage diseases
Lysosomal storage diseases are a group of disorders caused by deficiencies in lysosomal enzymes, leading to an accumulation of substrates. Some key lysosomal storage diseases discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, Krabbe disease, and Batten disease. Gaucher disease results from glucocerebrosidase deficiency and causes liver and spleen enlargement. Tay-Sachs disease is fatal in most cases due to hexosaminidase A deficiency, causing mental retardation and cherry red spots. Niemann-Pick disease involves sphingomyelinase deficiency and causes liver/spleen enlargement and neurological symptoms.
Chromosomal abnormalities
Chromosomal abnormalities are alterations in a person's karyotype that can be detected by studying their chromosomes. There are two main types: numerical abnormalities which involve changes in chromosome number like monosomy, trisomy, Klinefelter syndrome, and Down syndrome; and structural abnormalities which involve changes in chromosome structure like deletions, duplications, translocations, and inversions. Common numerical abnormalities result in conditions such as Turner syndrome, Klinefelter syndrome, and Down syndrome which can cause intellectual disabilities and other health issues.
Down Syndrome
Down Syndrome occurs when there is an extra chromosome on the 21st chromosome. This leads to certain physical characteristics and health issues. While there is no cure, treatments can help address medical problems and therapy can help with skills. Research continues to seek a cure and help future patients.
Down's Syndrome
Down's Syndrome, also known as trisomy 21, is a genetic condition where a person has 47 chromosomes instead of the usual 46, causing mental retardation and other problems ranging from mild to serious. Common physical signs include a flattened nose, small ears and mouth, upward slanting eyes, and short hands and fingers. Risk factors include increased maternal age and parents being carriers of the translocation. While there is no cure, early intervention and treatment of complications like heart defects can help development.
Explanation of autosomal dominant inheritance
This document contains a series of slides explaining autosomal dominant inheritance from parents to children. The slides show that autosomal dominant conditions are caused by alterations in genes located on chromosomes other than the sex chromosomes. If one parent has the altered gene and passes it on to their child, the child has a 50% chance of inheriting the condition. An example is provided of a family where raised cholesterol is inherited in this autosomal dominant pattern. The slides are intended to demonstrate autosomal dominant inheritance for teaching purposes.
Patau Syndrome
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra copy of chromosome 13. It often results in miscarriage, stillbirth, or death in the first year of life. Babies born with Patau syndrome experience slow growth and development with low birth weight. They typically have several serious medical problems affecting the brain, heart, kidneys and other organs. While there is no cure, treatment aims to address symptoms through surgery, feeding tubes, and therapies. Most children with Patau syndrome do not survive past one year of age.
Tay Sachs
La enfermedad de Tay-Sachs es un trastorno hereditario raro que causa la acumulación de grasa en el cerebro de los bebés, lo que impide el funcionamiento normal de las células nerviosas y provoca ceguera, sordera y parálisis, llevando a la muerte a la mayoría de los niños antes de los cinco años. Se transmite cuando ambos padres son portadores de un gen defectuoso que impide producir una enzima necesaria para descomponer la grasa en el cerebro. Existen pruebas prenatales que
Tay-Sachs Disease
Tay-Sachs disease is a genetic disorder caused by mutations in the HEXA gene that result in a buildup of gangliosides in neurons. It is typically fatal in children by age 5. There are three main types - infantile Tay-Sachs disease, which appears before 6 months and results in death by age 3-4; juvenile Tay-Sachs disease, which occurs between ages 2-10 and results in death by ages 5-15; and adult Tay-Sachs disease, which is very rare and non-fatal but causes progressive neurological symptoms. Prevention relies on genetic screening and counseling for at-risk populations.
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Tay – sachs disease
Tay-Sachs disease is a rare genetic disorder caused by mutations in the HEXA gene that result in a deficiency of the enzyme hexosaminidase A. This prevents the breakdown of GM2 ganglioside, which accumulates toxically in neurons, especially in the brain and spinal cord. Early symptoms include declining development and muscle weakness in infants. Eventually, children experience blindness, deafness, paralysis and dementia, leading to death by age 5. It is inherited in an autosomal recessive pattern and affects Ashkenazi Jewish populations at higher rates.
