Rare Genetic Diseases

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

"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.

The doctors informed the couple that Poppy had pneumonia in her lungs and also tested positive for a respiratory infection.

The teenager, Olivia Farnsworth, has a rare chromosome condition known as chromosome 6 deletion, which does not make her feel pain, hunger or fatigue.

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.

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.

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.

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...

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.

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.

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

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 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: 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.

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...

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

"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.

The doctors informed the couple that Poppy had pneumonia in her lungs and also tested positive for a respiratory infection.

The teenager, Olivia Farnsworth, has a rare chromosome condition known as chromosome 6 deletion, which does not make her feel pain, hunger or fatigue.

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.

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.

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.

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...

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.

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.

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

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 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: 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.

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...