Greenwood Genetic Center - Winter 2019 Newsletter

Winter 2019

A Newsletter for the Friends of the Center

Jeremiah's Story How GGC's telemedicine program and advanced diagnostic testing are giving him a fighting chance

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re WheCOMPASSION p.

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Genetic counselors provide information, hope and support to families

INSPIRES p.

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Miss SC teams up with GGC to promote STEM education

www.GGC.org

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PROGRESS p.

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State supports project to advance clinical services and diagnostic technologies

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STATE INVESTS IN IMPROVING GENETIC SERVICES, DIAGNOSTICS

A s the field of genetics and genomics grows and technology

The diagnostic yield of current genetic testing varies widely depending on the patient's clinical findings. For example, in patients with intellectual disability, current testing provides an answer in 60% of cases, that number drops to 40% for patients with birth defects, and to 20% for those with autism spectrum disorder.

changes, new challenges emerge that require a shift in the way things are done. GGC is meeting this challenge head on through a large-scale innovative project that has received significant support from the state of South Carolina.

Through the SC Department of Disabilities and Special Needs, GGC has received a total of $2.75 million in state funding this year, including $750,000 in recurring dollars, to support a Centerwide initiative named TGEM - Technology and Genomics Enhancing Medicine.

The ultimate goal of TGEM is to transform the delivery of genetic services and testing.

"With TGEM, we have a three-year goal to leverage these novel technologies in a systematic way to increase each of these yields by 20%," added Skinner.

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"This project aims to address several issues that not only GGC, but all providers in the genetics community, face on a daily basis," said Steve Skinner, MD, GGC's Director and the lead of the TGEM project. "With a shortage of clinicians, patients are experiencing unacceptable wait times of up to 9 months, and even once patients are seen, our current level of technology is only able to identify a diagnosis in around half of the patients we see."

Part of TGEM's focus is to improve the access to and efficiency of clinical genetic services. Under the leadership of GGC's Director of Clinical Services, Mike Lyons, MD, a modernization effort has already begun to streamline the entire process from referral, through information intake and into the visit itself - all while maintaining or even improving patient satisfaction and quality of services.

Another part of TGEM involves the validation and utilization of novel technologies capable of increasing the diagnostic yield.

Autism Autism

Autism

Birth defects Birth defects Birth defects

citizens, especially those with special health care issues," shared SC Senator Floyd Nicholson, District 10 (left), a longtime GGC supporter. "We expect that our investment in this project will benefit South Carolina and the world in ways that are dramatic and life-changing."

"We have some lofty goals with TGEM," shared Skinner. "But with this investment from the state of South Carolina, and the technology and innovation that already exist at GGC, we are confident that this project will improve patient care and ultimately lead to more, better, and faster diagnoses - the first step in treating genetic disorders."

Intellectual Intellectual Disability Intellectual Disability Disability

Current Current Projected Current Projected Projected

A common threads that runs through all of TGEM's initiatives is the challenge of handling all of the data - how to integrate the patient's clinical information with the large amounts of data generated by new testing technologies to arrive at a diagnosis.

In 2018, Kevin Farren joined the Center as the Director of Data Integration and Management. In this role he is working to improve efficiency of programs across GGC, as well as to find solutions to integrate data generated through many diagnostic testing platforms.

"The amount of data generated through tests like whole exome sequencing is staggering," said Farren. "In order for these technologies to be clinically useful in identifying a patient diagnosis, testing data must be integrated with clinical data to identify diagnostic patterns."

The GGC team is already employing machine learning and artificial intelligence platforms (see p. 5) to assist with bioinformatic analysis on current whole exome sequencing, a test that generates a great deal of data, but is still only 2% of the data that whole genome sequencing creates (see right).

"Technologies such as whole genome and RNA sequencing hold tremendous promise in identifying the cause of genetic disorders that can't be found through currently used methodologies," "The state of South Carolina is grateful for said Mike Friez, PhD, Director of the work that GGC does every day for our GGC's Diagnostic Laboratories.

DNA Sequencing Whole Exome vs Whole Genome The human genome is comprised of 3 billion base pairs, made up of four chemical bases (ACGT) that are the blueprints for life. Testing to determine the sequence of all 3,000,000,000 letters is called whole genome sequencing (WGS).

Whole exome sequencing (WES), which GGC currently offers as a clinical test, sequences the coding regions, or exons, of each of the approximately 20,000 genes. However, much of an individual's DNA is not found within those exon regions of the genes. In fact, whole exome sequencing only analyzes 2% of the whole genome, or around 60,000,000 base pairs.

One of the challenges of WGS is that the function and significance of much of the other 98% of DNA remains unknown. This makes interpreting whole genome results challenging. Through TGEM, by integrating the DNA code identified by WGS with the clinical patient data, we can better predict the meaning of those DNA changes for our patients.