Tay sachs disease
Tay-Sachs disease is a rare genetic disorder that causes fatty substances to build up in brain cells, leading to nerve cell damage and death. There are three main types - Classic Infantile, Juvenile, and Late Onset. Classic Infantile symptoms usually appear around 6 months of age and include slowed development and loss of skills. Juvenile symptoms begin in childhood and include slurred speech and muscle weakness. Late Onset symptoms may first appear in childhood or adulthood and include weakness and mental/mobility decline. Tay-Sachs is diagnosed through a blood or genetic test and managed through symptom relief but has no cure.
Lysosomal storage disorders
Lysosomal storage disorders are a group of inherited metabolic diseases caused by deficiencies of lysosomal enzymes. This results in the accumulation of substrates in the lysosomes which causes cellular dysfunction. Some examples discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, and Fabry disease. The document provides an overview of the causes and characteristics of these lysosomal storage disorders.
Gaucher Disease
Gaucher disease is an inherited disorder caused by a deficiency of the glucocerebrosidase enzyme, which causes harmful substances to accumulate in organs. There are several types of Gaucher disease. Type 1 is the most common and usually does not affect the nervous system. Types 2 and 3 do affect the nervous system and can cause neurological problems. Symptoms vary depending on type but may include bone and organ enlargement, fatigue, easy bruising, and lung and heart problems. Diagnosis involves blood tests, imaging, and genetic testing. Treatment options include enzyme replacement therapy and bone marrow transplant for severe cases.
The biochemistry of tay sachs disease
Tay- Sachs disease is an autosomal recessive fatal genetic disorder, that progressively destroys nerve cells in the brain and spinal cord.
Implications of Tay-Sachs Disease: A Case Study for Public Knowledge
In this presentation and quiz bowl, I explain what Tay-Sachs Disease is, how it is determined, how lethal it is, and possible treatment options. I also provide an overview of basic genetics, molecular biology, and a few experimental techniques! Enjoy! At the end of each of section, there are quiz questions. So break into teams and enjoy the presentation!
Patau syndrome
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra chromosome 13. It affects about 1 in 12,000 live births and causes severe intellectual and physical disabilities. Common signs include microcephaly, eye abnormalities, cleft palate, extra fingers or toes, and heart defects. While there is no cure, surgery can address some physical defects, though over 80% of infants with Patau syndrome do not survive past their first year.
Tay Sachs Disease
Tay Sachs disease is a rare genetic disorder caused by mutations in the HEXA gene resulting in a buildup of fatty substances in the brain and nerves. It typically causes severe mental and physical deterioration in children from a young age and is fatal by age 5. It is an autosomal recessive disorder requiring one defective copy of the gene from each parent, who are often carriers themselves. There is currently no cure for Tay Sachs disease.
Multifactorial disorders
Multifactorial disorders are caused by multiple genes interacting with environmental factors, with each factor making a small contribution. Common multifactorial disorders include asthma, autoimmune diseases, cancers, cardiovascular diseases, diabetes, and mood disorders. The risk of developing a multifactorial disorder is influenced by family history and other genetic and environmental risk factors. Treatment depends on the specific disorder but may include controlling environmental triggers, medication, and lifestyle changes.
Tay Sachs
This group presentation explores a recessive genetic disorder known as Tay Sachs which affects the Central Nervous System, destroying neurons in the brain and spinal cord.
Lysosomal Storage Disease
Lysosomal storage diseases are caused by a lack of enzymes in lysosomes that normally break down unwanted substances in cells. This causes substances to build up and damage cells over time, leading to progressive physical and mental deterioration. There are over 40 types of lysosomal diseases that vary in severity from mild to fatal. The prognosis depends on the type and severity of the disease, with typical forms causing a full set of symptoms and reduced life expectancy of around 15 years.
Down Syndrome
Down syndrome is a genetic condition caused by an extra copy of chromosome 21. It causes delays in mental and physical development. Common physical signs include a flattened nose, upward slanting eyes, and separated skull bones. While there is no cure, treatments focus on managing medical conditions like heart defects. People with Down syndrome can live independently into middle age but have an increased risk of dementia. Advocacy groups like the National Down Syndrome Society provide support and raise funds for research.
Fabry disease by Farshid Mokhberi
Fabry disease runs in families. It can have lots of different symptoms, including pain in the hands and feet and a specific kind of rash.When you have Fabry disease, a certain type of fatty substance builds up in your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system.
