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This article provides basic information on Krabbe disease.

DravetSyndrome (DS) is classified as a very rare genetic condition. It was first described in the literature in the 1970s. What are the symptoms of the disease and prognosis?

SA - or spinal muscular atrophy - is a severe genetic disease that results in the death of neurons in the spinal cord. Problems with the normal functioning of the nervous system resulting in a lack...

Proteus Syndrome is one of the extremely rare genetically determined diseases. The disease was described in the 1980s. What do we know about it?

Subacute necrotising encephalomyelopathy is categorised as a rare genetic disease that results in gradual degeneration of the central nervous system. The first symptoms appear as early as early...

Are some of us more susceptible to contracting COVID-19 simply because they have genes whose altered expression makes them more easily ill? Or are genes responsible for some nations being worse at...

Genetic diseases can affect one gene as well as multiple genes. Some of the diseases can be chromosomally linked, such as Pelizaeus-Merzbacher Disease. What are the symptoms of the disease? What are...

Genetic diseases, especially those that occur very rarely, are incurable and scientists often do not know what causes them. Canavan's disease is a very rare genetic disease that significantly reduces...

Tay-Sach disease is very rare and is caused by genetic mutations that result in the accumulation of ganglioside GM2 in nerve cells. Can the disease be cured? How to live with it?

Glutaric acidosis is an inherited disease that results in problems with the normal functioning of proteins in the body. What can the condition lead to?

Leigh syndrome is classed as a genetic, mitochondrial disease, meaning that the disease-causing mutation has occurred in the mitochondrion. What causes genetic changes? How is Leigh syndrome treated?

Alexander's disease is a very rare genetic disease that is responsible for damage to the central nervous system. The neurodegenerative disease destroys glial proteins and leads to a progressive...

Gaucher's disease is classified as a rare disease, leading to problems with the liver, spleen but also the nervous system. Can Gaucher disease be cured? What is the prognosis?

Genotoxicity is a scary sounding term that evokes negative associations. Is there anything to fear? What is genotoxicity and why is it being studied?

Charcot disease (actually: Charcot-Marie-Tooth disease) is categorised as an inherited motor-sensory neuropathy. What are the symptoms of the disease? Is a complete cure possible?

Infertility is a condition in which a woman does not get pregnant after a year of regular sexual intercourse with an average frequency of 3-4 intercourses per week without using any methods of...

Hypertelorism is a medical condition characterised by an increase in the distance between two paired organs above the average norm. Most cases are described when the distance between the eye sockets...

Progeria - a genetic disease that affects just over a hundred people worldwide. What causes it? What is the prognosis for patients?

Cri du chat syndrome, known as cat meow syndrome, is a genetic disease caused by a mutation in chromosome five. What are the characteristics of the disease and what is the prognosis of patients...

Duchenne muscular dystrophy is a recessively inherited disease linked to the X chromosome. It therefore affects the vast majority of boys, with occasional cases in girls, such as those with Turner...

Charge syndrome is categorised as a rare genetic disease that is caused by a mutation in the CDH7 gene. In Europe, an estimated one in a hundred thousand healthy babies is born with Charge syndrome.

Wolfram synd rome is a genetic disorder that is categorised as a neurodegenerative disease. The disease affects the nervous system, resulting in a number of disorders from which patients suffer.

Stickler synd rome is a genetic disorder that causes abnormalities in the synthesis of collagen. Collagen plays an important role in ensuring the normal elasticity of tendons and ligaments, and the...

Every human being has an individual genome, i.e. a set of genes specific to him or her. Research into human nutrition, thanks to the development of molecular technology, has allowed the development...