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Research

Genetic Variation Contributing to Nephrotic Syndrome
 Genetic Variation Contributing to Nephrotic Syndrome 1024 683 Abbie Miller
By: Abbie Miller

Genetic variants in CR1 have significantly different population-specific frequencies and are linked with focal segmental glomerulosclerosis (FSGS) – the leading cause of nephrotic syndrome. Focal segmental glomerulosclerosis (FSGS) is a leading cause of nephrotic syndrome — a kidney disorder that causes proteins to leak into the urine causing a variety of complications. FSGS has an…

Enhancing Pediatric Suicide Risk Detection: Effective Screening, Pathways and Care
 Enhancing Pediatric Suicide Risk Detection: Effective Screening, Pathways and Care 1024 683 Madison Storm
By: Madison Storm

Youth suicide is a leading cause of death in the United States. Most youth who die by suicide have no mental illness diagnosis and have visited a health care provider within a year prior to their death. In fact, 40% of those youth visited a health care provider within one month prior.   “The data…

Single Ventricle, Many Research Angles
 Single Ventricle, Many Research Angles 1024 658 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

An overview of the people and projects behind one of the world’s most robust single-ventricle heart disease research hubs.  In the field of single-ventricle heart disease (SVHD), there are more questions than answers. What causes the heart to form with only one ventricle? At what point in fetal development might we intervene to improve its…

Clinical Genomics: From Research to Reality
 Clinical Genomics: From Research to Reality 1024 716 Abbie Miller
By: Abbie Miller

Without genomic sequencing, many genetic diseases would never be diagnosed. Genomic testing — whole exome or whole genome sequencing — is vital to reducing the diagnostic odyssey for children with rare, undiagnosed disease. But is genetic analysis only useful in these cases? Experts across the country have long suggested that genomic testing can be even…

Genomic Analysis: Overcoming a Formidable Challenge
 Genomic Analysis: Overcoming a Formidable Challenge 1024 360 Abbie Miller
By: Abbie Miller

Despite the improvements in scale and speed of generating genomic sequencing data, the challenge of genomic analysis and its costs remains. “In my opinion, the cost of data analysis has always been the largest component of the overall cost,” says Elaine Mardis, PhD, co-executive director of the Steve and Cindy Rasmussen Institute for Genomic Medicine…

Harnessing the Power of Antimicrobial Peptides: A New Frontier in Infection Prevention
 Harnessing the Power of Antimicrobial Peptides: A New Frontier in Infection Prevention 1024 602 Pam Georgiana
By: Pam Georgiana

Research offers promising solutions for urinary tract infection treatment and antibiotic resistance. Urinary tract infections affect millions of people and can contribute to significant morbidity. Research into innate immunity mechanisms has shown great promise for improving urinary tract infection prevention and treatment strategies, especially in populations at high risk, such as patients with insulin resistance.…

Breaking New Ground in Cancer Immunotherapy
 Breaking New Ground in Cancer Immunotherapy 1024 683 Pam Georgiana
By: Pam Georgiana

Nationwide Children’s researchers develop a scalable, targeted approach to overcoming cancer’s toughest challenges. Despite significant advances in treatments, cancer remains one of the leading causes of death globally. Traditional therapies, while improving patient outcomes, still have limitations — such as the need for frequent dosing, complex and costly manufacturing and severe side effects. These challenges…

Leveraging Technology and Partnerships to Transform Pediatric Orthopedic Care
 Leveraging Technology and Partnerships to Transform Pediatric Orthopedic Care 1024 683 Erin Gregory
By: Erin Gregory

An interview with Allen A. Kadado, MD, director of the Nationwide Children’s Hospital Center for Orthopedic Innovation, director of the Nationwide Children’s Pediatric Orthopedic Residency Program At Nationwide Children’s Hospital, the Department of Orthopedics drives pediatric health care innovation through collaborations that bridge clinical expertise and technological advancement. Specializing in areas like spinal deformities, trauma…

More Than One REMEDY for Genetic Disorders
 More Than One REMEDY for Genetic Disorders 1024 768 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

How a new approach to correcting heterozygous mutations and other novel techniques for gene editing are transforming the potential to combat disease The field of gene therapy has had some astounding success in recent years — much of which emerged from labs at Nationwide Children’s Hospital — but it has also stumbled over some serious…

Linaclotide: A New Option For Chronic Pediatric Constipation
 Linaclotide: A New Option For Chronic Pediatric Constipation 1024 668 Pam Georgiana
By: Pam Georgiana