6.2 Human Genetic Disorders 2019
Genetic disorders can be caused by changes in genes or chromosomes. There are two major types - those caused by mutations in DNA sequences and those caused by changes in chromosome structure or number. Some examples of genetic disorders discussed include Down syndrome, Klinefelter syndrome, Turner syndrome, sickle cell anemia, cystic fibrosis, hemophilia, muscular dystrophy, Huntington's disease, ALS, diabetes, color blindness, albinism, achondroplasia, and hairy ears syndrome. Pedigrees and karyotypes are tools used to study genetics and inheritance patterns of traits and disorders.
Lysosomal storage diseases
Lysosomal storage diseases are a group of disorders caused by deficiencies in lysosomal enzymes, leading to an accumulation of substrates. Some key lysosomal storage diseases discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, Krabbe disease, and Batten disease. Gaucher disease results from glucocerebrosidase deficiency and causes liver and spleen enlargement. Tay-Sachs disease is fatal in most cases due to hexosaminidase A deficiency, causing mental retardation and cherry red spots. Niemann-Pick disease involves sphingomyelinase deficiency and causes liver/spleen enlargement and neurological symptoms.
Chromosomal abnormalities
Chromosomal abnormalities are alterations in a person's karyotype that can be detected by studying their chromosomes. There are two main types: numerical abnormalities which involve changes in chromosome number like monosomy, trisomy, Klinefelter syndrome, and Down syndrome; and structural abnormalities which involve changes in chromosome structure like deletions, duplications, translocations, and inversions. Common numerical abnormalities result in conditions such as Turner syndrome, Klinefelter syndrome, and Down syndrome which can cause intellectual disabilities and other health issues.
Down Syndrome
Down Syndrome occurs when there is an extra chromosome on the 21st chromosome. This leads to certain physical characteristics and health issues. While there is no cure, treatments can help address medical problems and therapy can help with skills. Research continues to seek a cure and help future patients.
Down's Syndrome
Down's Syndrome, also known as trisomy 21, is a genetic condition where a person has 47 chromosomes instead of the usual 46, causing mental retardation and other problems ranging from mild to serious. Common physical signs include a flattened nose, small ears and mouth, upward slanting eyes, and short hands and fingers. Risk factors include increased maternal age and parents being carriers of the translocation. While there is no cure, early intervention and treatment of complications like heart defects can help development.
Explanation of autosomal dominant inheritance
This document contains a series of slides explaining autosomal dominant inheritance from parents to children. The slides show that autosomal dominant conditions are caused by alterations in genes located on chromosomes other than the sex chromosomes. If one parent has the altered gene and passes it on to their child, the child has a 50% chance of inheriting the condition. An example is provided of a family where raised cholesterol is inherited in this autosomal dominant pattern. The slides are intended to demonstrate autosomal dominant inheritance for teaching purposes.
Patau Syndrome
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra copy of chromosome 13. It often results in miscarriage, stillbirth, or death in the first year of life. Babies born with Patau syndrome experience slow growth and development with low birth weight. They typically have several serious medical problems affecting the brain, heart, kidneys and other organs. While there is no cure, treatment aims to address symptoms through surgery, feeding tubes, and therapies. Most children with Patau syndrome do not survive past one year of age.
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Implications of Tay-Sachs Disease: A Case Study for Public Knowledge
Implications of Tay-Sachs Disease: A Case Study for Public Knowledge
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Tay Sachs
La enfermedad de Tay-Sachs es un trastorno hereditario raro que causa la acumulación de grasa en el cerebro de los bebés, lo que impide el funcionamiento normal de las células nerviosas y provoca ceguera, sordera y parálisis, llevando a la muerte a la mayoría de los niños antes de los cinco años. Se transmite cuando ambos padres son portadores de un gen defectuoso que impide producir una enzima necesaria para descomponer la grasa en el cerebro. Existen pruebas prenatales que
Tay-Sachs Disease
Tay-Sachs disease is a genetic disorder caused by mutations in the HEXA gene that result in a buildup of gangliosides in neurons. It is typically fatal in children by age 5. There are three main types - infantile Tay-Sachs disease, which appears before 6 months and results in death by age 3-4; juvenile Tay-Sachs disease, which occurs between ages 2-10 and results in death by ages 5-15; and adult Tay-Sachs disease, which is very rare and non-fatal but causes progressive neurological symptoms. Prevention relies on genetic screening and counseling for at-risk populations.
justin tay sachs disease
Babies with Tay-Sachs disease appear healthy at first but slowly become blind, deaf, paralyzed and unresponsive by age 5, usually dying around age 5, as their bodies cannot break down a fatty waste substance in brain cells. The disease is inherited when each parent carries the Tay-Sachs gene. There is no treatment or cure for Tay-Sachs, which can only be prevented by genetic screening to identify carriers of the gene.
