Rare Genetic Diseases
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We Can No Longer Afford To Be Unaware Of Genetic Diseases: Chief Justice
Chief Justice of India DY Chandrachud on Saturday emphasised on the need to create awareness about rare diseases among the society, on being empathetic and supportive to such parents and their families regardless of cultural, religious or traditional
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Explained: What Is Childhood Dementia And How It Affects Children
"Childhood" and "dementia" are two words we wish we didnt have to use together. But sadly, around1,400 Australian children and young people live with currently untreatable childhood dementia.
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Couple's Daughter Dies From Rare Disease, Then They Made Her Into Stones
The doctors informed the couple that Poppy had pneumonia in her lungs and also tested positive for a respiratory infection.
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Meet "Bionic Teen" From UK Who Feels No Pain, Hunger Or Fatigue Due To Rare Disorder
The teenager, Olivia Farnsworth, has a rare chromosome condition known as chromosome 6 deletion, which does not make her feel pain, hunger or fatigue.
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US Woman With Rare Heart Condition Says "I Run On Batteries"
A 30-year-old woman from Massachusetts, grappling with a rare genetic condition, is being sustained by a mechanical implant while she anxiously awaits a suitable donor to provide her with a new heart.
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Scientists Identify 4 New Genes Linked With Breast Cancer, Most Variants Rare
Four new genes associated with breast cancer that may help identify women increased risk of the disease have been identified. However, these only explain a minority of the genetic risk.
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India, Israel, US Aim To Develop Drug To Treat This Rare Disease: Report
Researchers at the Indian Institute of Technology (IIT), Madras, Tel Aviv University and Columbia University are studying a rare genetic brain disease called "GNB1 Encephalopathy" and trying to develop a drug to treat it effectively.
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New Research Suggests Gene Therapy Could Be Used To Treat Pitt-Hopkins Syndrome
Postnatal gene therapy may be able to prevent or repair many of the harmful effects of Pitt-Hopkins syndrome, a rare genetic condition, according to researchers at the University of North Carolina School of Medicine. In an animal model of Pitt-Hopkins syndrome, researchers discovered that restoring lost gene activity eliminates numerous clinical in...
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Karnataka Infant Among 14 In World With Rare Genetic Disorder BENTA
A seven-month-old baby from Bengaluru has been diagnosed with the 'BENTA' disease, an extremely rare primary immunodeficiency disorder, that is said to have affected only 13 others in the world.
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A Dad Races To Make Medicine For His Dying Son, Just Two Years Old
Two-year-old Haoyang has likely just months to live -- but the only medicine that can help his rare genetic condition is not found anywhere in China and closed borders due to the Covid-19 pandemic mean he cannot travel for treatment.
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23 MPs Meet Health Minister Over Treatment To Patients With Rare Genetic Conditions
A group of 23 Rajya Sabha MPs met Union Health and Family Welfare Minister Mansukh Mandaviya and sought his ministry's immediate intervention to provide treatment to the eligible patients diagnosed with rare genetic conditions, a statement said on W
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People Raise Rs 18 Crore To Save Kerala Child From Rare Disease
In a display of human kindness for a cause of serious concern, Rs 18 crore was raised in Kerala through crowdfunding in seven days for an 18-month-old child suffering from a rare genetic disorder called spinal muscular atrophy.
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In First-Of-Its-Kind Case, Newborn With 2 Rare Genetic Diseases In Jaipur
In what doctors said is probably a first-of-its-kind case in the world, a newborn has been diagnosed with two rare genetic diseases at a government hospital in Jaipur.
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World Hemophilia Day 2020: Causes And Symptoms Of The Disease In Which Blood Does Not Clot Normally
World Hemophilia Day: Hemophilia is a rare disease in which the blood does not clot normally because of lacking sufficient blood clotting proteins. Read here to know common causes and symptoms of this condition.
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Rare Skin Disease Left Him Isolated. Surgery Gave Him Back His Life
When Enrique Galvan was growing up in Paraguay, other children called him a monster. When he was a toddler, a rare genetic disorder called neurofibromatosis was diagnosed, and it caused benign tumors to form on his nerve tissue and create what appeared to be pieces of extra skin drooping from his head, neck and face. It wasn't until he was old enou...
