Being the parent of a child with an ultra-rare disease can be a daunting challenge.

Nasha Fitter is no different. Her daughter Amara is nonverbal and suffers from epileptic seizures, two of the common symptoms associated with her eventual diagnosis of an ultra-rare neurodevelopmental disorder known as FOXG1 Syndrome. Motivated by her desire to learn more about this condition, she co-founded the FOXG1 Research Foundation (FRF) with her fellow peers.

Through all the challenges they’ve faced, Nasha and FRF are set to conduct critical research in the hopes of developing a treatment for not just this condition, but other ultra-rare diseases primarily affecting children to eventually give them “the life they deserve.”

Join us as we conclude season five where Nasha discusses the origins of FRF, how Amara’s life has been shaped by her diagnosis, how collaboration has helped advance the Foundation’s mission, and what you can do to support their ultimate goals.

Show Notes

• FOXG1 Research Foundation
• FOXG1 Research Foundation's Nasha Fitter Speaks at the White House Rare Disease Forum
• Rare Disease | Charles River
• CRISPR/Cas9 Gene Editing | Charles River
• ASO Screening and Profiling

Imagine giving birth to a baby girl and noticing pieces of skin missing from her body almost immediately.

For Sharmila Nikapota, this was the case with her firstborn, Sohana. Genetic testing revealed that she was one of the over 500,000 people globally suffering from Epidermolysis Bullosa (EB), a “constantly painful and debilitating” skin condition where minimal contact can lead to blisters, wounds, tissue damage, eating difficulties, and eye injuries, among other symptoms. After seeking answers for her daughter’s prognosis and not getting any, Sharmila started Cure EB to educate people and eventually discover ways to manage this painful condition. With the UK approving a first-of-its-kind topical treatment for EB, she hopes it’s the first of many that can give patients like her daughter a better quality of life.

Join Sharmila as she discusses how Sohana’s experience with EB has shaped her personality, the origin and mission of Cure EB, the challenges of managing Sohana’s condition, and what you can do to further Cure EB’s ultimate goals.

Show Notes

Cure EB - Accelerating Research to End Painful Skin
Birch Bark Extract: A Review in Epidermis Bullosa
Charles River | Cell and Gene Therapy
Charles River | Rare Disease
Eureka Blog | Living Rare
Krystal Biotech Touts Topical Gene Therapy Uptake

Stimulant use in the United States has exploded into a nationwide crisis, as deaths and emergency room visits resulting from methamphetamine and cocaine use are rising at an alarming rate.

The overall substance abuse disorder crisis is further exacerbated by the high level of fentanyl use, which has long been referred to as an opioid epidemic, and the increasing use of more than substance at once. One fundamental limitation on the ability to respond to the crisis is that, to date, there is no FDA-approved therapeutic to treat overdose from stimulants like methamphetamine and cocaine, or polydrug. Users who want to get clean and rid themselves of methamphetamine, cocaine, and/or fentanyl often find it difficult, essentially “chaining” themselves into a cycle of use that’s mostly impossible to break.

First responders and emergency department physicians lack sufficient tools to treat overdose. But what if there was a treatment that could eliminate toxins and restore normal bodily function within minutes? That’s the aim of Clear Scientific, a small biotech in Cambridge, MA that’s currently testing a treatment (CS-1103) using small molecules to “eat” toxins and deactivate their harmful effects almost instantly. With Phase I of a first-in-human (FIH) clinical trial ongoing, this revolutionary therapeutic is offering hope to those suffering from drug misuse and addiction a “chance to get better.”

Join us as Mitch Zakin, Co-founder and Executive Vice President of Innovation, and Winston Henderson, Co-founder and General Counsel, discuss their therapeutic approach, offer an update on their progress with CS-1103, how collaboration has enhanced their development, and how they hope it will eventually impact this epidemic.

Show Notes

Clear Scientific

World Congress: Drug Modality Game Changers

Clear Scientific to Start Phase 1 Trial for Stimulant Antidote

Charles River | IND-Enabling Studies

Charles River | Small Molecule