Molecular and Human Genetics News
OTUD6B gene mutations cause intellectual, physical disability Mar 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 infertility Mar 21, 2017 Researchers have uncovered a gene mutation that may provide answers to unexplained female infertility.
Mouse study helps find causes of human behavioral disorders Mar 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 disorder Mar 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 conditions Mar 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 found Mar 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 development Feb 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 disease Feb 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 Award Jan 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 January Jan 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.