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MCGEE EARNS BIOINFORMATICS HONOR GGC Bioinformatics Specialist Stephen McGee has been awarded the 2019 Susan R. Patterson Professional Development Award in Bioinformatics and Computational Genomics by the GGC Foundation. The award was established by Dr. Walt Patterson, Lander University Professor Emeritus of Mathematics, in memory of his wife.

McGee, who joined GGC’s faculty in 2010, earned a Master of Science in Bioinformatics at the University of North Carolina – Charlotte and is currently pursuing his PhD in Biomedical Data Science and Informatics from Clemson University. McGee was GGC’s first bioinformatics specialist.

The annual award recognizes the efforts of an individual at GGC whose primary professional role is to support and develop the bioinformatics and computational genomics work performed at GGC. “The challenge of interpreting the complex data of our patient population at GGC is both formidable and exciting,” said McGee. “We are driven by not only striving for accuracy in our analyses, but also by providing meaning to the test results so that we can improve our understanding and the quality of life for the families that we aim to help.”

'ALL IN' FOUNDATION GRANT AWARD GGC was awarded a $5,000 grant from Dabo's 'All In Team' Foundation to support patients of GGC's Metabolic Treatment Program.

The Foundation, started by Clemson University football coach, Dabo Swinney and his wife, Kathleen, supports programs that raise awareness of critical education and health issues in order to change lives of people across the state of South Carolina.

Many patients in GGC's Metabolic Treatment Program rely on strict dietary management, such as low protein diets, to remain healthy. Such restrictions often take the form of prescription formulas and supplements and expensive medical foods, as well as equipment to measure and monitor food intake. Compliance with these measures is vital to preventing serious complications of their disease including intellectual disability, seizures, and even death.

The GGC award will be used to create a fund to help offset some of these expenses incurred by families that are not covered by insurance. Interim Director of the GGC Foundation, Boo Ramage, accepted the award at a luncheon at Memorial Stadium in early November (pictured above).

STEVENSON RECOGNIZED BY SC SENATE

In April, GGC co-founder and senior clinical geneticist, Roger E. Stevenson, MD, was honored with the prestigious David L. Rimoin Lifetime Achievement Award in Medical Genetics at the American College of Medical Genetics and Genomics (ACMG) annual meeting in Seattle.

To further celebrate this significant national award, Senators Floyd Nicholson (right) and Mike Gambrell (left) introduced a resolution in the SC Senate to recognize this achievement. Nicholson and Gambrell presented the resolution to Stevenson in September in front of his GGC colleagues and family.

“It’s so important that people know that people from our state are making contributions that affect people throughout the entire world,” said Nicholson. “The research that Roger has been involved with has impacted so many lives, to make people’s lives better.”

Sen. Gambrell added, “We can’t say enough about Dr. Stevenson, what he’s done here and what this facility means, not only to the state of South Carolina, but also to the United States and the world.”

Stevenson accepted the resolution and addressed comments to his colleagues. “Anytime recognition comes to an institution like this, you have to realize that we are standing on the shoulders of scientists, researchers, and clinicians who have gone before and paved the way. But we don’t usually get to meet and know them,” said Stevenson. “But there is a group that I got to meet and know, and that’s this group. That’s what this institution is about – all of the work that you do allows this recognition to come the Center.”

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JEREMIAH’S FIGHT MOTHER CREDITS GGC WITH PROVIDING HOPE Shannon Bell, Telemedicine and Genetic Service Coordinator in GGC's Florence office (right) talks with Aneesa as Jeremiah sleeps.

WHAT IS A MITOCHONDRIAL DISORDER?

If you don't remember anything else from high school biology, you likely recall learning that the mitochondria are the powerhouses of the cell.

Mitochondria are organelles within each cell that produce the energy required for normal body functions. What many people don't remember is that the mitochondria have their own DNA, separate from that found in the cell's nucleus. For these organelles to produce energy for the cell and thus, for the body, the mitochondria require proteins that are made by both the DNA in the nucleus and the DNA in the mitochondria.

Mitochondrial disorders occur when a mutation is present in one of the genes, either in the nucleus or the mitochondria, that interfere with the organelle's energy production. These disorders are rare and have extremely variable presentations, often making them difficult to diagnose.

Jeremiah's diagnosis of mitochondrial DNA depletion syndrome, type 2 is caused by a mutation in both copies of a nuclear gene called TK2. This genetic change prevents him from being able to produce adequate amounts of mitochondrial DNA, thus energy production in the cells is low. Low cellular energy results in progressive muscle weakness which can impact eating, breathing, and general strength and movement.

P lay peek-a-boo with 9 month-old Jeremiah Licorish of Florence, and

you'll be rewarded with a huge grin that lights up both his and his mother's faces.