Phase 3 Trial at Nationwide Children’s Supports Safety and Efficacy in Children Aged 6–17. Constipation, a common issue for children, can be a source of prolonged struggle and distress for young patients and their families. Despite many treatments being available, some children continue to battle with this condition for years. There is a lack of…

Real-Time Arrhythmia Detection in Adults With Fontan Palliation
 Real-Time Arrhythmia Detection in Adults With Fontan Palliation 1024 683 Pam Georgiana
By: Pam Georgiana

Evaluating the Utility and Accuracy of Patient-Driven Wearable EKG Monitoring Devices Patient-driven diagnostic wearables, such as personal EKG devices, are popular among adults interested in heart health. However, little is known about the accuracy of these devices for adults with congenital heart disease. “Research supports smartphone-based heart monitors for detecting normal rhythms and atrial fibrillation…

How Accurate is Pediatric Bipolar Disorder Testing?
 How Accurate is Pediatric Bipolar Disorder Testing? 1024 683 JoAnna Pendergrass, DVM
By: JoAnna Pendergrass, DVM

Symptom-based bipolar disorder tests accurately diagnose pediatric bipolar disorder, with parent-reported tests being among the most accurate. According to a systematic review and meta-analysis of studies evaluating the diagnostic accuracy of bipolar disorder index tests, parent-reported tests are more accurate than self- or teacher-reported tests. The analysis, led by Cristian Alcaíno, a doctoral candidate at…

Exploring Pediatric Diffuse Alveolar Hemorrhage: Causes and Outcomes
 Exploring Pediatric Diffuse Alveolar Hemorrhage: Causes and Outcomes 1024 575 Erin Gregory
By: Erin Gregory
Illustration of lungs on blue silhouette of upper chest on black background

In a groundbreaking study published in Pediatric Pulmonology, Sarah P. Cohen, MD, MS, and Katelyn Krivchenia, MD — both from Nationwide Children’s Hospital — along with their team investigate diffuse alveolar hemorrhage (DAH) in children, a rare but life-threatening condition involving bleeding into the lungs. The study unveils the complex interplay of causes and outcomes associated…

The Current and Future State of Scoliosis Care and Research
 The Current and Future State of Scoliosis Care and Research 1024 683 Madison Storm
By: Madison Storm

In the United States alone, scoliosis affects an estimated 7 million people – just under twice the population of Los Angeles – according to the Scoliosis Research Society. Each year, an estimated 30,000 children begin wearing braces for treatment.  Over time, the treatments available for different types of scoliosis have continued to advance, in large…

Proteinuria Reduction in Nephrotic Syndrome Without Suppressing the Immune System
 Proteinuria Reduction in Nephrotic Syndrome Without Suppressing the Immune System 375 280 Mary Bates, PhD
By: Mary Bates, PhD

Study suggests a distinct, non-immunosuppressive mechanism of action for drugs that ameliorate proteinuria in an NS model. Nephrotic syndrome (NS) is a leading cause of chronic kidney disease in children and adults. NS is characterized by dysregulation of the kidneys’ glomerular filtering units, resulting in massive proteinuria, hypoalbuminemia, and edema. Glucocorticoids are the primary treatment…

Lessons Learned: From First Gen Student to Chief Scientific Officer
 Lessons Learned: From First Gen Student to Chief Scientific Officer 1024 683 Nationwide Children's
By: Nationwide Children's

Joanne Turner, PhD, chief scientific officer at the Abigail Wexner Research Institute at Nationwide Children’s Hospital, shares what it’s like to go from first gen college student to academic leadership.    What inspired you to go to college and pursue a bachelor’s degree in science? When I was in school, college never came up as…

Empowering Therapists With Better Tools
 Empowering Therapists With Better Tools 1024 481 Wendy Margolin
By: Wendy Margolin

New research director sets out to improve mental and behavioral health care with assessments.  Providing mental or behavioral health care without simple, effective clinical assessment tools is like trying to lose weight without access to a bathroom scale, says Eric Youngstrom, PhD, the new director of the Institute for Mental and Behavioral Health Research at…

Can Artificial Intelligence (AI) Improve Access to Social Resources for Better Patient Outcomes?
 Can Artificial Intelligence (AI) Improve Access to Social Resources for Better Patient Outcomes? 1024 540 Pam Georgiana
By: Pam Georgiana

