Monthly Archives: July 2017

Greenwood Genetic Center (GGC) recently recognized Kasia Ellsworth, PhD, and Catie Spellicy, PhD upon their completion of laboratory fellowships in Clinical Molecular Genetics and Genomics.

Dr. Ellsworth earned a PhD in Molecular Pharmacology and Experimental Therapeutics from Mayo Clinic College of Medicine in Rochester, Minnesota. After finishing a Clinical Biochemical Genetics fellowship at GGC in 2016, she remained at the Center to complete a second fellowship in Clinical Molecular Genetics and Genomics. Dr. Ellsworth has joined GGCs DNA Diagnostic Laboratory as a Clinical Molecular Specialist.

Dr. Spellicy earned a PhD in Human and Molecular Genetics at the University of Texas Health Science Center in Houston (UTHSCH). Prior to enrolling in GGCs program, she also completed two postdoctoral fellowships, the first studying neural tube defects, also at UTHSCH, and the second at Baylor College of Medicine where she studied the genetics of addiction. In July, she will join Mission Fullerton Genetics Laboratory in Asheville, NC as a Clinical Molecular Geneticist.

GGCs two-year fellowships include intensive training in laboratory technologies, clinical genetics and diagnostic laboratory management. GGC is one of only 44 sites in the US and the only program in SC offering this post-graduate genetics training programs in all specialty areas.

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Since GGCs program began in 1989, nearly 40 fellows and residents have completed the training and have gone on to practice medical genetics or lead diagnostic laboratories.

Submitted by Lori Bassett

Continued here:
GGC Graduates Two from Medical Genetics Training Program - Index-Journal

Dogs outnumbered students at the University of Otago yesterday.

Pooches ranging from pugs to boisterous Labradors had their mouths swabbed for DNA on the Dunedin campus grounds as part of a project to gather information on the connection between canine behaviour and genetics.

A large bag of treats proved enough to keep most of the dogs under control - although Yiwen Zheng could not stop her dog Huahua from eating the swab.

The dog gathering signalled the start of a Genetics Society of Australasia conference in conjunction with the New Zealand Society for Biochemistry and Molecular Biology which will draw about 250 delegates to the University of Otago this week.

Darwin Dogs project leader Dr Elinor Karlsson said she expected New Zealand dogs would have different characteristics from the thousands of dogs which had been tested by the citizen-led project in America since it started in 2015.

''New Zealand will have a lot stronger working dog origins. A lot of dogs were bought over here for sheep herding, and at the same time when the Europeans showed up there were already dogs here, so you have the dogs Maori had and presumably those genetics are still in the New Zealand dog population.''

Athleticism, determination and curiosity were obvious traits in the Dunedin dogs, as more than a few slipped their leads to make new canine friends.

While it was too early to conclude the genetic basis of a dog's behaviour, the study had revealed an interesting connection between dogs and humans, Dr Karlsson said.

''I think you can ask any dog owner this, and they probably agree, but it turns out that people and dogs just aren't as different sometimes as we like to think.''

The presentation and treatment of obsessive compulsive disorder (OCD) in humans and canines was one example.

''When comparing dogs with OCD with ones that didn't have it, we found that the genes we were honing in on were in the same kind of pathways in the brain as what we saw when we looked at people with OCD.''

Like humans, when a dog developed OCD it would perform a normal behaviour too often, and the condition was treated with the same drugs in humans and dogs, Dr Karlsson said.

University of Otago department of geology lecturers Dr Christina Riesselman and Dr Chris Moy hoped the project would offer some answers on the behaviour of their golden retriever Arlo.

Arlo made more of a meow than a bark and favoured a particular ''security blanket'', Dr Riesselman said.

Conference organiser and University of Otago centre for genetics Prof Peter Dearden said he hoped to find out the breed of his dog Barkley, who looked like a ''lab crossed with a pony''.

Dr Karlsson opened the conference with a talk about the Darwin Dogs project last night.

The health and histories of New Zealand populations using evolutionary genomics, conservation and genetics and molecular research will be among the other topics discussed at the conference.

margot.taylor@odt.co.nz

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Dogs have their day at conference - Otago Daily Times

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A fundraising page set up in memory of Nottingham's official Maid Marian will support a range of cancer and end of life charities.

Dr Sally Pollard died on Friday, June 16, aged just 39 after losing her battle with breast cancer.

Sally was a lecturer and researcher in human molecular genetics at The University of Nottingham.

She was diagnosed with the disease in July 2015 after she started noticing changes in her breasts. She visited her local GP and specialists confirmed the devastating news that it had spread to her bones and liver.

