Greenwood Genetic Center Newsletter - Winter 2018

Winter 2018

A Newsletter for the Friends of the Center

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Aquaculture facility opens housing Center’s first model organism

e WherCOMPASSION p.

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Genetic counselor recognized for dedication and leadership

INSPIRES p.

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Senator Billy O’Dell honored with dedication of boardroom

www.GGC.org

PROGRESS p.

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Laboratory partnerships improve diagnostics and advance clinical trials

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WHOLE GENOME SEQUENCING TECHNOLOGY IN USE NovaSeq™, is allowing us to apply this rapidly advancing technology to particularly challenging patient cases with the goal of finding answers that are unavailable using current methods.”

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he Greenwood Genetic Center is now home to South Carolina’s only NovaSeq™ 6000 instrument, a stateof-the art DNA sequencer produced

by Illumina. The NovaSeq™ is a joint acquisition between the Greenwood Genetic Center and the Clemson Center for Human Genetics to provide high-throughput, high-quality DNA sequencing data for a variety of projects.

The NovaSeq™ allows for the sequencing of the entire 3 billion base pairs within the human genome. This testing is also known as whole genome sequencing (WGS).

The new instrument has the capacity to run genomes on 30 patients in less than two days.

It can also run a more limited analysis known as a whole exome sequencing which covers only the gene coding regions of the DNA (approximately 1% of the entire genome). The NovaSeq™ can run 217 exomes at a time compared to nine on the previous model of sequencers.

Whole genome sequencing, while powerful, is not currently in widespread clinical use. The technology will first be used at GGC for research samples.

GGC is not offering the test clinically, yet.

“While we can now sequence all 3 billion base pairs in a patient’s DNA, our ability to interpret any changes we find is still a challenge,” said Julie “Currently, we are able to identify a Jones, PhD, Director of GGC’s Clinical genetic diagnosis for just over half Genomic Sequencing Program. “This of the patients who are referred to is a robust technology generating our clinic,” said GGC Director Steve Skinner, MD. “We are optimistic that very large amounts of data, and even when we find a variant of interest, it’s novel technologies like WGS, will help us improve that diagnostic rate.” significance for the patient may not be immediately clear. Our lab, along with GGC’s bioinformaticians and WGS performed on the NovaSeq™ researchers, work together to help is one of six novel and emerging technologies that GGC is undertaking determine the functional significance of any changes that are found.” through an initiative known as TGEM (Technology and Genomics The NovaSeq™is able to sequence Enhancing Medicine). The goal of human DNA, as well as that of other TGEM is to increase the diagnostic organisms including zebrafish, which yield by 20% over the next three are now part of GGC’s research years - such a dramatic increase program (p.4) and fruit flies, which are is unprecedented in the history of being studied at the Clemson Center for clinical genetics.

Human Genetics in Greenwood (p.9) “We know that whole genome Above: Jessica Cooley, Molecular Laboratory technologist, sequencing is a powerful tool, said and Jennifer Lee, PhD, Lead Director of the Molecular Skinner. “The acquisition of the Laboratory prepare the NovaSeq™ for a sample run.

GGC ‘CHAMPION’ HONORED BY CENTER

SC State Senator Billy O’Dell was honored in July as the Greenwood Genetic Center dedicated the Senator William H. “Billy” O’Dell Boardroom. Senator O’Dell served the Greenwood area in the SC State Senate for 27 years until his death in January of 2016.

“Throughout his tenure in the legislature, Senator O’Dell was a champion for the Greenwood Genetic Center and all of the patients and families we serve,” said GGC’s Director, Dr. Steve Skinner, at the dedication event. “His calm and steady leadership and enthusiastic support of our work helped us to launch several initiatives that have advanced research progress and treatment programs for patients across SC.” Skinner said that Senator O’Dell’s support has allowed GGC to expand in several key areas including growth of the Center’s metabolic treatment program which provides lifesaving therapies for patients with metabolic disorders, the expansion of Greenwood’s campus through the SC Center for the Treatment of Genetic Disorders, and funding to construct the recently-opened Clemson University Center for Human Genetics on the Center’s Greenwood campus (p.9).

