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Medindia » Health / Medical News » Von Hippel-Lindau Disease / Rare Genetic Disorder News

Von Hippel-Lindau Disease / Rare Genetic Disorder - Latest News and Research Updates

Health News Posted on February 1, 2023

Total News and Breakthroughs - Von Hippel-Lindau Disease / Rare Genetic Disorder - 214 / Page - 1 of 15

Keep abreast with the latest news related to Von Hippel-Lindau Disease / Rare Genetic Disorder there are 214 news items on Von Hippel-Lindau Disease / Rare Genetic Disorder that covers updates, breakthroughs and in-depth reports.

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Von Hippel-Lindau Disease / Rare Genetic Disorder

Von Hippel-Lindau Disease (VHL) or Von Hippel-Lindau Syndrome is a rare genetic disorder caused by a mutation in the VHL gene. It is characterized by the development of benign tumors and cysts in multiple organs.

Overview | Causes | Symptoms & Signs | Diagnosis | Treatment | Prognosis

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Gene Mutation Leading to Autism Found to Over Stimulate Brain Cells: Study

Gene Mutation Leading to Autism Found to Over Stimulate Brain Cells: Study

In mouse brains, R451C mutation in neurologin-3 gene (known to cause autism) provoked a higher level of communication among a network of transplanted human brain cells. This over excitation, quantified in experiments by the scientists, ...

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How do Pancreatic Cysts Progress to Pancreatic Cancer

How do Pancreatic Cysts Progress to Pancreatic Cancer

The comprehensive immune landscape and microbiome of pancreatic cysts outlined shows how they progress from benign cysts to pancreatic cancer. Pancreatic cysts have gained substantial attention in recent years because they represent one of ...

Clock Gene Mutation Linked to Autism Development

Clock Gene Mutation Linked to Autism Development

The disruption of a circadian clock gene is associated with the development of autism spectrum disorder, revealed a team of scientists from the University of Minnesota Medical School, University of Texas Health San Antonio, and the Biomedical ...

Gene Mutation for Preeclampsia Identified

Gene Mutation for Preeclampsia Identified

Mutations in a single gene, called GSNOR lead to many complications linked to preeclampsia. Preeclampsia is a life-threatening condition affecting pregnant women. These findings could lead to new diagnostics and treatments, as well as ...

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Repurposed Amyotrophic Lateral Sclerosis (ALS) Drug Against Rare Genetic Disorder

Repurposed Amyotrophic Lateral Sclerosis (ALS) Drug Against Rare Genetic Disorder

Riluzole, a repurposed ALS (amyotrophic lateral sclerosis) drug may help slow down a rare genetic disorder called Niemann-Pick disease type C1 (NPC1 – characterized by the gradual loss of a particular brain cell) in children and adolescents, as per ...

Gene Mutation Boosts Cancer Risk

Gene Mutation Boosts Cancer Risk

A common genetic mutation robs people of natural cancer protection, said University of Virginia School of Medicine researchers. Hao Jiang, PhD, of UVA Cancer Center, and his collaborators have revealed why a mutation in the UTX gene ...

Gene Mutation Among Schizophrenia Patients Characterized

Gene Mutation Among Schizophrenia Patients Characterized

Schizophrenia is a chronic brain disorder that affects a person’s ability to think, feel and behave clearly. Previous studies have detected a significant decrease in neurotransmitter release among patients with this disorder. A new study has now ...

FDA Approves the First Drug to Treat an Rare Genetic Disorder Which Causes Kidney Stones

FDA Approves the First Drug to Treat an Rare Genetic Disorder Which Causes Kidney Stones

The US Food And Drug Administration (FDA) has approved lumasiran subcutaneous injection to treat adults and children with primary hyperoxaluria type 1 (PH1) - an ultra- rare genetic disorder. PH1 causes recurrent kidney stones and loss of kidney ...

Delhi Hospital First to Clear A Cyst Without Surgery

Delhi Hospital First to Clear A Cyst Without Surgery

Hydatid cyst equivalent to the size of a tennis ball was removed from the right lung of a 45-year-old woman using a cryoprobe, without conducting an open chest surgery in India. Cryoprobe is a surgical probe used to apply extreme cold to body ...

Novel Gene Mutation Identified in Generalized Lymph Node Swelling

Novel Gene Mutation Identified in Generalized Lymph Node Swelling

Mutations in a novel gene, ANGPT2, that is responsible for primary lymphedema, has been identified. These mutations could lead to the dysfunction of ANGPT2 protein that otherwise helps in lymphatic and blood vessel maturation. "The mutations ...

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New Treatment Benefits Patients With Rare Genetic Disorder

New Treatment Benefits Patients With Rare Genetic Disorder

In patients with a rare and aggressive form of leukodystrophy, a class of targeted therapy drugs could help improve their neurological function, revealed new findings published today in the New England Journal of Medicine. ...

Virtual Biopsy Diagnoses Precancerous Pancreatic Cysts Accurately

Virtual Biopsy Diagnoses Precancerous Pancreatic Cysts Accurately

Virtual biopsy diagnoses cysts in the pancreas with unprecedented accuracy definitively. This means they can eliminate precancerous cysts and potentially save lives. The current standard involves testing the fluid inside the cysts. It correctly ...

Link Between Gene Mutation Combo and Endometrial Cancer

Link Between Gene Mutation Combo and Endometrial Cancer

A combination of two genetic mutations is associated with endometrial cancer has been discovered Michigan State University researchers, in collaboration with the Van Andel Institute. "More than 63,000 women are likely to be diagnosed with ...

Larotrectinib Drug Approved For Treatment Of Cancers With Specific Gene Mutation Approved

Larotrectinib Drug Approved For Treatment Of Cancers With Specific Gene Mutation Approved

Treating patients with Vitrakvi (larotrectinib) is recommended for patients whose disease has spread or cannot be surgically removed, and who have no other satisfactory treatment options, stated new study. Vitrakvi is the first ...

Test Using AI Tools can Accurately Identify Precancerous Pancreatic Cysts

Test Using AI Tools can Accurately Identify Precancerous Pancreatic Cysts

A laboratory test using artificial intelligence tools has the potential to more accurately sort out people with pancreatic cysts who will probably develop pancreatic cancers in the future. The test, dubbed CompCyst (for comprehensive cyst ...

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