Sally and her husband Tim Pollard - the city's official Robin Hood - received help from a number of charities, including Macmillan Cancer Support, during her fight against the disease.

As a 'thank you' for that support, Tim set up a Go Fund Me page to raise money for Macmillian Cancer Support, the Red Cross, Nottingham City Hospital's Hayward House Specialist Palliative Care Unit, Nottingham and Treetops Hospices and Maggie's Nottingham on Friday (June 30).

Tim asked loved ones to donate to the Sally Pollard's Thank You Fund instead of having flowers at Sally's funeral, and by Sunday (July 2) afternoon 985 had already been raised.

The 53-year-old, who lives in Beeston, is overwhelmed by the "brilliant" support.

He said: "The help that Sal got was second to none. It was lovely care from all of the organisations involved.

"She really wanted to stay at home if possible and thankfully, with the help of the Red Cross and both of the Nottingham hospices - especially our Macmillan nurse, who was just brilliant - we managed.

"When the time came, she was at home surrounded by everybody that loved her and that meant everything to her - that's a simple thing but it's an important thing. If we can raise some money to help someone have a bit of extra care and help from the people that helped us that's brilliant."

Sally's funeral will be held in private but Tim will be celebrating her life with family and friends at the Nottingham Riverside Festival, which was "always Sal's favourite".

The three-day festival, held on Victoria Embankment, starts on Friday, August 4, which would have been Sally's 40th birthday.

Tim said: "This year would have been her 40th birthday. We're turning Riverside into 'Sal Fest' so that anybody who knows or loves Sal can come down and make it a big celebration."

Last month, Tim told The Post that a tree will be planted over Sally's final resting place.

It will be called 'Mummy's Tree' and will be a place that Tim and the couple's three-year-old daughter Scarlett can visit regularly.

You can find the Sally Pollard's Thank You Fund page here.

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Fundraising page set up in memory of Nottingham's Maid Marian - Nottingham Post

Whole genome sequencing involves the analysis of all three billion pairs of letters in an individuals DNA and has been hailed as a technology that will usher in a new era of predicting and preventing disease.

However, the use of genome sequencing in healthy individuals is controversial because no one fully understands how many patients carry variants that put them at risk for rare genetic conditions and how theyand their doctorswill respond to learning about these risks.

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In a new paper published June 26 in the Annals of Internal Medicine by investigators at Harvard Medical School and Brigham and Womens Hospital, along with collaborators at Baylor College of Medicine, report the results of the four-year, NIH-funded MedSeq Project, the first-ever randomized trial conducted to examine the impact of whole genome sequencing in healthy primary care patients.

In the MedSeq Project, 100 healthy individuals and their primary care physicians were enrolled and randomized so that half of the patients received whole genome sequencing and half did not.

Nearly 5,000 genes associated with rare genetic conditions were expertly analyzed in each sequenced patient, and co-investigators from many different disciplines, including clinical genetics, molecular genetics, primary care, ethicsand law, were involved in analyzing the results.

Researchers found that among the 50 healthy primary care patients who were randomized to receive genome sequencing, 11 (22 percent) carried genetic variants predicted to cause previously undiagnosed rare disease.

Two of these patients were then noted to have signs or symptoms of the underlying conditions, including one patient who had variants causing an eye disease called fundus albipunctatus, which impairs night vision.

This patient knew he had difficulty seeing in low-light conditions but had not considered the possibility that his visual problems had a genetic cause.

Another patient was found to have a genetic variant associated with variegate porphyria, which finally explained the patients and family members mysterious rashes and sun sensitivity.

The other nine participants had no evidence of the genetic diseases for which they were predicted to be at risk. For example, two patients had variants that have been associated with heart rhythm abnormalities, but their cardiology workups were normal. It is possible, but not at all certain, that they could develop heart problems in the future.

Sequencing healthy individuals will inevitably reveal new findings for that individual, only some of which will have actual health implications, said lead author Jason Vassy,an HMS assistant professor of medicine at Brigham and Womens and primary care physician at the VA Boston Healthcare System.

This study provides some reassuring evidence that primary care providers can be trained to manage their patients sequencing results appropriately, and that patients who receive their results are not likely to experience anxiety connected to those results. Continued research on the outcomes of sequencing will be needed before the routine use of genome sequencing in the primary care of generally healthy adults can be medically justified, Vassy said.

Primary care physicians received six hours of training at the beginning of the study regarding how to interpret a specially designed, one-page genome testing report summarizing the laboratory analysis.

