Skip to main content
Premium Trial:

Request an Annual Quote

TGen Launches Clinical Branch of Rare Childhood Diseases Center

NEW YORK (GenomeWeb News) – The Translational Genomics Research Institute held a ribbon-cutting today to launch a new clinic within the Center for Rare Childhood Disorders that will focus on using genomic and molecular techniques to diagnose and treat such disorders.

TGen said on Monday that the new clinical center in Phoenix will use genome sequencing of patients to determine specific molecular causes of these rare disorders.

"We want to use genetic information to understand more about particular disorders, and develop novel approaches to treatment," Matt Huentelman, co-director of the new center and an associate professor in TGen's Neurogenomics Division, said in a statement. "That is what is going to differentiate us from other services — complete integration of the clinical center and the genomic research lab."

In its first project, called Genetic Studies of Patients and their Families with Neurological Diseases of Unknown Etiology, the center is studying DNA and RNA structures to discover the genetic and epigenetic contributions to neurological disorders that doctors have not been able to diagnose in children and young adults.

"At TGen, we now have the tools to sequence the entire genome of these children, in a relatively short time and at ever-lower costs," David Craig, TGen's deputy director of bioinformatics and co-director of the center, said in the statement. "Through this examination of the billions of chemical letters that spell out each human being's unique genome, and analyzing all the potential genetic changes, or mutations, we now have the ability to potentially identify the root cause of each child's condition."

The Scan

Quality Improvement Study Compares Molecular Tumor Boards, Central Consensus Recommendations

With 50 simulated cancer cases, researchers in JAMA Network Open compared molecular tumor board recommendations with central consensus plans at a dozen centers in Japan.

Lupus Heterogeneity Highlighted With Single-Cell Transcriptomes

Using single-cell RNA sequencing, researchers in Nature Communications tracked down immune and non-immune cell differences between discoid lupus erythematosus and systemic lupus erythematosus.

Rare Disease Clues Gleaned From Mobile Element Insertions in Exome Sequences

With an approach called MELT, researchers in the European Journal of Human Genetics uncovered mobile element insertions in exomes from 3,232 individuals with or without developmental or neurological abnormalities.

Team Tracks Down Potential Blood Plasma Markers Linked to Heart Failure in Atrial Fibrillation Patients

Researchers in BMC Genomics found 10 differentially expressed proteins or metabolites that marked atrial fibrillation with heart failure cases.