But this family has been through the unthinkable over the past few months, with very few reasons to smile.

At first things were going well.

Jeremiah was a happy, healthy newborn, doted on by his mother, Aneesa, and his three big brothers.

But when Jeremiah was around 5 months old, Aneesa noticed changes in her youngest son's development that worried her.

"He started to get weaker," she shared.

"He went from holding his head up to being more slumped and not having any neck control. He stopped reaching for things and wasn't interested in eating - taking only two ounces of milk."

His pediatrician wasn't initially alarmed, thinking he was just being a lazy baby, but Aneesa knew something wasn't right. She began advocating for her son, first getting an appointment with McLeod Pediatric Rehab for physical therapy. "As soon as we got there, they said he needed more than physical therapy. He needed to see a neurologist and geneticist as soon as possible."

Aneesa reached out to GGC through the Center's website and received a call the next morning from Shannon Bell, Telemedicine and Genetic Services Coordinator in GGC's Florence office.

A typical appointment can take weeks

or even months and for some families requires travel, but Bell was able to get Jeremiah scheduled with a telegenetics appointment close to home for the next day.

"Through telegenetics, we met Dr. Clarkson who examined every inch of Jeremiah - from how his arms were not moving, to his floppiness, and even his little webbed toes," recalled Aneesa.

Katie Clarkson, MD, is a GGC clinical geneticist who provides telegenetics consultations for patients from her office in Pennsylvania. She considered several tests, but with a long list of possible diagnoses, she suggested whole exome sequencing, a diagnostic test looking for mutations in the coding regions of all 20,000 genes. Because of Jeremiah's rapid regression, the test that typically takes 10 weeks for a result was fast-tracked

by GGC's Diagnostic Laboratory, and an answer came in fewer than three weeks.

Ray Louie, PhD, Assistant Director of GGC's Molecular Laboratory, analyzed Jeremiah's exome results using a new platform involving artificial intelligence (see p. 5), which quickly identified two changes in the TK2 gene. This gene is known to cause mitochondrial DNA depletion syndrome, type 2 also called TK2 deficiency.

TK2 deficiency is a disease that progresses quickly, causing muscle weakness, problems with chewing, swallowing, and breathing, loss of motor skills, and slowed mental

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development. Seizures and hearing loss can also develop.

Jeremiah is one of only 107 known cases of TK2 deficiency, and he's the first African-American male to receive this diagnosis.

Bell recalls sharing the test results with the family, "We always dread giving bad news, but Aneesa was so thankful that we listened to her and found out so quickly. Through her tears, she just kept saying 'thank you'. I couldn’t help but to cry with her."

Aneesa was devastated with the diagnosis, but recalls that getting the rapid diagnosis "meant everything."

"With a baby with a progressive disorder, time is of the essence. Getting the results in a timely manner and being able to connect to resources can literally save his life."

Once the diagnosis set in, and "I stopped crying," said Aneesa, "I decided to devote the rest of my life to helping with rare diseases."

She began exhaustive research into this rare diagnosis, finding nothing but grim information online. Then she connected with another TK2 family and was introduced to Dr. Michio Hirano at Columbia University who is conducting a clinical trial on this rare disorder.

By the time a routine whole exome test result would have been reported,

Jeremiah had a diagnosis, and he and Aneesa had made the long journey to New York City to enroll in Dr. Hirano's study.

Jeremiah is now receiving the study medication.

Aneesa's hopes for the trial are that "this treatment turns into a cure and opens up avenues to help other people with rare diseases."

"In Jeremiah's case, we were able to mobilize the GGC team across the clinical and diagnostic divisions to get to the diagnosis as fast as possible, which was critically important for Jeremiah," said Clarkson.

"With our lab's ability to expedite the results and through the use of telegenetics, Jeremiah was able to enroll in this trial earlier and with greater hope for an improved outcome."

Aneesa's advocacy for her son has caught the attention of over 1,000 followers of the Facebook page, Jeremiah Gracen TK2Warrior, that she set up just a few days after the diagnosis was made.

The page, which was created to increase awareness of this disorder as well as to raise funds to help Jeremiah participate in the clinical trial, has also been a source of comfort for Aneesa. She posts frequently, sharing Jeremiah's ups and downs. Each post demonstrates her strong faith, and she always finds a way

Aneesa routinely massages and manipulates Jeremiah's muscles to enhance his physical therapy.

to connect Jeremiah's story of battling a rare disease to the daily struggles faced by many others.

Aneesa recalls that during the appointment where the results were disclosed, there was a very determined black bird knocking on the window of the office. Aneesa found significance in what to most would have been a simple annoyance. To her this experience symbolized persistence even when faced with what seems to be an insurmountable barrier. She likened it to "being able to knock on the right door, and never giving up despite the barriers in your way."

