Imagining a Vision for Genetic Medicine

Over 4 decades of Compassionate Care and State-of-the-Art Technology

Think about the impact of genetics on today’s healthcare. You can hardly go a day without seeing news of a novel gene for a common disease or a clinical trial for a genetic disorder. Now think back to 1974 (or imagine it, if you’re under 35 J). Back then, genetics was little more than a minor medical sub-specialty, diagnosing diseases few had heard of, and with little hope for treatments or cures.


The Greenwood Genetic Center (GGC) opened its doors in 1974,under the leadership of two visionary co-founders, Roger Stevenson, MD and Hal Taylor, PhD, and with two guiding principles – offer the best most compassionate care and provide state-of-the-art technology. GGC began with support from the South Carolina Department of Disabilities and Special Needs, who in 1974 had the vision that in order to prevent or treat disabilities, they must be understood. They realized, even back then, that genetics was going to provide that understanding.

Now, 43 years later, GGC still operates under those founding principles of compassion and innovation, and we still ardently work to diagnose patients with both ultra-rare and common complex disorders, but what has changed are the dramatic advances in the field of genetics led by our scientists and colleagues around the world.

Hundreds of patients each year are served by our metabolic genetics treatment program, offering proven therapies to treat or prevent serious disabilities and health issues.


Every single year, seventy babies in South Carolina are born free of birth defects of the brain and spine thanks to GGC’s Birth Defect Prevention Program.

GGC’s commitment to providing hope for families impacted by genetic disorders has led to the creation of the Center for Translational Research, which is leading the way in developing clinical trials.

Researchers at GGC are working to fundamentally transform the diagnosis of autism with the development of a blood-based test and work toward treatment trials.

GGC’s Division of Education provides outreach genetic education to students from middle school through post-graduate training, encouraging students to pursue careers in the sought-after and highly rewarding field of medical genetics.

In 1974, few people would have imagined the fundamental changes in medicine that would occur thanks to the field of genetics. Dr. Stevenson and Dr. Taylor imagined it. The South Carolina Department of Disabilities and Special Needs imagined it. And because of them, two generations have now benefitted from compassionate clinical care, enhanced diagnostic testing, cutting-edge research, and innovative educational programs.

The Gene Scene will share the stories of families, scientists, and innovations that have made these past 43 years so exciting, so rewarding, and so impactful, and are making the future so promising. Welcome to The Gene Scene.

So You Want to Become a Genetic Counselor?

How did I get there?

I have been asked many times over the years how I became interested in genetic counseling. For me, the lightbulb moment came while I was in high school.  Early on, I had thought about several different future careers, including something in the healthcare field, but then I developed a special interest in genetics during my second year of biology and decided that I wanted to pursue some type of career in this field.


I started looking at colleges that offered genetics as a major, and it all clicked one day as I was visiting my future alma mater.  While touring the school, I had the opportunity to meet with a professor in the Genetics Department, and he shared a booklet with me that described many different careers one could pursue with a genetics degree, one being genetic counseling.

As I read through this information, I learned that:

a genetic counselor is a health care professional who works closely with individuals who are undergoing evaluation and testing because there is concern for a possible underlying genetic condition, and they help to provide education and support to these individuals and their families during this process.


I was intrigued that genetic counselors could work with a variety of patients, including pediatric and adult patients, and they could practice in both the clinical and research settings.  I quickly realized that genetic counseling would be the perfect fit for me given my affinity for genetics and my interest in working in healthcare.  The rest, as they say, is history.


Well, there were actually a few more steps in there.


To practice as a genetic counselor, one must complete a Master’s training program.  Most genetic counselors enter their training program with an undergraduate degree in a biological science and/or psychology.  There are currently 37 accredited Master’s training programs in the US and several outside the US. Most programs have a two year curriculum along with a thesis requirement. The second year of the program is typically spent in clinical rotations where the student gains experience in seeing patients while being supervised by certified genetic counselors.  Once in practice, most employers require that a genetic counselor pass the board certification exam administered by the American Board of Genetic Counselors and maintain certification through completion of continuing education.


Because admission to a genetic counseling Master’s program can be competitive, I always encourage interested students to investigate several different programs to ensure they understand all of the prerequisites and suggest that they consider applying to multiple schools. Observation with a genetic counselor and volunteer work in a related area are also very helpful experiences when applying to graduate schools for genetic counseling.  The Greenwood Genetic Center offers a summer internship program in which undergraduate students can spend time in one of our clinical settings and learn about the field of genetic counseling. I was very fortunate to have this opportunity when I was in college and can say that this experience not only helped reinforce my decision to become a genetic counselor, it was also invaluable to me as I prepared to apply to graduate schools.


How can I learn more?

If you have interest in the genetic counseling profession, please reach out to a genetic counselor in your local area to learn more about opportunities that may be available for shadowing and observation.  We are happy to share our stories and answer your questions. You can find a local genetic counselor along with a wealth of other information at the National Society of Genetic Counselors’ website. The American Board of Genetic Counseling also has great information about the profession and Master’s training programs.


Good luck!

