November 6, 2018

As part of National Genetic Counselor Awareness Day on November 8, Texas Children’s recognizes the crucial role our genetic counselors play every day for our patients and their families. In fact, genetic counselor was named one of the “25 Amazing Healthcare Support Jobs” and one of the “100 Best Jobs” in 2017 by U.S. News and World Report.

The demand for genetic counselors continues to grow with the increase in our understanding of the genetic contributions to disease. As a liaison between the physician and patient, genetic counselors are an important part of the health care team. Specially trained in the areas of basic science, medical genetics, psychology and epidemiology, genetic counselors work closely with our physicians from various pediatric subspecialties to evaluate a family’s risk of an inherited medical condition, decide what genetic tests to order, and interpret and use the test results to provide guidance to patients and their families. With over 30 genetic counselors at Texas Children’s alone spread across many subspecialties, genetic counselors play a unique role that illustrates the importance of genetics in all areas of medicine.

“Since genetics is a very fast-paced and rapidly evolving field, we have to stay up to date with current genetic research and testing to provide patients with the most accurate information and best care possible,” said Andi Lewis, a Texas Children’s pediatric genetic counselor in the general genetics, neurofibromatosis, and cardiovascular genetics clinics.

Genetic counseling can be a very time-intensive process with a new patient appointment typically ranging from 45 to 60 minutes. Much preparation occurs prior to the appointment, which involves gathering a patient’s medical records and history, drawing the family tree or pedigree, and researching various possible diagnoses and recommendations for genetic testing options for the family.

Whether delivering good or difficult news to patients and their families, empowering them with the knowledge to make an informed decision lies at the heart of genetic counseling.

“With genetics being a growing component of many other subspecialties, there is a huge demand for genetic counselors to work within all areas of medicine so that we can help our patients and families understand the potential impact that genetics can play in their lives while supporting them throughout the process,” said Pilar Magoulas, pediatric genetic counselor at Texas Children’s and chief of the Division of Genetic Counseling at Baylor College of Medicine, Department of Molecular and Human Genetics.

Texas is proud to have over 100 genetic counselors with nearly 40 genetic counselors at Texas Children’s Hospital and Baylor College of Medicine alone. There are 37 genetic counseling graduate training programs across the United States and Canada. Baylor and the Department of Molecular and Human Genetics along with the School of Health Professions developed a genetic counseling training program and enrolled its first class of 8 students this fall.

For more information about Texas Children’s genetic counselors, click here. For more information on the genetic counseling profession, click here. For more information about the genetic counseling training program, click here.

November 21, 2017

Because of the complexity of conditions seen at Texas Children’s, many patients and families view the health system and its staff as a family that supports them both inside and outside the hospital. That relationship was on full display November 15 when several patients of the Texas Children’s Craniofacial Clinic were given the opportunity to attend a free, early screening of the movie, Wonder.

Wonder tells the incredibly inspiring and heartwarming story of August Pullman, a boy with facial differences who enters fifth grade, attending a mainstream elementary school for the first time. Based on the New York Times bestseller, the film stars Julia Roberts, Owen Wilson and Jacob Tremblay.

“We feel that this screening was a wonderful opportunity to highlight the courage displayed by so many of the children that we help treat every day,” said Dr. Larry Hollier, chief of plastic surgery and associate surgeon-in-chief for clinical affairs at Texas Children’s. “And it reinforces the importance of seeing things through others’ point of view. Finally, we thought it was a great opportunity for everyone to attend a real movie premiere.”

The premiere was sponsored by members of the Children’s Craniofacial Association and Texas Children’s Craniofacial Clinic team, which treats and researches complex craniofacial differences such as Treacher Collins Syndrome, the one highlighted in Wonder.

Held at AMC Studio 30 on Dunvale Road in Houston, the screening of the movie began with patients and families walking down a red carpet and posing for photographs before making their way to the theater. The event ended with comments from two Craniofacial Clinic patients and their family members.

Grace Anto, a 10-year-old Craniofacial Clinic patient, said she could relate to much of what August, the lead character in the movie, went through.

“I have felt like Auggie,” she said. “Every time I make a new friend, it’s like a new beginning.”

Twelve-year-old Lance Dromgoole, another Craniofacial Clinic patient, agreed and said his favorite part of the movie was when August and Jack became friends.

“That was definitely the best,” he said.

Like the lead character in Wonder, Lance and Grace have had multiple surgeries to correct their craniofacial differences. Grace has had 10 surgeries and Lance has undergone 38. Some of those procedures helped Lance breathe better and others gave him actual ears, something he was born without.

