Collaboration matters when looking for answers to undiagnosed diseases
Articles / Human genetics / undiagnosed diseases

Collaboration matters when looking for answers to undiagnosed diseases

It used to be that identifying genes involved in a particular disease was like finding a needle in a haystack. Nowadays, scientists still have to search through haystacks of genetic data, but advances in gene sequencing technologies and in computerized strategies to search genomic data sets with vast amounts of information have made the job … Continue reading

New mutations in gene PKD1L1 are associated with disarrangement of human internal organs
Articles / Human genetics

New mutations in gene PKD1L1 are associated with disarrangement of human internal organs

Scientists have linked gene PKD1L1 with disarrangement of human internal organs, known as laterality defects, and complex congenital heart disease. This discovery contributes to a better understanding of the genetic causes of this condition and opens the possibility for families carrying the disease genes to have children unaffected by the disease via prenatal or pre-implantation … Continue reading

Variations in gene ATAD3A can result in distinct neurological syndromes
Articles / Human genetics

Variations in gene ATAD3A can result in distinct neurological syndromes

Research has revealed that a group of rare neurological syndromes for which there was no cause can be the result of variations in the gene ATAD3A. The study, which appears in The American Journal of Human Genetics, shows that certain human variants of ATAD3A are associated with a lower number of mitochondria while the gene equivalents in the fruit … Continue reading