Greenwood Genetic Center Newsletter - Winter 2017

Where Compassion Inspires Progress

Fr

i e n d s

o f

t h e

Technology Expansion - p.4

C N

e n t e r

e w s l e t t e r

Winter 2017

Clemson Center for Human Genetics names Director and Self Family Chair - p.3

The Helix Express - p.10

2 | GREENWOOD GENETIC CENTER

Forward Facing The Greenwood Genetic Center was founded on two over arching principles - principles which have guided our development, expansion and priorities to this day. The first is the responsibility to provide the highest-quality, most compassionate care to anyone who seeks our services. The second is that GGC should always stay at the forefront of genetic technology and advancements.

To us, these are not separate goals. They are complementary, and the fulfillment of the first depends in great part on our ability to achieve the second. We cannot keep our promise of providing the highest-quality clinical care, without being able to offer our patients the latest in diagnostic testing technology and treatments.

50% - That’s a number that has been haunting us. With all of the clinically available technologies at our disposal, we are still only able to provide a definitive diagnosis for approximately 50% of patients we see with intellectual disability or birth defects.

The diagnostic rate for autism is even lower at around 20%. To us, that is unacceptable. How are we to provide the best care, the latest treatments, and hope, unless we are able to identify the cause? Well, we have a plan.

This year, we are launching a new initiative called TGEM (Technology and Genomics Enhancing Medicine - p.4). The goal of TGEM is to be able to increase our diagnostic rate from 50% to 70% within three years. How is that possible, given that the rate has remained unchanged for decades? Well, we have a unique approach.

Technologies are being developed at a rapid pace; however, the application of those technologies has been sporadic and uncoordinated. With TGEM, we propose a systematic approach to patients utilizing all of the available technologies combined with an integrated analysis of the data generated by these technologies to discover answers that have eluded us using standard approaches. The discovery and diagnostic capabilities of TGEM, combined with the expert and thorough clinical evaluation by our genetic counselors and clinical geneticists, will help us find genetic changes that we previously have been unable to see, along with better interpretation of what those changes mean. The ultimate goal of TGEM is to find answers for our patients and their families, empowering them with knowledge and hope. This is a lofty goal and will require dedicated collaborations and funding partners, but we see it as a necessity that will enable us to better fulfill our mission.

Breakthroughs in diagnostic technologies are not the only big advancements we are pursuing. Clemson and GGC have pulled off a coup by recruiting one of the most renowned geneticists in the world with the addition of Dr. Trudy Mackay as the new Director of the Clemson Center for Human Genetics (p.3). Dr. Mackay and her husband, Dr. Robert Anholt, are bringing their impactful and prolific laboratory to Greenwood next year, and we look forward to sharing in their successes as they study the genetics of human behavior and move us even closer to treating a wide array of genetic disorders.

Growth is also apparent in our Division of Education with the addition of new funding, a new mobile science van and new educational programs (p.10). We are also making progress with the marketing of the GGC Partnership Campus, the development of new clinics, and expansion of telegenetics (p.5). With the talent in place here at GGC, the addition of new talent through Clemson University, and guidance from a recently completed internal strategic business plan, we are boldly moving forward - making advances for our field, our institution, and most of all, our patients.

I hope you will enjoy the information shared in this newsletter, and on behalf of the entire faculty and staff of the Greenwood Genetic Center, we thank you for your continued interest in and support of our efforts.

Keep watching, we have exciting things in store!

Steve Skinner, MD Director

GREENWOOD GENETIC CENTER | 3

Clemson Names Director Groundbreaking geneticist Trudy Mackay is named director of Clemson’s Center for Human Genetics and Self Family Foundation Endowed Chair in Human Genetics.