Lance’s grandmother, Kathy Dromgoole, said she will never forget the first time Lance was able to put on sunglasses and that she will forever be grateful for the care her grandson has received at Texas Children’s. Regarding the movie, she said she hopes Wonder shows people that children with craniofacial differences are normal kids and that they deserve to be treated as such.

Grace’s mother, Lynn Anto, said the movie beautifully illustrates the power of kindness and how greatly it is needed people’s lives.

“Everyone is going through something,” she said. “And everyone could use a little kindness.”

Athena Krasnosky, a nurse practitioner with the Craniofacial Clinic and one of the organizers of the screening, told last week’s audience that Texas Children’s sees itself and its patients and families as one big happy family, and that everyone within the Craniofacial Clinic was thrilled to have been able to watch such a meaningful film together.

“We are so glad to have been able see this movie together tonight as a family,” she said. “We hope you enjoyed it.”

Haley Streff, a genetic counselor with Texas Children’s and another organizer of the movie screening, echoed Krasnosky’s comments and said the moving screening was a powerful experience.

“All of us here have a connection to someone with a craniofacial difference,” she said. “We all can relate in one way or another to what just happened on that movie screen.”

November 14, 2017

As part of National Genetic Counselor Awareness Day on November 9, Texas Children’s recognizes the crucial role our genetic counselors play every day for our patients and their families. In fact, genetic counselor was named one of the “25 Amazing Healthcare Support Jobs” and one of the “100 Best Jobs” in 2017 by U.S. News and World Report.

The demand for genetic counselors continues to grow with the increase in our understanding of the genetic contributions to disease. As a liaison between the physician and patient, genetic counselors are an important part of the health care team. Specially trained in the areas of basic science, medical genetics, psychology and epidemiology, genetic counselors work closely with our physicians from various pediatric subspecialties to evaluate a family’s risk of an inherited medical condition, decide what genetic tests to order, and interpret and use the test results to provide guidance to patients and their families. With over 30 genetic counselors at Texas Children’s alone spread across many subspecialties, genetic counselors play a unique role that illustrates the importance of genetics in all areas of medicine.

“Since genetics is a very fast-paced and rapidly evolving field, we have to stay up to date with current genetic research and testing to provide patients with the most accurate information and best care possible,” said Andi Lewis, a Texas Children’s pediatric genetic counselor in the general genetics, neurofibromatosis, and cardiovascular genetics clinics.

Genetic counseling can be a very time-intensive process with a new patient appointment typically ranging from 45 to 60 minutes. Much preparation occurs prior to the appointment, which involves gathering a patient’s medical records and history, drawing the family tree or pedigree, and researching various possible diagnoses and recommendations for genetic testing options for the family.

Whether delivering good or not so good news to patients and their families, empowering them with the knowledge to make an informed decision lies at the heart of genetic counseling.

“With genetics being a growing component of many other subspecialties, there is a huge demand for genetic counselors to work within all areas of medicine so that we can help our patients and families understand the potential impact that genetics can play on their lives while supporting them throughout the process,” said Pilar Magoulas, pediatric genetic counselor at Texas Children’s and chief of the Division of Genetic Counseling at Baylor College of Medicine, Department of Molecular and Human Genetics.

Texas is proud to have over 100 genetic counselors with over 30 genetic counselors at Texas Children’s Hospital and Baylor College of Medicine alone. There are 37 genetic counseling graduate training programs across the United States and Canada. Baylor and the Department of Molecular and Human Genetics along with the School of Allied Health has created the second Genetic Counseling training program in Texas and will enroll its first class in the fall of 2018.

For more information about Texas Children’s genetic counselors, click here. For more information on the genetic counseling profession, click here.

July 26, 2016
genetics
Samantha Stover (above right) and Andi Lewis (below right) provide genetic counseling and support to their patients.

If you ask Samantha Stover what she enjoys most about being a prenatal genetic counselor, her answer is simple – empowering her patients with the knowledge and emotional support they need to make an informed health care decision.

Whether it’s ruling out a specific genetic condition or explaining all the genetic risks associated with a current or future pregnancy, Stover is a tireless advocate for her patients helping them navigate through this emotional journey of information gathering and genetic testing.

“Disclosing abnormal results or talking about potential syndromes or problems for a pregnancy is never easy,” said Stover, a genetic counselor at Texas Children’s Maternal-Fetal Medicine clinic. “We owe it to our patients to answer their questions and help them come to an informed decision about whether or not they want to have a genetic test and how they want to manage their care after the test results.”

