In honor of Rare Disease Day February 28, 2022, we are excited to present Genomenon’s “Our Rare Stories” Live Blog, where we will be compiling articles, informative webinars, press releases, and other compelling resources that all play a part in highlighting the inspiration for our mission—patient stories.

Monday, FEBRUARY 28, 2022

“Our Rare Stories” has featured a diverse and information-packed collection of narratives from patients, caregivers, researchers, parents, and advocates. You have also had a chance to see how genomic intelligence and the power of continued innovation within rare disease has left an indelible mark, not only on the way we treat these diseases, but also the way we perceive their outcomes. With more science comes more hope for the future—and for Genomenon, one of the most powerful examples of this has been our work with Rady Children’s Hospital.

Today’s Rare Disease Day resources include the heartwarming video story of Fitz, a baby born with a rare immune deficiency, and the herculean efforts of his genomics care team at Rady. You’ll also find a GenomeWeb webinar where Dr. Stephen Kingsmore, President and CEO of Rady Children’s Institute for Genomic Medicine, provides an overview of their literature curation process that is powered by the Mastermind Genomic Search Engine. Finally, you’ll read an amazing story of how, in the face of a daunting diagnostic odyssey, Mastermind succeeded over other research tools—and saved a newborn baby’s life.

Featured Mastermind Story | Fitz’s Story

Rady Children’s Institute for Genomic Medicine

Rady Children’s Institute for Genomic Medicine is a non-profit research organization embedded within Rady Children’s Hospital in San Diego. After pioneering a medical revolution to end the diagnostic odyssey for neonatal and pediatric rare disease, RCIGM now has their sights set on ending the therapeutic odyssey. One of these patients was Fitz.

Fitz’s newborn screening revealed a severe immune deficiency requiring urgent medical attention. Upon arriving at Rady, whole genome sequencing and the use of the Mastermind Genomic Search Engine revealed a mutation in his genetic code within 92 hours – leading to a confirmed diagnosis of ARTEMIS-deficient severe combined immunodeficiency (SCID). Fortunately for the Kettler’s, this diagnosis shifted the outlook for Fitz’s future from uncertainty to hope. Watch Fitz’s story below:

GENOMICS WEBINAR | Rapid Whole Genome Sequencing

How Rady Children’s Institute Is Increasing Diagnostic Yield and Improving Outcomes

In this GenomeWeb webinar, Dr. Stephen Kingsmore, President and CEO of Rady Children’s Institute for Genomic Medicine, gives an executive overview of the two-time world-record-setting Rady rWGS method, followed by a deeper examination of the institute’s analysis and interpretation pipeline by Dr. Katarzyna (Kasia) Ellsworth. The presentation includes a demonstration of the Rady literature curation process that is powered by the Mastermind Genomic Search Engine.

“Using Mastermind enhances our ability to provide clinicians at the bedside with important relevant information about known treatments and interventions.” Dr. Stephen Kingsmore, President and CEO, Rady Children’s Institute for Genomic Medicine

MASTERMIND STORY | Mastermind Uncovers Baby’s Rare Immunodeficiency

The need for speed was evident when a week-old baby showed signs of an immune deficiency (SCID, or severe combined immunodeficiency). He was doing well in the neonatal ICU, but was at risk of developing severe recurrent viral bacterial and fungal infections, along with failure to thrive. But where other research tools failed, Mastermind succeeded. Find out how by reading the full Mastermind Story below.

#RAREDISEASEDAY | Follow Rady Children’s Institute for Genomic Medicine on Social Media


Friday, FEBRUARY 25, 2022

Featured Rare Disease Partner Organization

CACNA1A Foundation

CACNA1A is a gene that plays a vital role in the communication between neurons in the brain. Mutations in CACNA1A variants are associated with multiple neurological disorders, and patients exhibit a vast array of mild to severe symptoms, including neurodevelopmental differences, epilepsy, migraines, and eye disorders. Currently, there is no way to cure CACNA1A-related disorders, and treatment depends on the type of symptoms that a person has—however, a genetic diagnosis can provide access to appropriate treatments, as well as a means of connecting to other affected individuals and families.

The CACNA1A Foundation is an organization whose mission is to find specific treatment options and a cure for affected patients by building a collaborative network of patients, families, clinicians and scientists that work together to raise awareness and accelerate the understanding, diagnosis and treatment of CACNA1A-linked diseases. Partnering with Genomenon, the CACNA1A Foundation uses the Mastermind Genomic Search Engine to supplement this herculean effort with as much data-driven certainty as possible. Widely recognized by their work, the CACNA1A Foundation was recently inducted as a member of COMBINEDBrain, a non-profit consortium of 25 patient-advocacy foundations for rare genetic neurodevelopmental disorders.

Today’s post contains a wealth of CACNA1A Foundation resources that detail their life-changing work, including an abridged documentary detailing the organization’s purpose and origin, and a Q&A with co-founder and President, Lisa Manaster.


Together We Can Push Science Forward

In this abridged version of the CACNA1A Foundation documentary, executive members of the CACNA1A team discuss the origins of this organization, and the founder’s inspiring quest for a cure for this rare genetic disease.