CURE GABA-A

Cure GABA-A | Phenotypic Manifestations Observed in Individuals with GABAAR
2024-02-20 11:00 - 12:00 (America/Los_Angeles)
Gain insights and understanding into the impact of these variants on distinct traits.

Cure GABA-A | Educational Session with Q&A | Phenotypic manifestations observed in individuals with GABAAR Variants
Join us for an educational session with Dr. Sebastian Ortiz.
Dr. Sebastian Ortiz is presently engaged in a comprehensive examination of the phenotypic manifestations observed in individuals possessing GABAAR variants. His aim is to enhance comprehension of the intricate networks and systems implicated in the pathophysiology of these disorders. Additionally, he endeavors to equip clinicians with tools facilitating the early identification of these disorders.
Dr. Sebastian Ortiz is actively engaged in international epilepsy communities, serving as the Chair of the Young Epilepsy Section from International League Against Epilepsy (ILAE) from September 2023 to September 2025. His contributions to various international congresses, including the International Epilepsy Congress and Latin American Epilepsy Congress, reflect his dedication to advancing knowledge in his field.
A multilingual professional, Sebastian is fluent in Portuguese, Spanish, English, and has a basic proficiency in French and Danish. He is a member of prestigious associations such as the Danish Epilepsy Society, International League Against Epilepsy (ILAE), American Academy of Clinical Neurophysiology.

Join Cure GABA-A and Dr. Sebastian Ortiz on February 20th, 2024, at 11:00 AM PST for an educational session. For more details, contact us on our socials or email: monica@cureGABAa.com.
Can’t make it in person? Don’t worry – This session will be recorded and uploaded to the Cure GABA-A YouTube channel for your convenience.

Join us in our collective mission to improve t

Cure GABA-A | Basic Genetic Concepts | Laina Lusk
2024-02-15 08:45 - 09:45
Join us for an enlightening session with Dr. Laina Lusk, a dedicated genetic counselor in the division of neurology at CHOP

Family Presentation with Laina Lusk
Cure GABA-A | Webinar | Insights from a Genetic Counselor: Childhood Epilepsy and Neurodevelopmental Disorders
Join us for an enlightening session with Laina Lusk, a dedicated genetic counselor in the division of neurology at the Children’s Hospital of Philadelphia (CHOP).
Laina Lusk’s research interest lies in unraveling the genetic mechanisms and clinical phenotypes associated with childhood epilepsy and related neurodevelopmental disorders. Armed with a BS in neuroscience from Bucknell University and an MMSc in human genetics and genetic counseling from Emory University, she brings a wealth of knowledge to her role.
With prior clinical experience as a cancer genetic counselor and a background in neurodevelopmental disorders research, Laina plays a crucial role in the Helbig Lab. As a clinical liaison, she actively contributes to phenotyping projects, furthering our understanding of these complex conditions.
Join Cure GABA-A and Laina on 2/15 at 8:45am PST for an insightful exploration of childhood epilepsy and neurodevelopmental disorders from a genetic counselor’s perspective. For more details, contact us on our socials or email: info@curegabaa.org
If you are unable to attend in person, rest assured – the session will be recorded and made available on the Cure GABA-A YouTube channel for your convenience.

Join us in our shared mission to enhance the lives of patients with GABA-A Variants and contribute to a brighter future.

Cure GABA-A | Recommended Physician Meet and Greet | Dr. Pamela Pojomovsky
2024-02-15 08:45 - 09:45
Dr. Pamela Pojomovsky McDonnell, MD, pediatric neurologist, Cure GABA-A’s Recommended Physicians at Children’s Hospital of Philadelphia.

Join us for an educational session with Dr. Pamela Pojomovsky McDonnell, MD, pediatric neurologist, Cure GABA-A’s Recommended Physicians at Children’s Hospital of Philadelphia.
Pamela Pojomovsky McDonnell, MD, is a pediatric neurologist in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP). She specializes in helping children with epilepsy. Dr. McDonnell had a personal reason for choosing her specialty.
“My sister had epilepsy when she was a child, which made me want to help children and families with neurologic conditions,” she says. “I later developed an interest in science and particularly in how the brain works.” She notes that although epilepsy affects just 1% of the population, it’s morbidity is quite high. Fortunately, many tools are available to help control the disorder. A native of Argentina, Dr. McDonnell enjoys working with Spanish speakers who may otherwise have trouble accessing appropriate care due to language barriers. Along with her clinical work, she is an Assistant Professor of Neurology at the Perelman School of Medicine at the University of Pennsylvania.
Dr. McDonnell is enthusiastic about new developments in genetics that may one day allow doctors to predict the course of epilepsy and target treatments accordingly. She is a member of the Epilepsy Neurogenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia (CHOP), where she evalutes all children with neurodevelopmental disorders with or without epilepsy but she has a specific focus in children with pathogenic variants in the SLC6A1 gene and works closely with the SLC6A1 Connect group.
When caring for children, Dr. McDonnell is reminded of her sister and the comfort of knowing medical professionals were helping to manage her epilepsy. “I am always inspired by the doctors that helped our family,” she says. “And as your doctor, I care about your child and your family as if they were my own. I hope that is an experience that can be taken from every visit at CHOP.”
Join Cure GABA-A and Dr. Pamela Pojomovsky McDonnell on 2/15 at 8:45-9:45 PST for an educational and insightful session.
If you are unable to attend in person, rest assured – the session will be recorded and made available on the Cure GABA-A YouTube channel for your convenience.

