CHF Science Around the World

In our last newsletter, we shared highlights from our organization's first year in operation. In this issue, we share what our scientific community has been up to.

Expanding research collaborations in Asia

Dr. Arnaud Monteil, the Director of CHF's Scientific Advisory Board, was invited to present his NALCN research in Thailand and China. This has helped to strengthen research collaborations in Asia aimed at studying NALCN and identifying therapies for NALCN patients.

Some of these events included presenting at:

Mahidol University, Bangkok, Thailand with Dr. Yingrak Boondam

ICNB2024 & TNS27 Conference: Neuro-Enhancement for Brain Health, Hua Hin, Thailand

Laboratory of Anesthesia and Critical Care Medicine, National-Local Joint Engineering Research Centre of Translational Medicine of Anesthesiology, West China Hospital, Sichuan University, Chengdu, China. Invited by Professor Dr. Cheng Zhou, a member of CHF's Scientific Advisory Board.

2024 International Academic Week of West China Hospital on Perioperative Medicine/The West China Anesthesiology Frontier Forum, Chengdu, China

Excitingly, two new members agreed to join our Scientific Advisory Board from Asia:

**Dr. Hiromasa Funato** is a neuroscientist and psychiatrist who is working to elucidate the role of NALCN in sleep and related behaviors. His team recently found NALCN is required for proper maintenance and termination of REM sleep episodes.

**Dr. Cheng Zhou**'s research has helped to reveal the role of NALCN in the effects of anesthetics and analgesics. His team also investigates NALCN in neuropsychiatric disorders with the goal of determining the pathophysiology for treating neurologic symptoms in patients affected by NALCN-related diseases.

2024 ERA-NET Symposium in Germany

Drs. Isabel del Pino Pariente and Antonio Gil-Nagel Rein, two members of our Scientific Advisory Board, presented a summary of the collaborative groundbreaking work performed by the RestoreLeak research consortium on NALCN and related diseases. Conference participants reigned from Sweden, Finland, Estonia, Latvia, Ireland, Portugal, Spain, France, Belgium, Germany, Italy, Switzerland, Israel, Hungary, and Romania.

Patients and Scientists unite in Denmark!

Scientific Advisory Board Member, Drs. Stephen Pless and Nadine Ritter hosted NALCN patients and families at their lab in Copenhagen. The families learned about the Pless Lab's research on their exact rare genetic variant. Maya, Leo and Henry also donated blood samples, with their parents' permission of course, to further foster the development of novel iPSC cell lines and resources to study NALCN channel-related mutations and disease. What an amazing gift to our community!

NALCN Warriors Maya, Leo, and Henry with their siblings and researchers, Stephen and Nadine, in Copenhagen, Denmark

RARE Drug Development Symposium

Dr. Jeremy Tanner, CHF's Chief Scientific Officer, attended the Rare Drug Development Symposium in Philadelphia, PA, USA to meet with international experts, rare disease organizations, researchers, and therapy experts to learn strategies on advocating and facilitating the development of novel therapies for NALCN and related diseases. These connections and resources have since led to numerous ongoing initiatives to help us to identify research gaps and chart a strategy forward for how Channeling Hope can support future NALCN-related disease therapy development. The new NALCN disease registry and natural history studies are a key gap that we hope to address with everyone's help!

WeekinRARE | RARE Advocacy Summit

Marketing Director Jill Wahl represented CHF at Global Genes Week in RARE event in Kansas City, MO, USA. The event provided invaluable insights on growing our advocacy community, advancing patient-oriented research, partnering with pharmaceutical companies, planning a rare disease conference, harnessing the power of data, and more.

In connection with this event, Dr. Monteil was nominated as a Rare Champion in Research for his outstanding scientific contributions studying NALCN and his unwavering support for the patient community. In the 24+ years he’s dedicated to better understanding NALCN, his pioneering work includes elucidating the pathophysiology of the NALCN ion channel and its relation to rare neurodevelopmental diseases. As a longstanding figure in the patient community, "Arno" consistently demonstrates responsiveness, support, and thoughtfulness, welcoming new families and answering questions when new research is published. His selfless devotion to our community exemplifies his profound passion for making a positive impact in the lives of others!

Save the Date

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We're excited to announce plans for the next international NALCN-related (NALCN, UNC80, UNC79, FAM155) research and family conference! The dates are October 10-12, 2025 in San Antonio, TX, USA. We would love for as many researchers, families, and individuals with NALCN-related diseases to join! We will kickstart the first natural history study of NALCN-related disorders (CLIFAHDD, IHPRF 1 & 2) at the conference.