Molecular and Human Genetics News

OTUD6B gene mutations cause intellectual, physical disabilityMar 23, 2017
An international team of researchers from institutions around the world has discovered that mutations of the OTUD6B gene result in a spectrum of physical and intellectual deficits.
Gene mutation may be linked to unexplained female infertilityMar 21, 2017
Researchers have uncovered a gene mutation that may provide answers to unexplained female infertility.
Mouse study helps find causes of human behavioral disordersMar 13, 2017
Research of a mouse model led to the discovery of the genetic cause of the human neurological condition of five patients who, until now, had not received a genetic diagnosis.
Gene ABL1 implicated in cancer, developmental disorderMar 13, 2017
Researchers link ABL1, a human gene well-known for its association with cancer, to a developmental disorder. 
Mutations in CWC27 result in spectrum of conditionsMar 9, 2017
Researchers has discovered that mutations in the human gene CWC27 result in a spectrum of clinical conditions that include retinal degeneration and problems with craniofacial and skeletal development.
Genetic driver behind rare skeletal dysplasia condition foundMar 6, 2017
Researchers have identified a previously unimplicated gene behind a particular form of chondrodysplasia, a skeletal dysplasia that affects cartilage formation and causes disproportionate short stature and premature osteoarthritis.
Many genetic changes can occur early in human developmentFeb 23, 2017
When multiple genetic changes occur before or early after conception, they may inform scientists about fundamental knowledge underlying many diseases.
Research finds strategy that may treat juvenile Batten diseaseFeb 6, 2017
Researchers have discovered a treatment that improves the neurological symptoms in a mouse model of juvenile Batten disease.
Baylor geneticist receives Polish Presidential Scholar AwardJan 26, 2017
Dr. Pawel Stankiewicz was honored with the Polish Presidential Scholar Award of Full Professor, the highest scientific title in Poland.
Monthly Evenings with Genetics seminar to focus on Parkinson’s in JanuaryJan 18, 2017
The next installment of Evenings with Genetics will focus on Parkinson’s disease, with expert speakers providing an overview of treatment for the disease, along with future directions in care.