Rare Genetic Diseases
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Prince Frederik Of Luxembourg's Final Act Of Bravery Before Death At 22
Prince Frederik of Luxembourg was diagnosed with POLG mitochondrial disease, a rare genetic disorder affecting approximately one in 5,000 people, at the age of 14.
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Luxembourg's Prince Frederik Dies Aged 22 From Rare Genetic Disease
Prince Frederik, the youngest child of Prince Robert of Luxembourg and Princess Julie of Nassau, died from a rare genetic condition.
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Neanderthal Blood Protein Incompatibilities May Have Contributed to Extinction
Research indicates that genetic differences in Neanderthal blood proteins may have played a role in their extinction. Scientists discovered that Neanderthals had a rare RhD blood type, which was incompatible with the blood types of Denisovans and Homo sapiens. This incompatibility could have led to hemolytic disease in mixed-species offspring, resu...
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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.
-
Prince Frederik Of Luxembourg's Final Act Of Bravery Before Death At 22
Prince Frederik of Luxembourg was diagnosed with POLG mitochondrial disease, a rare genetic disorder affecting approximately one in 5,000 people, at the age of 14.
-
Luxembourg's Prince Frederik Dies Aged 22 From Rare Genetic Disease
Prince Frederik, the youngest child of Prince Robert of Luxembourg and Princess Julie of Nassau, died from a rare genetic condition.
-
Neanderthal Blood Protein Incompatibilities May Have Contributed to Extinction
Research indicates that genetic differences in Neanderthal blood proteins may have played a role in their extinction. Scientists discovered that Neanderthals had a rare RhD blood type, which was incompatible with the blood types of Denisovans and Homo sapiens. This incompatibility could have led to hemolytic disease in mixed-species offspring, resu...
-
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.