John Stroud, CEO and President of O’Dell Corporation, spoke on behalf of the family sharing that Senator O’Dell was always so passionate when talking about the Greenwood Genetic Center. “To put his name above a door here would make him more proud than anybody could imagine.”

Skinner added, “It is fitting that GGC’s leaders will see his name and be inspired to follow his model of compassion and leadership every time they convene in this room to discuss the future of our Center.”

Photo (l-r) - Sen. O’Dell’s wife, Gayle O’Dell (center), and their children Michelle Foster and Chip O’Dell in front of the room that bears his name.

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NEW CURRY CHAIR IN THERAPEUTICS GGC cofounder and senior clinical geneticist, Roger Stevenson, MD, has been named as the Ravenel Boykin Curry Chair in Genetic Therapeutics at the Center.

Stevenson’s new role will involve overseeing the growth and development of the Center’s treatment initiatives. He will be supporting several cores of existing treatment programs including birth defects prevention, newborn metabolic treatment, enzyme replacement therapies, and clinical trials. His primary focus will be on novel treatments such as gene therapy and gene editing.

“GGC can attribute its growth and success directly to the vision of Dr. Roger Stevenson,” said Steve Skinner, MD, GGC Director. “We have done an international search to fill this very important position, but sometimes the best person for the job is already right in front of you. Dr. Stevenson possesses both the vision and passion for where we want to go, as well as the ability to pull together the resources and collaborations to help lead us there.”

Stevenson replaces Walter Kaufmann, MD who held the position from 2015-18.

PATTERSON AWARD RECIPIENT Timothy Fee, PhD, staff scientist in the microarray diagnostic laboratory has been awarded GGC’s 2018 Susan R. Patterson Professional Development Award in Bioinformatics and Computational Genomics.

Fee, who joined GGC’s faculty in 2016, has a PhD in Biomedical Engineering. He uses his engineering expertise to improve existing work flows, implement new technologies for diagnostic testing, and automate data processing for both the diagnostic and research laboratories.

“Dr. Fee’s exceptional work and engineering mindset has allowed us to improve the technology and turnaround time in our laboratory, resulting in faster answers for more patients,” said Barb DuPont, PhD, Senior Director of GGC’s Cytogenetics and Microarray Laboratories.

The award, established by Dr. Walt Patterson, Professor Emeritus of Mathematics at Lander University, in memory of his wife, supports ongoing professional education and development for faculty and staff at GGC who are involved in bioinformatics work. Fee used funds from the award to travel to Atlanta for the Biomedical Engineering Society’s annual meeting in October.

“I am tremendously thankful for the opportunity to attend this meeting, and to the GGC Foundation and Dr. Patterson for honoring the legacy of his wife in a way that will help us improve our work and honor our commitment to the patients and families we serve,” said Fee.

THINK TANK FOR RARE DISORDER Charles Schwartz, PhD (center), Senior Research Scholar and former Director of Research at GGC, attended a scientific meeting in Dubai on ZC4H2 deficiency.

He and his team at GGC, along with colleagues in Korea, identified the gene for this rare disorder in 2015.

Schwartz described the meeting as a ‘think tank’ bringing together clinicians and researchers from around the world to discuss the current state of research and brainstorm ways to move toward treatment. He is working on several projects that came out of the meeting including using facial recognition software to accelerate the diagnosis and analyzing metabolic changes or gene expression patterns to help identify potential targets for treatment.

Schwartz, who hosted a similar meeting in Greenwood last year for another ultrarare disorder, Snyder-Robinson syndrome, noted that these types of international gatherings hold great promise for progress.

“When we bring all stakeholders to the table together we can have the types of discussions that really stimulate innovative solutions,” added Schwartz. “We feed off of each other scientifically, and we learn so much from the patients and families.”

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NEW RESEARCH LEADERSHIP

AND 10,000 NEW RESEARCH ASSOCIATES Richard Steet, PhD (left) and Heather Flanagan-Steet, PhD observe a tank of zebrafish in the Hazel and Bill Allin Aquaculture Facility

GGC PATIENTS FIRST IN FXS TRIAL

GGC is one of 20 sites worldwide enrolling patients in a treatment trial for Fragile X syndrome (FXS). Zynerba Pharmaceuticals initiated the trial earlier this year to test the safety and efficacy of its cannabis-based drug, ZYN002. This compound contains CBD, a non-euphoric cannabinoid, which has shown promise in treating behavioral issues in FXS as well as epilepsy in phase 1 and 2 clinical trials. This medication does not contain the endocannabinoid THC. ZYN002 is a gel administered through the skin allowing absorption directly into the bloodstream, avoiding the liver and digestive tract. This will potentially allow for lower dosage levels, less drug-drug interaction and prevent one of the few side effects of CBD, gastrointestinal issues.