Mackay/Anholt Photos courtesy NC State University

In October, Clemson University’s College of Sciences announced the hiring of the first two faculty for the Center for Human Genetics on the campus of GGC. Trudy Mackay, PhD, will direct the Center and has been named the Self Family Foundation Endowed Chair in Human Genetics in Clemson’s department of genetics and biochemistry. She is currently a Distinguished University Professor and Goodnight Innovation Distinguished Chair of Biological Sciences at North Carolina State University.

“I am very intrigued by the new Center for Human Genetics and its partnership with the Greenwood Genetic Center,” said Mackay, “This opportunity fits well with my own research and provides a unique opportunity to collaborate with fellow geneticists who are studying important diseases that affect human behavior and communication.”

The Center for Human Genetics, which is part of the College of Science, is housed in Self Regional Hall, a 17,000-square-foot building that opened in February 2017 on the GGC campus.

Mackay, whose numerous accolades include being a member of the prestigious National Academy of Sciences and the Royal Society, will be accompanied by her husband, Robert Anholt, who will join Clemson as a Provost’s Distinguished Professor in the department of genetics and biochemistry.

In addition to the myriad of professional opportunities, the dynamic duo was attracted to Clemson and Greenwood for personal reasons.

Their love of horses – and of “carriage driving,”

in particular – found a natural fit in the scenic woods and trails of South Carolina’s interior.

Under the leadership of Mackay and her seasoned team of scientists, the Center’s partnership with GGC will have a heightened ability to quickly and efficiently translate basic research into tangible treatment options.

“Doctors Mackay and Anholt are game-changers for Clemson as we build a world-class College of Science that is both locally relevant and globally impactful,” said Cynthia Young, dean of the College of Science.

Robert Jones, Clemson’s executive vice president for academic affairs and provost, concurred. “This is very exciting news for Clemson University and our partners at GGC. Trudy and Robert are nationally renowned researchers and teachers in the area of complex genetic control of human traits and behaviors. Their work is showing us new ways to gauge susceptibility to diseases and develop new therapeutics to improve health.”

“We are thrilled with this major step forward in the development of our collaboration with the Clemson Center for Human Genetics,” added Steve Skinner, director of GGC. “The excellent records of scientific scholarship of both Dr. Mackay and Dr. Anholt promise to lead the Center toward advancements in understanding complex disorders that will ultimately benefit the field of genetics, as well as patients worldwide. We look forward to a fruitful partnership.”

Frank Wideman, president of the Self Family Foundation, agreed. “We are very excited about the selection of Dr. Mackay as the Self Family Foundation Endowed Chair. She is a perfect fit for both Clemson University and the Greenwood Genetic Center, and we look forward to having her and Dr. Anholt in Greenwood.”

“Having a National Academy of Sciences member leading the Clemson University Center for Human Genetics at the Greenwood Genetic Center Partnership Campus is an incredible hire and addition to the lauded genetics research already being done in our community, “ said Heather Simmons Jones, CEO of the Greenwood Partnership Alliance. “We look forward to working alongside them as we grow our genetic and life sciences cluster.”

Both Mackay and Anholt will officially start their new positions at Clemson University on July 1, 2018, but they will begin transitioning their labs this spring. Once fully on board, they will be based in Greenwood but will split their time between Greenwood and Clemson.

4 | GREENWOOD GENETIC CENTER

Cytogenetics Laboratory Director, Dr. Alka Chaubey in the Microarray Lab

A ‘GEM’ of a Technology The field of genetics has always depended upon technological advancements.

GGC is leveraging this technology in new ways to ensure the best for all of our patients.

TGEM Technology and Genomics Enhancing Medicine In the 43 years since GGC was founded, we have seen tremendous advances in genetic and genomic testing capabilities. In 1974, our technologists were cutting chromosome images apart with scissors and manually arranging them into karyotypes. Today we are scanning nearly 7 million chromosomal loci to find very small variations that contribute to a patient’s condition. The advances have been truly amazing, yet many of our patients still remain without a diagnosis.