AI COLLABORATION IMPROVES CARE

GGC’s Diagnostic Laboratories have developed a collaboration with Emedgene, an Israeli-based company that provides an automated platform using artificial intelligence (AI) to analyze genetic test results, like those performed on the NovaSeq 6000 DNA sequencing instrument in GGC's Molecular Diagnostic Laboratory (pictured below).

Analyzing genetic tests, and in particular, whole exome sequencing (WES), is a time-consuming and labor-intensive effort performed

by GGC’s lab directors, bioinformaticists, and molecular specialists.

“Whole exome sequencing routinely identifies genetic changes or variants that are not immediately clear as to their clinical significance,” said Julie Jones, Director of GGC’s Clinical Genomic Sequencing Program. “Until recently, our analysis process required us to review dozens of variants for each patient including manually searching for newly discovered gene-disease connections in databases and scientific journals.”

Emedgene’s platform uses AI advanced technologies that help prioritize these variants and provides access to an up-to-date database of gene-disease associations, leading to a shorter analysis time.

The partnership with Emedgene has allowed GGC to reduce the time required to analyze whole exome sequencing results by 75% per test.

“By using this AI platform, we can review these variants faster, providing important answers to families much sooner than before,” said Ray Louie, PhD, Assistant Director in the Center's Molecular Diagnostic Laboratory. "Emedgene's machine learning simplifies the highly complex task of variant analysis, allowing us to handle more tests every day."

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GENETIC COUNSELORS

Improving patient care through education and support it is even better when The American Board of Genetic Counseling recently reported that there are we can offer specific now 5,000 certified genetic counselors - a big milestone for a growing profession!

The Greenwood Genetic Center employs 13 of these healthcare professionals across its statewide network of offices, but who are they and why is their role so important?

Genetic counselors are healthcare providers who function as a vital part of the care team for patients with genetic disorders.

Genetic counselors have earned a Master's degree in genetic counseling where they are educated in the science of clinical genetics, as well as receive training in the areas of counseling, family support, and communication skills.

Genetic counselors are certified through an examination by the American Board of Genetic Counseling. Certification must be renewed every five years through continuing education. Licensure for genetic counselors is available in some states. South Carolina currently has a genetic counseling licensure bill in the state legislature.

In their traditional clinical roles, genetic counselors provide education and support and serve as an important resource for families who are often facing very challenging situations. “Genetic counselors are integral to quality patient care at GGC, communicating vital information to families," said Mike Lyons, MD, Director of Clinical Services.

"They are skilled at a wide range of activities such as gathering and reviewing complex medical histories, generating and discussing detailed family pedigrees, conveying difficult news with compassion, explaining complicated test results, sharing useful resources, and providing ongoing support for patients and families.�

"As a genetic counselor, my role is to work to understand the science and then use that knowledge to help our patients apply available genetic testing and treatments to their specific needs," shared Jennifer Stallworth, MS, CGC, a genetic counselor in GGC's Greenville office.

"For patients with rare diseases, finding a medical provider who has even heard of their condition is very valuable, and

support resources and information that is useful to their family."

"Genetic counselors are well-trained in medical genetics, communication, providing education, counseling, and helping families get connected to the medical services and social supports that they need," said Katy GGC's team of genetic counselors Drazba, MS, CGC of Seated L-R: Hannah Moore, Jennifer Stallworth, Jessica Davis, Lori Bassett, Katy Drazba.

GGC's Columbia office. "I Standing L-R: Angie Lichty, Robin Fletcher, Brooke Smith, Amy Dobson, Kellie Walden, Julia use some, if not all, of these Russo, Camerun Washington, and Anna Childers. skills with each patient and and clinical trials. "I enjoy being involved family that I work with. I truly enjoy the in clinical trials because genetic knowledge team-based approach at GGC to provide and options for treatment of genetic high-quality care for our patients and their disorders are continually advancing. I am families." learning something new every day."

As the field has grown, so have the opportunities for genetic counselors to use their skills in other areas of genetics.

Drazba noted that she has expanded her clinical role as part of GGC's telegenetics program, "While I did not have specific training for telemedicine while in school, I have learned to adapt to and utilize new technologies to help improve and expand our telemedicine program. I have to maintain the comprehensiveness of genetic counseling through our telemedicine appointments, but also do my best to make them engaging for families."

Robin Fletcher, MS, CGC is a laboratory genetic counselor in GGC's Diagnostic Laboratories.

"After 15 years as a clinical genetic counselor and seven years in education, I turned my focus to laboratory technologies," said Fletcher. "I serve as a liaison between the GGC Diagnostic Laboratories and our network of referring physicians, genetic counselors and other healthcare providers, making sure their patients are receiving the best testing options that we have to offer."