The study, CONNECT-FX, is a pivotal phase 2/3 trial of ZYN002 vs placebo administered to 200 individuals between ages 3-17 who have Fragile X syndrome. GGC screened the trial’s very first patient in November.

Fragile X syndrome is a neurodevelopmental genetic disorder that causes intellectual disability, autistic-like features, and behavioral issues. It is the most common genetic cause for both autism and intellectual disability, affecting 1 in 4,000 males and 1 in 6,000 females.

“Patients with Fragile X syndrome deal with a number of challenging behaviors including irritability, anxiety, social withdrawal, and aggression, that make home life and social interactions very difficult,” said Carrie Buchanan, MD, a developmental-behavioral pediatrician in GGC’s Greenville office. “This drug shows great promise in alleviating many of these debilitating behaviors, thus improving the quality of life and social functioning of both patients and their families.”

For more information on this study, contact Aubin Tierney in GGC’s Greenville office at (864) 672-6895 or atierney@ggc.org

To say that GGC’s

Division of Research has undergone some changes would be quite an understatement.

One challenge for Steet was that GGC didn’t have any animal models, so he brought his own.

Throughout the summer and early In August, Richard Steet, PhD, joined fall, GGC has worked closely with Steet and his colleague and spouse, the Center’s faculty as Director of Heather Flanagan-Steet, PhD, to Research and Head of the JC Self establish an aquaculture facility Research Institute. Steet assumes on GGC’s campus for their animal this position from Charles Schwartz, model, the zebrafish. Flanagan-Steet PhD, who has been at GGC for 33 years and led the research division to is the Director of the Aquaculture international prominence as an expert Facility and GGC’s Director of in the study and diagnosis of X-linked Functional Studies. intellectual disability. Schwartz has In October, during Gene Week, the transitioned into a position as a facility was formally dedicated as Senior Research Scholar at GGC. the Hazel and Bill Allin Aquaculture Facility, named in recognition of Steet joins GGC from the University a gift to the Greenwood Genetic of Georgia where he was Professor Center Foundation from Hazel and Director of the Complex and Bill Allin of Greenville. The Carbohydrate Research Center. His facility will ultimately house 10,000 current research program, funded zebrafish that will be used to study by the NIH and private foundations, genetic disorders, learn about the is focused on defining disease genes that underlie them, and mechanisms for two different classes identify new ways to treat them. of inherited diseases: lysosomal storage disorders and the congenital “Many of our studies will address disorders of glycosylation. the functional significance of genetic variations in patients and will help In his research, Steet uses both cell accelerate a diagnosis for them,” and animal-based models of human said Steet at the dedication event disease along with a combination which welcomed the Allins, GGC of chemical, molecular and developmental approaches to unravel staff, board members, donors, and supporters. “Other studies in this the complex pathogenesis of these model system will focus on defining disorders and explore new ways to disease pathogenesis and the ability treat them.

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Flanagan-Steet, PhD, GGC’s new Director of Functional Studies at and Director of the Aquaculture Facility.

“We can also apply therapies to the zebrafish and quickly determine if the therapy is able to rescue the disease symptoms.”

Inside the housing room of the Aquaculture Facility

to do drug screening in these animals to identify new therapies.”

Zebrafish are commonly used as a model organism for studying human genetic disorders, partly because they share approximately 70% of their genes with humans. 85% of disease-causing genes in humans have a zebrafish counterpart.

“Zebrafish develop externally and the embryos are also transparent, making it easier to watch the development of both normal zebrafish and those with a genetic mutation,” said Heather

“The addition of the aquaculture facility is the beginning of a shift in the paradigm of genetic research at GGC,” shared Skinner. “With the longstanding research reputation of GGC and Rich and Heather’s commitment to both scholarship and compassionate patient care, we are excited to embark upon this new era of discovery with the promise of making lifechanging breakthroughs for patients impacted by rare diseases as well as more common disorders like autism.”