A recent study tests the ability of the DAPHNE© Chatbot to do just that. Health care providers and organizations recognize the impact of social factors on health and are increasingly addressing social determinants to improve health outcomes and equity. However, integrating social care into health practices remains challenging due to structural barriers such as staffing,…

Nationwide Children’s Researchers Awarded Funding to Carry Out Groundbreaking Research on Single Ventricle Heart Disease
 Nationwide Children’s Researchers Awarded Funding to Carry Out Groundbreaking Research on Single Ventricle Heart Disease 150 150 Madison Storm
By: Madison Storm

The American Heart Association (AHA) and Additional Ventures have announced funding for five teams of scientists for research on single ventricle heart disease. Four researchers from Nationwide Children’s Hospital were included in the grant awards, building off their ongoing work in regenerative medicine and cardiovascular research. These Collaborative Sciences Awards bring together researchers from various…

Uncovering Racial and Ethnic Disparities in Pediatric Sleep Research
 Uncovering Racial and Ethnic Disparities in Pediatric Sleep Research 1024 683 Erin Gregory
By: Erin Gregory

In a recent study published in the Journal of Biomedical Informatics, Mattina Davenport, PhD, principal investigator in the Center for Child Health Equity and Outcomes Research at the Abigail Wexner Research Institute at Nationwide Children’s Hospital, explores the impact of biases in clinical documentation on pediatric sleep research. The Motivation Behind the Study Pediatric sleep…

Does Coinfection Lead to Longer Ventilation Times?
 Does Coinfection Lead to Longer Ventilation Times? 1024 683 Pam Georgiana
By: Pam Georgiana

New multicenter study evaluates treatments and diagnoses of respiratory infections in young patients.    Lower respiratory tract infection, or bronchiolitis, is one of the most common reasons for intensive care unit (ICU) admissions and mechanical ventilation in children younger than two years old. Despite this, little current research exists regarding the most effective treatment when…

A Noncardiomyocyte Signaling Pathway in Early Heart Development
 A Noncardiomyocyte Signaling Pathway in Early Heart Development 1024 670 Mary Bates, PhD
By: Mary Bates, PhD

Study demonstrates role for endocardial cells in myocardial trabeculation. A new study in Nature Communications from researchers at Nationwide Children’s Hospital provides novel insights into a signaling pathway that regulates the developing myocardium during early heart development. The findings have implications for understanding congenital heart disease and myocardial regeneration. This research was led by Deqiang…

Outcomes of Colonic Pull-Through for Patients With Cloacal Exstrophy: Is it Really Helping Kids?
 Outcomes of Colonic Pull-Through for Patients With Cloacal Exstrophy: Is it Really Helping Kids? 1024 683 Mary Bates, PhD
By: Mary Bates, PhD

Collaborative study reveals infrequent utilization of the procedure and identifies factors correlated with success. Cloacal exstrophy is a rare grouping of congenital anorectal malformations. Although once nearly uniformly fatal, survival has increased significantly, and with it, the focus on long-term outcomes. In the last 15 years, a reconstructive surgery known as colonic pull-through has been…

New Frontiers for Data Science in Pediatric Research
 New Frontiers for Data Science in Pediatric Research 1024 577 Peter White, PhD
By: Peter White, PhD

From discovery science to population health, researchers generate masses of data that hold immense potential to transform pediatric research, diagnostics, treatments and even guide disease prevention strategies. To make sense of this data deluge, we’ve been harnessing the power of cloud computing and cutting-edge data science techniques, such as artificial intelligence (AI), machine learning (ML)…

Connecting Well-being to Compassionate Care in Pediatric Residents
 Connecting Well-being to Compassionate Care in Pediatric Residents 1024 683 Madison Storm
By: Madison Storm

A multicenter study identified several well-being factors associated with pediatric residents’ confidence in providing calm, compassionate care to patients. Suzanne Reed, MD, has been interested in medical education since her training as a medical student. Captivated by the academic side of education, Dr. Reed has dedicated much of her research and clinical work to medical…

New National “Vital Signs” to Measure Population-wide Pediatric Health
 New National “Vital Signs” to Measure Population-wide Pediatric Health 1024 683 Jeb Phillips
By: Jeb Phillips

In 2017, an opinion piece in JAMA Pediatrics started this way: “We call for a national effort to develop a parsimonious set of quality and outcome measures for (all) children.” And now, for perhaps the first time in American pediatrics, that “parsimonious set: has been laid out to guide communities and health systems across the United…

