Achondroplasia is the most common type of dwarfism and affects about one in every 25,000 to 30,000 newborns. Dwarfism is often caused by a change in specific genes that affects bone and cartilage ...

Abstract: Understanding the underlying etiologies of rare diseases may facilitate research across multiple conditions, enabling basket trail design and drug repurposing. In this study, we aligned ...

Dercum's disease is an extremely rare disorder. People with it have many painful, fatty lumps that grow just below their skin. There’s no cure yet, but some treatments can ease the symptoms. Your ...

ABSTRACT: Background: This case report presents a case of bilateral Thiel-Behnke corneal dystrophy in Denmark. Thiel-Behnke is an autosomal dominant inherited epithelial-stromal TGFBI dystrophy ...

A rare disease, as defined by Orphanet, is a condition that affects less than 1 in 2,000 people, and NICE considers diseases that affect less than 1 in 50,000 people to be ultra rare. Rare diseases ...

This rare condition can’t be cured, but its symptoms can be treated. Take this assessment to learn what more you can do to manage the condition. Before you were diagnosed with transthyretin ...

Neuroleptic malignant syndrome (NMS) is a rare reaction to antipsychotic drugs that are used to treat schizophrenia, bipolar disorder, and other mental health conditions. It affects the nervous system ...

This EEG pipeline is made to analyze data collected with a biosemi system, using however many channels you want. There are several cleaning steps (e.g. channel rejection, ICA, epoch rejection) after ...

Cystic fibrosis (CF) is a serious genetic condition that causes severe damage to the respiratory and digestive systems. This damage often results from a buildup of thick, sticky mucus in the organs.

ABSTRACT: Background: Worldwide thalassemia poses a serious public health problem due to the high prevalence. Globally, 15 million people are suffering from clinically thalassemic disorders. Objective ...