Beyond his work with zebrafish models, Steet has other goals for GGC’s Research Division to integrate the Center’s strengths in basic science research with clinical and translational studies, to enhance partnerships with pharmaceutical companies that can

drive therapeutic development, and to collaborate with the Clinical and Diagnostic divisions of GGC to enhance our understanding of the genetic basis for birth defects and disabilities.

Dr. Steet is a dedicated advocate of rare disease research and serves on the scientific advisory boards for the National MPS Society and ISMRD.

GGC Research Technologist, Chelsi Jeter, and her colleagues have adapted well to their new responsibilities which include new types of research assays as well as caring for thousands of zebrafish.

NIH FUNDING The Greenwood Genetic Center’s new Director of Research, Richard Steet, PhD, has successfully renewed a National Institutes of Health R01 grant from the National Institute of General Medical Sciences which will bring $1.2 million dollars to the Center’s Division of Research over the next four years.

The grant titled “Pathogenic Mechanisms of Lysosomal Disease” allows Steet and colleagues to continue their prolific work in using zebrafish models of a rare lysosomal storage disorder known as mucolipidosis II (ML II). Patients with ML II have coarse facial features, significant skeletal and joint abnormalities, intellectual disability, and a significantly shortened life span.

Steets’ previous work on ML II has identified that enzymes called cathepsins are key to the abnormal cartilage development associated with ML II. This discovery has led to a possible new treatment strategy for patients with ML II that will target the excessive activity of these enzymes outside the cell. Earlier studies in zebrafish have shown that this strategy can rescue many of the features of ML II. This new round of funding will focus on the role of sugar polymers called GAGs in the disease process. Studies will assess how these polymers regulate the activation and activity of the cathepsins.

“This project highlights the value of using the zebrafish system to study genetic disorders,” said Steet, “Using zebrafish allows us to not only better understand the disease process, but also allows us to identify treatment targets and test those treatments. We look forward to expanding this work at GGC in the coming years.”

LABORATORY PARTNERSHIPS Greenwood Genetic Center 6

GGC’S Diagnostic Laboratories have attracted collaborations with numerous industry partners, both across the US and around the world.

Why GGC? Our labs offer specialized testing that can’t be found elsewhere. Plus, GGC’s spirit of internal collaboration allows us to offer cohesive and comprehensive testing from biomarker analysis to enzyme studies to molecular genotyping, all in one location.

Through these many projects, we are expanding our reach and making a significant impact on patients globally. These projects are advancing treatments and reaching more patients who need hope and answers.

The work with our industry partners is designed to improve our understanding of a variety of genetic disorders, provide an earlier diagnosis, as well as to advance clinical trials including those involving gene therapy (correcting a DNA mutation), enzyme replacement therapy (providing a missing enzyme), substrate reduction therapy (preventing the buildup of harmful substances), and clearance therapy (removing damaging metabolites).

PROJECTS Natural History Studies

Diagnostic Testing

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Test Development

Clinical Trials

Active projects

12

with more in the pipeline Industry partners

16

20

Genetic disorders

SAMPLES 16,000

12,504 biochemical samples 2,764 molecular samples

12,000 8,000 4,000

2013

2014

2015

2016

2017

2018

Total

IMPACT The ultimate impact of this work is measured in the patients we diagnose and the treatments we help develop. These partnerships do also bring a financial impact to the Center, allowing us to expand our testing capabilities and in the long run, serve more patients and families.

$2,000,000* $1,301,304 $961,722 $508,642 2016

2017

2018

2019

*projected

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MPS SOCIETY GRANTS Advancing basic science work and direct clinical applications for patients

Flanagan-Steet has previously identified the importance of enzymes known as cathepsins in the development of heart and skeletal abnormalities in patients with ML II. Cardiac disease is the most common cause of death in children with ML II.

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he National Mucopolysaccharidosis (MPS) Society has awarded two grants to GGC scientists.

Director of Functional Studies, Heather Flanagan-Steet, PhD and Director of GGC’s Biochemical Genetics Laboratory, Tim Wood, PhD (pictured above), will be working on separate two-year projects aimed at improving the diagnosis and treatment for these rare disorders.