Angelman
Angelman Syndrome is a neurogenetic disorder characterized by delayed development, intellectual disability, impaired speech, movement problems, and seizures. It is caused by a deletion or mutation on chromosome 15 in 70% of cases. Symptoms include happy demeanor, laughter, hand-flapping, hyperactivity, and sleep issues. Treatment focuses on medication, therapy, and communication techniques due to significant speech limitations. The condition affects approximately 1 in 10,000 births.
Angelman Syndrome.
This document discusses Angelman syndrome, a genetic disorder characterized by developmental delays, lack of speech, seizures, and happy demeanor. It causes problems with physical and mental development due to a missing gene or chromosome abnormality. Treatments include physical therapy, communication therapy, behavior therapy, and anti-seizure medication to help manage symptoms.
Tay sachs disease
Tay-Sachs disease is caused by a lack of the hexosaminidase A enzyme, which helps break down gangliosides in nerve cells. This causes gangliosides like GM2 to accumulate in nerve cells, especially in the brain. It is inherited when both parents carry the defective gene, giving their child a 25% risk. Symptoms usually appear within the first 6 months of life and include blindness, loss of motor skills, and seizures. Children with Tay-Sachs disease sadly do not survive past age 4 or 5.
ANGELMAN SYNDROME
This case study describes a 7-year-old Hispanic female diagnosed with Angelman Syndrome. She was born with hypotonia and developmental delays. She was initially misdiagnosed with Prader-Willi Syndrome but was later correctly diagnosed with Angelman Syndrome after experiencing seizures at age 3. Angelman Syndrome is a genetic disorder caused by a deletion or mutation on chromosome 15. She exhibits many characteristics of the syndrome including severe intellectual and developmental disabilities, lack of speech, balance and coordination issues, and hyperactivity.
Session 21 progeria family circle ppt krakow +
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Angelman syndrome presentation By Angel Pantoja
Angelman Syndrome is a neuro-genetic disorder characterized by severe intellectual and developmental disability, seizures, jerky movements, frequent laughter or smiling, and usually a happy attitude. It is caused by deletion or corruption of a gene on chromosome 15 inherited from the mother. There is no standard treatment but therapy exists to treat behavioral issues and new drugs help control neurological and movement symptoms, while research studies folic acid and betaine.
Angelman syndrome
The document summarizes information about the UBE3A gene, which encodes an ubiquitin protein ligase. Mutations in this gene can cause Angelman syndrome, a neurodevelopmental disorder characterized by developmental delays, lack of speech, inability to walk, and frequent smiling and laughter. The document provides details on the gene's location, sequence, transcripts, SNPs, expression, and provides links to relevant databases.
Angelman syndrome
This document provides information about Angelman Syndrome, a rare genetic disorder caused by defects on chromosome 15. It affects 1 in 15,000 people and causes developmental delays, seizures, lack of speech, and frequent smiling/laughter. The disorder results from errors in genes on the maternal chromosome. Researchers are working to find treatments, with some success curing AS in mice. Foundations like FAST and ASF provide support for families and fund research seeking a cure. The document concludes with one family's story of receiving an AS diagnosis for their son Joey and their determination to help find a cure.
Lysosomes and peroxisomes
Lysosomes and peroxisomes are membrane-bound organelles that play important roles in cellular processes. Lysosomes contain digestive enzymes and function in intracellular digestion, breaking down materials through phagocytosis, autophagy, and programmed cell death. Peroxisomes contain enzymes involved in breaking down hydrogen peroxide and performing beta-oxidation of fatty acids. Both are formed by budding from the Golgi apparatus. Defects in the enzymes of lysosomes or peroxisomes can lead to metabolic storage disorders.