As a liaison between the physician and patient, genetic counselors are an important part of the health care team. Specially trained in the areas of basic science, medical genetics, psychology and epidemiology, genetic counselors work closely with our physicians from various pediatric subspecialties to evaluate a family’s risk of an inherited medical condition, decide what genetic tests to order, and interpret and use the test results to provide guidance to patients and their families. With over 20 genetic counselors at Texas Children’s alone, spread across many subspecialties, genetic counselors play a unique role that illustrates the importance of genetics in all areas of medicine.

Genetic counseling can be a very time-intensive process with a new patient appointment typically ranging from 45 to 60 minutes. Much preparation occurs prior to the appointment, which involves gathering a patient’s medical records and history, drawing the family tree or pedigree, and researching various possible diagnoses and recommendations for genetic testing options for the family.

“Since genetics is a very fast-paced and rapidly evolving field, we have to stay up to date with current genetic research and testing to provide patients with the most accurate information and best care possible,” said Andi Lewis, a Texas Children’s pediatric genetic counselor in the general genetics, neurofibromatosis, and cardiovascular genetics clinics.

While Stover provides genetic counseling for pregnant patients and women who are planning to start a family, Lewis lends her expertise to families of children with suspected genetic disorders by guiding them through the process of achieving a diagnosis of a genetic syndrome.

In addition to meticulously reviewing genetic test results with a geneticist before sharing the results with families, Lewis writes genetic counseling letters to families explaining genetic diagnoses and their impact on the patient and family, as well as drafting letters of medical necessity to insurance companies to explain the rationale and need for genetic testing for each specific child.

As genetic counselors, Stover and Lewis don’t just provide information – another essential part of their responsibility is delivering emotional support to patients and families and connecting them to support groups and other resources during what can be a challenging and confusing time.

“I have been a shoulder to cry on when no one else could relate to the specifics of a patient’s case and they had no one to turn to,” Stover said. “I’ve seen families back for a new pregnancy after a devastating prior loss or a long battle of recurrent miscarriages or infertility. I’ve celebrated with some after great outcomes and I’ve secretly cried with others. But above all, the impact my patients have had on me is indescribable and that’s what makes this job so amazing.”

Whether delivering good or not so good news to patients and their families, empowering them with the knowledge to make an informed decision lies at the heart of genetic counseling.

“With genetics being a growing component of many other subspecialties, and a rapidly evolving field, there is a huge demand and need for genetic counselors to work within all areas of medicine so that we can help our patients and families understand the potential impact that genetics can play on their lives while supporting them throughout the process,” said Pilar Magoulas, pediatric genetic counselor at Texas Children’s and chief of the Division of Genetic Counseling at Baylor College of Medicine, Department of Molecular and Human Genetics.

“Assisting families with obtaining genetic testing requires dedication, but it is also worth it when we can either rule out a condition or end that family’s “diagnostic odyssey,” Lewis said. “My goal is that the information I give empowers the families I serve at Texas Children’s.”

June 21, 2016

3416ChristianSchaaf175Dr. Christian Schaaf, an assistant professor of Human and Molecular Genetics at Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s, recently received the Baylor College of Medicine Rising Star Clinician Award.

This annual award recognizes outstanding up and coming clinicians for their exemplary contributions to clinical excellence and expertise, consistent high level of patient care, commendable leadership skills and continuous exemplary service to the Baylor community.

Schaaf’s contributions have not gone unnoticed by his Texas Children’s and Baylor colleagues. “Besides Schaaf being an internationally recognized researcher and educator,” Dr. Robert Voigt says “his constant above and beyond dedication to his clinical work makes him a superstar.”

“In addition to expertise across all competencies of clinical care, Dr. Schaaf’s dedication to and advocacy for children with neurodevelopmental disabilities and their families, both within and outside the clinic, is unrivaled,” said Voigt, head of the Section of Developmental Pediatrics and director of the Autism Center and Meyer Center for Developmental Pediatrics at Texas Children’s.

As a Texas Children’s medical geneticist and NRI researcher, Schaaf devotes much of his time to solving complex genetic medical mysteries to help families obtain a diagnosis for their children’s previously unknown neurological conditions. Schaaf has made groundbreaking contributions in advancing the understanding of the genetic basis of autism spectrum disorder and the discovery of several genes for neurodevelopmental disorders and rare genetic syndromes. Two of these rare syndromes now bear his name: Bosch-Boonstra-Schaaf Optic Atrophy syndrome and Schaaf-Yang syndrome.

“It is impossible to fully convey how thankful we are for Dr. Schaaf,” said Amy Bell, whose child is a patient of Dr. Schaaf’s. “He is a true godsend to our family. His authentic, genuine care on such a human level is, without a doubt, the standard of excellence in medicine.”

