Molecular and Human Genetics News
Whole exome sequencing closer to becoming “new family history” Oct 20, 2014 Baylor researchers find one-fourth of patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents.
$6.25M NIH award to lead brittle bone disease clinical research consortium Oct 8, 2014 Baylor College of Medicine has received funding from the National Institutes of Health to lead the Brittle Bone Disorders Consortium of the Rare Disease Clinical Research Network.
Researchers harness power of fly genetics, genomics to speed identification of human neurological disease genes Sep 26, 2014 Fly genetics and genomics help with rapid identification of human disease-causing mutations, including rare single gene or Mendelian disorders.
Mathematical analysis reveals mosaicism, parent of origin as drivers of genetic disease recurrence risk Sep 18, 2014 Baylor researchers develop a new mathematical framework that sheds additional light on mosaicism.
Notch1 and osteoblasts play role in bone cancer initiation Sep 8, 2014 Baylor study finds high levels of Notch1, a gene that helps determine cell fate, can drive cells that normally lead to bone formation to become cancerous.
Computation and collaboration lead to significant advance in malaria Aug 14, 2014 Researchers develop new computational method to study function of disease-causing genes, starting with a gene associated with malaria.
Next generation sequencing shakes up genotype – phenotype correlation, disease discoveries Aug 14, 2014 Next generation sequencing driving new discoveries, understanding of genetic changes and disease causation says Baylor clinical geneticists.
Dr. Malcolm Brenner receives prestigious lifetime achievement honor from Human Gene Therapy journal Aug 5, 2014 Renowned cell and gene therapy clinician-scientist Dr. Malcolm Brenner has received the prestigious Pioneer Award from the journal Human Gene Therapy.
Mosaicism: study clarifies parents as source of new disease mutations Jul 31, 2014 Baylor-led study sheds new light on the frequency of mosaicism in genomic disorders and its influence on recurrence risk.
Marmoset sequence sheds light on primate biology, evolution Jul 20, 2014 Sequencing genome the common marmoset – the first sequence of a New World Monkey – sheds new light on primate biology and evolution.