Brooke Smith

A Medical Mystery Revealed – a New Syndrome

“I was born almost like everyone else, but without knowing there was a small flaw in my genetics,” shared Daniel, 44. “At home, I was always treated as a normal person, a child like everyone else. It was not until the fifth year in school that I began to be a victim of bullying. This was like a kind of tunnel in my life, the years went by, and I even lost three years of high school because I did not know how to handle these emotions.”

ectrodactylyDaniel grew up alongside his family in Honduras suffering with a variety of internal medical issues including headaches and digestive problems. But it was the outward effects, including his unusual facial features that made life even more painful. Although he has dealt with the obvious effects of his condition all his life, no one had been able to identify what was causing it. Throughout his struggles, support from his family, friends, and faith helped him to persevere until they could find a solution.

Enter the Greenwood Genetic Center. Through the Center’s prior connection with medical professionals in Honduras, Daniel’s blood sample was sent to GGC for microarray analysis, to help identify the cause of his condition.

A microarray test (CytoScan HD) allows scientists to scan millions of areas of the genomes at the same time, looking for missing or extra sections. It is one of the first tests ordered on many patients and can be exceptionally helpful in unsolved cases like Daniel’s. Interestingly, Daniel’s microarray results revealed a known deletion involving chromosome 7, a deletion that causes a defect called ectrodactyly or split hand/foot malformation.

Funny thing is, Daniel didn’t have ectrodactly.

Ectrodactyly interrupts the development of the hands and/or feet. This deficiency can result in the absence of one or more of the central digits, causing them to take on a U or V shape. Sometimes digits which remain can be webbed.

Of the eight families known to have this particular deletion, only three individuals didn’t have ectrodactyly, or for that matter, any other physical issues.

So why was Daniel so affected, and in such an unexpected way?

Although Daniel didn’t have ectrodactyly, he did exhibit many other symptoms including facial abnormalities, heart problems, a spine deformity, hernias, and paranoid personality disorder. It was unprecedented for these symptoms to be present with this deletion, but without ectrodactyly. No one had ever thought to look for such a deletion before.

Even though the origin of his symptoms had been discovered, Daniel’s condition still did not match anything on record. So, in order to better diagnose patients in the future, a new name for this condition was created, Ramos–Martínez syndrome.

Though Daniel still faces struggles due to his disorder, his new knowledge that came with genetic testing has immensely improved his life. “Now I see a little more clearly and know myself much better,” he says. “I have a vital strength; I like to walk a lot, observe life, and think that even though I am not much different from what I was before starting the genetic test now I have a greater awareness of my life.”

Prior to his experience with GGC, Daniel poetically shared that he had “wandered like the people of Israel for 44 years … Like a gypsy, I went from doctor to doctor” with no one being able to properly diagnose him. Despite his turmoil, Daniel remained remarkably hopeful. “It is possible to be happy; even within my syndrome; happiness is you,” he wrote.

The Greenwood Genetic Center has made a profound impact in Honduras, a nation with few resources. For over a decade, the Center has been working in cooperation with medical professionals in Honduras, providing expertise, genetic testing, medications, and education for health care providers and patients in the impoverished nation. This relationship was started by Dr. Ken Holden, Senior Clinical Research Neurologist at GGC in Charleston, and continued by Dr. Steve Skinner through years of medical mission trips.

Recently, GGC’s Director of Research, Dr. Charles Schwartz, was invited to lecture on intellectual disability and birth defects at a Honduran medical school. It was on that trip that he met Daniel, a patient previously only known to GGC through a blood sample.

Addy Orcutt


Low protein diets in a high protein world- Part 2


Last week you learned how our metabolic patients are diagnosed and how their low protein diets are managed during infancy.

But what happens when they start solid food?

There are very few foods that are truly protein free.  You may think of fruits as protein free, however, they do have a small amount of protein.  There is protein in all vegetables as well, although some are higher than others.  Any grain based foods will also contain protein in some amount including rice, pasta, crackers, and bread.  Nuts, beans, legumes and products made with these foods are higher typically in protein than fruits and vegetables.  And of course, all animal based products including dairy items are very high in protein.  There are very few patients with protein based metabolic disorders that are allowed to have any animal product, including eggs, cheese, yogurt, ice cream or even pudding.

The base diet for these patients is focused on fruits and vegetables.  Even with foods that are lower in protein, they still need to be weighed and calculated.  The gram scale doesn’t get put away once they are a toddler.  As a child transitions off of breastmilk or formula, they will remain on metabolic formula to supplement their diet.

Think about the nutrients found in higher protein foods – iron in meat, calcium and Vitamin D in dairy, healthy fats in nuts, fiber and vitamins in beans.  If you aren’t getting those in your diet, where are they going to come from?  There are many options as children age to help maximize the supplementation of their diet with different metabolic formulas.  But they will remain on some type of formula for supplementation throughout their life.

Remember that patient with PAH deficiency?

Woman eating salad

They have done well through their infancy, levels have been maintained, they like their formula and the caregivers are excited to transition to table foods and get them off of infant formula.

