Sentences with phrase «human geneticist»

The deCODE whole genomes study is «an amazing piece of work» that «was impossible 5 years ago,» says human geneticist Daniel MacArthur of Massachusetts General Hospital in Boston and the Broad Institute in Cambridge, Massachusetts, who was not involved in the research.

ASHG was founded in 1948 as the primary professional membership organization for human geneticists in the Americas.

An international committee of human geneticists recently voted to change the names of a few human genes because the current, sometimes flamboyant names — like Sonic hedgehog — are either offensive or embarrassing.

To nail down these evasive genes, teams led by human geneticist Jonathan Haines of Vanderbilt University in Nashville, Tennessee, and neurologist Jan Hillert of the Karolinska Institute in Stockholm, Sweden, compared several thousand MS patients from the United States and Europe with their family members and healthy controls.

The study is «important as a proof - of - principle,» adds human geneticist Daniel MacArthur of the Broad Institute in Cambridge, Massachusetts, who himself is on the hunt for rare genes that protect against disease and wrote a commentary accompanying the new paper.

The hypothesis that human evolution is accelerating «all rests on being able to identify recent areas of the genome under natural selection fairly accurately,» says human geneticist Jonathan Pritchard of the University of Chicago.

«The last few decades have been extremely exciting times for human geneticists,» said Dr. Nussbaum.

But her mentor, renowned human geneticist Victor McKusick, then director of medical residents at Hopkins, made it clear even as she was in recovery that her injury should not impede her return to the demanding schedule of a medical resident.

Experts have estimated that such deletions may account for 10 % of all BRCA1 mutations in the U.S. population, says human geneticist Brian Ward, vice president of laboratory operations at Myriad Genetics, one of the main producers of commercial BRCA1 tests.

«There's a potential protective effect here,» says human geneticist Andrew Johnson of the National Heart, Lung, and Blood Institute in Framingham, Massachusetts.

Physician and human geneticist Horst Hameister and his group at the University of Ulm in Germany recently found that more than 21 percent of all brain disabilities map to X-linked mutations.

To identify novel genes involved in Dravet Syndrome and other genetic epilepsies, epilepsy clinicians and human geneticists across Europe recently initiated the EuroEPINOMICS RES (Rare Epilepsy Syndromes) consortium.

In two studies, researchers have found only «a very small ancient Spanish contribution» to British and Irish DNA, says human geneticist Walter Bodmer of the University of Oxford in the United Kingdom, co-leader of a landmark 2015 study of British genetics.

Baylor College of Medicine human geneticist Malcolm Brenner was dismayed by the news of Gilman's resignation.

Human geneticist James Noonan of Yale University said that although the approach was «very clever,» speculation about the physiological changes these two deletions caused and the role they played in shaping human evolution is premature.

Amid all the hoopla, one prominent human geneticist in the audience offered a cautionary note.

The team's results are «very convincing,» says human geneticist Mark Jobling of the University of Leicester in the United Kingdom.

«I think that this paper clearly rejects the model of selection» posited by Collinge's team, says University of Chicago human geneticist Anna Di Rienzo.

The team, led by human geneticist Koh - ichiro Yoshiura of Nagasaki University, had previously localized the earwax gene to a region on human chromosome 16.

That's really the quagmire in this field,» says human geneticist Alfred George of Vanderbilt University in Nashville.

Human geneticists used this code to pinpoint variations that underlie human disease.

Early career human geneticists have more access to technologies, research, and clinical publications than ever before, but we are having difficulties developing independent careers for several reasons.

Join us to learn how human geneticists are adding low - coverage, long - read whole genome sequencing to their study designs to fully power genetic variant discovery and ultimately identify disease - causing variants and genes.

We also hope to help human geneticists to better understand this disease in people.

This is Dr. Yutao Liu, vision scientist and human geneticist in the Department of Cellular Biology and Anatomy at the Medical College of Georgia at Augusta University.

