Tracing the start of COVID-19 in GA

At a time when COVID-19 appears to be receding in much of Georgia, it’s worth revisiting the start of the pandemic in early 2020. Emory virologist Anne Piantadosi and colleagues have a paper in Viral Evolution on the earliest SARS-CoV-2 genetic sequences detected in Georgia. Analyzing relationships between those virus sequences and samples from other states and countries can give us an idea about where the first COVID-19 infections in Georgia came from. We can draw Read more

Reddit as window into opioid withdrawal strategies

Drug abuse researchers are using the social media site Reddit as a window into the experiences of people living with opioid addiction. Abeed Sarker in Emory's Department of Biomedical Informatics has a paper in Clinical Toxicology focusing on the phenomenon of “precipitated withdrawal,” in collaboration with emergency medicine specialists from Penn, Rutgers and Mt Sinai. Precipitated withdrawal is a more intense form of withdrawal that can occur when someone who was using opioids starts medication-assisted treatment Read more

CROI: HIV cure report and ongoing research

The big news out of CROI (Conference on Retroviruses and Opportunistic Infections) was a report of a third person being cured of HIV infection, this time using umbilical cord blood for a hematopoetic stem cell transplant. Emory’s Carlos del Rio gave a nice overview of the achievement for NPR this morning. As del Rio explains, the field of HIV cure research took off over the last decade after Timothy Brown, known as “the Berlin patient,” Read more

David Ledbetter

Supreme decision on DNA patents

In these days of political polarization, how often does the United States Supreme Court make a unanimous decision? When the case has to do with human genes and their patentability!

The case concerned patents held by Utah firm Myriad Genetics on the BRCA1 and 2 genes. Mutations in those genes confer an increased risk of breast and ovarian cancer. The patents in dispute claimed the genes themselves rather than just the technology for reading them.

Cecelia Bellcross, director of Emory’s genetics counseling program and an expert on breast cancer genetics counseling, reports that “in general, the clinical genetics community is jumping up and down, as are a lot of genetics lab directors and definitely patient advocacy groups.”

Myriad’s BRCA tests cost more than $3,000. Several competing firms announced that they would offer tests for the BRCA1 and 2 mutations at significantly lower prices.

Read more

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Autism linked to hundreds of spontaneous genetic mutations

Emory genetic researchers Daniel Moreno De Luca, Christa Lese Martin and David Ledbetter were part of a team that produced a landmark result in autism genetics. The team identified hundreds of regions of the genome where spontaneous mutations are implicated in autism. Spontaneous mutations are those that arise for the first time in an individual, rather than being inherited from parents.

Christa Lese Martin, PhD

The team was led by Matthew State at Yale, and their results were published in the journal Neuron. Moreno De Luca discussed the topic in Spanish on a recent edition of the NPR program Science Friday. The June 10 segment was focused on autism genetics.

The team made an intriguing finding on a segment of chromosome 7. Deletion of the region is associated with Williams syndrome, where individuals can exhibit “striking verbal abilities, highly social personalities and an affinity for music.” Duplication of the same region, they found, is associated with autism.

Daniel Moreno De Luca, MD MSc

Companion studies also shed light on the question of why boys are more likely to develop autism than girls, and begin to outline a network of genes whose activity is altered in the brains of individuals with autism.

Ledbetter is now chief scientific officer at Geisinger Health in Pennsylvania.

 

 

 

Posted on by Quinn Eastman in Neuro Leave a comment

Congrats to the telomere/ribosome Nobelists

Congratulations to Elizabeth Blackburn, Carol Greider and Jack Szostak for the 2009 Nobel Prize in medicine. The award is for their work on telomeres, the protective caps on the ends of chromosomes that shorten with every cell division and need specialized enzymes to be replenished.

Greider, Blackburn and Szostak discovered telomerase, the enzyme that copies the ends of chromosomes using a special RNA template. Telomerase is turned off in most human cells, but cancer cells often must reactivate it so that they can keep dividing like crazy.

The discovery of telomerase has led to new leads for potential anticancer drugs. This is a good example of the impact basic research can have on medicine, since the prize-winners were not thinking about anticancer drugs in the 1980s when they were doing their work.

Telomeres are specialized protective structures at the ends of chromosomes

Telomeres are specialized protective structures at the ends of chromosomes

The telomere trio’s work relates to several lines of research at Emory.

Immunologist Cornelia Weyand and her colleagues have shown that the telomeres of T cells are abnormally shortened in patients with rheumatoid arthritis. In effect, their cells’ chromosomes are prematurely aged. This result provides some hints on how to treat autoimmune diseases.

If blood-forming stem cells can’t keep their telomeres in shape, they can’t continue to regenerate the blood. Pathologist Hinh Ly’s research has made a connection between genetic defects in telomere maintenance and bone marrow failure syndrome in human patients.

Geneticists Christa Martin and David Ledbetter have been probing the relationship between mutations or recombination in the regions of the chromosome adjacent to telomeres and developmental disorders such as autism and mental retardation.

The 2009 Nobel Prize in Chemistry, awarded to Venki Ramakrishnan, Tom Steitz and Ada Yonath, has an even stronger connection to Emory. Christine Dunham, part of a growing contingent of crystallographers here, worked on ribosome structure in Ramakrishnan’s lab at the MRC.

The ribosome is a machine that decodes mRNA and produces protein step by step

The ribosome is a machine that decodes mRNA and produces protein step by step

She is examining the molecular details of how antibiotics and viruses perturb ribosome function.

What the two Nobels have in common is that they both honor work on molecular machines containing RNA, connections to the ancient, shadowy “RNA world“.

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