Angelman Syndrome: Kelsey Blackburn
Angelman syndrome is a genetic disorder characterized by developmental delay, neurological problems, and other symptoms like hyperactivity, seizures, sleep issues, frequent smiling and laughter, speech impairments, and balance problems. It is caused by absence of a gene inherited from the mother or inheritance of both copies of chromosome 15 from the father. While there is no cure, therapies can help manage symptoms. It is estimated about 1,000 cases occur annually in the US and Canada.
Marfan Syndrome
Marfan Syndrome is a connective tissue disorder that affects most organs and tissues, especially the lungs, eyes, and heart. It is caused by a defect in the gene that produces connective tissue and is inherited in an autosomal dominant pattern, meaning there is a 50% chance of passing it down to offspring. Symptoms include being unusually tall and thin with long limbs and fingers, as well as eye and heart problems. While there is no cure, treatment and surgery can help improve outcomes and lifespan. Famous Olympic swimmer Michael Phelps has Marfan Syndrome.
Niemann pick disease
Niemann-Pick disease is a rare genetic disorder caused by mutations in either the NPC1 or NPC2 gene that results in the abnormal accumulation of cholesterol and other lipids within cells. There are four variants of the disease (A, B, C1, C2) which are differentiated based on their genetic cause and clinical presentation. The majority of Type C1 cases are due to mutations in the NPC1 gene, while Type C2 results from mutations in the NPC2 gene. Both genes encode proteins that are involved in the intracellular transport of cholesterol, though their precise functions are still being investigated.
Niemann Pick Disease
This document presents two case reports of patients diagnosed with Niemann-Pick disease. The first case report describes a 19-month old child from Rajasthan who developed distension of the abdomen and loss of motor skills. Examination revealed enlarged liver and spleen, reduced hemoglobin, diminished reflexes and hypotonia. Further testing confirmed Niemann-Pick type A disease. The second case report describes an Afghan girl who was growing normally until age 1 but then developed hepatomegaly and developmental delays. Testing revealed she had Niemann-Pick disease type C. The document then provides background information on Niemann-Pick disease, describing it as a rare inherited lysosomal storage disorder caused by defects in sphingomy
Ehlers Danlos Syndrome
Ehlers Danlos Syndrome (EDS) is a genetic connective tissue disorder caused by defects in collagen. There are several types of EDS with varying symptoms. The hypermobility type involves loose joints and double-jointedness. Classical EDS affects the skin, causing easy bruising and scarring. The vascular type is the most severe and life-threatening due to risk of organ and blood vessel rupture. While there is no cure for EDS, physical therapy can help strengthen joints to prevent dislocation. Gene therapy may help EDS in the future by replacing or inactivating mutated genes.
Familial hypercholesterolemia
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by highly elevated cholesterol levels and premature cardiovascular disease. If left untreated, those with heterozygous FH typically develop heart disease before age 55-60, while homozygotes develop heart disease in early life and die before age 20. Treatment involves intensive lifestyle management and maximum statin therapy to lower cholesterol levels, with additional drugs like ezetimibe as needed. For severe cases, lipoprotein apheresis can help lower cholesterol. Children with FH should be screened between ages 2-10 and treated early with statins to prevent heart disease later in life.
Familial hypercholesterolaemia
This document discusses Familial Hypercholesterolaemia (FH), a common genetic condition characterized by abnormally high cholesterol levels. It notes that FH affects approximately 110,000 people in the UK, but less than 25% are currently diagnosed and treated. The document then provides details on the causes and inheritance of FH, clinical diagnosis criteria, prognosis if left untreated, and strategies for screening and managing FH patients and their families.
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Similar to Tay Sachs Disease
Tay Sachs
Tay Sachs disease is caused by a lack of enzymes needed to break down fatty proteins and waste in the brain. Babies with Tay Sachs are born without these enzymes, causing waste to build up and destroy brain tissue. Symptoms include blindness, deafness, muscle weakness, seizures, and a "cherry red" spot in the retina. It most often affects Ashkenazi Jewish infants in their first few months, and victims usually die by age 4 as there is currently no cure. Research continues to search for a cure for this fatal genetic disorder.
