Daily Archives: October 24, 2014

(HealthDay News) -- A new test that scans all of a person's genes to pinpoint a single mutation can help identify rare genetic disorders in children, a new study shows.

Audrey Lapidus and her husband grew concerned when their son Calvin didn't roll over or crawl by the time he was 10 months old. He also had chronic digestive problems. A series of tests didn't provide any answers.

In desperation, Calvin's parents agreed to have their son become the first person to undergo a powerful new test called exome sequencing at the University of California, Los Angeles.

DNA from Calvin and his parents was placed in a machine that rapidly scanned and compared the three family members' genomes. The machine identified a mutation on the boy's 18th chromosome. He was diagnosed with Pitt-Hopkins Syndrome, a rare genetic disorder that affects only 250 children worldwide, according to researchers.

The diagnosis meant that Calvin's parents could start seeking the best treatment for their son, according to the study published online Oct. 18 in the Journal of the American Medical Association.

"Our study is the first to show that sequencing a child's genome together with his or her parents' dramatically improves geneticists' ability to reach a firm diagnosis in rare disorders," corresponding author Dr. Stan Nelson, vice chair of human genetics and a professor of pathology and laboratory medicine at David Geffen School of Medicine at UCLA, said in a university news release.

Calvin was the first of more than 800 children included in the study.

"We discovered a genetic cause for the conditions affecting 40 percent of the hundreds of young children who come to UCLA for exome sequencing due to developmental delays or intellectual disabilities," Nelson said.

The findings make a strong case for routine clinical use of exome sequencing in efforts to diagnose children with rare genetic disorders, the researchers said.

Unlike earlier tests that assess one gene at a time, exome sequencing rapidly surveys all of a person's 20,000 genes in order to identify a single mutation. The test focuses on the exome, which are protein-encoding parts of genes that account for only 1 percent of DNA but nearly 85 percent of errors known to cause diseases.

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Gene scan helps diagnose mystery disorders in children

Three UCSF faculty members are among 70 new members and 10 foreign associates of the Institute of Medicine (IOM) announced during the organizations 44th annual meeting announced on Oct. 20.

Eric P. Goosby, MD, professor of medicine and director of the Institute of Global Health Delivery and Diplomacy; Deepak Srivastava, MD, professor of medicine and director of the Gladstone Institute of Cardiovascular Disease; and Ron Vale, PhD, professor of cellular and molecular pharmacology and Howard Hughes Medical Institute investigator are the latest UCSF members, bringing the total number of IOM members elected from UCSF to 92.

These individuals and all UCSF members of the Institute of Medicine represent the breadth of our expertise, ranging from national and international leadership in public health to explorations into the genetic blueprint and smallest functional molecules, saidBruce Wintroub, MD, interim dean of the UCSF School of Medicine. Each of them has greatly contributed to our knowledge of disease and our advancement of human health. I congratulate Doctors Goosby, Srivastava and Vale for their extraordinary accomplishments, and I am grateful that they are part of the UCSF community.

Eric P. Goosby, MD

Goosby has a long career in international HIV/AIDS. He was the CEO and chief medical officer of Pangea Global AIDS Foundation from 2001 to 2009, and previously was the director of National AIDS Policy at the While House under President Clinton and the director of the Ryan White Care Act at the US Department of Health & Human Services.

In his role as the Global AIDS Ambassador, Goosby was the nations senior global health diplomat, advancing the mission to improve and save lives and to foster global sustainability. He oversaw PEPFAR (the Presidents Emergency Plan For AIDS Relief), the largest public health endeavor in history with over $45 billion invested in 10 years.

Deepak Srivastava, MD

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Three UCSF Faculty Elected to Institute of Medicine