For those of you that don't know what SMA 1 is, it is the most severe muscular disease that a baby can get," Jesy Nelson said ...

Spinal muscular atrophy (SMA) is a rare genetic condition mostly caused by inherited mutations in the SMN1 gene, although rarer forms of the disease can arise due to mutations in a number of other ...

Most cases of hemophilia — a group of rare bleeding disorders — are genetic, arising when children directly inherit disease-causing mutations from their biological parents. These mutations result in ...

Cystic fibrosis represents one of the most common inherited genetic disorders affecting people of European descent, touching the lives of approximately 30,000 individuals in the United States alone.

Examples of inherited susceptibility to infection controlled by genes segregating at one or a small number of loci have been identified in lower animals. In this study we report data on what appears ...

What Are Inherited Metabolic Disorders? Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective gene ...

Testicular germ cell tumour (TGCT) is the most common cancer in young men, and over half of its high estimated heritability is unexplained. Our objective was to identify rare pathogenic germline ...

Most cases of Duchenne muscular dystrophy (DMD) — a genetic condition characterized by progressive muscle weakness and wasting — result from a parent passing down a disease-causing mutation to a child ...

X linked recessive inheritance pattern. Child inherits one copy of a mutated gene from each parent. Genetic disease or disorder. Affected, carriers or healthy X and Y chromosomes vector illustration.

"I will go up to the six-fingered man and say, 'Hello. My name is Inigo Montoya. You killed my father. Prepare to die.'" - Inigo Montoya, "The Princess Bride" If the six-fingered man had survived his ...

Alport syndrome is a condition that develops due to mutations in three different genes – COL4A3, COL4A4 and COL4A5. The reason that the syndrome has a significant impact on the kidneys is because all ...