We initiate solid foods as we would with any child, starting around 5-6 months old with cereal and baby foods.  The only difference is that the cereal and baby foods are weighed and provide a specific amount of phenylalanine.  The metabolic formula is adjusted to supplement the diet and provide the additional nutrients to maintain growth and development.

The caregivers become very proficient in math, calculating out daily menus that provide specific amounts of phenylalanine at every meal and snack through the day.  If a child doesn’t finish their breakfast, the amount of phe not eaten has to be added into the next snack or meal so that at the end of the day, they full amount is received.  If they leave a little or get a little extra, it usually isn’t a problem every once in a while.

The problems arise when they get too much on a daily basis and their levels are too high, or they get too little on a daily basis and they have slowed growth and development.

Communication between the team and the caregivers remains very important! 

For some of the protein disorders, the protein calculation must be even more exact, and serious complications can arise very quickly if those needs are not met.  Some of those patients go through their life with a feeding tube so that their treatment needs can be met during illness or even when they are being a typical stubborn toddler who doesn’t want to eat.  Getting too much or too little is not safe for those disorders and must be dealt with immediately with changes to their treatment plan and formula.

Yeah, but what about as they get older?

Things continue to get more complicated as a child ages.  The amount of food a 2 year old wants to eat in a day vastly changes by the time they are 10 or 12 or 16 years old.  For instance, we’ll say our patient is allowed 275 milligrams of phe a day (or 5 ½ grams of protein).  The caregiver splits this up between 3 meals and 3 snacks.  A typical breakfast for this patient provides about 25 milligrams of phenylalanine.  So our 2 year old eats 2 tablespoons of Froot Loops and 2 tablespoons of cantaloupe along with their metabolic formula.

Not too bad!  But now that 2 year old is a 12 year old who still only gets the same amount of cereal and fruit.  They are probably going to be hungry fairly soon!  How do the caregivers, and the patients, work around this?  One thing that does help is the development of specialized low protein foods that are made for metabolic disorders.  There are many options including low protein pasta, rice, bread, meat substitutes and cheese alternatives.  These foods are not sold in the store however, they must be ordered online.

And they are fairly expensive.  Here is a comparison between “regular” foods in the grocery store and the low protein equivalent that families have to order –


16 oz elbow macaroni = $1.79

16 oz box spaghetti = $1.00

2 pound flour = $1.99

White bread (18 slices) = $0.99

Chips Ahoy cookies = $3.00

8 oz shredded cheddar = $3.79

24 count American slices = $4.49

Total = $17.05

Low Protein

16 oz elbow macaroni = $13.98

16 oz box spaghetti = $9.99

2 pound “baking mix” = $13.33

White bread (18 slices) = $14.61

Sugar cookies = $13.00

8 oz shredded cheddar = $6.33

24 count American slices = $9.37

Total = $80.61

Taco bar

The low protein foods are 4 times that of regular foods in the store!  These foods can be very cost prohibitive for most families.  But if they are able to get them, they can definitely change the amount of food at a meal or snack and help make a child’s daily intake much more acceptable.

Another thing that has helped our protein patients is the increase in gluten free foods.  Gluten is the wheat protein in food so when that is taken out, it decreases the protein in that food.  Some patients are allowed enough protein that gluten free foods, which are in most stores, are part of their diet.

Dairy alternatives also help.  For instance, almond milk is very low in protein – 1 gram of protein per cup versus regular milk at 8 grams per cup.  Many patients can use these types of products to have more options for dairy type foods including cheese, yogurt and ice cream.

How do the kids react?

While the calculating and mixing and measuring and meal planning is overwhelming enough, then factor in normal psychological and social development as a child ages.

The toddler may not mind that they have “special milk” or “their pasta” or that Mom mixes up a “special cheese” for them.  A 10 year old in school who has to go through the lunch line and gets handed a tray with “special” food may not feel the same way.  They may feel isolated from their friends who are grabbing slices of pizza or eating a cheeseburger.  They may not want to open up their thermos of metabolic formula because it smells funny and they are afraid people will laugh at them.  They may be upset that they are different and have a disorder that changes what they can eat or drink.

If you think of all the things that are influenced by, or influence, our diets, imagine that changing because you can’t eat like everyone.  Going to birthday parties is different because you have to take a dairy free, egg free low protein cupcake your Mom made and you can’t have the birthday cake everyone else is having.  Imagine going to camp and having to take your own cooler with formula and food because you can’t have what everyone else is having at lunch.  Even holidays with your own family are different because while everyone else is having turkey and stuffing, you are having a low protein pasta with vegetables.

Trips are hard because you have to make sure and take your metabolic formula, your gram scale, have your phe calculating app on your phone up to date and have food packed because you can’t just stop at a fast food restaurant for lunch.  The diet is for life, nothing changes the need for protein restriction, for formula supplementation, for having blood drawn and levels assessed.

Children, and adults, will rebel at formulas, sneak foods, stop checking levels.  These are normal compliance issues that happen with chronic disease.  When you live with something daily, it becomes too hard to deal with some days and that’s understandable.  We do our best to help our patients own their disease, to accept the steps needed for treatment and to embrace them.  We encourage talking with friends, telling people about their disorder, setting up a support system of friends and family that will give them the boost they need on a bad day.