Stallworth has transitioned from a prenatal genetic counselor into the field of research

GGC and Genetic Counselor Training

In the early 80s, when genetic counseling was still a very new field, it was difficult to recruit genetic counselors from the few programs scattered around the US. Genetics colleagues from the University of South Carolina School of Medicine (USC SOM), GGC, and the Medical University of South Carolina collaborated in 1985 to develop the first genetic counselor education program in the southeast, and only the 10th in the nation. Fast forward 35 years later, the USC SOM program is now considered an historic program, as one of 46 in a field that is rapidly growing.

GGC continues to play an active role in the educating the program's graduate students through lectures, clinical rotations, laboratory experiences, and thesis research mentorship.

"We are so grateful to GGC for their continued commitment to our program," said Janice Edwards, MS, CGC, Director of the USC SOM program. "Over 225 genetic counselors have benefited from this long term collaboration, and the impact in South Carolina, the southeast and nationally is exponential."

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Rett Clinical Trials

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ett syndrome has been a focus of interest and research at GGC for over two decades. The NIH Natural History Study research teams, including the one at GGC led by Dr. Steve Skinner, have uncovered vital information about how this syndrome impacts the individuals who are diagnosed, as well as their caretakers. GGC, a Rettsyndrome.org Clinical Research Center of Exellence, has been working diligently with collaborators around the globe as well as with Rettsyndrome.org towards developing treatments, and eventually a cure.

That hope has been renewed recently, as GGC is currently participating in three separate clinical trials for patients with Rett syndrome across all ages.

GGC clinicians remain actively involved in the NIH-funded Rett Syndrome Natural History Study, and continue to enroll and follow patients through that protocol to develop a deeper understanding of the genetic and clinical features of this rare disease. Many patients involved in that study are also eligible to take part in one of the other clinical trials.

A 12-week, Phase 3 study of trofinetide, a compound that has shown great promise in improving symptoms of Rett syndrome is underway at GGC through Acadia Pharmaceuticals. Trofinetide has been granted Fast Track Status (for drugs that meet a critical and unmet need) and Orphan Drug Designation (for drugs that are designed to treat rare diseases) in the US. GGC was part of the Phase 2 trials of this drug.

GGC is also actively enrolling patients with Rett syndrome into a 24-week

Phase 3 study on the efficacy and safety of cannabidiol oral solution in reducing symptom severity. This randomized, double-blind placebo-controlled trial through GW Research, Ltd. is for individuals age 2-18 years with a confirmed mutation in MECP2, which is the most common gene that causes Rett syndrome.

The third trial is a seven-week study specifically designed for adults with Rett syndrome. Through Anavex Life Sciences Corp., GGC is investigating ANAVEX2-73, an oral compound. This study is co-sponsored by Rettsyndrome. org.

For each of these clinical trials, patients and their families/caretakers visit GGC regularly throughout the duration of the study to engage in clinical evaluations, assessments and questionnaires to assess any changes in behaviors or symptoms.

Fran Annese, GGC's Clinical Research Coordinator and Clinic Manager shared her excitement with the progress. "This is the first time we have been able to offer clinical trial options to patients with Rett syndrome across all ages. We are optimistic that the work being done here at GGC and by our collaborators at other research organizations around the world will lead to effective treatments for these individuals and their families, and we are proud to be a part of this progress."

Photo: Mikayla Henry, 6, proudly holds the South Carolina Rett Syndrome Awareness Month Proclamation during her sister, Maddie's clinical trial visit to GGC in October. Maddie, 3, has Rett syndrome. Purple is the official color for Rett syndrome awareness.

L-R - Will Burns, MD, Hannah Moore, MS, CGC, Steve Skinner, MD, Kevin Henry (dad), Mikayla, Maddie, Stefanie Henry (mom), Annese, Jennifer Cox, and Georgia Miller.

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Hope For 22q13

n 1988, then-GGC Cytogenetics Director, Katy Phelan, PhD, published a report of a newborn with low muscle tone who was missing the end of chromosome 22, specifically the area designated as 22q13. The patient later expressed global developmental delay and atypical facial features. This syndrome was named PhelanMcDermid syndrome (PMS).

Ever since this discovery, GGC has played a leading role in the PMS community, improving the understanding of this disorder through an active research program as well as serving as a hub for family support.

Senior Clinical Geneticist, Curtis Rogers, MD and Assistant Research Scientist, Luigi Boccuto, MD, lead the PMS program at GGC and are widely regarded as two of the world's leading experts in this condition which is thought to be present in approximately 1% of individuals with autism.

In October, which is Phelan-McDermid Syndrome Awareness Month, a group of parents in Canada hosted the 2nd 'Hope for 22q13 Gala' in Montreal. This event raised both awareness of PMS as well as funds for research. The organizers of the event chose the Greenwood Genetic Center to receive a research grant from the event. Rogers and Boccuto were both in attendance at the gala.