“We have more technologies at our disposal today than ever before, so we find it unacceptable that patients are still struggling with the diagnostic odyssey - going from specialist to specialist and having test after test leaving them with no clear answers, no plans for treatment and no hope,” said GGC Director Steve Skinner.

called TGEM, Technology and Genomics Enhancing Medicine, which is an initiative to leverage all available technologies in the search for answers for undiagnosed patients.

Skinner said the goal of TGEM is to increase GGC’s diagnostic yield by an additional 20% in the next three years.

TGEM is a comprehensive testing strategy to be made available to a wide variety of patients from newborns to adults - patients for whom current testing methodologies haven’t provided answers. GGC is in the process of employing several of the following new testing strategies: • • • • • •

To address these challenges, GGC has developed a novel program

Whole Genome Sequencing to identify pathogenic changes throughout the coding and regulatory regions of the genome.

Array testing to find novel and recurrent copy number variants.

RNA transcriptomics to assess how gene changes affect global expression patterns.

DNA structural variant analysis to identify changes that are undetectable with current array or sequencing technology.

Metabolomics to create a profile of small molecules and identify diagnostic patterns and targets for treatment.

Proteomics to understand how the body’s proteins are built and function together.

GREENWOOD GENETIC CENTER | 5

•

Clinical artificial intelligence/big data to use algorithmic analyses to synergize these new genomic technologies increasing diagnostic capacity.

GGC’s Biochemical Genetics Lab has been using tandem mass spectrometry for many years, which is useful in identifying and quantifying a limited number of targeted small molecules. The emerging field of metabolomics expands this understanding by assessing all of the small molecules that exist in the body.

Metabolomics measures these small molecules and develops a profile that can help to diagnose a disorder as well as identify pathways that may be suitable targets for treatment. GGC has recently acquired a high resolution mass spectrometer (HRMS) known as an Orbitrap to assist in these studies (cover photo).

“Mass spectrometry has revolutionized the way metabolic disorders are diagnosed,“ said Dr. Rahul Deshpande, Mass Spectrometry Specialist at GGC. “However, our new HRMS system is a huge leap forward allowing us to analyze and distinguish between over 400 compounds with a much improved resolution.

We are starting to be able to identify a larger number of abnormalities in various metabolic pathways and better define what those results mean.

GGC’s microarray lab has also begun employing these new technologies.

GGC was an early testing facility for the new XON array platform from Thermo Fisher Scientific. Dr. Alka Chaubey’s microarray laboratory has run over 50 samples using the new assay and she says it will serve as a critical tool to efficiently move her clinical research forward.

Skinner said that TGEM is a broad and unique approach to diagnosis. “We are thrilled to be leading the way in delivering these new technologies to the benefit of our patients and families.”

TELEGENETICS GGC continues to expand its telegenetics services under the leadership of telegenetics director, Dr. Mike Lyons of GGC’s Charleston office. GGC began its telegenetics initiative in 2016 to improve wait times and access for patients, particularly in the PeeDee region of SC where a full time clinical geneticist was not available; however, the use of the technology has expanded to include several GGC offices as well as residential facilities and even the occasional home consultation.

“Our program has been very well received by both patients and clinicians,” said Lyons. “Wait times are down, and patients have reported general overall satisfaction with telegenetics consultations.”

Further surveys are planned to provide more data on patient and provider satisfaction as well as a cost-benefit analysis of the service.

Earlier this fall, clinical geneticist Dr. Katie Clarkson who has headed GGC’s Columbia office since 1993, announced that she would be moving to Pittsburgh temporarily while her husband completes seminary training.

Just a year ago, that would have been devastating to GGC’s clinics and patients. With the scarcity of clinical geneticists, the position would be hard to fill and that would have required clinicians from other offices to travel to Columbia -

efficiency would suffer and patients would be left waiting longer.

But now, with the Center’s telegenetics program, Dr. Clarkson is able to see patients from her home office in Pennsylvania - still providing the highest level of service that GGC patients have come to expect.