There is nothing more heartwarming than having a patient tell you that their friends pick restaurants based on whether or not there will be low protein or vegetarian options so they can eat too!

This is just the tip of the iceberg when it comes to treating patients with metabolic conditions.  Hopefully though you will get an idea of the work and effort it takes the patients and their caregivers every day as well as how much we care for and support our patients.  This is an amazing group of patients to work with and the Metabolic Treatment Team takes their job to heart.  We enjoy seeing “our babies” grow into young children and adolescents and adults who have jobs and families of their own.

So think about protein the next time you sit down to a meal.  If you are really adventurous, try to go a whole day with only 5 or 6 grams of protein TOTAL.

You will see what our patients deal with daily and how important it is that we continue this work with metabolic conditions.  We can hope for enzyme replacement therapy or gene manipulation, but until that day is here, our families are living with this complicated treatment.

Having more people aware of these rare diseases and the effort needed for treatment will hopefully open the door for new and exciting advances in the years to come!

Amie Thompson

Low protein diets in a high protein world


Have you ever thought about how much protein you eat?  We hear things on the news, read in magazines, talk to our friends or doctors about our carbohydrate or fat intake but how many of us think about our protein intake?  Unless you are a body builder or athlete, it’s usually not a big concern.  In fact the “normal” diet tends to be much higher than the recommended intake for protein.  Take a standard dinner – maybe it’s a piece of chicken, some vegetables and a starch such as rice.  That could provide anywhere from 40 to 45 grams of protein depending on the portion size (and we all know how much we love our portions!).  The recommended intake for an adult is 45-50 grams – A DAY!  See, we meet that with NO problem!

But what happens if your body can’t have that much protein? 

What if you are born with a metabolic condition that makes protein difficult for your body to process, potentially even fatal?  Sounds dramatic doesn’t it?

But for patients that are born with certain inborn errors of metabolism such as Phenylalanine Hydroxylase Deficiency, Maple Syrup Urine Disease or one of the Urea Cycle Disorder this is their daily struggle.  They have to maintain a good, healthy diet but limit their protein intake to what their body can handle.  They may be allowed as little as 3-4 grams of protein per day.  Or as much as 25-30 grams.

How do they do it?  How do they eat well, meet their nutritional needs but maintain a protein restriction to keep their disease under control?

If you think about it, a glass of milk (8 ounces) has 8 grams of protein.  So what happens when a patient can only have 4 grams of protein per day?  Obviously they aren’t drinking milk.  They also aren’t eating cheese or yogurt, they aren’t having a chicken breast at lunch or eating a loaded baked potato at dinner.  They aren’t grabbing a cheeseburger in the drive thru on a trip or having a big ice cream cone to celebrate a good report card.  In this world of high protein, how do they make it through a day?

Clinic Melinda 2_01

Let’s look at a patient with Phenylalanine Hydroxylase Deficiency or PAH Deficiency.

You may know this disease by its better known title, PKU or Phenylketonuria.  PAH deficiency is the inability of the body to breakdown phenylalanine, an amino acid.  Amino acids are the building blocks of protein so any foods that have protein in them will have phenylalanine.  Because the Phenylalanine Hydroxylase enzyme is not functioning as it should, phenylalanine, or phe as we sometimes call it, builds up in the blood stream and crosses into the brain.

During the most important time of brain development, birth to about 8 years of age, phe is toxic in high amounts and can cause severe intellectual disability if not controlled.  Phenylalanine is needed in some amount however for growth and development.  The other complication is that the enzyme breaks phenylalanine down to tyrosine, another amino acid.  When unable to process phenylalanine, the body becomes deficient in tyrosine which is very important in brain and hormone functions.  So as you can see, it’s not just simply “limit protein” as there are many other things that need to be taken into consideration.

So, how do we take care of these patients?

Once the Metabolic Treatment Team at the Greenwood Genetic Center receives a call that a baby has screened positive for PAH deficiency on the state newborn screen, they get in touch with the family and bring them to clinic as quickly as possible.  Since the newborn screen is just that, a screening tool, further testing is completed to find out if they are a true positive for the disorder.

In the meantime, it’s better to be safe than sorry so they are started on treatment immediately.

Since breastmilk and all infant formulas contain phenylalanine, these must be provided in very limited amounts.  The team determines how much phenylalanine they think the infant can tolerate, just enough for continued growth and brain development.  But they want to make sure they aren’t getting too much which will cause brain damage.

And since the breastmilk or formula intake is limited for phenylalanine, how is the baby going to get the additional nutrients needed to promote growth?  Thankfully we have special metabolic formulas for all of the different disorders that are made to specifically treat these patients.  For PAH deficiency, the metabolic formula provides all vitamins, minerals, carbohydrates and fats that are needed for growth of an infant.  But the protein in these formulas is broken down to its very basic form, amino acids, and the phenylalanine is removed.  This way the baby will still get all of the amino acids needed for their nutritional needs but they won’t get an excessive amount of phe.  These formulas also supplement tyrosine since the infant can’t make that with the lack of the enzyme.

How do we know it’s working?

