Sometimes, scientists solve medical mysteries in a day’s work
Articles / Human genetics

Sometimes, scientists solve medical mysteries in a day’s work

It all began on a Thursday, the day Dr. Daryl Scott goes to clinic to visit patients. One of the patients was a young male with intellectual disability, developmental delay, macrocephaly (enlarged head) and very flexible joints. The genetics lab indicated that the patient did not seem to have any known genetic changes that could explain … Continue reading

Of mice, men and proteasomes; OTUD6B variant causes intellectual and physical disability
Articles / developmental disorders / Human genetics

Of mice, men and proteasomes; OTUD6B variant causes intellectual and physical disability

One of Dr. Magdalena Walkiewicz’s patients had not received a genetic diagnosis for his condition that included a number of intellectual and physical disabilities. After following the appropriate protocols, Walkiewicz, an assistant professor of molecular and human genetics at Baylor College of Medicine and assistant laboratory director at Baylor Genetics, ordered whole exome sequencing analysis. … Continue reading

A striking number of genetic changes can occur early in human development
developmental disorders / Human genetics

A striking number of genetic changes can occur early in human development

Dr. Pengfei Liu has a challenging job.  As the assistant laboratory director of Baylor Genetics and assistant professor of molecular and human genetics at Baylor College of Medicine, he is part of a team of researchers that evaluates young patients with a variety of developmental issues in order to determine the posibility of a genetic diagnosis of their condition. … Continue reading

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