The Role of “Master Regulators” in Gene Mutations and Disease

Researchers identify key proteins that help establish cell function

Researchers at the University of California, San Diego School of Medicine have developed a new way to parse and understand how special proteins called “master regulators” read the genome, and consequently turn genes on and off. … Read the full story from the UC San Diego News Center

Christopher K. Glass, MD, PhDThe principal investigator of the reported study is Christopher K. Glass, MD, PhD, professor of medicine in the Division of Endocrinology & Metabolism and professor of cellular and molecular medicine at UC San Diego.

He is on the faculty of the UC San Diego Institute for Genomic Medicine.

Visit the Glass Laboratory website.

Related UC San Diego news stories:

Study Identifies Potential New Class of Drug for Treating Ulcerative Colitis

Oral Drug Shows Clinical Response and Remission in Some Patients

An investigational drug currently under FDA review for the treatment of rheumatoid arthritis has now shown positive results in patients with moderate-to-severe ulcerative colitis, according to researchers at the University of California San Diego, School of Medicine. The study will appear in the August 16, 2012 issue of the New England Journal of Medicine (NEJM). … Read the full story from the UCSD Newsroom

Dr. William J. SandbornThe principal investigator of the study is Dr. William J. Sandborn, professor of medicine and chief of the Division of Gastroenterology at UCSD.  |  Read his academic profile  |  Read his clinical profile

Read the abstract of the study report in the New England Journal of Medicine

Citation of study report:  Sandborn WJ, Ghosh S, Panes J, Vranic I, Su C, Rousell S, Niezychowski W; Study A3921063 Investigators. Tofacitinib, an oral Janus kinase inhibitor, in active ulcerative colitis. N Engl J Med. 2012 Aug 16;367(7):616-24.

DNA Mismatch Repair Happens Only During A Brief Window of Opportunity

In eukaryotes – the group of organisms that include humans – a key to survival is the ability of certain proteins to quickly and accurately repair genetic errors that occur when DNA is replicated to make new cells.

In a paper published in the December 23, 2011 issue of the journal Science, researchers at the Ludwig Institute for Cancer Research and the University of California, San Diego School of Medicine have solved part of the mystery of how these proteins do their job… Read the full story from the UCSD Newsroom

The new findings come from the Laboratory of Cancer Genetics in the San Diego branch of the Ludwig Institute for Cancer Research, the departments of Medicine and Cellular and Molecular Medicine, the Moores Cancer Center, and the Institute for Genomic Medicine in the UCSD School of Medicine.

Senior investigator Richard D. Kolodner, PhD, head of the Laboratory of Cancer Genetics, is a professor in the departments of Medicine and Cellular and Molecular Medicine. First author Christopher D. Putnam, PhD, is assistant professor of medicine and coauthors Hans Hombauer and Anjana Srivatsan are postdoctoral fellows in the Kolodner laboratory.

Read the study report in Science

New Center Looks at How Human Systems Function or Fail

A new center called the National Resource for Network Biology (NRNB), based at the University of California, San Diego School of Medicine, will help clinicians analyze an ever-growing wealth of complex biological data and apply that knowledge to real problems and diseases… Read the full story from the UCSD Newsroom

Dr. Trey Ideker

Lead investigator of the study is Trey Ideker, Ph.D., Professor and Chief of the Division of Medical Genetics in the Department of Medicine and Professor of Bioengineering (pictured above).

Among the Department of Medicine project collaborators is James H. Fowler, Ph.D., Professor of Medicine and Political Science.

Read the abstract of the project.

Research Profile: Dr. Steven Chessler Awarded R01 Grant for Diabetes Research

Dr. Steven ChesslerSteven D. Chessler, MD PhD, has received a 5-year, nearly $2 million R01 grant award from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) for his diabetes research.

Dr. Chessler, Assistant Professor of Medicine in the Division of Endocrinology & Metabolism, focuses his investigations on diabetes and pancreatic islet function.This major funding award will further his studies of the insulin-secreting pancreatic islet beta cells.In type 1 diabetes, autoimmune processes cause damage and dysfunction in these beta cells.

In type 2 diabetes, the beta cells gradually fail, though the reason is unknown.  |  Read the public abstract of Dr. Chessler’s R01 grant

“To develop new treatments for diabetes,” Dr. Chessler says, “we have to gain a better understanding of the biology of the beta cells and the pancreatic islets in which they reside.”

Dr. Chessler and his coworkers have already uncovered new aspects of the insulin secretion system.In a study they reported in Endocrinology last year, they found that beta cells express three families of synaptic cell surface proteins that occur in neurons in the central nervous system.Further, they found that two of the protein families, neuroligins and neurexins, appear to play a role in insulin secretion.  |   Read the abstract of the Endocrinology report

With the R01 award, Dr. Chessler will take the next steps to define the precise role of these cell-surface proteins in beta cell function and assess their potential as therapeutic targets.

Through this work, Dr. Chessler also hopes to identify safe and noninvasive ways to detect and monitor the quantity of pancreatic islet beta cells.

Such a tool would help researchers determine whether a potential new treatment is effective in preventing or reversing the loss of the insulin production capability.

Dr. Chessler’s grant is “Neuroligins and Neuroligin-Neurexin Interactions in Islet Beta Cell Function.”