Progeriapp
Progeria is an extremely rare genetic condition where children age rapidly at a young age. It occurs in about 1 in 8 million children. Children with Progeria typically live into their teens, with the longest living to age 21. There are currently 82 children known to have Progeria. While it causes physical aging effects, intellectual abilities are unaffected in children with Progeria. Several organizations work to support children with Progeria and find a cure through medical research.
Autism
This document provides information about autism spectrum disorder, including signs, prevalence rates, potential causes, and research efforts. Some key points:
- Signs of autism can begin appearing between ages 2-3 and include lack of eye contact, difficulties socializing and communicating, and repetitive behaviors.
- Around 1 in 68 children in the US has been diagnosed with autism spectrum disorder. Boys are 4.5 times more likely to be diagnosed than girls.
- Genetic and environmental factors may increase risk, but vaccines are not a cause. Ongoing research is exploring genetic and environmental risk factors.
- Autism spectrum disorder covers a range of conditions involving difficulties with social skills and communication as well as repetitive behaviors
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Down syndrome
Down syndrome is a genetic condition caused by the presence of an extra chromosome 21. It occurs in three main forms: Trisomy 21 (95% of cases), where there are three copies of chromosome 21 instead of the typical two; mosaicism (1% of cases), where the extra chromosome is present in only some cells; and translocation (4% of cases), where part of chromosome 21 attaches to another chromosome, usually 14. The extra genetic material from chromosome 21 causes issues with brain and body development that result in both physical and mental symptoms that can range from mild to severe. While there is no cure, treatment focuses on managing symptoms through education, therapy, and surgery if needed to address health issues.
Down syndrome
Down syndrome is a genetic condition caused by the presence of an extra chromosome 21. It occurs in three main forms: Trisomy 21 (95% of cases), where there are three copies of chromosome 21 instead of the typical two; mosaicism (1% of cases), where some but not all cells have an extra chromosome 21; and translocation (4% of cases), where part of chromosome 21 breaks off and attaches to another chromosome. The extra genetic material from chromosome 21 causes issues with brain and body development that result in both physical and mental symptoms that can range from mild to severe. While there is no cure, treatment focuses on managing symptoms through education, therapy, and surgery if needed to address health issues.
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This document outlines an 11-module training series on autism spectrum disorders for adults. It defines autism as a brain-based developmental disorder that affects social interaction, communication, and behavior. The modules cover topics like characteristics, cognition, sensory differences, communication, behavior, leisure skills, adolescence and more. It describes the different types of autism spectrum disorders and their prevalence compared to other conditions. While autism affects everyone differently, improved diagnosis and awareness have led to higher rates.
A Parents Perspective
Matthew and Charlotte were born in the 1970s and 1980s in the UK. They both showed early signs of eye problems and other health issues but did not receive an accurate diagnosis of Alström Syndrome until their late teens. This rare disease affects multiple organs and was not well understood. After founding Alström Syndrome UK in 1998, the author was able to help increase awareness and care for the disease but both Matthew and Charlotte ultimately passed away in their 20s due to heart and organ failure complications of the syndrome. The author reflects on the challenges of caring for children with a rare disease with little support and hopes industry will become more involved in research to help change the natural course of similar conditions.
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Edward’s Syndrome: What if He Survives? discusses a 5.5-year-old boy with Edward's syndrome who has survived longer than most patients. It outlines the typical characteristics and prognosis of Edward's syndrome. While most patients die in infancy often due to cardiac or renal issues, this patient has no such problems. This raises questions about resuscitation and end-of-life care that should be discussed sensitively with the family.
Atypical Psych.-MariaThanos-Children w-Autism
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2) Signs and symptoms of autism are outlined, including issues with social skills, language, behavior, and sensory processing. Common comorbid conditions like ADHD and OCD are also noted.
3) Prevalence rates of autism are increasing, with current statistics of 1 in 88 children in the US being on the autism spectrum. Boys are much more likely to be diagnosed than girls.
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Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It can be diagnosed at birth based on physical characteristics
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defects, and a shorter average lifespan. Testing during pregnancy can indicate the likelihood of a child being born with Down syndrome.
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Waardenburg Syndrome
Waardenburg Syndrome is an inherited disorder characterized by hearing loss and changes in hair and skin pigmentation. There are four types, with types I and II being most common. It is caused by a dominant gene mutation and symptoms may include deafness, pale eye color, and patchy hair loss. While symptoms are present at birth, diagnosis is usually made in infancy through tests like audiometry and genetic testing. Treatment focuses on managing hearing loss and other symptoms, as there is no cure for the underlying condition.