"Our Phelan-McDermid research program at GGC is committed to better understanding all of the genes involved in this condition and how they contribute to the clinical features," said Boccuto. "We believe that by highlighting the role of all the genes that may be involved in this condition, we can design a better treatment for each patient."

Genevieve Chevalier, mom to Anthony, age 5, helped to organize the event. "We have to have hope - hope for a cure, and we hope that they're going to be able to find something one day."

Photo above : L-R Sue Lomas, President and Founder of the Phelan McDermid Syndrome Foundation, Boccuto, Phelan

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GENE WEEK 2019

Education took center

stage during annual week of genetics-focused events

If you wanted to learn more about GGC's Division of Education, you had no further to look than Gene Week 2019.

The annual celebration of all things GGC took place during the first week of October on the Greenwood campus.

Science on Tap October 1

On Tuesday, October 1, GGC hosted Science on Tap in the Genetic Education Center. Science on Tap is a bimonthly community lecture series in Greenwood that aims to educate the community about scientific advances in our area. During Gene Week each year, GGC leads the local event.

Dr. Leta Tribble, Director of Education, presented 'Genes and Gasoline: STEM Education on the Road.' Attendees learned about the history and progress of GGC's Outreach Education Program.

Dr. Tribble shared that the program reaches approximately 13,000 students each school year with the goals of improving genetic literacy and career exploration in the life sciences.

Following her presentation, guests had the opportunity to try their hand at micropipetting and constructing a karyotype, as well as taking a virtual reality tour of a cell - activities just like students experience during Gene Machine and Helix Express visits.

VIP Reception October 3

On Thursday, October 3, GGC's Division of Education was again on display with a VIP reception for GGC donors and stakeholders in STEM education.

The event featured Morgan Nichols, Miss South Carolina 2019, who is a recent graduate of Clemson University with a

Morgan Nichols, Miss SC 2019, shares her platform 'Stronger with STEM' at GGC's VIP reception and tries out the virtual reality exercise (inset)

degree in genetics. Nichols' pageant platform for her year as Miss SC is 'Stronger with STEM,' an initiative to promote career development for the life science, technology, engineering and mathematics fields.

Morgan's early career plans were to work for ESPN, that was until she had a visit from the Gene Machine during her junior year of high school.

"Going on the Gene Machine in AP Biology really sparked my interest and catalyzed me to go into genetics at Clemson. I still remember to this day learning how to use the micropipettes.

I'll never forget it," she said.

Nichols shared that as an intern with SCBio, she has had the opportunity to meet with leaders of life science industries across SC, and she always heard the same message - their main pain point is workforce.

10th Year ON THE ROAD SScience eptember found the Gene Machine Mobile Lab hitting the road to begin it’s 10 th

school year of outreach education. The Gene Machine and newer Helix Express cargo van started the school year with a nearly full schedule for the 2019-20 school year. Only a few open dates remain and those are expected to fill as the year goes on.

GGC’s Division of Education also started the school year with two new instructors, Zach Bowens, a graduate of Erskine College, and Ashley LaVerdure, a graduate of NYU, who joined the team over the summer and are sharing their genetics knowledge with students and teachers all over the state.

This challenge is "capping the unlimited growth potential that these companies could experience," shared Nichols. If we could ultimately meet this workforce demand for the life science industry here in SC, then we are going to grow this industry, not only boosting our economy, but also enhancing the our quality of life."

"We were thrilled to have Morgan join us for Gene Week," said Tribble. "Her focus on STEM education aligns perfectly with our mission and outreach program to prepare our students for success and grow our workforce in this exciting field."

GGC’s Genetics Instructors celebrate the first day of the Gene Machine's 10th school year. L-R: Hannah Daniel, Dillon Gary, LaVerdure, and Bowens

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Another highlight of the evening came from Missy Codington, a science teacher from Laurens Academy who invites the Gene Machine to visit her students every year.

Codington was inspired to go into biology through the mentorship of her 7th and 10th grade science teacher who had previously worked for GGC and often shared his passion for the field.

She enrolled in one of GGC's summer teacher courses to learn more about genetics and how to better apply those principles in her classroom. She said that during that course "they took us outside to show us the mobile lab, and I was in awe of what it could accomplish."

Codington invited the mobile lab to her school the following year and each year since to work with students in 7th, 10th and 11th grades and called the program a "real blessing" allowing students to "think like a scientist and apply what they have learned to a real-life work situation."

8 year-old Judah Farrow excitedly completes his first 5K at Race the Helix. Inset - Geoff Rhyne, with daughter, Ella Marie, shares his family's GGC experience after the race.

the mobile lab really piqued my interest in genetics which lead me to do the summer camp at GGC . That made me realize that I want to study genetic counseling.”