Join us in our shared mission to enhance the lives of patients with GABA-A Variants and contribute to a brighter future.

Cure GABA-A | What is Project FIND-OUT with Elizabeth Rountree
2024-02-13 13:00 - 14:00
The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders

For Families Project FIND-OUT

The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders in infants between the ages of 3-12 months in the United States.
Families who participate will receive the following free services:

Meet with a genetic counselor
Report with your child’s genetic testing results
Connect with a specialist, who can help you understand next steps and potential treatment options
Participate in research

By participating in Project FIND-OUT, you will contribute to an important research study on the value of genetic testing. We hope this study will lead to the development of guidelines for physicians and health insurance companies. Having guidelines may make it easier for other families to get genetic testing in the future and a genetic diagnosis in the future. Lastly, getting children diagnosed earlier will speed up access to new treatment options

Cure GABA-A | Recommended Physician Meet and Greet with Dr. Andres Jimenez
2024-02-09 10:00 - 11:00
Cure GABA-A | Recommended Physician Meet and Greet with Dr. Andres Jimenez Gomez

Join us for an educational meet and greet session with Dr. Andres Jimenez Gomez, MD, a Colombian-born physician with triple board certification in Pediatrics (Cincinnati Children’s Hospital), Pediatric Neurology, and Neurodevelopmental Disabilities (Texas Children’s Hospital).
Dr. Jimenez Gomez is currently the director of the Neurodevelopmental Disabilities Program at Joe DiMaggio Children’s Hospital in South Florida. He is deeply invested in the care of children with neurogenetic and neurodevelopmental conditions, particularly Developmental and Epileptic Encephalopathies. His established clinical care and research trajectory focus on expanding awareness, standardizing diagnosis and care, and increasing education and awareness in the medical community about such conditions, with a special emphasis on Latin America and the predominantly Spanish-speaking population in the US.
Our NDD Program: The Neurodevelopmental Disabilities Program at Joe DiMaggio Children’s Hospital, directed by Dr. Jimenez Gomez, provides comprehensive, state-of-the-art, innovative, and humanistic care for children and young adults with neurodevelopmental disorders. The program offers multidisciplinary and comprehensive evaluations, incorporating elements of evidence-based care and complementary, holistic, patient- and family-centered practices unique to the region. Comprehensive developmental evaluations for autism, a multidisciplinary complex neurodevelopment/complex autism clinic, a multidisciplinary neuro-behavioral clinic, and a Developmental and Epileptic Encephalopathies (Genetic Epilepsies) clinic are among the services provided. The program actively participates in national clinical trials, offers Autism support groups, maintains a resource database, and provides an in-house network of therapists.
Our DEE Program: The Developmental and Epileptic Encephalopathies Clinic at Joe DiMaggio Children’s Hospital, under the leadership of Dr. Jimenez Gomez, provides comprehensive and multidisciplinary care for children and young adults with difficult-to-control epilepsy and associated developmental impairments such as developmental delay and autism. Full evaluations are conducted by board-certified pediatric epileptologists and a neurodevelopmental neurologist, alongside a pediatric geneticist, a neuropsychologist, and other advanced practice providers. The clinic offers services in epilepsy care as well as development and behavior, support in genetic consultation for resolution/analysis of Variants of Uncertain Significance (VUS), and referral when necessary for consultation for advanced epilepsy care, including ketogenic diet clinic and possible surgical interventions. The program also offers participation in clinical trials in the field.
Join Cure GABA-A and Dr. Andres Jimenez Gomez on 2/19/2024 10:00 AM PST for an educational and insightful session. For more details, contact us on our socials or email: info@curegabaa.org
If you are unable to attend in person, rest assured – the session will be recorded and made available on the Cure GABA-A YouTube channel for your convenience.

Join us in our shared mission to enhance the lives of patients with GABA-A Variants and contribute to a brighter future.