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy is a disease that causes rapidly worsening muscle weakness due to a lack of the protein dystrophin. It is inherited through an X-linked recessive gene, so it primarily affects boys. Symptoms begin in the legs and include fatigue, difficulty walking, and muscle weakness that gets worse over time and spreads to other muscles. There is no cure, and those affected often require use of a wheelchair by their early teens and don't survive past late teens or early adulthood.
Sickle Cell Anemia
Sickle cell anemia is a genetic blood disorder where red blood cells become stiff and sickle-shaped, blocking blood flow and damaging organs. It occurs when someone inherits two sickle cell genes, one from each parent. People with one sickle cell gene have sickle cell trait and do not have the disease but can pass the gene to their children. More than 70,000 Americans have sickle cell anemia and about 2 million have sickle cell trait. It is particularly common among African Americans, affecting about 1 in 12.
Williams Syndrome
Williams Syndrome is a rare genetic condition present at birth that affects physical features and development. It occurs in about 1 in 20,000 births due to a random genetic mutation. Common characteristics include heart defects, learning disabilities, an overly friendly demeanor, and narrow blood vessels. There is no cure for Williams Syndrome, but symptoms can be managed through careful medical care and avoiding excess calcium and vitamin D. The condition varies in severity and some cases, like that of Cody described, require multiple heart surgeries while allowing the person to live with milder ongoing effects of the syndrome.
Fibrodysplasia Ossifcans Progressiva
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder where muscle and connective tissue is gradually replaced by bone. It causes joints to become permanently frozen in place. While extra bone growth can be surgically removed, it will regrow. FOP is caused by a mutation that is inherited and passed down generations. Symptoms at birth may include great toes that are missing joints or have lumps. As the condition progresses, lumps and tumors develop on bones throughout the body. Currently there is no cure for FOP, and avoiding injury can help limit extra bone growth.
Hemophilia
Hemophilia is a disease where the blood is too thin and cannot clot properly, causing prolonged bleeding from cuts or injuries. It is inherited through family lines and is more common in males. Symptoms include bleeding that does not stop as it normally would. Diagnosis involves testing by a doctor if bleeding issues are noticed or if there is a family history of hemophilia. It affects around 18,000 people in the United States and is treated by replacing the missing clotting factors through intravenous injections.
Huntington's Disease
Huntington's disease is a genetic disorder that causes certain nerve cells in the brain to break down over time. It is inherited in an autosomal dominant pattern, meaning only one parent needs to carry the gene for a child to be at risk. Common symptoms include behavioral changes, abnormal movements, dementia, and difficulty swallowing and speaking. While there is no cure, lifestyle interventions including diet, supplements, exercise and social support can help manage symptoms and potentially delay onset. The disease is caused by destruction of cells in the basal ganglia and approximately 1 in 33,333 people in the US are affected.
Achondroplasia
Achondroplasia is a genetic bone disorder that causes dwarfism. It results from a mutation affecting the formation of cartilage and bone and is characterized by short stature and limb abnormalities. Achondroplasia is inherited in an autosomal dominant pattern, but 80% of cases result from new mutations. It occurs in approximately 1 in 25,000 live births. While there is no cure for achondroplasia, limb lengthening surgery can help increase height in some patients.
Werners Syndrome
Werner syndrome is a rare genetic disorder characterized by premature aging symptoms beginning in early adulthood such as graying hair, a thin body build, and bird-like facial features. It is caused by mutations in the WRN gene and inherited in an autosomal recessive pattern. People with Werner syndrome typically die of heart disease or cancer in their late 40s or early 50s as their bodies age at an accelerated rate. There is no cure for Werner syndrome, but managing health conditions like diabetes and monitoring cholesterol levels is recommended.
Williams Syndrome
Williams Syndrome is a rare genetic disorder caused by a deletion of genes on chromosome 7, resulting in physical, cognitive, and behavioral effects including distinctive facial features, learning difficulties, and anxiety. It is not typically inherited but occurs randomly during reproduction. While there is no cure, treatment may include physical, speech, and occupational therapy as well as managing blood pressure and calcium levels.
