Mutations in RERE gene result in features that coincide with those associated with 1p36 deletion syndrome

Mutations in RERE gene result in features that coincide with those associated with 1p36 deletion syndrome

By Ana María Rodríguez, Ph.D. Missing the tip of chromosome 1, a region called 1p36, is a relatively common cause of intellectual disability affecting one in 5,000 babies. These children may also have delayed development, seizures, heart and kidney defects, and problems with vision and hearing. The number and severity of these medical conditions varies greatly … Continue reading

Genomic study on renal cell carcinoma reveals potential opportunities for more effective treatments

Genomic study on renal cell carcinoma reveals potential opportunities for more effective treatments

By Ana María Rodríguez, Ph.D. It is well understood that renal cell carcinoma is not a single disease. Patients with this type of cancer have different characteristics which may be explained by changes in the way different genes are expressed. These differences in gene expression may lead to specific derailed metabolic pathways which may result … Continue reading

Many paths to degeneration for neurons

Many paths to degeneration for neurons

By Ruth SoRelle, M.P.H. Adult neurons are touchy. Too much protein can throw them off course, resulting in neurodegeneration. After showing how mutant ATAXIN1 (the protein associated with the neurodegenerative disorder spinocerebellar ataxia 1) cannot fold and be discarded properly, resulting in malfunctioning neurons, Dr. Huda Zoghbi, professor of molecular and human genetics at Baylor … Continue reading

The long research road   

The long research road  

By Ruth SoRelle, M.P.H. When Viola Guerrero learned about the progress in Angelman’s syndrome made by Baylor College of Medicine’s Dr. Arthur Beaudet and his team, she was, in her words, “overwhelmed.” The road to understanding the problem of the imprinted gene in Angelman’s syndrome had been long and difficult. Viola Guerrero and her husband … Continue reading

Baylor, Miraca Holdings agree to joint venture on clinical genetic testing

Baylor College of Medicine and Miraca Holdings Inc., today agreed on a joint venture in which the College will share ownership and governance of its clinical genetics diagnostic laboratories with the Japan-based international healthcare company that has a focus on clinical diagnostics and laboratory tests. Baylor Miraca Genetics Laboratories will be built on Baylor’s existing … Continue reading

Genome sequence of nimble gibbon

Genome sequence of nimble gibbon

The gibbon nimbly maneuvers through the branches of his or her environment, but until an international consortium of experts that included those at the Baylor College of Medicine Human Genome Sequencing Center sequenced and analyzed the ape’s genome, scientists were unclear on the effects of its unusually rapid rate of chromosome rearrangement. In a report … Continue reading