To monitor how well an infant is tolerating the phenylalanine content of their diet, they have to have levels checked twice a week.  This means the parents or caregivers must stick the heel or finger and fill out a blood spot card which is sent in for evaluation.  Based on the result, their phe intake may be increased or decreased to maintain it within the goal treatment range.

There are many things that can affect the phe level, not just what the child is eating.  Growth requirements, immunizations, illnesses, bottle or formula refusal and teething are just some of the normal occurrences in childhood that can lead to a phe level going too high or too low.  Because the phenylalanine intake is so tightly controlled, the caregiver must weigh formula on a gram scale to ensure accurate measurement.  This means that if they go on a family vacation, the gram scale, extra batteries, formula recipe and extra cans of the metabolic formula are packed along with the normal things a baby needs.

The metabolic formulas are not found in the regular grocery stores or even pharmacies.  For the state of SC, metabolic formula is provided by the health department which is an extremely helpful program.  These formulas are much more expensive than regular infant formulas.  Some states do not provide formula and that makes it very difficult for caregivers to maintain the appropriate treatment plan.  For our patients, the caregivers must monitor their supply so that they can contact the health department early enough to get the formula ordered, delivered and picked up.

Running out of metabolic formula is not an option.

For the infant, the treatment plan is fairly simple – measure breastmilk or regular infant formula to provide the goal amount of phenylalanine, measure the metabolic formula in the amount needed to supplement their nutritional needs, mix and give to the baby.

But then the fun really begins when they start solid food! 

Stay tuned for the next post to see how we manage these children’s dietary needs!

Amie Thompson

The ‘Just Say No’ Generation Faces New Questions

Today’s post is a guest submission from Cathy Stevens. Cathy and her husband, Erik Ching, live in Greenville, SC with their three children, Anders, 8, Halle,7, and Evan,3. Halle, has a mitochondrial disorder and is cared for through GGC’s metabolic clinic.

Stevens blog2

Seven years ago, when my daughter Halle was born with a rare genetic disorder, our family’s life was turned upside down. Thank goodness for doctors like Dr. Champaigne at GGC, nurses, therapists, caregivers and family who have worked with us to help Halle live life to the best of her ability. We simply adore our child who has special needs.

Somehow in my 30+ years of life prior to Halle’s birth I had never been up close and personal with seizures, even though they are quite prevalent in the community.

After watching and helping Halle live with seizures for the past seven years I can tell you – they are awful.

Watching my child begin to jerk and moan – and sometimes stop breathing – has been a terrible thing to have to witness, and there are so many other brave families out there dealing with this on a daily basis.

My husband and I ventured into the realm of seizure medication with wonderful geneticists and neurologists who helped us learn how to treat and cope with them. It’s so terrifying to have to give your 10-week-old medication that sedates, dulls the brain and has the possibility of permanently damaging peripheral vision.

When your child has a disability, there are things along the way that you just have to get used to. Though it is never easy, our family has learned to live with the fear of seizures, and we have seen than we all – especially Halle – can handle more than we ever imagined.

With the help of our neurologist, a few years ago, we found a combination of two traditional seizure medications that controlled her seizures pretty well, though not perfectly. Since we will do anything to help our daughter, when the news started showing stories about cannabis (medical marijuana) as an option for seizures we, of course, wanted to try.

With the support of our neurologist we started adding hemp-derived cannabis oil, which is legal in South Carolina, to her daily medicine regimen. We also conducted an EEG just prior to starting the cannabis oil and then again six weeks later. The results were positive. Halle’s number of seizures decreased significantly. And, the EEG showed fewer spikes and seizures. This was great news! But hemp contains much less cannabis than marijuana, and so ultimately to help Halle and many other children, we need to legalize medical marijuana in South Carolina.

My husband and I are very moderate and would never say that cannabis is a magic bullet for seizures. Like all medications, it helps some children and not others.  Yet, it does indeed work for some, and so, without a doubt it should be an option for doctors to recommend and patients to access. It should be a decision made between doctor and patient.


All of this is how I became involved in the medical marijuana advocacy movement in South Carolina, which is funny since I am from the ‘Just Say No’ generation.

I never expected this to happen but I believe strongly that marijuana does have some medical benefits, and more and more studies show this.

Along with the support of many other families who have children with disabilities and seizures, we have a bill called the South Carolina Compassionate Care Act that will help us get medical marijuana to those who need it without increasing recreational usage.

I firmly believe we are smart enough in this state to help those suffering with seizures without promoting the spread of recreational marijuana usage. A big part of our success will be through educating our representatives and communities on this topic.

With the legislative session over for this year, the many advocates working on this bill are regrouping and preparing for next year. We’d love for you to join us in our efforts to help those among us who cannot advocate for themselves.


Check out what this organization is doing to support the cause:

For additional information, visit or

*Guest posts on The Gene Scene cover a variety of genetics-related topics. They represent the opinions of the author and not necessarily those of the Greenwood Genetic Center.

