rare disease day 2022

Genomenon forges rare-disease partnership with advocacy group

By Jenni Spinner

- Last updated on GMT

(Patrick Fraser/iStock via Getty Images Plus)
(Patrick Fraser/iStock via Getty Images Plus)

Related tags neurodegenerative diseases Rare disease Patient centricity Pediatrics CNS

The AI-centered genomics company is joining with Don’t Forget Morgan, a group for patients with BPAN, to explore treatments for the neurodegenerative condition.

Genomenon, a genomics company that uses artificial intelligence (AI) to connect patient DNA to research data in pursuit of treatments for rare genetic diseases and cancers, has partnered with the rare-disease support organization Don’t Forget Morgan. The partnership will provide various resources for researchers and encourage pharmaceutical companies to invest in solutions for Beta-Propeller Protein-Associated Neurodegeneration, a progressive disease that causes abnormal iron deposits in the brain, causing developmental delays.

Don’t Forget Morgan was founded by BPAN moms Kelly Kozole, a senior vice president with the Detroit Lions football team, and Christina Ftikas, senior director at Xerox. The group’s accomplishments include funding research at major facilities, including the University of Michigan and Sanford Research; co-funding a gene therapy research grant at Massachusetts General with Harper’s Hope Foundation; and creating a BPAN Clinic at Children’s Hospital of Philadelphia (CHOP).

The goal of our partnership is to accelerate the discovery of a treatment for BPAN. The comprehensive genomic landscape of this genetically-driven disease enables researchers to more quickly identify the molecular drivers of the disease and validate drug targets​,” said Mike Klein, CEO of Genomenon. “We hope to take years off the front end of the drug discovery process with the use of this genetic knowledge and shorten the time to develop a treatment that can save these children’s lives​.”

Kelly Kozole, executive director of Don’t Forget Morgan, spoke with Outsourcing-Pharma about the partnership, and the future of research and treatments for BPAN patients.

OSP: Could you please tell a bit about BPAN—how rare this rare disease actually is, how it impacts patients, etc.

KK: BPAN is extremely rare, even for a rare disease, with only an estimated 500 people in the world diagnosed. If there were proper testing, the number could be up to 10,000 worldwide.

BPAN is a disease of varying impact as the phenotypes are a wide spectrum and some kids cannot walk, talk or self-feed while some do have those abilities. Generally, most BPAN kids are also impacted with recurrent seizures, global delays, and autism-like disorders.

OSP: Please share your thoughts about progress (or lack thereof) in the pursuit of a treatment and cure for the condition.

KK: It’s heartbreaking as a parent to learn that your child or loved one has a rare disease, and then to hear from your doctor that there is no cure and no therapy…it’s a devastating blow. When there are no options for your child, that’s when you look to see what else can we do as parents to help our children.

That is why Don’t Forget Morgan was formed. We are a group of working moms that came together to raise awareness and funding to support new research grants. Our organization was formed right before the pandemic in Feb of 2020 and in two years has funded over $900,000 in research grants to the University of Michigan, Stanford, and Harvard.

OSP: Could you please tell us about Don’t Forget Morgan, and all the efforts and programs it’s launched on behalf of BPAN patients?

KK: One of our founders is Christina Ftikas and she has been working with CHOP to start a BPAN clinic​. It’s great to have a team of experts that are familiar with the disease, can provide guidance to families, and are gathering valuable research.

OSP: Then, please tell us about the partnership with Genomenon and why it offers hope and good news to BPAN patients (and BPAN moms).

KK: We are extremely grateful for companies like Genomenon that are helping out small nonprofits like our organization. It’s exciting that Genomenon is located right in our backyard and to have access to a platform that our researchers can utilize as we forge on our journey to find a cure for BPAN.

It’s a race against the clock for our kids that are suffering with BPAN, and it's companies like Genomenon that bring us a renewed faith that one day we will find a cure.

Rare and genetic diseases took center stage at Outsourcing-Pharma’s recent Rare and Orphan Diseases webinar. To hear from the three industry expert presenters, register to view the webinar on-demand here.

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