“I was a bit nervous about how well it would work,” shared Clarkson. “But the resolution on the screen and the quality of the instruments makes it feel as if I’m right there in the room with the family.”

A bonus she says is that kids like to see themselves on TV, so often they are more engaged and easier to evaluate via telegenetics than they might be in person.

Another reason the telegenetics clinics are running so smoothly is the capable staff on the other end of the connection with the patient.

Jennifer Lynch, GGC’s Telemedicine Coordinator, has completed training to become a Certified Telemedicine Clinical Presenter through the National School of Applied Telehealth.

Lynch and the Florence team currently manage the patient side of the encounter for all telegenetics patients seen through the Florence office.

“Our goal is to have a certified presenter available in every GGC office to maximize the potential of the technology and improve the efficiency and convenience of genetics services,” said Lyons.

“The initial data that we have seen from this new array is just phenomenal,” Chaubey said.

“This platform is like nothing else on the market in that it will give us comprehensive coverage of the deletions and duplications and can have that data available to us in less than five days.”

GGC transitioned its custom array testing to the new platform in November becoming the first lab to offer this new technology in the clinical setting.

Dr. Katie Clarkson evaluates Benjamin Mims, 5, a patient in GGC’s Florence office, from her office in Pittsburgh, with assistance from Certified Telemedicine Presenter, Jennifer Lynch.

6 | GREENWOOD GENETIC CENTER

Friends of the Center As 2017 comes to an end, we graciously thank all of you - our donors, sponsors, and friends who have generously shared your time and gifts with GGC and those we serve.

FRIENDSHIP FORCE

The GGC Foundation was thrilled to host visitors from Calgary Canada’s Friendship Force International program in September. Bill and Elaine Epstein, who had toured GGC before, are members of the SC group and coordinated the visit. The 33 guests heard an introduction to GGC from Dr. Steve Skinner and an overview of GGC’s autism research by Dr. Luigi Boccuto followed by a tour of the research and diagnostic laboratories (pictured right). It was a wonderful opportunity to share GGC with international friends and build relationships that transcend borders. To learn more about Friendship Force International visit www.thefriendshipforce.org

FIRST CITIZENS AND COUNTYBANK GIFTS

GGC is honored to be supported by many local, national and international organizations. Through direct gifts and event sponsorships, the business community reaches out and impacts so many GGC patients each year.

Countybank has made a five year commitment to honor GGC employees by matching their GGC Foundation gifts up to $20,000 per year. They were on hand at a statewide meeting in January to present their second gift (left). In September, the First Citizens Bank Foundation presented the GGC Foundation with $10,000 as part of their three-year gift to support the Center’s telegenetics program (right).

GENE WEEK SPONSORS A special THANK YOU to our generous 2018 Gene Week event sponsors. Please thank and support all of these businesses and individuals who made these events possible:

Jammin’ for Genes

Self Regional Healthcare (Presenting), Greenwood County Community Foundation (Music), Ballentine Ford (Antique Cars), Sykes (BBQ), First Citizens Bank (Lawn), Buzhardt’s Trash Service, Little Pigs BBQ, and Sunny 103.5 (Genetic Melody Sponsors)

Race the Helix

BioMarin, Illumina, Mutual of America, Thermo Fisher Scientific, Frank and Cathy Witney (Presenting Helix); The Ariail Family, Countybank, McDonalds of Greenwood, Shire, Stockman Oil and Sykes (Helix Gold); Manley Garvin, LLC (Walk the Helix); Greenwood Regional Rehabilitation Hospital, and Sanofi Genzyme (Educational Booth); Ascend, Carolina Health Centers, First Citizens Bank, Drs. Jeffrey and Robin Lanford, and Self Regional Healthcare (Helix Silver); Carolina Automotive Repair, Digestive Disease Group, Starbucks, and Western Carolina Oral and Maxillofacial Surgery (Shenal Family Sponsors)

For more information on how you can support the Center through the GGC Foundation, visit GGC.org or contact the Foundation at (864) 388-1813 or 1-888-442-4363.