Luigi’s take on TEDx

Personalized Medicine: A New Approach

Dr. Boccuto is a clinical geneticist who trained for several years under Professor Neri in Rome with a focus on in hereditary cancer, overgrowth syndromes and intellectual disability (ID) syndromes. Dr. Boccuto is currently an assistant research scientist at the JC Self Research Institute of the Greenwood Genetic Center. His main projects are focused on the study of the genetic causes of autism, ID, and conditions with segmental or generalized overgrowth. He is also characterizing the metabolic profiles of cells from patients with overgrowth, autism, ID, and other neurodevelopmental disorders.


Greenwood Mag1 (2)

Dr. Boccuto presented “Personalized Medicine: A New Approach” at TEDx in Greenville, South Carolina to share an inside look at how personalized medicine is offering a new sense of hope to those affected by rare medical conditions.


TED stands for Technology, Entertainment and Design. Where does your topic fit into this equation?

My life science-related topic doesn’t fit nicely into any one category, though I believe it complements the TEDx specialties of technology, entertainment and design.

Technology: New approaches in the era of personalized medicine require state-of-the-art technological advancements.

Entertainment: I hope the topic itself was as entertaining for the audience as it was for me to share. One of the main goals of TED is to provide a good time for the people in the audience, regardless of the topic of the talk. It might be hard to translate science into an entertaining talk for such a variegated audience as the one at TEDx, but I did my best and I hope that, with the precious help of my tutor and my coach, the result was enjoyable for everyone.

Design: Providing a solution to complex disorders requires re-designing the traditional approaches.

“If we are dealing with a COMPLEX disorder, why would we expect a SIMPLE solution?”


Can you summarize the main point of your TEDx talk?

I used autism as an example of a complex disorder still largely unknown. The more we study autism, the more we realize that detection of gene variants alone is not sufficient to understand what causes this condition. Therefore we developed a novel approach based on a larger field of investigation: we are not looking at the DNA, nor at its products (proteins), but at the whole metabolism. Interactions of multiple proteins are necessary to make our cells survive, proliferate, and attend to their specific tasks. Our aim is to evaluate if cells from individuals with autism “behave” differently from cells from controls. In order to do so, we expose to different compounds and we observe how they react, that is how their metabolism utilizes each compound.     

“Genetic investigations of the causes of autism have been following the <one mutant gene = one disease> model and therefore we have been looking for single changes affecting single pathways, that might cause clearly recognizable differences. […] Unfortunately, so far this approach has not been sufficient to solve the autism riddle yet.”


Why do you think your topic was worth sharing?

It’s difficult to know what will look cool in the eyes of others. I hoped the topic would reach the audience directly and indirectly because many people have been affected by autism in one way or another.

Our idea of the impact of genetics on our lives is changing and is leading to new and better strategies in research and, eventually, in the medical practice. The fact that there’s a new approach to medicine is exciting and can relate to many people. I think that is worth sharing.

“With complex disorders we are changing our perspective of the role of genetics in our lives: we are moving from determinism […] to predisposition.”


What was your favorite part of the process?

Finishing. There’s such a big machine behind the ted process so after finishing I was able to relax, be a spectator, and enjoy the others performances. After giving my talk and taking a big, relieving breath, it was great to see the other speakers and performers and fully appreciate the process they (and I) went through to get to that stage.

What was the most challenging aspect of the experience?

To find a way for my message to reach everyone, regardless of the diversity in the audience. I really wanted everybody from the audience to bring home something from my talk.

How long have you been working on this research project?

Since I arrived in Greenwood in 2007. I initially worked on autism candidate genes, then metabolic arrays to explore the differences between cells from individuals with autism and controls. Autism has been my main area of study for the ten years I’ve been here.

Are there other responsibilities of your position that has helped prepare you for the TEDx presentation?

Being an educator and mentor for interns interested in scientific research.

 Luigi with international interns

What is the most valuable advice you received from your coach?

To make sure each individual in the audience left with one clear message.

What advice would you give a future candidate if you became a TEDx coach?

Remember that every life and experience is unique and keep that in mind when sharing your ideas with the world. If you think your idea/experience is worth sharing, make sure it’s available in a way everyone can relate to. Get ready to share a part of yourself with the world, not just a talk.

What did you and the other TEDx speakers have in common?

The willingness to share ideas, educate, and bring joy to others.

“The goal of the new personalized medicine must not be to treat a disease, but to design the best possible cure for each and every human being.”


What is one idea you wanted the audience to take away from your speech?

The role of traditional genetics, especially for complex disorders, is being rethought.

Personalized medicine is the new and exciting approach. It means that in order to go from population to individual the key is to look at the bigger picture.

“To deal with a complex model, we change our approach: we look beyond the single gene, beyond the single protein, beyond the single pathway.”


How did your message represent the mission of Greenwood Genetic Center?

In order to give greater care and provide the best service possible, rigorous and precise research is necessary.

We need up-to-date technology to perform better experiences, but we also need the right vision. The design of our project is focused on translating our research from bench to bedside table, so that our community will benefit from more precise and efficient treatments. In simple words, a better approach in the research experiments will lead to the design of a better treatment profile and eventually to provide greater care.

“This massive amount of information (gathered from the new wider perspective) is already changing medicine, calling for a more personalized approach.”