She also shared comments from former students who recognized the value in their exposure to the mobile lab "able to go into college labs from day one, more confident and better prepared to use the equipment."

Following the program, guests were able to tour the Gene Machine and participate in activities as if they were students onboard the bus. They isolated their own DNA, learned about chromosome analysis, and enjoyed virtual reality exercises.

Codington also introduced Zachary Mullinax, a current Laurens Academy junior who has plans to study genetics after exposure to GGC's outreach program.

Race the Helix - Greenwood October 5

“When I started high school I really had no idea what I wanted to do as a career, but

As always, Gene Week concluded with Race the Helix - Greenwood. This year, the intense summer heat was replaced by a cool crisp fall

morning for the 9th annual 5K race and 1 mile walk.

With nearly 400 walkers and runners and a record number of sponsorships, both from local businesses as well as national and international companies across the industry who support the Center's mission, this year's event was the largest to date.

The Rhyne family (above inset) served as this year's honorary race hosts. Ella Marie, 2, was diagnosed with Kleefsta syndrome by GGC earlier this year. Her father, Geoff, spoke with attendees after the event, "We are incredibly thankful for the team at GGC for not only helping us identify this rare syndrome, but to also lifting us up as we move forward! GGC has become family and an integral part of Team Ella."

FIRST CITIZENS GRANT F

irst Citizens Bank pledged $30,000 over three years to help support GGC's popular and engaging mobile science laboratory program First Citizens Bank of Greenwood employees, Matt Howard, VP and Business Banker; Lisa Sanders, Senior VP; Lynne Elliott, Mortgage Banker; and Jerry Stevens, Senior VP and Market Executive, stopped by GGC in August to present the first $10,000 installment of their pledge. They also received a tour of the Gene Machine which is in its 10th year of visiting middle and high schools across SC.

L-R: Howard, Sanders, Elliott, and Stevens present the First Citizens gift to representatives of the GGC Foundation and

“GGC has always held STEM education as a priority as we encourage our next generation of Division of Education clinicians and scientists,” shared Skinner. “Our outreach programs reach students at schools across our state with activities that foster enthusiasm for science, and First Citizens’ gift will help us make sure that we can continue to offer these engaging programs at no cost to schools.”

First Citizens' past gifts to GGC have included funds to support the telegenetics program and sponsorship of the Center’s Gene Week public educational and awareness events.

“GGC offers so many worthwhile and life-changing initiatives, and First Citizens Bank is excited to continue to support their amazing work,” said Stevens. “These educational opportunities, which the mobile labs make available to all schools in SC, are inspiring students and guiding them toward fulfilling and important careers.”

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GGC FACULTY ATTAIN CERTIFICATION Following years of graduate education and months of test preparation, the only hurdle between genetics professionals and certification in their specialty field is a test. Three GGC-affiliated professionals have worked hard, studied hard, and have attained this professional goal.

Congratulations to...

Camerun Washington, MS, CGC (far left), a genetic counselor in GGC’s Greenville office who earned certification through the American Board of Genetic Counseling; Raymond Caylor, PhD (near left), Assistant Director of GGC’s Molecular Diagnostic Laboratory who is now certified by the American Board of Medical Genetics and Genomics (ABMG) in Clinical Molecular Genetics; and Eric Bend, PhD (right), Molecular Specialist at Prevention Genetics in Wisconsin, who earned certification by ABMG in Clinical Molecular Genetics. Dr. Bend completed GGC’s Medical Genetics Training Program in Molecular Genetics in 2018.

NEW BOARD MEMBERS GGC welcomes two new board members to its leadership team. Holisa Wharton, PhD (left) of Lander University has been named to the Center’s Board of Directors, and Lonza’s Christen Davis (right) joins the GGC Foundation Board of Trustees.

Dr. Wharton currently serves as Dean of the William Preston Turner School of Nursing at Lander University in Greenwood. She is a registered nurse with an MS in Nursing Education and a PhD in Healthcare Genetics from Clemson University. Dr. Wharton has a long-standing research interest in the genetics of prostate cancer.

Davis is the Director of Quality for Lonza in Greenwood. She studied Business Administration and Management at Erskine College. She has previously served as Chair of Keep Greenwood County Beautiful.

“We are very pleased to have Dr. Wharton and Ms. Davis as part of the leadership of GGC and the GGC Foundation, respectively,” said Steve Skinner, MD, Director of GGC. “They each bring a fresh perspective and an enthusiasm for advancing the mission of the Center.”

