#ScienceSaturday posts share relevant and exciting scientific news with the KAND community. This project is a collaboration between KIF1A.ORG’s Research Engagement Team Leader Alejandro Doval, President Kathryn Atchley and Science Communication Director Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

KIF1A News

Ovid Therapeutics Announces Strategic Research Collaboration Focused on Accelerating the Development of New Treatments for Rare Neurological Diseases

This week the KIF1A community is celebrating an important milestone: Ovid Therapeutics and Columbia University have joined forces to accelerate development of treatments for KIF1A Associated Neurological Disorder and other rare conditions. You can read our announcement here

“Joining forces with Columbia and Dr. Chung, a world-class clinical geneticist, will enable Ovid to begin to build a robust gene and molecular therapy platform for the future treatment of inherited neurological conditions.”

Amit Rakhit, M.D., MBA, President and Chief Medical Officer, Ovid Therapeutics

“We are excited to partner with Ovid and the patient community to help advance these programs into clinical trials for development of new potential therapies.”

Wendy K. Chung, M.D., Ph.D., Chief of Clinical Genetics, and leader of the Precision Medicine Resource in the Irving Institute at Columbia University Irving Medical Center

Rare Disease News

BIO Digital

BIO, the world’s largest biotech trade association, hosted BIO Digital this week with over 7,000 participants coming together to discuss the latest in biotechnology. Several sessions were focused on rare diseases, therapeutic development and patient advocacy, including “Race Against the Clock: Bringing New Cell and Gene Therapies to Market” and “Understanding the Voices of Patients: Unique Perspectives on Healthcare.”

You can watch select sessions on-demand for free here, including “Leading Through Crisis: Speaking Up and Out on Equity, Diversity, and Inclusion Issues Impacting Our World.”

We’re proud to see Dr. Jeremy Levin, CEO of Ovid Therapeutics, taking part in this important conversation.


  • Michelle McMurry-Heath, MD, PhD, President & CEO, BIO
  • Tony Coles, MD, CEO, Cerevel Therapeutics, LLC
  • Jeremy Levin, MB BChir, D. Phil, CEO, Ovid Therapeutics Inc.
  • Ted Love, MD, President & CEO, Global Blood Therapeutics

RARE Drug Development Symposium

This week Global Genes also hosted their RARE Drug Development Symposium. Our very own Dr. Dominique Lessard was a featured speaker during the session “Data-Driven Approaches to Optimize Research Uptake.” All sessions will become available for viewing at Rare University in the coming weeks. Click the image below to learn more.

Scientists rescue mini retinas from eye disease via new gene therapy approach

In a past issue of Science Saturday, we discussed recent developments of therapeutic progress for retinitis pigmentosa (RP). Resulting from mutations in the RP2 gene, RP has no therapeutic treatment and leads to blindness over time. This article discusses a novel approach to treating RP by creating “mini retinas” using a combination of gene therapy and stem engineering. Intriguingly, these “mini retinas” not only simulate RP, but they are able to successfully integrate a functional version of the RP2 gene to produce a non-mutated protein. Read the article to learn more!

“For the last 30 years there has been a lot of buzz about gene therapies and their potential for treating a huge variety of debilitating diseases and disorders, but it is really only recently that science has overcome difficulties associated with such approaches and begun to bring potential therapies far closer.”

Dr. Ciara Shortall

Sensorion Announces Positive Preliminary Preclinical Data From Its Otoferlin Gene Therapy Program

Here we have another great report of pre-clinical gene therapy results, this time in the field of hearing loss disorders. Sensorion, a clinical-stage biotech company, has announced promising new data for their program targeting a gene related to hearing loss known as OTOF. In these studies, Sensorion is using an adeno-associated viral-mediated approach to treat hallmark signs of hearing loss in animal models. These results are expected to be published and hopefully will lead to human clinical trials.

Sarepta’s Gene Therapy for Limb-Girdle Muscular Dystrophy Shows Promise

Continuing this week’s discussion of promising gene therapy studies, Sarepta Therapeutics recently announced encouraging results from a study focused on treating limb-girdle muscular dystrophy Type 2E (LGMD2E). LGMD2E, characterized by muscle weakness and loss of muscle mass, is an autosomal recessive disorder, meaning an affected individual must inherit two copies of a pathogenic gene variant. Sarepta Therapeutics’ SRP-9003 gene therapy approach was tested on a small cohort of human patients.

“We were very encouraged by the previously reported results from our first cohort of patients treated with a lower dose of SRP-9003, including impressive expression, good tolerability, and positive functional signals, which continue impressively at one year… These data support the conclusion that the therapy is achieving its intended purpose, driving robust expression in the muscles where it is needed.”

Douglas Ingram, CEO of Sarepta Therapeutics

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