MPS and related disorders, as a group, affect approximately 1 in 25,000 individuals. The National MPS Society provides support resources for families as well as funding for research into this group of disorders which can affect the health, development, quality of life and lifespan of affected individuals.

Flanagan-Steet has been awarded a $90,000 grant from the MPS Society to continue her previous work on mucolipidosis II (ML II), a rare genetic disorder that causes coarse facial features, significant skeletal and joint abnormalities, intellectual disability, and a significantly shortened life span.

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Her current project utilizes an ML II zebrafish model to better understand how these enzymes function in cardiac and skeletal development and test inhibitors as a potential treatment to improve symptoms for these patients (see image below).

Wood’s $30,000 award from the MPS Society will focus on better characterizing genetic changes found in the gene for MPS I. His lab will perform enzymatic and biochemical analysis of variants in the gene that causes MPS I to determine if those variants are benign or disease-causing.

“Newborn screening for MPS I has begun in many states, so infants can be identified early, an advance that has important implications for treatment,” said Wood. “However, this testing is identifying many new variants that we aren’t sure if they are actually diseasecausing. This leaves families concerned and frustrated, not knowing if their child is affected or not.”

GGC has a long-standing interest in MPS disorders, providing clinical care, diagnostic testing and research for many of these rare conditions.

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Prior work by Dr. Flanagan-Steet - (1) normal, wild-type, two-chamber zebrafish heart; (2) imaging of the heart from a zebrafish with ML II (note the abnormal position of the two chambers and disorganized valve in green); (3) a rescued heart from a zebrafish with ML II following drug treatment.

NATIONAL LEADERSHIP

In addition to her daily responsibilities of identifying chromosomal abnormalities in patients with a variety of concerns from intellectual disability to cancer, Greenwood GGC’s Cytogenetics Laboratory Senior Director, Dr. Barb DuPont, is representing the field of cytogenetics on a national level.

DuPont has been elected as president of the American Cytogenetics Conference (ACC).

The ACC is an educational organization comprised of over 300 cytogeneticists from the US, Canada, and Europe. Their biannual conference is centered on the sharing of ideas and discussions of new discoveries in the field of cytogenetics, providing scientific sessions for learning, as well as time for networking with colleagues.

DuPont will be instrumental in planning the next conference which will be held in Hilton Head Island, SC in 2020.

“The ACC is a wonderful organization which gives us an opportunity to exchange ideas, learn new technologies, and work on solving problems in the laboratory,” shared DuPont.

“It is a privilege to serve this organization and work with many world renowned cytogenetics professionals.”

“One of the ways GGC stays on the cutting edge of technology is through our involvement in various national and international scientific organizations,” said Dr. Steve Skinner, Director of GGC. “We are proud to have Dr. DuPont as not only an active participant in the ACC, but in this leadership role where she will not only keep up with advances, but will help guide them.”

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GENE WEEK

AND MORE GGC FOUNDATION NEWS

T he third annual ‘Gene Week’ was held at GGC in the fall. Gene Week is a

celebration of all things genetic, sharing GGC with the broader community and raising awareness and funds for the GGC Foundation which support the mission of the Center.

September 29th We’re not sure if was the name of the band or just coincidence, but Jammin’ for Genes had to contend with some bad weather. However, moving inside didn’t dampen the spirits of attendees who enjoyed BBQ, an art exhibit, and the music of Bad Weather States.

October 2nd GGC dedicated the Hazel and Bill Allin Aquaculture Facility (p. 4) with GGC employees, friends and donors in attendance. This legacy gift from the Allins allows GGC to advance our research program to include the Center’s first animal model for human genetic disorders.

October 4th GGC’s new Director of Functional Studies, Heather Flanagan-Steet, PhD provided an illuminating Science on Tap lecture discussing the ins and outs of CRISPR gene editing technology.

October 6th Gene Week concluded on Saturday, October 6th with the 8th annual Race the Helix®- Greenwood. This year’s event was the largest to date with over 300 runners, walkers, and volunteers raising over $24,000 to support GGC’s mission. This year also saw a tremendous increase in community sponsorship.

Emmerson Huffman just edges out her dad as they reach the finish line at Race the Helix-Greenwood.