TRAINING FUTURE GENETICISTS

L-R: Fang, Ziats, Gass, Butler, Gardner, and Burns

There is a critical nationwide shortage of clinical genetics providers with little relief in sight. On average about half of all clinical genetics residency slots go unfilled each year. GGC is pleased to have filled both of our slots in 2019 with the addition of Drs. Will Burns and Catherine Ziats in July. Dr. Burns completed his residency in pediatrics, and Dr. Ziats joined GGC from a neurosurgical residency program. They are based in the Greenville office and will have extensive clinical exposure, complete laboratory rotations and participate in research projects. Laura Gardner, MSPAS, PA-C is enrolled in a Metabolic Advanced Practice Provider Fellowship designed to prepare a nurse practitioner or physician assistant to assist in the diagnosis and medical management of individuals with lysosomal storage disorders (LSDs).

GGC is also doing its part to train future laboratory geneticists. With the recent addition of a three-year Laboratory Genetics and Genomics (LGG) Fellowship which combines cytogenetics and molecular genetics specialties, GGC has a trainee at each stage of the program. Jennifer Gass, PhD is in her third year of training, Kameryn Butler, PhD is in year two, and in July we welcomed Alice Fang, PhD as our current first year fellow. Each trainee receives intensive laboratory instruction and experience in the daily operations of a lab. In addition they gain valuable exposure to clinical genetics, and work on several research projects during their training.

Greenwood Genetic Center 11

IN MEMORIUM

Richard J. Simensen, PhD 1934-2019

Richard J. 'Dick' Simensen joined

GGC in 1976, as the Center's first neuropsychologist.

In 1954, Simensen enlisted in the US Army, serving in both Japan and Korea.

Following his military service, he graduated from Keene Teachers College and taught public school for four years.

He earned an MS and PhD from the University of Maryland and served for seven years as a professor of special education. Simensen then completed a postdoctoral fellowship in neuropsychology at Tufts-New England Medical Center in Boston.

At GGC, Simensen used his skills in the clinic to evaluate children and adults with neurological disorders, developmental delay, and intellectual disability.

His talent for efficiently evaluating the cognitive ability and adaptive functioning of patients of all ages allowed rapid integration into GGC's clinical and research activities.

Simensen soon became an essential member of the Center's research team headed by Dr. Charles Schwartz.

The team focused on the clinical and molecular understanding of intellectual disability caused by abnormalities of the X chromosome.

Simensen traveled with the GGC team throughout North America evaluating families participating in research studies including the original families with Allan-Herndon syndrome from the United States and

WELCOME NEW FACULTY GGC is fortunate to attract talented individuals who work hard each day to advance our mission.

Renpenning syndrome from Canada.

Simensen authored or coauthored over 100 articles that were published in the professional literature and presented the team's work at meetings across the US, Canada, and Europe. He also found professional satisfaction as a faculty member of the Family Medicine Residency Program at Self Regional Healthcare, serving as coordinator of Behavioral Sciences for two decades. He retired from GGC in 2009.

Anna Childers, MS, CGC joined GGC’s Greenville office in July from Vanderbilt. She is a Wofford College graduate and earned her Master’s in Genetic Counseling from USC School of Medicine.

She provides genetic counseling for both pediatric and adult patients.

GGC cofounder and Ravenel Boykin Curry Chair in Genetic Therapeutics, Roger Stevenson, MD, shared, "Dick had a gift for efficiently and correctly assessing a patient's level of cognitive functioning after just a few minutes of evaluation. His initial assessment was always confirmed after hours of neuropsychological testing by other specialists."

Holly Crozier, MS, RD, LD is GGC's newest metabolic dietitian based in the Greenville office. Holly provides medical nutrition therapy, nutrition assessment and follow-up for individuals with inborn errors of metabolism. She earned an MS in Nutrition Science from Indiana University and joins GGC from Riley Children's Hospital in Indianapolis.

“Dick had an innate ability to be welcomed by members of any family we visited. Many times he would conduct his assessments at the kitchen table," said Schwartz. "He would often complete his work way ahead of the rest of us and would then jump in to assist his slower team members."

Dr. Simensen passed away in June at the age of 85 leaving his wife of 55 years, Helen Raysor Prickett Simensen, two children, Erik and Sunna, two grandchildren, Margaret and Alex, and many friends and GGC colleagues to cherish his memory.

Dr. Simensen's family requests that donations in his memory be made to the Greenwood Genetic Center Foundation, Babcock Center Foundation, or another charity of choice.

Benjamin Hilton, PhD joined GGC in July as Assistant Director of the Cytogenetics Laboratory. Dr. Hilton is a Clemson University graduate and earned his PhD in Biomedical Science at East Tennessee State University.

He completed his fellowship training at ARUP Laboratories at the University of Utah. Dr. Hilton oversees chromosome and microarray testing for patients with a variety of conditions including developmental delays, autism, and cancer.

Camerun Washington, MS, CGC joined GGC’s Greenville office in August.

A Winthrop University graduate who recently completed his Master’s in Genetic Counseling from Virginia Commonwealth University, Camerun counsels pediatric and adult genetics patients.

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