Tags Genetic disease

Tag: genetic disease

Delving genetics in nephrology: heredity unhinges while diet could rescue?

About 12.5 million people worldwide have autosomal dominant polycystic kidney disease (PKD), a condition caused by mutations in one of two genes, PKD1 or...

SickLE news: will the new drug open a new bloody hope?

Sickle cell disease is a group of inherited disorders that affect red blood cells. Healthy red blood cells are flexible discs. In people with...

Amondys 45: the new genedrug for Duchenne muscular dystrophy gains approval

Duchenne muscular dystrophy (DMD) is a rare genetic disorder characterized by progressive muscle deterioration and weakness. It is the most common type of muscular...

Motoneuron disease hunt: we’ll run you down 24/7 until we’ll get the perfect bullet

ALS is a neurodegenerative disease which affects motor neurons and the neuronal links between our brain and our muscles. Over the course of the...

Evrysdi: the first SMA-treating drug that can be taken by mouth is approved

Spinal muscular atrophy (SMA) is a hereditary disease that causes weakness and muscle wasting because patients lose lower motor neurons (nerve cells) that control...

Targeting drive-through proteins for docking guests: a new hope for cystic fibrosis

Cystic fibrosis, one of the most common genetic diseases, causes severe respiratory and digestive disorders. Cystic fibrosis, affecting more than 700,000 people worldwide, is...

Genetic nephropathy in children: KIDney gene tells why he gets “on steroids”

Childhood nephrotic syndrome is the most common chronic kidney disease affecting children; in Japan it occurs at a yearly rate of 6.49 children out...

Lesch-Nyan gets nucleo-tide: too musch folate in culture has simply hidden the understanding beneath

Lesch-Nyhan is a rare genetic neurological disease, affecting 1 in 380,000 newborns. Patients suffer from overproduction of uric acid, anemia, severe neurological problems, and...

Disease-modifying aminoacids: arginine in the spotlight for genetic ataxias

Familial spinocerebellar ataxia (SCA), Huntington disease, and spinal and bulbar muscular atrophy are inherited neurodegenerative diseases. Because of their similar molecular pathogenesis, they are...

Friedreich ataxia: from the mechanisms to a cure, the limit is the knowledge

Friedreich's ataxia is a genetic a neurodegenerative disease that leaves its victims with difficulty walking, a loss of sensation in the arms and legs...

ALS gene therapy: viral vector trying to SOD 1 right message to motorneurons

Lou Gehrig’s disease, or amyotrophic lateral sclerosis (ALS) hits over 5000 Americans each year, and about 30,000 people in the US have this disease...

Genetic ataxia: SCAvenging the mutation is far, better to SirTwining with “energy”

Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder that causes progressive problems with vision, movement, and balance. Individuals with SCA7 have CAG-polyglutamine...

Eye disease like chips dialogue: RAM stays on the core, ROM looks peripherin’

Two diagnoses you never want to hear from the eye doctor are macular degeneration and retinitis pigmentosa. Both are genetic disorders that can cause...

Hereditary spastic paraplegia: membrane lipid synthesis in the brain as next causal “new entry”

Hereditary spastic paraplegias (HSP) is a general term for a group of hereditary degenerative neurological disorders that affect the upper spinal motor neurons, leading...

X-files unfolded: molecular strategies to get the chromosome back to work

Rett syndrome is usually not diagnosed until the characteristic difficulties set in in childhood. People with Rett syndrome typically will experience difficulty to perform...

Most Read