Bogies for Babies

The GGC Foundation is grateful for the compassion and initiative of two moms who have experienced the unthinkable the loss of a child.

Caroline McDonald Poston, who has been served directly by GGC’s SC Birth Defects Prevention Program, and Christen Severance Cox (both pictured below, center) honored the memory of their babies, Charlotte Kathleen Poston and Bailey Lynn Cox, with an event called ‘Bogies for Babies,’ a golf tournament and race held in Florence, SC in October. They raised awareness for GGC and $2,300 for the GGC Foundation in their first year as a fundraiser!

GGC provided folic acid educational materials and goodies for the participants, and Shannon Bell (below right) and Jennifer Lynch (below left), service coordinators from GGC’s Florence office, represented the Center and provided breakfast.

If you are interested in hosting an event to benefit the GGC Foundation, please contact us at (864) 388-1801. We would love to offer our assistance and support!

JOURNEY OF DISCOVERY

T he Greenwood Genetic Center Foundation has launched a year-long ‘Journey of Discovery’ campaign to raise funds for several important research and diagnostic initiatives - all designed to improve the ability of scientists to reach a diagnosis and advance work toward developing treatments for a variety of genetic disorders.

The Foundation has set a campaign goal of $1.35 million by January 2020 to support three major initiatives.

(1) Aquaculture Facility - Development and study of animal models to discover how genetic mutations cause disease and test methods of treatment (p.4) (2) Confocal Microscopy - A revolutionary method that allows researchers to observe processes within cells and tissues with incredibly high resolution and in a noninvasive manner.

(3) Genome Sequencing - Two sequencing programs including the NovaSeq™ (p.2) will help identify DNA changes in patients and discover how DNA is modified to change gene expression.

Save the dates

Race the Helix-Upstate - 3/30/19 Race the Helix-Lowcountry - May 2019

www.GGC.org/foundation

ges out ish wood.

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CLEMSON GRAND OPENING

By: Jim Melvin - edited for length by GGC Photo credit: Clemson University Relations

C lemson’s Center for Human Genetics officially opened for business in August,

celebrating with an enthusiastic gathering of supporters who met with scientists and toured the state-of-the-art facility.

The center is housed in Self Regional Hall on GGC campus with eight laboratories and several classrooms, conference rooms and offices for faculty and graduate students.

Trudy Mackay, director of the Center for Human Genetics, is recognized as one of the world’s leading authorities on the genetics of complex traits. Mackay, the Self Family Endowed Chair in Human Genetics and Professor of Genetics and Biochemistry, is a fellow of the American Association for the Advancement of Science. She has also been elected to the American Academy of Arts and Sciences, the Royal Society of London and the National Academy of Sciences.

Mackay is joined at Clemson by Robert Anholt, Provost’s Distinguished Professor of Genetics and Biochemistry and director of Faculty Excellence Initiatives in the College of Science. Anholt is also a member of the American Association for the Advancement of Science.

“Our partnership with the Greenwood Genetic Center, along with the amazing support we are receiving from Self

Graduate student, Sneha Mokashi, shows a vial of Drosophila melanogaster (fruit flies) to Mamie Nicholson of the Self Family Foundation during the open house.

Regional Healthcare and the Self Family Foundation, will allow our faculty researchers to translate their findings into tangible treatment options more quickly and efficiently,” Clemson President Dr. Jim Clements said. “The work being done here has the potential to make a huge difference in improving lives.”

Dr. Steve Skinner, director of the Greenwood Genetic Center, said that the impact of the collaboration between the two centers will be transformative for genomics medicine.

“With the research expertise of Drs. Mackay and Anholt, and GGC’s illustrious history of providing clinical care and human genetics advancements, our combined efforts will advance the understanding of human diseases and behaviors, as well as guide us toward potential treatments to improve the quality of life for those impacted by neurodevelopmental and other genetic disorders.”