GREENWOOD GENETIC CENTER | 7

Gene Week - 2017

1

2

4

3

5

1. Felix Bend enjoys some bluegrass at Jammin’ for Genes 2. Dr. Mike Friez presents at Science on Tap 3. Dr. Luigi Boccuto explains GGC’s autism research to guests at Open House 4. Noah Buff, Holden Poole Micah Turner, Eli Vahjen and Noah Vahjen are ready for Race the Helix 5. Heather Kellis is escorted across the Race the Helix finish line by her cheerleaders!.

GGC ushered in fall with a week full of fun, learning and community engagement with the second annual Gene Week benefitting the GGC Foundation.

GGC kicked off the week on Saturday, September 30 with the 4th annual Jammin’ for Genes BBQ and music festival on GGC’s campus. Over 200 attendees enjoyed wonderful food and bluegrass from the very talented Little Roy and Lizzy Show. A patient art exhibit and antique car show added to the festivities.

On Tuesday, October 3rd, Dr. Mike Friez, Director of Diagnostic Laboratories at GGC, presented Science on Tap, a bimonthly educational lecture series hosted by GGC. Dr. Friez shared the latest on genomic technologies and discussed how those technologies are impacting medicine today .

GGC opened its doors to the general public for the Center’s first ever Open House event on Thursday October 5th. Dozens of interested individuals including GGC Foundation donors, patient families, and area science students stopped by to visit the Greenwood campus, tour the facilities and talk with faculty.

The culmination of Gene Week 2017 was the 7th annual Race the Helix 5K race and 1 mile run/walk. With the largest crowd in Race the Helix history, nearly 300 walkers and runners descended upon campus for some friendly competition and family fun. A bit of drizzle didn’t seem to dampen the festivities as young and old alike came together to raise awareness and funds for the GGC Foundation. For the first time, the 1 mile walk was free to all participants thanks to the Walk the Helix sponsor, Manley Garvin, LLC. “Gene Week is a marvelous opportunity to raise awareness of the mission of the Greenwood Genetic Center and the Foundation throughout our community, all while having fun and sharing a little about genetics,” said Lori Bassett, GGC’s Head of Communications.

Gene Week 2018 is planned for September 29-October 6.

8 | GREENWOOD GENETIC CENTER

GGC’s Under 40 Star, Melissa Cook, in the Research Lab

Our Greatest Assets Where would GGC be without the talented, compassionate people who make up our team?

They give their best each day for their colleagues, their patients and their field.

UNDER 40 STAR

Melissa Cook, a laboratory technologist in the JC Self Research Institute, was recognized by the Greenwood Chamber of Commerce as an Under 40 Star. The award recognizes young professionals in the Greenwood area who excel in their professions, act as role models to others, and serve their community.

She was honored at the Under 40 Stars luncheon in early December.

Melissa is an active volunteer in the Greenwood and GGC communities. In addition to being class mom at her daughter’s school, she also gives her time as a childcare provider at South Main Baptist church, volunteers for Relay for Life, is on the planning committee for the Festival of Flowers, and spends time working with the United Way of Greenwood and Abbeville Counties, where she led GGC to become a Pacesetter organization.

Melissa has also teamed up with the Blood Connection to organize quarterly visits to the GGC campus by the Blood Mobile. She became involved in this organization after seeing the need for blood donation within her own family and she wanted to make it easier for employees to give.

Melissa, a graduate of the Chamber’s Leadership Greenwood

program, was nominated for this honor by her former student and current coworker in the research lab, Sarah Dunn.

“When I was a student volunteer, Melissa noticed that I was struggling and immediately helped walk me through some of my experiments,” shared Dunn. “She works so hard to create a cohesive environment in our workplace and I admire her for that.”

