Daniel Falik and Prof. Gad Vatine (Photo Danny Machlis, Ben-Gurion University)+
Prof. Gad Vatine of Ben-Gurion University of the Negev (BGU) and Dr. Avraham Ashkenazi of Tel Aviv University (TAU) teamed up to help children with a rare form of sleep apnea called congenital central hypoventilation syndrome (CCHS), also known as Ondine’s curse. Their collaboration, they say, has yielded important new information about the cause of CCHS, which could lead to future treatments.
Vatine is an expert in studying rare disorders using patient-specific stem cells, and Ashkenazi is an expert in tri-nucleotide repeat expansion disorders and protein clearance pathways.
Snoring is not just a problem for your spouse/partner, or the neighbors, or the people across the street. It can cause breathing problems while you sleep which can be bad for your heart.
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Sleep apnea is a sleep disorder that causes you to stop breathing repeatedly while you sleep. These pauses can last from a few seconds to a minute or more and can occur dozens of times per hour. When your breathing stops, your brain and body don’t get enough oxygen. This can lead to a number of health problems.
Obstructive sleep apnea (OSA) is a sleep disorder characterized by repeated pauses in breathing during sleep. These pauses can last for several seconds or even minutes and occur many times per night. During these pauses, your oxygen levels drop, and your brain briefly wakes you up to start breathing again. This cycle can disrupt your sleep and leave you feeling tired and irritable during the day.
Congenital Central Hypoventilation Syndrome (CCHS) is a rare and serious neurological disorder that affects the body’s ability to control breathing. People with CCHS have difficulty breathing, especially during sleep, and they may need assistance with a ventilator to breathe effectively.
CCHS is caused by a mutation in the PHOX2B gene, which is responsible for the development of certain nerves in the brainstem. These nerves control the autonomic nervous system, which regulates involuntary body functions such as breathing, heart rate, and blood pressure. In people with CCHS, the mutation in the PHOX2B gene disrupts the development of these nerves, which can lead to a variety of symptoms,
Children with CCHS severely under-breathe when they are asleep, but breathing is not normal when they are awake either. There is no cure for CCHS, and it lasts one’s entire life. There are no medicines that will correct the under-breathing problem. Therefore, these children require ventilator assistance for life.
“Using personalized, cutting-edge technologies, we have uncovered insights that can pave the way for significant advances in the disease therapeutics,” said Daniel Falik.
“I am thrilled with the progress we have made in identifying defective pathways in CCHS, as this opens up exciting research avenues to explore the development and function of the ANS,” said Fatima Amer-Sarsour.
