Cancer-associated Mutations are Common in Patients with Unexplained Low Blood Counts

November 4, 2015

Researchers use genetic tools to propose a new diagnostic category —

Patients with unexplained low blood counts and abnormally mutated cells who do not fit the diagnostic criteria for recognized blood cancers should be described as having clonal cytopenias of undetermined significance (CCUS), suggest University of California, San Diego School of Medicine researchers in a recent paper published in the journal Blood. The researchers found the condition surprisingly common in older patients with low blood counts. … Read the full story from the UC San Diego Newsroom


Dr. Rafael Bejar

Dr. Rafael Bejar

The senior author of the study is Rafael Bejar, MD, PhD, Assistant Professor of Medicine in the Division of Bone Marrow Transplantation.

Read Article Abstract

Dr. Bejar was one of 41 UC San Diego Health physicians named on the list of San Diego’s Top Doctors for 2015. The annual list is compiled by the San Diego County Medical Society and San Diego Magazine.

Clinical Trial Launched to Assess Safety and Efficacy of Autism Drug Treatment

UC San Diego researchers open first study of suramin in children with autism —

Researchers at the University of California, San Diego School of Medicine have launched a clinical trial to investigate the safety and efficacy of an unprecedented drug therapy for autism.

The phase 1 clinical trial, which is recruiting 20 qualifying participants, will evaluate suramin – a century-old drug still used for African sleeping sickness – as a novel treatment for children with a diagnosis of Autism Spectrum Disorder (ASD). Previous published research by Robert K. Naviaux, MD, PhD, professor of medicine, pediatrics and pathology at UC San Diego School of Medicine, and colleagues reported that a single injection of suramin reversed symptoms of ASD in mouse models. …Read the full story from the UC San Diego Newsroom


Senior author Robert K. Naviaux, MD, PhD, is professor of medicine in the Division of Medical Genetics. He co-directs the Mitochondrial and Metabolic Disease Center at UC San Diego.

Visit the Naviaux Laboratory website

Tumor Suppressor Mutations Alone Don’t Explain Deadly Cancer

Biomarker for head and neck cancers identified

Although mutations in a gene dubbed “the guardian of the genome” are widely recognized as being associated with more aggressive forms of cancer, researchers at the University of California, San Diego School of Medicine have found evidence suggesting that the deleterious health effects of the mutated gene may in large part be due to other genetic abnormalities, at least in squamous cell head and neck cancers. … Read the full story from the UCSD Newsroom


Trey Ideker, PhD

Trey Ideker, PhD, professor and chief in the Division of Medical Genetics and professor of bioengineering, is one of the study’s co-senior authors.

Other Department of Medicine faculty authors include Hannah Carter, PhD, assistant professor; and Scott M. Lippman, MD, professor of medicine and director of the UC San Diego Moores Cancer Center.

Hannah Carter, PhD Dr. Scott M. Lippman

“Wildly Heterogeneous Genes”

New approach subtypes cancers by shared genetic effects; a step toward personalized medicine

Cancer tumors almost never share the exact same genetic mutations, a fact that has confounded scientific efforts to better categorize cancer types and develop more targeted, effective treatments.

In a paper published in the September 15 advanced online edition of Nature Methods, researchers at the University of California, San Diego propose a new approach called network-based stratification (NBS), which identifies cancer subtypes not by the singular mutations of individual patients, but by how those mutations affect shared genetic networks or systems. … Read the full story from the UCSD Newsroom


Trey Ideker, PhDLead investigator in the study is Trey Ideker, PhD, professor of medicine and bioengineering and chief of the Division of Medical Genetics in the Department of Medicine.

Postdoctoral researcher Hannah K. Carter and hematology/oncology fellow John P. Shen are the other Department of Medicine coauthors.

Citation for the study report:  Matan Hofree, John P Shen, Hannah Carter, Andrew Gross, Trey Ideker. Network-based stratification of tumor mutations. Nature Methods (2013) doi:10.1038/nmeth.2651. |  Full text (UCSD only)

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Potential Nutritional Therapy for Childhood Neurodegenerative Disease

Researchers at the University of California, San Diego School of Medicine have identified the gene mutation responsible for a particularly severe form of pontocerebellar hypoplasia, a currently incurable neurodegenerative disease affecting children. Based on results in cultured cells, they are hopeful that a nutritional supplement may one day be able to prevent or reverse the condition…. Read the full story from the UCSD Newsroom


Robert K. Naviaux, MD, PhD, is a coauthor of the study. He is professor of medicine in the Division of Medical Genetics and professor in the departments of pediatrics and pathology.

Naviaux leads a medical genetics research laboratory whose two major areas of study are the mitochondrial mechanisms of disease and development and evolutionary systems biology and marine metagenomics. He is founder and co-director of the UC San Diego Mitochondrial and Metabolic Disease Center.

