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Rare Diseases

Featured Researcher – Nizar Y. Saad, PhD
 Featured Researcher – Nizar Y. Saad, PhD 150 150 Gina Vitale
By: Gina Vitale

Not all genetic diseases are inherited; however, they are all the result of DNA mutations or flaws. Genetic research and gene therapy are integral in finding cures or helpful treatments for diseases such as muscular dystrophy. At the Abigail Wexner Research Institute (AWRI) at Nationwide Children’s Hospital, research scientists are engaged in precedent-setting transitional gene…

Advancing Genomics-Driven Precision Medicine in the NICU
 Advancing Genomics-Driven Precision Medicine in the NICU 1024 683 Natalie Wilson
By: Natalie Wilson

According to the Children’s Hospitals Neonatal Consortium, as many as half of newborns hospitalized in level IV neonatal intensive care units (NICUs) due to critical illness have an underlying genetic condition. Most don’t get their diagnosis for months or even years. However, clinical assays, new testing modalities and clinical trials are improving their care. Advanced…

Featured Researcher — Allison Bradbury, MS, PhD
 Featured Researcher — Allison Bradbury, MS, PhD 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Allison Bradbury, MS, PhD, is an accomplished principal investigator in the Center for Gene Therapy at Nationwide Children’s Hospital, but her introduction to medical research and the field of rare neurologic diseases wasn’t at school — it was in her great uncle’s garage, when his work as a veterinary pathologist led him to identify an inherited…

Novel Approaches to Gene Therapies for Patients With Rare Genetic Diseases
 Novel Approaches to Gene Therapies for Patients With Rare Genetic Diseases 150 150 Jessica Nye, PhD
By: Jessica Nye, PhD

According to the National Institutes of Health (NIH), nearly 7,400 diseases have been identified and classified as “rare” or “orphan” — “rare” because each afflicts fewer than 200,000 people in the United States and “orphan” because drug companies, unlikely to recoup research and development costs from such small patient populations, have historically found them too…

The Sound of Silence: The Impact of “Silent” Genetic Variation in Health and Disease
 The Sound of Silence: The Impact of “Silent” Genetic Variation in Health and Disease 1024 575 Lauren Dembeck
By: Lauren Dembeck

Despite widespread scientific interest in messenger RNA (mRNA) structure, its role in human health and disease remains poorly understood. Researchers at Nationwide Children’s Hospital have developed novel software and metrics to identify “silent” genetic variants that affect mRNA folding and may underlie rare genetic disorders. Historically, synonymous or “silent” genetic variants — those in protein-coding…

How Does Genomic Medicine Become a Reality for Children’s Health?
 How Does Genomic Medicine Become a Reality for Children’s Health? 1024 575 Jan Arthur
By: Jan Arthur
conceptual art of DNA

Perhaps one of the most important initiatives to advance our understanding of pediatric disease is genomic analysis. Genomics encompasses all aspects of understanding the human genetic code, especially how genetic information contained in every human cell can be interpreted to prevent disease and customize treatments for nearly every type of illness. Genomic analysis allows us…

Achieving CLARITY
 Achieving CLARITY 1024 575 Abbie Miller
By: Abbie Miller
conceptual art of DNA

Multidisciplinary team from Nationwide Children’s wins international genomics competition. Accurate, patient-centered, comprehensive. That’s how the judges and leaders of the CLARITY Undiagnosed Challenge described the work of a team from Nationwide Children’s Hospital. Those same words could be used to describe the highly motivated and diverse team who surprised themselves by winning the challenge. “When we entered the challenge, we knew we would…