MOBILE SCIENCE LAB OUTREACH Sprivate outh Carolina’s Education Oversight Committee (EOC) has entered in to a publicpartnership with GGC’s Division of Education. The EOC is providing $150,000 for

the current fiscal year to support the Center’s Mobile Science Laboratory Program. The EOC funds are specifically to help the Center deliver innovative science and technology educational experiences and exposure to career opportunities in the sciences. The funds prioritize services to students enrolled in high poverty school districts. During the 2017-18 school year, GGC’s outreach program through the Gene Machine Mobile Science Laboratory and the Helix Express van served nearly 13,000 students across SC. GGC’s education team with their poster presented at the American College of Medical To further develop best practices for the mobile laboratory program, the education team Genetics and the Mobile Lab Coalition Conference (l-r): Dillon Gary, Dr. Leta Tribble, Brooke Scott, Hannah Balentine, and Hannah Daniel attended the Mobile Lab Coalition Conference in Detroit on the campus of Wayne State University. GGC’s team joined 41 outreach programs and companies from across the US as well as two international programs. The conference was hosted by MdBio Foundation, Inc, Seattle Children’s Research Institute, and Triune Specialty Trailers. They attended sessions on developing a curriculum, maintaining a mobile lab program, working with diverse audiences, disaster preparedness and response, evaluation tools, and the use of technology. GGC also presented a poster highlighting the successes of the program over the past eight years. Hannah Balentine, one of GGC’s genetics instructors, was selected to participate in the coalition’s Website and Communications committee.

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WELCOME NEW FACULTY

Raymond Caylor, PhD, (left) joined the Greenwood Genetic Center as Assistant Director of the Molecular Diagnostic Laboratory. Dr. Caylor completed his Clinical Molecular Genetics and Genomics fellowship training at Children’s Mercy Hospital, Kansas City, MO and has extensive experience in clinical DNA sequencing technologies including whole genome sequencing.

Jessica Davis, MS, CGC, (right) came to GGC from the UT Health McGovern Medical School at Houston. She is a board certified genetic counselor with experience in prenatal and pediatric genetics. Jessica is a graduate of the Genetic Counseling Program at the University of Texas Graduate School of Biomedical Sciences. She works in GGC’s Greenville office providing general genetic counseling for pediatric and adult patients.

Laura DeLustro Beamer, PhD (left) received her Ph.D. in Clinical Psychology from East Tennessee State University. Her graduate training focused on behavioral health and integrated primary care psychology. She completed a post-doctoral fellowship at Greenville Health System specializing in the assessment of pediatric neurodevelopmental disabilities with an emphasis on autism spectrum disorder.

Her graduate research focused on measuring and improving quality of life for parents of children and youth with autism spectrum disorder. Dr. Beamer is based in GGC’s Greenville office.

A STAR IN OUR MIDST

Warren with GGC patient, Ash Huffman Photo credit: Laura Brown for SO magazine

Hannah Warren, MS, CGC, a clinical genetic counselor in GGC’s Greenwood office, has been named a 2018 Under 40 Star by the Greenwood Chamber of Commerce. The award is given annually to young professionals in Greenwood who demonstrate excellence, creativity and initiative in their profession, are involved in the life of the community, and serve as role models among their peers, both personally and professionally.

Hannah was recognized for her excellence in the clinic, working with families in both pediatric and cancer clinics. Her nominator Fran Annese calls Hannah ‘the patient whisperer’ as she has a unique ability to calm nervous children as well as their anxious parents during what are often long and stressful visits.

She is GGC’s go-to resource for cancer genetics questions and is always eager to learn new skills and jump into special projects including clinical trials.

Hannah’s community work includes volunteering each year with the Greenwood Community Theatre’s Penguin Project, a theatre experience for children with special needs.

KRABBE DISEASE AWARENESS In October, GGC facilitated a meeting between families, legislators, GGC faculty, the SC Department of Health and Environmental Control, and Hunter’s Hope Foundation to discuss Krabbe disease. Krabbe disease is one of a group of genetic disorders known as leukodystrophies that cause deterioration of the white matter, or myelin, in the brain. There is no cure; however, treatments may provide improvement if the condition is diagnosed early.

Representatives from Hunter’s Hope Foundation, an organization started by NFL Hallof-Fame quarterback Jim Kelly and his wife after their son, Hunter, was diagnosed with Krabbe disease, visited GGC in October. Foundation CEO and Hunter’s grandmother, Jacque Waggoner, shared their family’s story and how Hunter’s Hope assists those impacted by Krabbe and related disorders. The meeting, which included two Upstate families recently impacted by Krabbe disease, discussed the process and challenges in bringing Krabbe disease testing to all newborns in SC. Dylan’s Law, a bill to fast-track this testing through the system is set to be introduced in the SC legislature in 2019. It is named for a local infant who passed away from Krabbe disease in October.