“I truly believe that people like Melissa are the people that will change the world,” said Dunn.

SCHWARTZ STEPPING DOWN

Charles Schwartz, PhD recently stepped down as Director of Research for the JC Self Research Institute in Human Genetics at GGC.

Dr. Schwartz joined GGC in 1985 as the first director of the molecular laboratory. In 1996, with the completion of the JC Self Research Institute, he took over as Head of Molecular Studies, and was promoted to Head of Research and Director of the Institute in 2004.

Dr. Schwartz’s esteemed career is noted for his expertise in identifying genes causing X-linked intellectual disability, of which

GREENWOOD GENETIC CENTER | 9

he is an internationally renowned scholar.

He has authored nearly 350 scientific papers as well as coauthored a dozen books on molecular technologies and X-linked intellectual disability syndromes.

Dr. Schwartz is also actively involved in several foundations, notably the Christenson Syndrome Association and the SnyderRobinson Foundation, working with families and other scientists to better understand these rare disorders and find effective treatments.

In the fall, Dr. Schwartz relinquished his position as Head of Research, trading in much of the administrative and planning responsibilities to return to a role as Head of Molecular Studies, with a continued focus on research.

A search committee has begun to identify potential candidates for the open position as Head of Research and Director of the JC Self Research Institute.

“Dr. Schwartz has contributed in immeasurable ways to the both the success and culture of the Greenwood Genetic Center in his 32 years of tenure,” said Dr. Steve Skinner, GGC Director. “His shoes will be incredibly difficult to fill and we are grateful for his talent, his leadership and his commitment to our patients.

RETT SYNDROME UPDATE

Dr. Walter Kaufmann, Director of the Center for Translational Research and the Ravenel Boykin Curry Chair in Genetic Therapeutics, has edited a new book, Rett Syndrome, part of the Clinics in Developmental Medicine series published

by Mac Keith Press. This volume, aimed at both clinicians and researchers presents a comprehensive overview of Rett syndrome including a clinical review, topics in clinical genetics and neurobiology, and possible future treatments. The book is available from Mac Keith Press as well as Amazon.

Dr. Kaufmann has also been traveling extensively to present on a variety of topics related to Rett syndrome including the very promising results of a recent phase II clinical trial of trofinetide by Neuren

Pharmaceuticals. He has presented recently at the Rare Disease and Orphan Products Breakthrough Summit of the National Organization for Rare Disorders, the American Academy of Child & Adolescent Psychiatry Annual Meeting, both in Washington, DC, and the European Rett Syndrome Congress in Berlin.

A phase III clinical trial on trofinetide has been approved by the FDA and is under development.

FRAGILE X CLINIC ESTABLISHED

GGC has joined the Fragile X Clinical & Research Consortium (FXCRC) and has become an approved clinic and study site for FORWARD (Fragile X Online Registry With Accessible Research Database).

Researchers are using the FORWARD data to gain insights into Fragile X, including in the areas of cognition, adaptive behavior, language development, motor skills, behavior, social functioning, and quality of life. The work is supported by the Centers for Disease Control and Prevention and the National Fragile X Foundation.

Any GGC patient with Fragile X syndrome is eligible to be involved in the clinic and the FORWARD database. Additionally, all family members are eligible to participate in the FORWARD registry. Katy Drazba, MPH, MS, CGC, a genetic counselor based in the Florence office, is coordinating the Fragile X clinic and will enroll patients and their families. The home site for the clinic and study is the GGC Greenville office; however, travel funding reimbursement is available for families traveling from outside the Greenville area. Clinic visits and study enrollment are also available at other GGC locations. For more information regarding the Fragile X clinic and FORWARD, visit www. ggc.org/FragileX or email fragilex@ggc.org.

CERTIFIED!