Stem Cell Study Opens Door to Understanding Development of Rare Form of Congenital Heart Disease
 Stem Cell Study Opens Door to Understanding Development of Rare Form of Congenital Heart Disease 150 150 Pam Georgiana
By: Pam Georgiana

Researchers use induced pluripotent stem cell technology and single-cell genomics to pinpoint abnormal cell development in hypoplastic right heart syndrome. A rare form of hypoplastic right heart syndrome (HRHS), pulmonary atresia with intact ventricular septum (PA-IVS), occurs when the structures on the right side of the heart are malformed. Specifically, in PA-IVS, the pulmonary valve…

Higher Respiratory Severity Scores Associated with Bronchopulmonary Dysplasia-Associated Pulmonary Hypertension Risk
 Higher Respiratory Severity Scores Associated with Bronchopulmonary Dysplasia-Associated Pulmonary Hypertension Risk 1024 683 Mary Bates, PhD
By: Mary Bates, PhD

The RSS score is noninvasive and may be clinically useful for risk stratification in extremely preterm infants. Researchers at Nationwide Children’s report that elevations in the respiratory severity score were correlated with an increased risk of bronchopulmonary dysplasia-associated pulmonary hypertension in preterm infants. This study identifies a pragmatic clinical risk score that can be measured…

Gene Therapy for the Masses?
 Gene Therapy for the Masses? 1024 683 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Long-lived financial and logistical hurdles make bringing new gene therapy products to market a major challenge. To help bring more of these medical miracles to fruition, experts across industry, regulatory review, science and medicine have begun to problem solve together.  With the approval of the gene therapy Kymriah® (tisagenlecleucel) in 2017, the Food and Drug…

Hear Me Read: Novel Technology Approach to Reading Skills for Children with Impaired Hearing
 Hear Me Read: Novel Technology Approach to Reading Skills for Children with Impaired Hearing 1024 683 Madison Storm
By: Madison Storm

For children who are deaf or have impaired hearing, access to sound through tools like hearing aids, cochlear implants and/or intensive speech therapy is critical for developing speech and literacy. “The challenges faced are not the same as those an adult faces,” says Prashant Malhotra, MD, surgeon in the Department of Pediatric Otolaryngology and Hearing…

Meet Daphne©, a ChatBot for Pediatric Health Care
 Meet Daphne©, a ChatBot for Pediatric Health Care 150 150 Madison Storm
By: Madison Storm

Machine learning and artificial intelligence (AI)have exploded across the worlds of marketing and commerce in recent years. At Nationwide Children’s, clinicians and researchers are focusing on how AI and related technologies can be used to reduce clinician workloads and improve patient outcomes. Emre Sezgin, PhD, principal investigator in the Center for Biobehavioral Health at Nationwide…

Innovations in Pediatric Cancer and Transplants: Q&A With Sara K. Rasmussen, MD, PhD
 Innovations in Pediatric Cancer and Transplants: Q&A With Sara K. Rasmussen, MD, PhD 150 150 Pam Georgiana
By: Pam Georgiana

Sara K. Rasmussen, MD, PhD, is a transplant and pediatric surgeon in the Department of Abdominal Transplant and Hepatopancreatobiliary Surgery and an associate principal investigator in the Center for Clinical and Translational Research in the Abigail Wexner Research Institute at Nationwide Children’s Hospital. She earned both her medical and doctoral degrees from West Virginia University…

Acute Kidney Injury After Comprehensive Stage Two Palliation in Infants With Hypoplastic Left Heart Syndrome
 Acute Kidney Injury After Comprehensive Stage Two Palliation in Infants With Hypoplastic Left Heart Syndrome 150 150 JoAnna Pendergrass, DVM
By: JoAnna Pendergrass, DVM

Infants with hypoplastic left heart syndrome who undergo the Hybrid pathway palliation commonly develop acute kidney injury after the comprehensive stage 2 procedure and may require advanced medical therapy.   In a recent Cardiology in the Young publication, Andrew Yates, MD, associate medical director for the Cardiothoracic Intensive Care Unit at Nationwide Children’s Hospital, and…

Increasing the Donor Pool for Young Children Waiting for Heart Transplants
 Increasing the Donor Pool for Young Children Waiting for Heart Transplants 150 150 Pam Georgiana
By: Pam Georgiana