If you were to choose one slide from your PowerPoint to share with the world, which would it be and why?

The last slide. It shows how our knowledge of genetics has changed. We have learned to detect not only major deleterious mutations, but also to identify minor variants and assess their impact on our health. Such impact might be small if we consider the variants individually, but if we look at the whole picture and take into account all the variants, their overall impact may still lead to important complex disorder, such as autism.


TedX Presentation Image

Our studies brought us to look at neurodevelopment as a lake being filled by many rivers: each river has its own particular characteristics in terms of color of the water, levels of salts, fish population, and so on. The delicate balance of all the characteristics provided by the rivers determine the proper development of our nervous system (green circle in the top left of the picture) and allows us to acquire complex functions such as language, social interaction, or processing of sensorial inputs.

For many years we have been accustomed to consider the effects of a single major gene defect as sufficient to determine the clinical features of a genetic condition. In our model that would be a river going completely dry, or a massive rock blocking or deflecting its course (red circle in the top right of the picture). By looking at a bigger picture, we are now learning that the combined effect of minor changes can still produce a significant disruption of our brain. For example, if the color of one river slightly changes and the fish population in another is halved, the individual effects on the rivers might not look significant, but they can still alter the final balance in the lake. In the same way, minor changes in the complex metabolic pathways determining our neurodevelopment may not look important if investigated individually, but we can assess their true impact only by looking at the ultimate effects that they can generate once combined (grey circle in the bottom of the circle).

“The <one mutant gene = one disease> concept […] has been the seeds of medical genetics, but just like the seed must die to bare much fruit, so we need to go beyond that concept to fully understand the genetic impact, the genetic imprint on our lives.”



Personalized Medicine: A New Approach

“If we are dealing with a COMPLEX disorder, why would we expect a SIMPLE solution?”



Luigi Boccuto is originally from Catanzaro, Italy, but has been living in Greenwood, SC for over 10 years. He received his medical degree and post-doc degree in medical genetics at the Catholic University of Sacred Heart in Rome. During his school and training years, he worked on hereditary cancer, overgrowth syndromes and intellectual disability syndromes.

He is currently working as a Research Scientist at the JC Self Research Institute of the Greenwood Genetic Center. His main projects are focused on the study of autism, intellectual disability, and conditions with segmental or generalized overgrowth. Most of his work is focused on characterizing the metabolic profiles of cells from patients with genetic conditions, to detect biomarkers for early screening or diagnosis, discover pathogenic mechanisms underlying such disorders, and identify novel targets for treatment approaches.

He has always wanted to work in genetics and loves his job, particularly the idea that what he does will help children in the present, and even more in the future. In his free time, he likes to play soccer and read. His other passions are photography and traveling.

Dr. Boccuto presented “Personalized Medicine: A New Approach” at TEDx Greenville on April 7, 2017.

Video, image and bio courtesy of TEDx Greenville

“The goal of the new personalized medicine must not be to treat a disease, but to design the best possible cure for each and every human being.”

Luigi Boccuto

Want to learn more? Of course you do! Check back next week for an exciting behind-the-scenes look into Luigi’s lab!

From Single Genes to All the Genes: How technological advances are changing patient care

The Diagnostic Odyssey

The diagnostic odyssey is a term used throughout the genetics field to describe the often long, arduous, frustrating, and expensive process that many patients experience along the road to obtaining a correct diagnosis. This can apply to children with numerous and complex medical and developmental challenges as well as to adults facing declining health with no clear reason or explanation. The odyssey can take the form of patients being passed from specialist to specialist, undergoing countless blood draws, and often invasive, unnecessary and expensive medical procedures.

For nearly 40 years, molecular genetic investigation has been based on the analysis of single genes, a process known as Sanger sequencing. Those genes were sequenced in order to read every letter of the DNA code looking for mutations. This method has allowed researchers to identify the genes responsible for numerous genetic conditions. However, this technology requires a great time commitment, the often difficult task of selecting which genes to test, and a high price tag.

The advances in molecular technology are moving labs from analyzing one gene at a time to looking at large panels or even all of the approximately 20,000 genes at once. This testing, called ‘Next generation Sequencing’ or NGS, is providing more information, and often an answer, to patients who may be suspected of having a genetic condition. NGS overcomes most of the hurdles of traditional single-gene testing, and can lead to a finding that finally ends the diagnostic odyssey for many families.

Next Generation Sequencing

What is NGS?

NGS testing can be generalized into three categories:

  1. Targeted Panels

Targeted panels include the sequencing of select genes that share a common condition or phenotype. For example, GGC offers a targeted panel for hearing loss that includes 91 genes. So, for a patient with hearing loss, the entire panel is analyzed at once, removing the guesswork of which gene to do first, second…, and it is often more time and cost effective than Sanger sequencing. These are the most commonly requested tests currently in our lab.

  1. Whole Exome Sequencing (WES)

WES involves the sequencing and interpretation of the coding regions, or exons, of all of the approximately 20,000 genes. These exons, which are part of genes, code for proteins made by the body, but actually only make up about 1% of the human genome (30 million of the 3 billion base pairs). This testing is available clinically.