Consultation with genetic specialists was available, but not required. Primary care physicians then used their own judgment about what to do with the information, and researchers monitored the interactions for safety and tracked medical, behavioral and economic outcomes.

The researchers noted that they analyzed variants from nearly 5,000 genes associated with rare genetic diseases. These included single genes causing a significantly higher risk for rare disorders than the low-risk variants for common disorders reported by direct-to-consumer genetic testing companies. No prior study has ever examined healthy individuals for pathogenic (high-risk) variants in so many rare disease genes.

We were surprised to see how many ostensibly healthy individuals are carrying a risk variant for a rare genetic disease, said Heidi Rehm, HMS associate professor of pathology at Brigham and Women's anddirector of the Laboratory for Molecular Medicine at Brigham and Women's.

We found that about one-fifth of this sample population carried pathogenic variants, and this suggests that the potential burden of rare disease risk throughout our general population could be far higher than previously suspected,said Rehm, a co-investigator on the study who directed the genome analysis.However, the penetrance, or likelihood that persons carrying one of these variants will eventually develop the disease, is not fully known.

Additionally, investigators compared the two arms of the studyand found that patients who received genome sequencing results did not show higher levels of anxiety. They did, however, undergo a greater number of medical tests and incurred an average of $350 more in health care expenses in the six months following disclosure of their results. The economic differences were not statistically significant with the small sample size in this study.

Because participants in the MedSeq Project were randomized, we could carefully examine levels of anxiety or distress in those who received genetic risk information and compare it to those who did not, said Amy McGuire,director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine.

While many patients chose not to participate in the study out of concerns about what they might learn, or with fears of future insurance discrimination, those who did participate evinced no increase in distress, even when they learned they were carrying risk variants for untreatable conditions, saidMcGuire, who supervised the ethical and legal components of the MedSeq Project.

There has also been great concern in the medical community about whether primary care physicians can appropriately manage these complicated findings. But when a panel of expert geneticists reviewed how well the primary care physicians managed the patients with possible genetic risk variants, the experts determined that only two of the 11 cases were managed inappropriately and that no harm had come to these patients.

MedSeq Project investigators note that the studys findings should be interpreted with caution because of the small sample size and because the study was conducted at an academic medical center where neither the patients nor the primary care physicians are representative of the general population. They also stressed that carrying a genetic risk marker does not mean that patients have or will definitely get the disease in question. Critical questions remain about whether discovering such risk markers in healthy individuals will actually provide health benefits, or will generate unnecessary testing and subsequent procedures that could do more harm than good.

Integrating genome sequencing and other -omics technologies into the day-to-day practice of medicine is an extraordinarily exciting prospect with the potential to anticipate and prevent diseases throughout an individuals lifetime, said senior author Robert C. Green, HMSprofessor of medicineat Brigham and Womens Hospital,associate member of the Broad Institute of Harvard and MITandleader ofthe MedSeq Project. But we will need additionalrigorously designed and well-controlled outcomes studies like the MedSeq Project with larger sample sizes and with outcomes collected over longer periods of time to demonstrate the full potential of genomic medicine.

The MedSeq Project is one of the sites in the Clinical Sequencing Exploratory Research Consortium and was funded by the National Human Genome Research Institute, part of the National Institutes of Health.

The Genomes2People Research Program at Brigham and Womens Hospital, the Broad Institute and Harvard Medical School conducts empirical research in translational genomics and health outcomes. NIH-funded research within G2P seeks to understand the medical, behavioral and economic impact of using genetic risk information to inform future standards. The REVEAL Study has conducted several randomized clinical trials examining the impact of disclosing genetic risk for a frightening disease. The Impact of Personal Genomics (PGen) Study examined the impact of direct-to-consumer genetic testing on over 1,000 consumers of two different companies. The MedSeq Project has conducted the first randomized clinical trial to measure the impact of whole genome sequencing on the practice of medicine. The BabySeq Project is recruiting families of both healthy and sick newborns into a randomized clinical trial where half will have their babys genome sequenced. Green directs the Program.

Adapted from a Brigham and Women's news release.

Link:
Genetic Testing for the Healthy - Harvard Medical School (registration)

San Francisco Classical Voice

The Passions of Nazneen Rahman San Francisco Classical Voice She completed her degree in medicine at Oxford University in 1991, undertook training as a resident in Oxford and London, and earned a Ph.D. in Molecular Genetics in 1999. Today, she is Professor Rahman, age 50, head of the Division of Genetics and ...

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The Passions of Nazneen Rahman - San Francisco Classical Voice