Achondroplasia
Achondroplasia is a genetic condition that results in abnormally short limbs and an enlarged head. It is caused by mutations in the FGFR3 gene. Symptoms include bowed legs, prominent forehead, and abnormal finger spacing. While there is no cure, treatment focuses on supportive care and monitoring for potential spinal issues. The condition can be diagnosed before or after birth based on physical features and imaging tests.
Werners Syndrome
Werner syndrome is a rare genetic disorder that causes accelerated aging beginning in early adulthood. It is caused by mutations in the WRN gene and is inherited in an autosomal recessive pattern. Physical symptoms include short stature, gray hair, cataracts, skin aging, and increased risk of cancers and heart disease. There is no treatment to stop or reverse the effects of Werner syndrome, but symptoms can be managed.
Fibrodysplasia Ossifican Progressiva
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder where muscle tissue and connective tissue are gradually replaced by bone. It is caused by a mutation in the body's repair mechanism, causing extra bone to form following injuries. There is no treatment for FOP, and surgery can make it worse by triggering more bone growth. Most cases are caused by spontaneous genetic mutations, and those affected have very limited mobility as the condition progresses and more joints become frozen in place by extra bone formation.
Sickle Cell
Sickle cell disease is an inherited blood disorder where red blood cells become misshapen and crescent-shaped. It causes episodes of pain and other symptoms like fatigue and jaundice. While there is no cure, treatment with medication can help manage symptoms though the disease remains. It is most common among those with ancestry from sub-Saharan Africa, South and Central America, Caribbean countries, and Mediterranean countries.
Hemophilia
Hemophilia is a rare inherited blood clotting disorder caused by deficient blood proteins. It is passed down from mother to son through genes on the X chromosome. Symptoms include prolonged bleeding from cuts or wounds and internal bleeding in joints that can lead to arthritis if untreated. Physicians test for hemophilia by ruling out other disorders and determining which clotting factor is deficient. About 1 in 4,000 males have the disorder. Treatment involves regularly injecting purified clotting factors to prevent or stop bleeding episodes.
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Tay Sachs Disease
- 1. Tay-Sachs Disease By: Adam BeaverBecca Carr
- 2. Tay-Sachs Disease Tay-Sachs disease is a disorder where harmful amounts of fat substances build up in nerve cells and tissue.
- 3. Inheritance Tay-Sachs disease affects someone who inherits two copies of an altered gene from their carrier parents Carrier parents have a one in four chance of having an affected child, a one in two chance of having a child who is unaffected, and a one in four chance of having a child who doesn’t carry any of these altered genes.
- 4. Symptoms Seizures Behavior changes in infants, such as they stop smiling, crawling and rolling over and loses the ability to grasp and reach out Startle reaction increases Lose eye contact Lose the ability to listen Slow body growth with increasing head size Delayed mental and social skills
- 5. How is the disease tested for? A simple blood test can determine the difference between Tay -Sachs carriers from non-carriers. A blood test is usually done from a vein or from the umbilical cord right after birth.
- 6. Occurrence of disease Each year there are about 16 cases of Tay-Sachs disease diagnosed. In the general population, 1 in 250 people have Tay-Sachs. Getting this genetic trait is relatively common among certain ethnic groups, such as Ashkenazi Jews.
- 7. Treatment As of now, there is now known treatment. Some supportive treatments may include proper nutrition and hydration along with Anticonvulsant medicine to help control seizures. Children may eventually need a breathing tube because its important to keep the air way open.
- 8. Interesting Info Most children with Tay-Sachs disease only live to the age of five. Symptoms usually appear before the age of six months. The disease is named after British Ophthalmologist Warren Tay and the American neurologist Bernard Sachs.
- 9. Dj When Dj was 18 months old he was diagnosed with the disease. At 10 months old his parents started noticing a potential problem, Dj couldn’t support his own weight. By the time he was 16 months his motor skills got to the point were he could no longer go unassisted. When he was 18 months, doctors noticed “red cherry spots” in the back of his eyes. In 1998 they came to the conclusion that Dj had Tay-Sachs disease and his parents were both carriers. He is now three and a half years old.
- 10. Work Cited http://www.djhomepage.com/ http://www.ninds.nih.gov/disorder/taysachs/taysachs.htm http://www.mazomet.com/genetics/tay-sachs.htm http://children.webmd.com/tay-sachs-test