Alpár Kató | Dec 8, 2018 | 2
Hungarian scientific discovery regarding a rare disease
Hungarian scientists have identified a new gene linked to a rare neurological condition after more than two years of research, Mária Judit Molnár, head of Semmelweis University‘s Institute of Genomic Medicine and Rare Disorders, said on Sunday.
Molnár told public news channel M1 that the patient linked to the research suffered from muscular muscle dystrophy and a balance disorder. It turned out that her children showed symptoms of autism and schizophrenia.
She said that a device purchased as part of the National Brain Research Programme, the only one in the region, can map the entire human genome. After preparing the family‘s complete genomic map, the researchers carried out the genetic tests. This is a complex analysis because,
out of 22,000 human genes, around 3,500 genes have been identified as linked to human diseases.
No genetic faults were found in these so they continued the search.
Anika Gál, a member of the research team, said the Hungarian researchers carried out functional tests in the laboratory of György Hajnóczky in Philadelphia as part of a scholarship programme.
The test revealed a mutation of the gene MSTO1, she said.