These new genomic technologies are also being employed by human geneticists to advance the success rate of Mendelian disease gene discovery.

Two of the world's largest professional societies of human geneticists have issued a joint position statement on the promise and challenges of non-invasive prenatal testing (NIPT), a new procedure to test blood drawn from pregnant mothers for Down syndrome and other chromosomal disorders in the fetus.

The human geneticist at the University of Bonn is one of the lead authors of the international study.

«She's not a human geneticist, so she didn't get the job,» says Michael Culbertson, chair of the Genetics Lab at UW Madison.

My father himself was a human geneticist who was recognized for demonstrating that older mothers tend to get more Down syndrome children, but he had lots of scientific interests.

In the first paper, a team of researchers led by Sergio Baranzini, a human geneticist at the University of California, San Francisco, analyzed the microbiomes of 71 people with MS and 71 healthy individuals, aged 19 to 71.

«If we know the pathways involved, maybe we can reverse this, find better targets and design better drugs,» says Dr. Yutao Liu, vision scientist and human geneticist in the Department of Cellular Biology and Anatomy at the Medical College of Georgia at Augusta University.

A team of molecular biologists, cardiologists and human geneticists is in charge of this task at the Heart and Diabetes Center NRW.

Human geneticists should take note,» says Ruvkun.

Terry Reed, a human geneticist (emeritus) at the Indiana University School of Medicine, thinks this may be related to how the mutation affects the development of fingerprints.

«They occupy one of the most extreme environments of all humans,» says Iain Mathieson, a human geneticist at Harvard University.

«We can't start talking about improved treatments for Maya because diabetes is a very complex disease, involving lots of yet unknown risk factors, says Teresa Tusié Luna, a human geneticist who studies diabetes at the Salvador Zubirán National Institute of Health Sciences and Nutrition in Mexico City.

Lorena Orozco, another human geneticist at INMEGEN, worries about the methodology used in the study.

Hoping to avoid the potholes that recently wrecked a similarly ambitious study of children, a panel of human geneticists, medical researchers, and other experts today proposed a blueprint for the National Institutes of Health's (NIH's) plan to recruit 1 million Americans for a long - term study of genes and health.

Although the true significance of the new differences between chimps and humans is unclear, «these kinds of things are really exciting,» says Michael Conneally, a human geneticist at Indiana University Medical Center in Indianapolis.

Beverly Emanuel, a human geneticist at the University of Pennsylvania in Philadelphia, notes that some DiGeorge patients have genetic disruptions at the suspect region but seem to have an intact UFD1 gene.

«The literature is full of examples where demographic models predicted using mitochondrial DNA were later corroborated by large - scale genomic analysis,» notes Antonio Salas, a human geneticist at the University of Santiago de Compostela in Spain, who has also studied the mitochondrial genomes of ancient South Americans.

Several capacocha mummies have been found on mountains scattered throughout Inca territory, but the Aconcagua boy is «one of the best preserved,» says Antonio Salas, a human geneticist at the University of Santiago de Compostela in Spain and an author of the new study.

The team, led by James Flanagan, a human geneticist at Imperial College London, discovered a distinct «epigenetic footprint» in study subjects who were smokers.

«Tibetans with these genes appear to be much more efficient with the oxygen they have,» says senior author Lynn Jorde, a human geneticist at the University of Utah School of Medicine in Salt Lake City.

David Altshuler, a human geneticist at Massachusetts General Hospital in Boston and the Broad Institute of Harvard University and the Massachusetts Institute of Technology, says that the study's findings are consistent with natural selection but cautions that there could be other explanations.

Lots of meetings supervising technicians, students, and post-docs in addition to other administrative meetings; lots of time at the computer answering e-mails and writing papers and grants; providing diagnostic cytogenetic services; editorial responsibilities for The American Journal of Human Genetics; relishing the privilege of being a scientist and especially a human geneticist!