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Topic Review
Pachyonychia Congenita
Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life.
  • 1.0K
  • 24 Dec 2020
Topic Review
Dentinogenesis Imperfecta
Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.teeth.
  • 1.0K
  • 24 Dec 2020
Topic Review
Schizoaffective Disorder
Schizoaffective disorder is a mental health condition that includes features of both schizophrenia and a mood disorder such as bipolar disorder or depression.
  • 1.0K
  • 24 Dec 2020
Topic Review
Factor VII Deficiency
Factor VII deficiency is a rare bleeding disorder that varies in severity among affected individuals.
  • 1.0K
  • 25 Dec 2020
Topic Review
LPL Gene
Lipoprotein lipase
  • 1.0K
  • 04 Jan 2021
Topic Review
GCK Gene
Glucokinase
  • 1.0K
  • 25 Dec 2020
Topic Review
Spondyloenchondrodysplasia with Immune Dysregulation
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence.  
  • 1.0K
  • 23 Dec 2020
Topic Review
NCF1 Gene
neutrophil cytosolic factor 1
  • 1.0K
  • 23 Dec 2020
Topic Review
Pendred Syndrome
Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter.
  • 1.0K
  • 24 Dec 2020
Topic Review
OPRM1 Gene
opioid receptor mu 1
  • 1.0K
  • 24 Dec 2020
Topic Review
CF aerosol related cellular models
The respiratory epithelium can be affected by many diseases that could be treated using aerosol gene therapy. Among these, cystic fibrosis (CF) is a lethal inherited disease characterized by airways complications, which determine the life expectancy and the effectiveness of aerosolized treatments. Beside evaluations performed under in vivo settings, cell culture models mimicking in vivo pathophysiological conditions can provide complementary insights into the potential of gene transfer strategies. Such models must consider multiple parameters, following the rationale that proper gene transfer evaluations depend on whether they are performed under experimental conditions close to pathophysiological settings. In addition, the mucus layer, which covers the epithelial cells, constitutes a physical barrier for gene delivery, especially in diseases such as CF. Artificial mucus models featuring physical and biological properties similar to CF mucus allow determining the ability of gene transfer systems to effectively reach the underlying epithelium.
  • 1.0K
  • 14 Jan 2021
Topic Review
Glucose-Galactose Malabsorption
Glucose-galactose malabsorption is a condition in which the body cannot take in (absorb) the sugars glucose and galactose, which primarily results in severe diarrhea.
  • 1.0K
  • 23 Dec 2020
Topic Review
Hemophilia
Hemophilia is a bleeding disorder that slows the blood clotting process.
  • 1.0K
  • 23 Dec 2020
Topic Review
Epidermolytic Hyperkeratosis
Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).
  • 1.0K
  • 25 Dec 2020
Topic Review
Fukuyama Congenital Muscular Dystrophy
Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life.
  • 1.0K
  • 24 Dec 2020
Topic Review
HMERF
Hereditary myopathy with early respiratory failure (HMERF) is an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are needed for breathing (respiratory muscles).
  • 1.0K
  • 23 Dec 2020
Topic Review
2q37 Deletion Syndrome
2q37 deletion syndrome is a condition that can affect many parts of the body. Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. Other neurological abnormalities that are common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting and walking; and behavioral problems. About 25 percent of people with this condition have autism spectrum disorder, a developmental condition that affects communication and social interaction.
  • 1.0K
  • 23 Dec 2020
Topic Review
G6PD Gene
Glucose-6-phosphate dehydrogenase
  • 1.0K
  • 25 Dec 2020
Topic Review
Congenital Sucrase-Isomaltase Deficiency
Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose.
  • 1.0K
  • 24 Dec 2020
Topic Review
ATP7B Gene
ATPase copper transporting beta
  • 1.0K
  • 24 Dec 2020
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