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TRANSLATIONAL RESEARCH MEETS CLINICAL CARE

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eurodevelopmental disorders such as Rett syndrome, Fragile X syndrome, and autism spectrum disorder have been long-standing areas of interest for GGC faculty.

The Center’s translational research team, based in the Greenville office has expanded both clinical care and research opportunities for patients with these diagnoses.

Rett Syndrome

GGC, a Rettsyndrome.org Clinical Research Center of Excellence, continues its participation in the NIH-sponsored Rett Syndrome Natural History Study. Now in its 14th year, this project has provided valuable information related to the clinical, behavioral, and molecular features of Rett syndrome, leading to a better understanding of this rare disorder as well as successful clinical trials. Plans are underway for GGC to participate in several upcoming drug trials for Rett syndrome.

GGC also began a multidisciplinary clinic for children with Rett syndrome which is held every other month at Shriners Hospital for Children in Greenville. Adult patients are followed in our GGC clinical offices.

Carrie Buchanan, MD of GGC’s Greenville office is one of four researchers in the US to receive a $125,000 training grant from

Rettsyndrome.org to support her research into behavioral manifestations of Rett syndrome, particularly anxiety. Rett syndrome expert, Dr. Alan Percy, a neurologist from the University of Alabama, has joined GGC’s team as a Senior Genetics Scholar to mentor Dr. Buchanan.

Visit GGC.org/Rett for more info

Fragile X Syndrome

GGC has developed Fragile X syndrome clinics for both children and adults which include behavioral management.

GGC is also a participating site for FORWARD (Fragile X Online Registry With Accessible Research Database), a multisite observational natural history study affiliated with the Fragile X Clinical and Research Consortium. FORWARD acts as a research hub to connect patients to current projects. In addition, the Greenville office is a site for the current Zynerba treatment trial (p.4).

Visit GGC.org/FragileX for more info

Autism

GGC has also instituted autism diagnostic clinics and is working with several outside organizations on independent trials to improve behavioral outcomes, prevent autism prenatally, as well as to develop treatments based upon personalized metabolomic profiles in collaboration with Swiss company, STALICLA. The Center also continues to pursue the development of a screening blood test for autism in collaboration with Circa Biosciences.

Above: GGC’s Translational Research Team (l-r): Carrie Buchanan, MD, Aubin Tierney, Jennifer Stallworth, MS, CGC, and Laura Beamer, PhD.

GGC CULTURE The Greenwood Genetic Center Board of Directors recently approved and formally adopted the Center’s Cultural Statement The following statement reflects the overarching ideals that the Greenwood Genetic Center and its employees strive to embody in every encounter and every professional duty. This is not meant to be an exhaustive list of GGC attributes, but to highlight those that are at our core – those we do not compromise and those that guide us as we live out our mission.

Care and Compassion

Our first priority as an organization is to provide compassionate care to the patients and families we serve. Care and compassion are at the core of our organization’s very existence.

With persistence, and to the best of our abilities, we ensure that the needs of our patients are met. Our drive to excel is fueled by the desire to improve the health and lives of our patients and their families and the well-being of our employees.

Respect and Integrity

We act with integrity and honesty in everything we do. We treat each other with respect and value the contributions of all members of the GGC team. All patients, providers, educators, and students are treated with that same respect.

We are professionals who are committed to working as a team in the best interest of those we serve.

Quality in Service

We are here to improve the lives of others. We strive to maintain the highest quality in genetic medicine, research, and education to meet the needs and exceed the expectations of those we serve. We are always open to methods of improving the services we offer, and welcome collaboration and sharing of information for the good of those we serve. We are driven to innovate and advance genetic technologies and provide patients with access to the highestquality services.

Keep an eye on our website www.GGC.org and social media pages to keep up with all of the latest news.

The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetic services, diagnostic laboratory testing, educational programs and materials, and research in the field of medical genetics.

106 Gregor Mendel Circle Greenwood, SC 29646

106 Gregor Mendel Circle Greenwood, SC 29646

www.GGC.org

Tel: 864-941-8100 Toll Free: 888-442-4363