GGC welcomed genetic counselor, Julia Russo, MS, CGC, to the Greenville office in July where she provides pediatric and adult genetic counseling services. Julia is a member of the National Society of Genetic Counselors and became certified by the American Board of Genetic Counseling in August.

Fatima Abidi, PhD, Technical Director in GGC’s DNA Diagnostic Laboratory, achieved certification by the American Board of Medical Genetics and Genomics (ABMGG) in Clinical Molecular Genetics. ABMGG is the body that credentials and certifies individuals who provide clinical services in medical genetics.

Dr. Abidi joined GGC as a postdoctoral research fellow in 1995 and was a research staff scientist until 2012 when she began her clinical molecular fellowship. Dr. Abidi reviews and interprets molecular diagnostic tests, writes clinical reports, and participates in the development of new testing technologies and procedures.

Four other graduates of GGC’s Medical Genetics Training Program also achieved ABMGG certification.

Kasia Ellsworth, PhD, who completed both a molecular and biochemical fellowship at GGC, has achieved double ABMGG certification in both Clinical Molecular Genetics and Clinical Biochemical Genetics.

She is Associate Laboratory Director at the Genomic Institute at the Rady Children’s Hospital in San Diego, CA. Ray Louie, PhD, a 2016 graduate of GGC’s fellowship program, is ABMGG certified in Clinical Molecular Genetics. He works for GeneDx as a Senior Clinical Scientist.

Abbas Padeganeh, PhD, completed a fellowship at GGC in 2016 and is now ABMGG certified in Clinical Cytogenetics.

Dr. Padeganeh is currently Associate Director of Cancer Cytogenetics at City of Hope in Duarte, CA. Catie Spellicy, PhD, completed a laboratory fellowship in Clinical Molecular Genetics and Genomics at GGC earlier this year and is now ABMGG certified in Clinical Molecular Genetics. In July, she joined Mission Fullerton Genetics Laboratory in Asheville, NC as a Clinical Molecular Geneticist.

10 | GREENWOOD GENETIC CENTER

The Helix Express GGC’s Division of Education is expanding with new equipment, partnerships and opportunities to bring the field of genetics into the classroom and into the future.

STATE FUNDING SUPPORTS OUTREACH The South Carolina Department of Education has joined with the Greenwood Genetic Center to allocate proviso funding of $278,000 to support students and teachers in South Carolina in gaining access to learning via outreach education for students and professional development for teachers. The funding is provided specifically to enhance opportunities for schools in the underserved plaintiff districts of the Abbeville lawsuit.

Also, the SC Education Oversight Committee (EOC) has granted GGC’s Division of Education $250,000 to extend outreach programming and acquire the Helix Express - a partner to the Gene Machine. This cargo van arrived on campus in late October to allow expansion of the Division’s outreach educational programs.

With a specific focus on underserved schools across our state, the Helix Express allows an instructor to transport laboratory equipment to the school for use within the classroom. The van will allow GGC to visit more schools during the year, eliminating the waiting list, and while the Gene Machine is limited to accommodating 24 students onboard at a time, the Helix Express can provide the same activities for larger classes.

The proviso funding also supports student field trips to GGC’s Greenwood campus and allows greater access for teachers in these underserved district to participate in GGC’s summer course and other professional development activities.

“These students activities provide a wonderful introduction to the technologies we use and the career opportunities available in the field of genetics,” said GGC’s Director of Education, Dr. Leta Tribble. “However, we can only be there for a day, while these teachers are impacting these students each and every day of the school year. We must prepare them to carry on with these goals once the Gene Machine or Helix Express has driven away.”

“The funding provided by the State Department of Education and the EOC will provide opportunities for more students and teachers than have been reached before,” said Ray Wilson, PhD, former director of Western Piedmont Education Consortium. “It is a step forward for SC in meeting its obligations of providing high quality educational services to all of its students and teachers.”

