Genomic Answers for Kids
What is Genomic Answers for Kids?
The Children’s Mercy Research Institute is undertaking a research initiative to build a first-of-its-kind pediatric data repository to facilitate the search for answers and novel treatments for pediatric genetic conditions. Our goal is to collect genomic data and health information for 30,000 children and their families over the next seven years, creating a database of nearly 100,000 genomes.
Genomic Answers for Kids (GA4K) is changing the landscape of pediatric genomics through what may be the most advanced system for rare disease diagnosis in the world. The team has surpassed 1,000 rare diagnoses through their groundbreaking work—far out-pacing other rare disease research programs—and continue to conduct cutting-edge science that has led to a number of “firsts” in the field of genomics research.
GA4K has produced more than 1,000 genomes through a state-of-the-art technique called HiFi sequencing that allows them to see more of the human genome than other techniques; is the first to use 5-base sequencing in their genomic analyses, accelerating answers for kids with rare diseases through the sequencing of the full genome; and is the first to apply “human assembly” to their rare disease genomics work, building hundreds of genomes from scratch to capture the DNA that is missed by the human genome developed in 2014.
Thousands of genetic diseases affecting children remain undiscovered and untreatable. Children’s Mercy is in the unique position of having the technology, scientists, physicians, as well as patient volume and diversity to address this challenge.
Studying the genetics of thousands of children will help us make rapid progress against these unknown diseases and lead the way for future children and families in need. Genomic Answers for Kids is a rich resource for researchers studying genetic conditions, leading to answers and new treatments for children.
Our progress on Genomic Answers for Kids relies on clinicians to identify possible participants in the program and for patients to volunteer to take part. Although all of today’s participants may not directly benefit, they will help future children and families in need. With your help, we will find genomic answers for kids.
We are seeking children who may have a genetic condition or a genetic component to their symptoms, as well as their families.
If you are interested in learning more about enrolling your child in Genomic Answers for Kids, please visit our page for patients and families.
If you are a healthcare provider interested in learning more about nominating your patients for Genomic Answers for Kids, please visit our page for providers.
For more information, contact the study team at Children’s Mercy at GA4K@cmh.edu or (816) 915-4200.
“Children’s Mercy is a national leader in pediatric genomic medicine, with a history of high-impact research in rare diseases. Studying the genetics of thousands of children will help us make rapid progress against these unknown diseases and lead the way for future children and families in need.”
Lead Study Investigator, Director of the Genomic Medicine Center
Genomic Answers for Kids project progress
We are working hard to make progress for patients with genetic disease!
*Our genetic material, or DNA, is made of a string of bases. When we sequence DNA we read these bases. Each gigabase sequenced is 1 billion bases read.
Genomic Answers for Kids is finding answers for families, like Kaden and Ty’s
Kaden and Ty have been facing liver disease, a disproportionate overgrowth of fat in the upper part of their bodies despite proper diet and exercise, and more for several years with no clear diagnosis.
Clinical genetic testing came back normal. But, Genomic Answers for Kids found an answer: MFN2 lipomatosis.
“Our journey to a diagnosis was very frustrating. He kept getting worse and we didn’t know if we’d ever find out why. Receiving a diagnosis through Genomic Answers for Kids was a huge relief.
Now that we have a diagnosis, we’re hoping the new drug therapy will lower triglycerides, not damage his liver anymore and help with overall health. And now that we know what’s wrong, the boys met with a plastic surgeon and are getting liposuction on their face, which will help with breathing and self-esteem. We couldn’t have done that without a diagnosis.
The doctor in Michigan who’s researching this rare disease is super impressed with the Children’s Mercy genetic department and that we caught this. She told us that 99% of doctors and hospitals wouldn’t catch it.” – Casie, Kaden and Ty’s mom
Establishing a new paradigm in rare disease research
Genomic Answers for Kids is a flagship initiative of the Children’s Mercy Research Institute and the Genomic Medicine Center. This research program is building a first-of-its-kind pediatric data repository to facilitate the search for answers and novel treatments.
Listen to Dr. Pastinen’s interview about Genomic Answers for Kids.
Ethical and Patient-Centered Genomic Research
New technologies like genomic sequencing can bring questions about how they should best be used. Genomic Answers for Kids has an advisory group, the Ethical, Legal, and Social Issues (ELSI) Advisory Group, tasked with studying and addressing these questions within Genomic Answers for Kids. The advisory group includes parents of children with rare diseases, genomics researchers, genetic counselors, clinical geneticists, bioethicists, and health outcomes researchers; all bringing their unique viewpoints to the table.
The ELSI Advisory Group partnered with the Rare Voices advisory group to complete a 2-year community engagement project to develop a patient- and family-centered research agenda for issues faced by families across the variety of rare conditions.
You can fuel answers for waiting families
Donors like you will fuel answers for waiting children and families. Give today and support the discoveries of tomorrow.