Citation for the report:  Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith Vaux, Douglas McCloskey, Robert K. Naviaux, Jeremy Van Vleet, Ali G. Fenstermaker, Jennifer L. Silhavy, Judith S. Scheliga, Keiko Toyama, Hiroko Morisaki, Fatma M. Sonmez, Figen Celep, Azza Oraby, Maha S. Zaki, Raidah Al-Baradie, Eissa A. Faqeih, Mohammed A.M. Saleh, Emily Spencer, Rasim Ozgur Rosti, Eric Scott, Elizabeth Nickerson, Stacey Gabriel, Takayuki Morisaki, Edward W. Holmes, Joseph G. Gleeson. AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder. Cell, Volume 154, Issue 3, 1 August 2013, Pages 505–517 http://dx.doi.org/10.1016/j.cell.2013.07.005  Read the report

Related Stories:

Drug Treatment Corrects Autism Symptoms in Mouse Model – March 14, 2013

$5.9 Million Grant to UC San Diego for Paradigm-Shifting Diabetes Research – October 3, 2011

Researchers Block Pathway to Cancer Stem Cell Self-Renewal

NOTCH1 Signaling Promotes T-Cell Acute Lymphoblastic Leukemia-Initiating Cell Regeneration

Research suggests that patients with leukemia sometimes relapse because standard chemotherapy fails to kill the self-renewing leukemia initiating cells, often referred to as cancer stem cells … A team of researchers – led by Catriona H. M. Jamieson, MD, PhD, associate professor of medicine at the University of California, San Diego School of Medicine and director of Stem Cell Research at UC San Diego Moores Cancer Center – studied these cells in mouse models that had been transplanted with human leukemia cells. They discovered … Read the full story from the UCSD Newsroom


Dr. Catriona JamiesonThe senior investigator of the study described in the press release is Catriona H. M. Jamieson, MD, PhD, associate professor of medicine in the Division of Hematology-Oncology and director of stem cell research at the UC San Diego Moores Cancer Center.

In the study, the investigators successfully block leukemia stem cell self-renewal. Their work was funded in part by a California Institute for Regenerative Medicine (CIRM) Development of Highly Active Anti-Leukemia Stem Cell Therapy (HALT) Leukemia Disease Team Research grant for which Dr. Jamieson serves as co-principal investigator with Dennis A. Carson, MD, former director of the Moores Cancer Center.

The overall goal of the HALT project is to develop six drugs – three monoclonal antibodies and three small molecules – to destroy leukemia stem cells.

Funding also came from the Ratner Family Foundation and the Leichtag Family Foundation. Antibody development was performed by Pfizer.

In her research, Dr. Jamieson focuses on translational studies to develop new treatments for myeloproliferative disorders and leukemia. In 2010, she received a $3.34 million grant from CIRM to support her efforts to develop treatments that reduce the risk of relapse in leukemia.  More about this funded project

Dr. Jamieson was named to the “San Diego’s Top Doctors” list for 2010 and 2011.

More information:

How Infectious Disease May Have Shaped Human Origins

Inactivation of two genes may have allowed escape from bacterial pathogens, researchers say

Roughly 100,000 years ago, human evolution reached a mysterious bottleneck: Our ancestors had been reduced to perhaps five to ten thousand individuals living in Africa. In time, “behaviorally modern” humans would emerge from this population, expanding dramatically in both number and range, and replacing all other co-existing evolutionary cousins, such as the Neanderthals. … Read the full story from the UCSD Newsroom

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

Missing Molecule Raises Diabetes Risk in Humans

Researchers at the University of California, San Diego School of Medicine and Rady Children’s Hospital-San Diego say an evolutionary gene mutation that occurred in humans millions of years ago and our subsequent inability to produce a specific kind of sialic acid molecule appears to make people more vulnerable to developing type 2 diabetes, especially if they’re overweight. … Read the full story from the UCSD Newsroom

The authors of the study report include Ajit Varki, M.D. (pictured), Distinguished Professor of Medicine and Cellular & Molecular Medicine and co-director of both the Glycobiology Research and Training Center and the UC San Diego/Salk Center for Academic Research and Training in Anthropogeny (CARTA).   Read the published article (full text).

Schizophrenia Gene Mutation Found; Target for New Drugs

In a major advance for schizophrenia research, an international team of scientists, led by Jonathan Sebat, PhD, assistant professor of psychiatry and cellular and molecular medicine at the University of California, San Diego School of Medicine, has identified a gene mutation strongly linked to the brain disorder – and a signaling pathway that may be treatable with existing compounds. … Read the full story from the UCSD Newsroom

One of the co-authors of the study report is Marie Dell’Aquila, Ph.D., Clinical Professor of Medicine in the Division of Medical Genetics and Director of the Cytogenetics Laboratory for the UC San Diego Health System.