Close
Enter your
text here
Posts By :

Abbie Roth

Study Highlights Relationship Between SI Gene and Chronic, Idiopathic Loose Stool in Some Children
 Study Highlights Relationship Between SI Gene and Chronic, Idiopathic Loose Stool in Some Children 1024 680 Abbie Roth
By:
Close up color photo of little boy holding hands on his belly

Researchers conducted one of the largest prospective, multicenter trials in pediatrics looking at the connection between SI variants and common gastrointestinal symptoms. The SI gene codes for the sucrase-isomaltase enzyme, which is expressed in the intestinal brush border. This enzyme is important to the digestion of sucrose, and without it, maldigestion and poor absorption of…

read more
9 Facts About the COVID-19 Vaccine
 9 Facts About the COVID-19 Vaccine 1024 683 Abbie Roth
By:

COVID-19 is a disease caused by the SARS-CoV-2 virus. In the United States, three vaccines are approved for emergency use, those produced by Pfizer, Moderna and Johnson & Johnson (J&J). These vaccines dramatically reduce your risk of getting severely ill or dying from COVID-19. The vaccines are also being shown to reduce the spread of…

read more
How Can We Make Child Health Equitable?
 How Can We Make Child Health Equitable? 550 350 Jeb Phillips, Abbie Roth and Natalie Wilson
By:

Researchers in the Center for Child Health Equity and Outcomes Research at Nationwide Children’s Hospital are tackling this question by identifying health disparities and uncovering exactly how social drivers of health impact outcomes. “Health equity means that everyone has a fair and just opportunity to be as healthy as possible.” That’s how the Robert Wood…

read more
Understanding Immune Responses to Build a Better Vaccine
 Understanding Immune Responses to Build a Better Vaccine 1024 606 Abbie Roth
By:

Researchers have used studies of respiratory syncytial virus and infant immune responses to develop a promising vaccine candidate. Respiratory syncytial virus (RSV) is an incredibly common yet potentially deadly pathogen. Almost everyone becomes infected with RSV during their first three years of life, but for certain populations — infants and elderly or immunocompromised people —…

read more
Global Study Highlights Antibiotic Overuse in the NICU
 Global Study Highlights Antibiotic Overuse in the NICU 1024 683 Abbie Roth
By:
Baby in NICU

Antimicrobial stewardship programs were associated with lower antibiotic use, regardless of the country’s income level. Excessive antibiotic use among infants born preterm in the newborn intensive care unit (NICU) is associated with poor patient outcomes, such as sepsis, necrotizing enterocolitis, bronchopulmonary dysplasia and others, and contributes to the emergence of multi-drug resistant microbes. A new…

read more
Introducing a New SARS-CoV-2 Vaccine Candidate
 Introducing a New SARS-CoV-2 Vaccine Candidate 1024 512 Abbie Roth
By:
coronavirus

The new vaccine candidate takes advantage of the long and successful history of the measles vaccine. A team of researchers from The Ohio State University and Nationwide Children’s have built a novel vaccine candidate against SARS-CoV-2. The candidate, published in Proceedings of the National Academy of Sciences (PNAS), used the measles vaccine as a vector…

read more
Targeting FSHD With Designed Antisense RNAs
 Targeting FSHD With Designed Antisense RNAs 1024 683 Abbie Roth
By:

Researchers describe small nuclear RNA antisense expression cassettes as a way to silence the DUX4 gene underlying facioscapulohumeral muscular dystrophy. Facioscapulohumeral muscular dystrophy (FSHD) arises from genetic and epigenetic changes that result in expression of the DUX4 gene in muscle. DUX4 is a developmental gene that is normally off in healthy muscle.  When expressed in…

read more
Incidence and Impact of Acute Kidney Injury in Patients With Hypoplastic Left Heart Syndrome
 Incidence and Impact of Acute Kidney Injury in Patients With Hypoplastic Left Heart Syndrome 150 150 Abbie Roth
By:

While incidence of severe kidney injury after surgery for hypoplastic left heart syndrome is low, it may be linked to increased 30-day mortality. Acute kidney injury – the abrupt decline of renal function – following pediatric heart surgery leads to worse outcomes, including increased mortality. The overall incidence of acute kidney injury (AKI) after pediatric…

read more
Lauren Bakaletz Named 2021 Allen Distinguished Scholar in Pediatric Research
 Lauren Bakaletz Named 2021 Allen Distinguished Scholar in Pediatric Research 1024 575 Abbie Roth
By:

Lauren Bakaletz, PhD, director of the Center for Microbial Pathogenesis in the Abigail Wexner Research Institute (AWRI) at Nationwide Children’s Hospital, was named the 2021 Allen Distinguished Scholar in Pediatric Research. The award is given in honor of former Nationwide Children’s CEO, Steve Allen, MD, and his role in growing the AWRI into a preeminent research institution.…

read more
Polysomnography in Infants: How Much Total Sleep Time is Really Needed?
 Polysomnography in Infants: How Much Total Sleep Time is Really Needed? 1024 575 Abbie Roth
By:
small baby with nose canula

Study identifies factors affecting total sleep time and suggests shorter sleep times can be effective for accurate interpretation and clinical decision making. In a recent study published in American Journal of Perinatology, experts from Nationwide Children’s Hospital investigated factors that affect total sleep time(TST) during infant polysomnography (PSG) in an effort to determine how much TST is…

read more
What Are the Clinical Implications of Crescentic Glomerulonephritis?
 What Are the Clinical Implications of Crescentic Glomerulonephritis? 1024 732 Abbie Roth
By:

The Pediatric Nephrology Research Consortium’s most recent study investigates the risk factors for disease progression in children with glomerulonephritis and crescents on kidney biopsy. In patients with glomerulonephritis (GN), the histopathology of the kidney may include crescents, which result from extra-capillary proliferation of cells within the glomerulus. A recent study from the Pediatric Nephrology Research…

read more
Measuring the Progression of CF in School-Aged Children
 Measuring the Progression of CF in School-Aged Children 1024 575 Abbie Roth
By:
Illustration of lungs on blue silhouette of upper chest on black background

A multicenter study utilized chest computed tomography and lung function tests taken repeatedly over two years in school-aged children with mild cystic fibrosis. Understanding disease progression in chronic illnesses is important to managing patients and improving outcomes. For children with cystic fibrosis, it can be difficult to predict how long it will take for negative…

read more
More to Telehealth Than Meets the Screen
 More to Telehealth Than Meets the Screen 1024 535 Abbie Roth
By:
Collage of health technology tools

Telehealth has become essential to American health care during the COVID-19 pandemic, but is it really the solution to our biggest access-to-care problems? When COVID-19 ignited stay-at-home orders, public and private insurers quickly relaxed the rules for covering telehealth visits. Health care systems responded in kind by rapidly expanding their telehealth capacity and training. Expanding…

read more
Managing Lymphatic Flow Disorders: Expanding Care Through Collaboration
 Managing Lymphatic Flow Disorders: Expanding Care Through Collaboration 1024 683 Abbie Roth
By:

Alteration in the Lymphatic System Leading to Flow Disorders The lymphatic system plays a critical role in circulating a clear to yellow-colored fluid called lymph, which contains proteins, immune factors and cells throughout the body. It is also responsible for collecting fats and fat-soluble vitamins from the gastrointestinal tract in cloudy-appearing chylous fluid. This fluid…

read more
Novel Intervention Helps Infants With Cerebral Palsy Develop Arm and Hand Function
 Novel Intervention Helps Infants With Cerebral Palsy Develop Arm and Hand Function 1024 683 Abbie Roth
By:

A new NIH-funded randomized controlled trial shows that an intervention combining a patented soft restraint harness, therapist coaching and parent training increases reach smoothness, fine motor skills and tactile sensation in the more-affected upper extremity. For the first time in infants with CP under 2, a clinical trial of this type of intervention was shown…

read more
Additions to Neuro-Oncology Team Bring CONNECT Consortium to Nationwide Children’s
 Additions to Neuro-Oncology Team Bring CONNECT Consortium to Nationwide Children’s 1024 575 Abbie Roth
By:

Maryam Fouladi, MD, has been named the co-executive director of the Pediatric Neuro-Oncology Program at Nationwide Children’s Hospital and Rachid Drissi, PhD, will join the Center for Childhood Cancer and Blood Diseases in the Abigail Wexner Research Institute as a principal investigator focused on cellular aging and telomerase inhibitors to suppress brain tumor growth in children. Dr. Fouladi will continue her…

read more
Race Is a Risk Factor for Postoperative Death in Apparently Healthy Children in United States
 Race Is a Risk Factor for Postoperative Death in Apparently Healthy Children in United States 1024 683 Abbie Roth
By:

African American children were nearly 3.5 times more likely to die within 30 days after surgery, compared to white peers. In a new study, published in Pediatrics, researchers have shown that being African American was strongly associated with a higher risk of postoperative complications and mortality among apparently healthy children. In fact, compared to their white peers,…

read more
Targeting Bacterial Biofilm Linchpin Prevents and Treats Recalcitrant Biofilm-Mediated Infections
 Targeting Bacterial Biofilm Linchpin Prevents and Treats Recalcitrant Biofilm-Mediated Infections 1024 575 Abbie Roth
By:
Illustration showing the precise pattern of a biofilm - a perfect, 3D matrix

A new study highlights two approaches with substantive efficacy and potential for broad application to combat biofilm-mediated diseases. Chronic and recurrent bacterial diseases are treatment-resistant due to the ability of the pathogens to establish biofilms, which act as fortresses built of extracellular DNA and proteins to protect populations of the bacteria. For more than 11…

read more
From Expectant Parents to Advocates: One Family’s Journey With Hypoplastic Left Heart Syndrome
 From Expectant Parents to Advocates: One Family’s Journey With Hypoplastic Left Heart Syndrome 1024 575 Abbie Roth
By:

Mila’s parents wanted her to have the best chance at surviving her high-risk comprehensive stage 2 surgery – their journey led them to The Heart Center at Nationwide Children’s. Mid-way into their pregnancy, Jacob and Kayla went in for their 20-week ultrasound. “We were very excited to get into things like paint colors for our…

read more
Encouraging First Report of Systemic Delivery of Micro-dystrophin Gene Therapy in Children With Duchenne Muscular Dystrophy
 Encouraging First Report of Systemic Delivery of Micro-dystrophin Gene Therapy in Children With Duchenne Muscular Dystrophy 150 150 Abbie Roth
By:

One-year data from the first four patients to receive a single dose of the rAAVrh74.MHCK7.micro-dystrophin gene therapy is published in JAMA Neurology. Researchers from Nationwide Children’s Hospital have published in JAMA Neurology results from the first four patients treated in the first clinical trial of systemic delivery of micro-dystrophin gene therapy in children with Duchenne muscular dystrophy…

read more
Clinical Trials for Blood Cancers: Advancing Options for Children and Young Adults
 Clinical Trials for Blood Cancers: Advancing Options for Children and Young Adults 1024 683 Abbie Roth
By:

Most cancer treatments are first discovered, developed and approved for adult patients. But translating those therapies to pediatric and young adult patients with cancers can be more of a winding path than a superhighway. At Nationwide Children’s Hospital, the Division of Hematology, Oncology and Blood and Marrow Transplant is dedicated to participating in and supporting clinical…

read more
Study of Children With COVID-19 Admitted to US and Canadian Pediatric Intensive Care Units
 Study of Children With COVID-19 Admitted to US and Canadian Pediatric Intensive Care Units 1024 683 Abbie Roth
By:

Publication examines the characteristics and outcomes of children with COVID-19 who were admitted to North American PICUs. While two studies from Wuhan, China, have indicated that COVID-19 disease burden and severity seems to be lower in children, it remains to be seen how children around the world will fare as the pandemic progresses. In March…

read more
Using Genomics to Unlock Secrets of Recurrent Ear Infections
 Using Genomics to Unlock Secrets of Recurrent Ear Infections 1024 575 Abbie Roth
By:
conceptual art of DNA

Nontypeable Haemophilus influenzae (NTHI) is responsible for many acute and recurrent infections in children, such as otitis media. Otitis media – middle ear infection – is a common type of recurrent infection in children, with as many as 700 million acute cases and 300 million recurrent cases each year. One type of bacteria responsible for…

read more
Searching for a Predictive Biomarker of Pulmonary Hypertension in Babies With Bronchopulmonary Dysplasia
 Searching for a Predictive Biomarker of Pulmonary Hypertension in Babies With Bronchopulmonary Dysplasia 1024 575 Abbie Roth
By:

Pulmonary hypertension is high blood pressure in the lungs and is a comorbidity of bronchopulmonary dysplasia (BPD), which is the chronic lung disease of premature babies. When pulmonary hypertension is present in the context of BPD, the risk of death is significantly increased. As neonatologists continue to define the phenotype of severe BPD, Jennifer Trittmann, MD, MPH,…

read more
THRIVING After Severe Bronchopulmonary Dysplasia
 THRIVING After Severe Bronchopulmonary Dysplasia 1024 731 Abbie Roth
By:

Meet Willow. She was born via emergency C-section at just 22 weeks. Doctors at the delivering hospital told Willow’s mom Cortney that her baby’s chances of survival were low. But after a long journey through the newborn intensive care unit (NICU) at Nationwide Children’s Hospital, Willow is a vivacious 4-year-old looking forward to starting kindergarten…

read more
Epigenetics, Chromatin Architecture and a Judo Mechanism to Attack Cancer
 Epigenetics, Chromatin Architecture and a Judo Mechanism to Attack Cancer 1024 575 Abbie Roth
By:

Researchers broaden the understanding chromatin architecture in human disease. Epigenetics is the study of how genetic information is context-dependent: it is organized so it can be repressed, but also read, repaired and replicated. For example, transcription factors can “communicate” with each other through the chromatin-DNA interface, and work in combinations to regulate which genes are…

read more
What Could COVID-19 Mean for Pediatrics?
 What Could COVID-19 Mean for Pediatrics? 1024 683 Abbie Roth
By:

As COVID-19 spreads across the globe, experts are digging into the data and establishing protocols to better understand the illness in the context of pediatrics. As COVID-19, the illness caused by a novel coronavirus, has reached pandemic status, life has changed dramatically. At Nationwide Children’s Hospital, the halls are uncharacteristically quiet as a “stay at…

read more
Health Care and Medication Use Among Adolescents with Opioid Use Disorder in Ohio
 Health Care and Medication Use Among Adolescents with Opioid Use Disorder in Ohio 1024 575 Abbie Roth
By:

From Ohio – a state in the heart of the opioid crisis – a new study on the medications prescribed to teens with opioid use disorder. A new study from researchers in the Center for Innovation in Pediatric Practice at the Abigail Wexner Research Institute at Nationwide Children’s Hospital, recently published in Journal of Adolescent Health,…

read more
A Natural History of Duchenne Muscular Dystrophy in Boys 3 to 6 Years Old
 A Natural History of Duchenne Muscular Dystrophy in Boys 3 to 6 Years Old 1024 575 Abbie Roth
By:
boy with muscular dystrophy completing walk test

A prospective, multicenter study following 153 boys younger than 6 years old documents disease progression of Duchenne muscular dystrophy. Duchenne muscular dystrophy is the most common inherited neuromuscular disorder that affects all races and ethnicities. It affects males, occurring in 1/3,600 live-born infant boys. While some affected newborns may have mild hypotonia, other symptoms are rarely…

read more
How Does a Children’s Hospital Excel in the Discovery and Development of New Therapies?
 How Does a Children’s Hospital Excel in the Discovery and Development of New Therapies? 1024 575 Abbie Roth
By:
conceptual art of DNA

A conversation with Dennis Durbin, MD, MSCE chief scientific officer, Abigail Wexner Research Institute, Nationwide Children’s Hospital Nationwide Children’s has become an epicenter for gene therapy discovery and development. The discovery in 2009 that adeno-associated virus (AAV) could cross the blood-brain barrier was a milestone in the development of dozens of gene therapy products for neuromuscular…

read more
From Natural Killer Cells to Virus-Specific T Cells: What’s Next in Cellular Therapy
 From Natural Killer Cells to Virus-Specific T Cells: What’s Next in Cellular Therapy 969 533 Abbie Roth
By:
Illustration of NK Cells, T Cells, other immune cells floating across white background

Harnessing the power of the immune system to overcome cancer, improve outcomes of bone marrow transplants and fight viral infections in immunocompromised pediatric patients is at the heart of cell therapy research.   Natural Killers in Action Natural killer (NK) cells are a component of the innate immune system that mediates the death of cancer…

read more
Answers to Burning Questions About Pediatric Urinary Tract Infections
 Answers to Burning Questions About Pediatric Urinary Tract Infections 1024 683 Abbie Roth
By:

Nationwide Children’s urologists and nephrologists recently co-hosted a Twitter chat for primary care providers, answering common questions about pediatric urinary tract infections (UTIs). Below is a summary of the questions and answers, adapted for brevity and clarity. Q: What causes UTIs in children? A: UTIs are typically caused by uropathogenic E. coli bacteria that invade the urinary…

read more
Using an Evidence-Based Parenting Program to Engage a Community
 Using an Evidence-Based Parenting Program to Engage a Community 1024 575 Abbie Roth
By:

Given the similar size and distribution of Asian and Hispanic populations in central Ohio, Michael Flores, PhD, clinical team coordinator in the Big Lots Behavioral Health Services at Nationwide Children’s Hospital, was puzzled about why significantly fewer Asian families were seeking mental and behavioral health services at Nationwide Children’s. Roughly 4.9% of the Columbus population…

read more
Reducing Asthma-Related Emergency Department Visits
 Reducing Asthma-Related Emergency Department Visits 480 320 Abbie Roth
By:

Through serial interventions and teamwork, the initiative reduced asthma-related ED utilization rates by nearly 4% per year at a time when national rates were rising. Numerous studies have demonstrated that quality improvement (QI) methodologies improve asthma outcomes. However, moving that success from individual patients to a large population is challenging. In a recent study published…

read more
Percutaneous Occlusion Linked to Respiratory Improvements in Low-Weight Infants with PDA
 Percutaneous Occlusion Linked to Respiratory Improvements in Low-Weight Infants with PDA 1024 575 Abbie Roth
By:

Percutaneous occlusion for patent ductus arteriosus (PDA) in infants weighing less than 6 kg is associated with potential longer term improvements in respiratory health, research by investigators at Nationwide Children’s Hospital shows. “A new device for PDA closure recently approved by the FDA has potential to reduce the incidence of device-related complications. This important work…

read more
When Should Preoperative Neuromonitoring for Adolescent Idiopathic Scoliosis Be Used?
 When Should Preoperative Neuromonitoring for Adolescent Idiopathic Scoliosis Be Used? 150 150 Abbie Roth
By:

Study leads researchers to recommend against routine use of preoperative SSEP/TMS testing in cases of AIS requiring corrective surgery. Adolescent idiopathic scoliosis (AIS) is a coronal curvature of the spine that affects 1 to 3% of adolescents. Of these, a very small percentage – at most 0.5% – progress to the point of needing surgical…

read more
Improving Medication Dosing Consistency for Infants With Neonatal Abstinence Syndrome
 Improving Medication Dosing Consistency for Infants With Neonatal Abstinence Syndrome 150 150 Abbie Roth
By:

A quality improvement initiative effectively increases the percentage of infants dosed according to birth weight. From 2000 to 2009, prenatal maternal opiate use increased from 1.2 to 5.6 per 1,000 births, with up to 80% of in utero exposed infants requiring pharmacotherapy for neonatal abstinence syndrome (NAS). In Ohio, home of Nationwide Children’s Hospital, the exposure rate…

read more
It’s Not All About Weight: Treating and Managing Obesity in Pediatric Patients
 It’s Not All About Weight: Treating and Managing Obesity in Pediatric Patients 150 150 Abbie Roth
By:

Study highlights different metrics for measuring success of a weight management program for pediatrics. For pediatric patients who have severe obesity that is not well managed with the routine standard of care – diet, exercise and a meeting with a dietician – a more structured, multidisciplinary approach may be warranted. And for patients with endocrine…

read more
Meet Oluyinka Olutoye, MD, PhD
 Meet Oluyinka Olutoye, MD, PhD 1024 575 Abbie Roth
By:

In August 2019, Nationwide Children’s welcomed Oluyinka Olutoye, MD, PhD, as surgeon-in-chief. In a Q&A, the internationally renowned fetal surgeon shares his thoughts about the past, present and future of fetal surgery and the challenges and opportunities facing pediatric surgeons today.   Q: What brought you to Nationwide Children’s Hospital? I was initially attracted to…

read more
Bias: Do You See What Influences You?
 Bias: Do You See What Influences You? 1024 575 Abbie Roth
By:

In the United States, children of color have worse clinical outcomes than white children. Racial disparities have been documented in nearly every pediatric specialty. Among the most studied and most widely perpetuated disparities are those between black and white children. For example: The infant mortality rate, while declining overall, is nearly three times higher for…

read more
How and When Do Children Become Aware of the Construct of “Race”?
 How and When Do Children Become Aware of the Construct of “Race”? 1024 737 Abbie Roth
By:

Researchers have shown that babies of color are just as likely to experience bias as adults of color. But very young children don’t interpret that experience in the same way as older children. “Children become aware of differences in physical characteristics of human beings when they are 3 years old. They notice differences in sex…

read more
Stopping Progression of Tissue Injury after Button Battery Ingestion
 Stopping Progression of Tissue Injury after Button Battery Ingestion 150 150 Abbie Roth
By:

Irrigation with acetic acid neutralizes tissue and prevents delayed esophageal complications. Button battery injuries in children have been increasingly severe – resulting in devastating injuries and even death. Button batteries damage esophageal tissue through isothermic hydrolysis reactions, resulting in alkaline caustic injury, which leads to tissue necrosis. Prompt removal of the battery is critical to…

read more
Swallowing Functions Remain Worse in Preterm Infants Even at Full-Term Equivalent Age
 Swallowing Functions Remain Worse in Preterm Infants Even at Full-Term Equivalent Age 150 150 Abbie Roth
By:

Preterm infants exerted greater effort than full-term infants to consume less than half the volume in a recent study led by researchers at Nationwide Children’s Hospital. Preterm infants face many challenges as they enter the world too soon. One of the biggest challenges is learning the coordination of the suck-swallow refex that allows them to…

read more
Study Finds No Correlation Between Brain Function and Head Impacts After Two Seasons of Youth Tackle Football
 Study Finds No Correlation Between Brain Function and Head Impacts After Two Seasons of Youth Tackle Football 150 150 Abbie Roth
By:

In a prospective study of children playing tackle football, researchers find minimal changes in neurocognitive outcomes – and any changes were not correlated to number or severity of head impacts. Many parents, potential players and medical providers are increasingly wary of youth contact sports participation. The concern over the potential short- and long-term effects of…

read more
Pinterest Perfect Isn’t the Whole Story When It Comes to Safety
 Pinterest Perfect Isn’t the Whole Story When It Comes to Safety 150 150 Abbie Roth
By:

Imagine the scene: It’s late at night. You’re planning a party for your friend/spouse/child. Your phone is in your hand. What are you doing? You’re probably looking for inspiration on Pinterest or other social media sites. And while they might be the perfect places to find ideas for decorations or a new cupcake recipe, would…

read more
An Infant. A Virus. An Emergency IND. A Life Saved.
 An Infant. A Virus. An Emergency IND. A Life Saved. 150 150 Abbie Roth
By:

Clinician scientists collaborate to use virus-specific T-cells from the mother to successfully treat a systemic adenovirus infection in a preterm infant. It’s not every day that researchers can say that they’ve written and submitted and emergency investigational new drug (EIND) application to the Food & Drug Administration (FDA) and saved a life. But that’s what…

read more
What’s Next for NEC?
 What’s Next for NEC? 898 504 Abbie Roth
By:

Red. White. Black. These are the colors of necrotizing enterocolitis, or NEC. When surgeons open the distended abdomens of the tiny infants affected by NEC, they see a mottled mixture of red (inflamed), white (ischemic) and black (dead) tissue. Their first task is to assess whether or not there is enough viable tissue to save.…

read more
Fetal Balloon Aortic Valvuloplasty for Critical Aortic Stenosis
 Fetal Balloon Aortic Valvuloplasty for Critical Aortic Stenosis 1024 575 Abbie Roth
By:
Fetus in utero receiving valvuloplasty

Some heart defects, such as aortic stenosis can be detected on fetal ultrasound. For some fetuses, an intervention can be beneficial before birth. Aimee Armstrong, MD, director of Cardiac Catheterization and Interventional Therapies at Nationwide Children’s Hospital, performs fetal balloon aortic valvuloplasty among other fetal heart catheterization procedures as part of the Congenital Heart Collaborative, a…

read more
Long-Term Follow Up of Patients Receiving Novel Gene Therapy for SMA Type I
 Long-Term Follow Up of Patients Receiving Novel Gene Therapy for SMA Type I 150 150 Abbie Roth
By:

Spinal muscular atrophy type 1 (SMA1) is a rare neuromuscular disease in which 75 percent of affected children die or require permanent ventilation by 13.6 months. Researchers recently published the long-term outcomes of patients who received the investigational drug AVXS-101 – an adeno-associated virus serotype 9 mediated gene replacement therapy. Twelve children aged 1 to…

read more
Collaboration Key in Recent Advances for Batten Disease
 Collaboration Key in Recent Advances for Batten Disease 1024 683 Abbie Roth
By:

Batten disease (neuronal ceroid lipofuscinosis) is a collection of lysosomal storage disorders caused by a variety of genetic mutations. These disorders cause an accumulation of cellular “trash” to build up, ultimately causing the neurons to die. So far, scientists have identified 13 different versions of Batten disease, each with its own associated genetic mutation. Each version…

read more