SC Superintendent of Education, Dr. Molly Spearman emphasized the importance of the partnership. “Today’s job market requires students have a strong knowledge of and passion for STEM,” said Superintendent Spearman. “By partnering with the Greenwood Genetic Center, we will be able to bring additional STEM based learning opportunities to students and show them in a fun and creative way the endless possibilities that a STEM education brings.”

NEW AND INNOVATIVE OPPORTUNITIES GGC welcomed 24 high school students in July for the first annual Junior Genetics Scholars Summer Camp. The week long event offered talks, tours, shadowing opportunities and lab experiences for students exploring a career in genetics and genomics.

The Division of Education’s long running summer teacher courses received an overhaul this year. For the first time, the course was provided in an online hybrid format. Teachers completed the lecture portion of the course online and at the end of the summer, participated in a two day hands-on laboratory workshop. The format received rave reviews and the 2018 summer course, BIO 614, Contemporary Topics in Human Genetics, will follow a similar format. Registration for the 2018 course will begin in January.

GGC also received a grant from the SC Commission on Higher Education’s Improving Teacher Quality program in collaboration with Clemson University’s Department of Mathematics.

GGC hosted “Exploring the Mathematics of Genetics” in July providing didactic instruction and laboratory activities for 32 teachers from Abbeville county schools, Greenwood school districts 50 and 51, and Anderson school district 3.

In August, GGC hosted the first SC Autism Conference for special education administrators and teachers. The meeting was cosponsored by the SC Department of Education, the SC Education Oversight Committee and Project HOPE Foundation.

Attendees heard from GGC scientists about the current state of autism research and Project HOPE staff provided information on a variety of issues including communication and therapeutics. Talks from the conference can be viewed on GGC’s You Tube channel.

GREENWOOD GENETIC CENTER | 11

Guevara First Recipient of Susan R. Patterson Award The Helix Express joined the Gene Machine on the road in November. GGC’s Outreach Education team (L-R) Hannah Crawford, Brooke Scott, Dillon Gary, and Dr. Leta Tribble Students from Marlboro County High School enjoy a visit from the Gene Machine

Junior Genetics Scholars complete a summer camp lab activity

Jose Guevara of San Jose, Costa Rica, has been awarded the 2017 Susan R. Patterson Professional Development Award in Bioinformatics and Computational Genomics

by GGC. Guevara, who became visually impaired in 2014 while enrolled in Clemson’s graduate program, will complete his PhD in Biochemistry and Molecular Biology from Clemson University in December. He has completed much of his graduate work at GGC under Dr. Charles Schwartz and has been funded by the Center. Upon graduation, he will return to his homeland to teach bioinformatics at the University of Costa Rica.

Teachers explore the Mathematics of Genetics

The award supports ongoing professional education and development for faculty and staff at GGC who are involved in bioinformatics work. Guevara used funds from the award to travel to Las Vegas and present his research at BIOCOMP17, the 18th International Conference on Bioinformatics and Computational Biology sponsored by the American Council on Science and Education. He presented work done under Schwartz and Clemson’s LJ Wang, PhD on protein modeling. His research takes a computational approach to predict the impact of a genetic mutation on protein stability.

Guevara was the only visually-impaired presenter at the meeting.

Instructor Dillon Gary works with teachers during the summer course lab workshop

“We often find genetic changes in our patients, but are sometimes limited in our understanding of what those changes actually mean - if they are disease causing or simple benign variations,”said Schwartz.“Jose’s work is helping provide a method for us to better interpret the functional impact of these changes, providing families with more information and scientists with better targets to treat.”

Dr. Walt Patterson, Professor Emeritus of Mathematics, Lander University, established the Susan R. Patterson Professional Development Award in Bioinformatics & Computational Genomics through a gift to the Greenwood Genetic Center Foundation in memory of his wife, Susan. The award serves to honor and perpetuate her lifelong devotion to the field of education in mathematics. Susan was also passionate about supporting families and children faced with genetic disorders who are served by GGC.

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