  1. Whole Genome Sequencing (WGS)

WGS is the sequencing of all of the DNA in the human genome (3 billion base pairs). This testing includes analyzing all sequences, including those that do not code for proteins, but have other functions such as regulating genes. At this time, because of the massive amounts of data generated, and limitations in interpreting what that data really means, most WGS is currently being done on a research basis.

WGS and WES offer what has been referred to as “non-hypothesis driven testing” as these options offer incredible opportunities to “find the genetic needle in the haystack”. They also come with the challenge of detecting significantly more variants. Genetic variation exists among all individuals and a great challenge with NGS is to understand and interpret what these variants mean, if anything, from a clinical perspective.


Where do we go from here?

Most in the field agree that WGS will ultimately become the gold-standard as NGS methods, particularly on the data management side, are continuously improved.

Achieving a molecular diagnosis is no longer a question of “if”, but rather “when”. The field of clinical genetics and the patients we serve have gained immeasurably from the use of NGS.

The most important reason to make a diagnosis reaches beyond the obvious benefit of providing an answer to a family. An accurate and precise diagnosis is the critical first step in the process to manage, treat, and one day cure the disease. Regardless of the age of the patient and their clinical course, all forms of genetic diseases should be considered treatable. For most genetic conditions, this notion is not yet realized, but the process starts with an accurate molecular diagnosis which lays the foundation for future breakthroughs.


Life with Autism: Finding the Ones Who “Get It”


Timmy was the “typical” energetic, inquisitive three year old. He could sing nursery rhyme songs word for word. He could speak in complete sentences. And he played constantly with his siblings.  He was a thriving little boy so full of light, life and laughter. But like a flip of a switch everything changed. Most of the words and songs suddenly vanished.  Timmy no longer showed interest in playing with others, even his brothers and sisters. Even going out in public became a nightmare and a tremendous source of stress for Timmy and the entire family. He became very anxious in strange surroundings with loud and unfamiliar noises and overstimulating sights. These extreme experiences ended in fitful meltdowns that were difficult to handle. Where did my little boy go? That was the question in this mother’s heart.

Needless to say, I suspected Timmy’s condition was autism months before Timmy received the diagnosis from a developmental pediatrician in Scottsdale, Arizona. I read everything I could find on the internet as well as publications. In addition, I spoke with local parents with children on the autism spectrum.  With a strong determination, I went into fight mode. However, I also struggled with the grief as well as with disappointment that things may never go back to the way they were.  The dismay that my dreams for my son may never come true was beyond heartbreaking. I wanted my Timmy back. I had lost control and it was devastating.

Timmy was officially diagnosed with Autism Spectrum Disorder when he was four years old. Shortly afterwards, our family moved from Phoenix, AZ to Ninety Six, SC which is my childhood hometown. I enrolled the children into the local school district where Timmy was placed in the K4 special education class. This was the beginning of our journey with autism and the education system.  The challenges that accompany a child with ASD can be so overwhelming in itself. Therefore, when advocating for services through the school is added the stress can become immense. Anxiety, worry, loneliness, depression, disappointment, anger, and yes the reoccurring grief can wash over you at once like relentless waves. At least that was what I was experiencing. Needless to say, Timmy is now 10 years old and he is progressing in his own timing. He has regained some speech, has many friends, and can sing like a bird. He even learned to sing the National Anthem last year and sang it in front of his entire school at Ninety Six Elementary School.

After several years of many ups and downs in my own family’s autism journey, I met an endearing mother with an adult child who is on the autism spectrum.  Chris was a volunteer at the Greenwood County Library where I am currently employed. We became fast friends and began to exchange stories, concerns and even encourage one another about our children with ASD. Our conversations frequently led to the fact that there was an absence of a support group in Greenwood County for parents who have loved ones on the autism spectrum. Knowing the need is tremendous for our families in our county, we stepped out and partnered together to kick off the Greenwood County Autism Support Group in March, 2015.

The focus and vision of the group is to provide a haven of support for parents and other loved ones who live with ASD. Every other month we  provide this platform so  individuals can feel free to share their struggles and concerns but also their successes about their children on the spectrum. It is reassuring to know there are those close by who understand and “get it” when it comes to the unique family dynamics concerning our loved ones. In addition, we also bring in speakers such as therapists, advocates, service providers, special education teachers, etc.  on alternate months who share their wealth of knowledge and resources to help guide, direct and encourage family members. Our meetings take place every fourth Thursday of the month at the Greenwood County Library at 6:30 p.m. We also have a Facebook page, Greenwood County Autism Support Group, available for individuals to join to stay informed about upcoming speakers and meetings. In addition, we have child care provided by staff from the Greenwood Genetic Center and Project Hope.

In closing, I personally as a parent have finally come to terms with my child and the reality that he has autism. He is still the same little boy I gave birth to 10 years ago and I have the privilege of watching him become and be all that he is meant to be. We will always have struggles and challenges. However, the joys and successes will always out number them all. It is a true honor to be a parent of such a special young man. And I am equally grateful I have found my circle of those individuals who truly “get it”.


By Angela Cogburn