The one-year survival rate following a pediatric heart transplant is over 90%, However, waitlist mortality in the United States for children remains high at 17%. Young and highly sensitized children typically experience longer waitlist times for a heart transplant, which increases their waitlist mortality. In response, doctors utilize various strategies to potentially increase the number…

Researchers Create Public Database of Nearly 40,000 Control Samples for Genetic Association Studies
 Researchers Create Public Database of Nearly 40,000 Control Samples for Genetic Association Studies 1024 575 Lauren Dembeck
By: Lauren Dembeck
conceptual art of DNA

Genetic association studies provide powerful means of discovering relationships between genetic variants and disease risk. However, these studies require enrolling very large numbers of individuals with the disease (cases) and healthy individuals (controls) as well as collecting genetic data for all of those participants — a time-consuming and expensive endeavor. “Sequencing DNA for a healthy…

Meet Toni Pearson, MD: Pediatric Movement Disorders Expert
 Meet Toni Pearson, MD: Pediatric Movement Disorders Expert 150 150 Pam Georgiana
By: Pam Georgiana

Toni S. Pearson, MD, joined Nationwide Children’s in 2022 as an attending pediatric neurologist and professor of pediatrics at The Ohio State University College of Medicine. She specializes in childhood movement disorders, such as dystonia, chorea, parkinsonism, ataxia, myoclonus, tremors, tics, and spasticity. Dr. Pearson is also developing a fellowship training program for a new…

Frequency of Pediatric Encounters Predicts Timely Transfer to Adult Care for Youth With Autism
 Frequency of Pediatric Encounters Predicts Timely Transfer to Adult Care for Youth With Autism 1024 683 JoAnna Pendergrass, DVM
By: JoAnna Pendergrass, DVM

For adolescents and young adults with autism, the total number of pediatric appointments is strongly correlated with a timely transfer to adult care, while the reason for this correlation remains to be elucidated.   In a recent study, Laura Hart, MD, a pediatrician at Nationwide Children’s Hospital, and her research team reported a strong correlation…

Enhancing Intestinal Rehabilitation Workflow with Disease-Specific Documentation Tools
 Enhancing Intestinal Rehabilitation Workflow with Disease-Specific Documentation Tools 150 150 Erin Gregory
By: Erin Gregory

Structured data entry not only reduces the amount of time physicians are spending in the electronic health record but also opens the door for new research. A recent study published in JAMA Pediatrics by Nationwide Children’s Hospital’s Ethan Mezoff, MD, Jennifer Lee, MD, and team has shed light on a promising solution to improve the…

Tissue Engineered Trachea: State of the Research
 Tissue Engineered Trachea: State of the Research 150 150 Lauren Dembeck
By: Lauren Dembeck

The promise of tissue-engineered trachea grafts is moving closer to the clinic, as recent preclinical studies have shown successful implantation and neovascularization. Breathing is an essential biological function that provides our bodies with the oxygen necessary for survival. However, most of us rarely think about the biological structures that make it possible. The trachea, commonly…

Oncolytic Virus Immunotherapy Safe and Tolerable in Children With Relapsed or Refractory Solid Tumors
 Oncolytic Virus Immunotherapy Safe and Tolerable in Children With Relapsed or Refractory Solid Tumors 1024 683 Lauren Dembeck
By: Lauren Dembeck

The overall survival rates for children with childhood cancers is now over 80%; however, for children with relapsed and refractory tumors, the survival rates remain low. “For example, children with relapsed or refractory neuroblastoma have a five-year survival of less than ten percent,” explains Keri A. Streby, MD, director of the Neuroblastoma Program in the…

Recognizing the Benefits of Music and Massage Co-therapy in Pediatric Palliative Care
 Recognizing the Benefits of Music and Massage Co-therapy in Pediatric Palliative Care 1024 680 JoAnna Pendergrass, DVM
By: JoAnna Pendergrass, DVM

For adolescent patients in home-based pediatric palliative care, co-treatment with music therapy and massage therapy benefits both the patients and their families. A case study recently published in Music & Medicine reported the benefits of co-treatment with music therapy and massage therapy for a patient in home-based pediatric palliative care. Complementary therapies, such as music…

Racial Disparities in Health Care Use Among Medicaid-Covered Children With Congenital Heart Disease
 Racial Disparities in Health Care Use Among Medicaid-Covered Children With Congenital Heart Disease 1024 683 Lauren Dembeck
By: Lauren Dembeck