Cure GABA-A | Dr. Henry Lee | Understanding of GABAergic Signaling
2024-02-08 11:00 - 12:00
Dr. Lee made a significant discovery highlighting the role of phosphorylation-dependent turnover of the potassium chloride co-transporter

Cure GABA-A | Webinar | Understanding of GABAergic Signaling
Join us for an educational session with Dr. Henry Lee.
Dr. Henry Lee is a molecular neurobiologist with a specialized interest in comprehending the molecular processes governing neuronal inhibition, brain plasticity, and functional recovery within the context of brain development and trauma. Through the integration of molecular biology and electrophysiology techniques, Dr. Lee made a significant discovery highlighting the role of phosphorylation-dependent turnover of the potassium chloride co-transporter KCC2 in controlling Cl- mediated GABAergic inhibition (Lee et al., Nat Neurosci, 2011). Employing innovative genetic mouse models, he further investigated a paracrine signaling mechanism crucial for critical period (CP) plasticity control (Spatazza, Lee et al., Cell Rep, 2013; Lee et al., Mol Psychiatry, 2017).
Dr. Lee’s translational research extends to the realm of functional recovery post-nerve damage (Bei, Lee et al., Cell, 2016) and traumatic brain injury (Hsieh, Lee et al., Cerebral Cortex, 2016). His recent focus centers on SSADH deficiency, a rare inborn GABA metabolic disorder. Dr. Lee is actively engaged in the development of a specialized mouse tool for SSADH, allowing ‘on-demand’ SSADH restoration. This endeavor is directed towards contributing to the preclinical advancement of innovative therapies for SSADH deficiency.
Join Cure GABA-A and Dr. Henry Lee on February 8th, 2024, at 11:00 PM PST for an educational session. For more details, contact us on our socials or email: monica@cureGABAa.com.
Can’t make it in person? Don’t worry – This session will be recorded and uploaded to the Cure GABA-A YouTube channel for your convenience.

Join us in our collective mission to improve the lives of patients with GABA-A Variants and work toward a brighter future.

Cure GABA-A | Educational Session | Importance of overnight EEG monitoring
2024-02-05 11:00 - 12:00
The Importance of overnight EEG monitoring when tracking genetic epilepsy and assessing the efficacy of treatment

Join us as Brad Levy from EEG2GO, will share his incredible journey into the world of epilepsy and discuss “The Importance of overnight EEG monitoring when tracking genetic epilepsy and assessing the efficacy of treatment.”
In 2005, Brad had no prior medical experience until his daughter’s sudden onset seizures and epilepsy diagnosis. He founded the Epilepsy Awareness Day at Disneyland, which has grown into a significant annual event. This year’s event expected participation from around 100 epilepsy support groups and 2,000 individuals.
Driven by his passion for the Autism community, Brad took on the challenge of creating an ideal EEG equipment and protocol in collaboration with Lifelines Neurodiagnostics and Dr. David Millett in 2015. He actively seeks out well-trained epilepsy specialists to enhance their referral network and speaking roster at the EAD Expo.
Today, Brad’s service offers patients an alternative to hospitals and inpatient EEG services, focusing on comfort and data collection efficiency.
Join us as Brad highlights the importance of overnight EEG monitoring when tracking genetic epilepsy and assessing the efficacy of treatment.
Can’t attend in person? No problem! This session will be recorded and available on our Cure GABA-A YouTube channel for your convenience.
Join us in our collective mission to improve the lives of patients with GABA-A Variants and work towards a brighter future.

Cure GABA-A | Family Presentation with Dr. Nazanin Azarinejad Mohammadi
2024-01-29 10:00 - 11:00
Unraveling GOF vs LOF GABRB2 Disease: Insights from Dr. Mohammadi’s Research

Join us for an educational session with Dr. Nazanin Azarinejad Mohammadi, who recently defended her PhD thesis entitled “Clinical and functional characterization of GABAA-receptor related disorders: translating genetic diagnostics into personalized treatment” on 18.01.2024.
Under the guidance of Prof. Rikke S. Møller and Assoc. Prof. Philip K. Ahring, Dr. Mohammadi’s groundbreaking research has unraveled the complexities of GOF (gain-of-function) vs LOF (loss-of-function) GABRB2 disease.
In her studies, Dr. Mohammadi demonstrated, for the first time, that GABRB2 variants can lead to both GOF and LOF GABAA receptors, with the associated phenotypes strongly linked to the functional outcome. Notably, patients in the GOF group exhibited more severe phenotypes than those in the LOF group.
Additionally, the research revealed that M1 proline substitutions in GABRA1, GABRB2, GABRB3, or GABRG2 all result in GOF receptors, indicating a subunit-independent functional effect. Patients with these variants displayed similar severe phenotypes, aligning with their receptor function.
Dr. Mohammadi’s groundbreaking findings shed light on the intricate nature of genetic variants in the GABAA receptor, showing their association with severe epilepsy and their ability to either decrease or increase the GABA sensitivity of the receptor. This discovery not only enhances genetic counseling for patients but also lays the foundation for the development of personalized treatment strategies.
Join Cure GABA-A and Dr. Nazanin Azarinejad Mohammadi on 1/29/2024 at 10:00am PST for an insightful exploration of GOF vs LOF GABRB2 disease. For more details, contact us on our socials or email: .
If you are unable to attend in person, rest assured – the session will be recorded and made available on the Cure GABA-A YouTube channel for your convenience.

Join us in our shared mission to enhance the lives of patients with GABA-A Variants and contribute to a brighter future.