In addition to receiving Baylor’s Rising Star Clinician Award, Schaaf has been the recipient of other prestigious awards including the Seldin-Smith Award for Pioneering Research and the Bowes Award in Medical Genetics for demonstrating a proven record of academic accomplishments, exemplary research and clinical excellence early in his career.

“I am humbled to receive the Rising Star Clinician Award,” Schaaf said. “Receiving this recognition is a tremendous honor, and I really owe it to the outstanding clinical and research environment and my instrumental mentors here at Texas Children’s Hospital and Baylor College of Medicine.”

June 1, 2016

6116craniosynostosis640More than 120 people recently attended Texas Children’s Hospital’s annual Craniosynostosis Reunion, which honors families whose children have undergone craniosynostosis surgery at the hospital.

Donned in superhero T-shirts and capes, patients and their families enjoyed a day filled with games, socializing and laughter as they celebrated healed scars, which were barely visible in the patients’ hair. Families shared stories and remembered the hope and strength they received when their child had surgery.

At Texas Children’s, the comprehensive Craniosynostosis Surgery Program brings together a multidisciplinary team of pediatric neurosurgeons and plastic surgeons as well as geneticists, ophthalmologists, social workers, otolaryngologists and anesthesiologists to meet the needs of each patient.

“It is a privilege to take care of children,” said Dr. Sandi Lam, pediatric neurosurgeon and co-director of the Craniosynostosis Surgery Program at Texas Children’s. “We are lucky to be able to support and connect patients and families in a meaningful way, beyond surgery. Seeing these children and families reminds us why we do what we do every day.”

Led by Lam and Dr. Laura Monson, pediatric plastic surgeon and the program’s co-director, Texas Children’s Craniosynostosis Surgery Program is among the largest in the country, offering a spectrum of treatment strategies including minimally invasive surgery and complex reconstructions. For more information about the program, visit the website.

Billie Casteel, Mary Kana, Lorraine Cogan, Show Bower and Sarah Colton organized the annual Craniosynostosis Reunion event, mobilizing other dedicated Texas Children’s staff and volunteers. A special treat was “SteveO,” a Houston area professional photographer who graciously volunteered his services for this special Texas Children’s Hospital event.

February 9, 2016

21016NRIrecognitioninside640

Wangler, Yamamoto awarded SFARI grant for autism spectrum disorder study

Drs. Michael Wangler and Shinya Yamamoto recently obtained a research grant from the Simon’s Foundation for Autism Research Initiative (SFARI) to advance their study on autism spectrum disorders.

Their study titled, “In vivo functional analysis of autism candidate genes” is one of five projects selected for research funding by the SFARI.

Autism spectrum disorders (ASDs) are highly heritable but have a complex genetic architecture. Whole-genome sequencing has been used to identify many potential genetic mutations that may be responsible for ASD. However, interpreting the disease relevance of these enormous numbers of individual variants has been difficult because many of them are poorly characterized.

In their study, Wangler and Yamamoto will use a fruit fly model system to study a subset of 300 autism candidate genes to determine their role in disease causation and progression. They predict that using this powerful genetic system will provide much-needed information on the biological mechanisms underlying ASDs.

Besides being on the NRI faculty, Wangler and Yamamoto are assistant professors in the department of Molecular and Human Genetics at Baylor.

Ballabio to receive the 2016 Louis-Jeantet Prize

Dr. Andrea Ballabio, founder and director of the Telethon Institute of Genetics and Medicine (TIGEM), Italy, professor at Baylor and faculty member at the NRI, has been selected to receive the 2016 Louis-Jeantet Prize for Medicine. He will share this award with biochemist John Diffley, associate research director at the Francis Crick Institute, United Kingdom.

The Louis-Jeantet Prize for medicine is awarded each year by the Louis-Jeantet Foundation to experienced researchers who have distinguished themselves in the field of biomedical research in Europe. The prize is intended to encourage the continuation of innovative research projects of major importance to fundamental or clinical medicine.

Ballabio was recognized for his contributions in advancing the understanding of molecular mechanisms controlling the function of lysosomes in health and disease.

Lysosomes are organelles responsible for the degradation of cellular waste. A growing number of diseases are associated to lysosomal dysfunction such as neurodegenerative diseases, cancer, obesity and infections. Ballabio’s group identified a master gene that globally controls lysosomal function and promotes intracellular clearance of accumulating pathological materials. These observations revealed a new biological pathway and provided a tool to modulate lysosomal function to treat human diseases.

Ballabio will receive the award during a special ceremony in Geneva, Switzerland on Wednesday, April 20.