In the United States, congenital heart disease is the most common birth anomaly, with almost 40,000 newborns diagnosed each year. As these children grow, they are at increased risk of developing cardiovascular complications. Thus, ensuring they receive recommended cardiology care is essential to their long-term health and well-being. Racial disparities in health outcomes have been…

NIDDK Grant Awarded to Launch Integrated Islet Distribution Program Islet Isolation Center
 NIDDK Grant Awarded to Launch Integrated Islet Distribution Program Islet Isolation Center 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

A Nationwide Children’s Hospital research team has received federal funding to become a hub for the isolation and distribution of high-quality human islet cells for the diabetes research community. Since joining Nationwide Children’s Hospital in 2022 as director of the Islet Cell Isolation Program, Balamurugan Appakalai, PhD, has been leading one of the nation’s most…

Featured Researcher — Nilsa Ramirez, MD
 Featured Researcher — Nilsa Ramirez, MD 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Nilsa Del Carmen Ramirez Milan, MD, director of the Biopathology Center at Nationwide Children’s Hospital, leads the biorepository team that receives about 1,000 new specimens each day. These must be processed and stored properly—together with the rest of the biobank’s > 6 million specimens. Then there is the outflow of samples provided for clinical analysis…

FDA Approves Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy
 FDA Approves Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy 1024 632 Abbie Miller
By: Abbie Miller

On June 22, 2023, the FDA announced accelerated approval for SRP-9001/ELEVIDYS for Duchenne muscular dystrophy (DMD) following decades of research in the Center for Gene Therapy at Nationwide Children’s Hospital. The FDA approved the treatment for pediatric patients 4-5 years old with DMD. Jerry Mendell, MD, principal investigator in the Center for Gene Therapy at…

Chaotic Genomes in Childhood Bone Tumors Are Not Always Unstable
 Chaotic Genomes in Childhood Bone Tumors Are Not Always Unstable 1024 575 Jessica Nye, PhD
By: Jessica Nye, PhD
conceptual art of DNA

The structural genomic complexity that characterizes most osteosarcoma tumors in children was not evidence of an unstable genome and a driver of cell-to-cell variations in gene expression within each tumor. “We’ve been trying to understand how tumor cells change as they become resistant to therapy or as they metastasize and spread to different parts of…

More Than a Building: Why Our Expanded Research Facilities Matter for Kids Everywhere
 More Than a Building: Why Our Expanded Research Facilities Matter for Kids Everywhere 1024 624 Dennis Durbin, MD, MSCE
By: Dennis Durbin, MD, MSCE

At Nationwide Children’s Hospital, we proudly acknowledge the significant role research has in improving patient care and overall child heath. The integration of research and clinical care is at the heart of the hospital’s strategic plan — a $3.3 billion investment over the next several years in our commitment to transform health outcomes for all…

Going Viral: The AAV Approach to Curing Cancer
 Going Viral: The AAV Approach to Curing Cancer 1024 256 Emily Siebenmorgen
By: Emily Siebenmorgen

According to Timothy Cripe, MD, PhD, chief of the Division of Hematology and Oncology at Nationwide Children’s Hospital, it’s an incredible time to be working on cancer treatment – and now, targeted cancer prevention. “There’s so much going on in the cancer world these days,” says Dr. Cripe, who is also a principal investigator in…

Micro-dystrophin: A Small Gene With Big Promise
 Micro-dystrophin: A Small Gene With Big Promise 1024 632 Abbie Miller
By: Abbie Miller

SRP-9001 for Duchenne muscular dystrophy supplies a functional dystrophin gene via AAVrh74 gene therapy. In 1969, Jerry Mendell, MD, was working at the National Institute of Neurological Disorders and Stroke (NINDS) when he saw his first patient with Duchenne muscular dystrophy (DMD). DMD, a severe form of muscular dystrophy caused by a mutation in the…

Cancer-Causing Gene and Treatment Target for Ultra-Rare Rhabdomyosarcoma Confirmed Via Multiple Models
 Cancer-Causing Gene and Treatment Target for Ultra-Rare Rhabdomyosarcoma Confirmed Via Multiple Models 1024 764 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

An international team has validated a cancer-causing gene fusion — and therapeutic targets — for an unusual presentation of muscle cancer in infants. In 2016, researchers first identified a novel gene mutation and fusion in rare cases of infants with rhabdomyosarcoma, a type of skeletal muscle-like cancer, normally only seen in school-age children and teenagers.…