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We Can No Longer Afford To Be Unaware Of Genetic Diseases: Chief Justice
Chief Justice of India DY Chandrachud on Saturday emphasised on the need to create awareness about rare diseases among the society, on being empathetic and supportive to such parents and their families regardless of cultural, religious or traditional
-
Explained: What Is Childhood Dementia And How It Affects Children
"Childhood" and "dementia" are two words we wish we didnt have to use together. But sadly, around1,400 Australian children and young people live with currently untreatable childhood dementia.
-
Couple's Daughter Dies From Rare Disease, Then They Made Her Into Stones
The doctors informed the couple that Poppy had pneumonia in her lungs and also tested positive for a respiratory infection.
-
Meet "Bionic Teen" From UK Who Feels No Pain, Hunger Or Fatigue Due To Rare Disorder
The teenager, Olivia Farnsworth, has a rare chromosome condition known as chromosome 6 deletion, which does not make her feel pain, hunger or fatigue.
-
US Woman With Rare Heart Condition Says "I Run On Batteries"
A 30-year-old woman from Massachusetts, grappling with a rare genetic condition, is being sustained by a mechanical implant while she anxiously awaits a suitable donor to provide her with a new heart.
-
Scientists Identify 4 New Genes Linked With Breast Cancer, Most Variants Rare
Four new genes associated with breast cancer that may help identify women increased risk of the disease have been identified. However, these only explain a minority of the genetic risk.
-
India, Israel, US Aim To Develop Drug To Treat This Rare Disease: Report
Researchers at the Indian Institute of Technology (IIT), Madras, Tel Aviv University and Columbia University are studying a rare genetic brain disease called "GNB1 Encephalopathy" and trying to develop a drug to treat it effectively.
-
New Research Suggests Gene Therapy Could Be Used To Treat Pitt-Hopkins Syndrome
Postnatal gene therapy may be able to prevent or repair many of the harmful effects of Pitt-Hopkins syndrome, a rare genetic condition, according to researchers at the University of North Carolina School of Medicine. In an animal model of Pitt-Hopkins syndrome, researchers discovered that restoring lost gene activity eliminates numerous clinical in...
-
Karnataka Infant Among 14 In World With Rare Genetic Disorder BENTA
A seven-month-old baby from Bengaluru has been diagnosed with the 'BENTA' disease, an extremely rare primary immunodeficiency disorder, that is said to have affected only 13 others in the world.
-
A Dad Races To Make Medicine For His Dying Son, Just Two Years Old
Two-year-old Haoyang has likely just months to live -- but the only medicine that can help his rare genetic condition is not found anywhere in China and closed borders due to the Covid-19 pandemic mean he cannot travel for treatment.
-
23 MPs Meet Health Minister Over Treatment To Patients With Rare Genetic Conditions
A group of 23 Rajya Sabha MPs met Union Health and Family Welfare Minister Mansukh Mandaviya and sought his ministry's immediate intervention to provide treatment to the eligible patients diagnosed with rare genetic conditions, a statement said on W
-
People Raise Rs 18 Crore To Save Kerala Child From Rare Disease
In a display of human kindness for a cause of serious concern, Rs 18 crore was raised in Kerala through crowdfunding in seven days for an 18-month-old child suffering from a rare genetic disorder called spinal muscular atrophy.
-
In First-Of-Its-Kind Case, Newborn With 2 Rare Genetic Diseases In Jaipur
In what doctors said is probably a first-of-its-kind case in the world, a newborn has been diagnosed with two rare genetic diseases at a government hospital in Jaipur.
-
World Hemophilia Day 2020: Causes And Symptoms Of The Disease In Which Blood Does Not Clot Normally
World Hemophilia Day: Hemophilia is a rare disease in which the blood does not clot normally because of lacking sufficient blood clotting proteins. Read here to know common causes and symptoms of this condition.
-
Rare Skin Disease Left Him Isolated. Surgery Gave Him Back His Life
When Enrique Galvan was growing up in Paraguay, other children called him a monster. When he was a toddler, a rare genetic disorder called neurofibromatosis was diagnosed, and it caused benign tumors to form on his nerve tissue and create what appeared to be pieces of extra skin drooping from his head, neck and face. It wasn't until he was old enou...
