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About 

Family Presentation with Dr. Andres Jimenez Gomez

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.

[YouTube Channel Link: www.youtube.com/@CureGABAa]

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

 

Presentation

About 

Family Presentation with Dr. Nazanin Azarinejad Mohammadi

Cure GABA-A | Family Presentation with Dr. Nazanin Azarinejad Mohammadi | 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: [Contact 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.

[YouTube Channel Link: www.youtube.com/@CureGABAa]

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

Register

About 

Family Presentation with Dr. Pamela Pjomovsky McDonell

Cure GABA-A | Recommended Physician Meet and Greet | Dr. Pamela Pojomovsky McDonell

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.

[YouTube Channel Link: www.youtube.com/@CureGABAa]

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

Register

About Dr. Laina Lusk

Family Presentation with Dr. Laina Lusk

Cure GABA-A | Webinar | Insights from a Genetic Counselor: Childhood Epilepsy and Neurodevelopmental Disorders

Join us for an enlightening session with Dr. Laina Lusk, a dedicated genetic counselor in the division of neurology at the Children’s Hospital of Philadelphia (CHOP).

Dr. 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 Dr. Laina Lusk on 2/15/2024 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.

[YouTube Channel Link: www.youtube.com/@CureGABAa]

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

Register

About Dr. Juliet Knowles

Family Presentation with Dr. Juliet Knowles

Cure GABA-A | Recommended Physician Meet and Greet | Dr. Juliet Knowles

Join us for an educational session with Dr. Juliet Knowles, MD, PhD, Cure GABA-A’s Recommended Physicians at Stanford University.

Dr. Juliet Knowles will provide valuable insights into the clinical presentation of GABR Variants and the latest advancements in current treatments. As a distinguished researcher, Dr. Knowles leads a dynamic lab at Stanford focusing on the mechanisms underlying pediatric epilepsy. Her research group is particularly interested in understanding generalized epilepsies, monogenic epilepsies, and developmental and epileptic encephalopathies. Notably, her lab recently uncovered an unexpected contribution of activity-dependent myelination to the progression of generalized epilepsy (J.K. Knowles et al, Nature Neuroscience, 2022).

Currently, the Knowles lab is investigating whether similar mechanisms are at play in various forms of genetic epilepsy, including GABA-A related epilepsy. Dr. Knowles, in addition to her research role, is a dedicated clinician providing specialty care for children with genetic and challenging-to-treat forms of epilepsy, making her a highly recommended physician in this field.

Join Cure GABA-A and Dr. Juliet Knowles on 4/22/2024 at 11am 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.

[YouTube Channel Link: www.youtube.com/@CureGABAa]

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

Register

About Dr. Michael Rogawski

Family Presentation with Dr. Michael Rogawski

Cure GABA-A | Webinar | Clinical Presentation of GABR Variants and Current Treatments

Join us for an educational session with Dr. Michael Rogawski.

Dr. Michael Rogawski, a professor and physician at UC Davis Health, will explain the Clinical presentation of GABR Variants and current treatments.

He has been elected a fellow of the National Academy of Inventors (NAI), the highest professional distinction for academic inventors. His inventions in drug discovery and development, particularly in the field of neuropharmacology, have led to significant advancements in treating epilepsy and neuropsychiatric conditions.

Dr. Rogawski’s election as an NAI fellow recognizes his prolific spirit of innovation and contributions to improving the quality of life through groundbreaking inventions. Notable achievements include the development of epilepsy drug perampanel (Fycompa®) and brexanolone (Zulresso™), the first FDA-approved drug for postpartum depression. His work reflects a dedication to translational research and collaboration within the scientific community.

Join Cure GABA-A and Dr. Michael Rogawski on Feb 13, 2024 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.

[YouTube Channel Link: www.youtube.com/@CureGABAa]

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

Register

About Dr. Henry Lee

Family Presentation with Dr. Henry Lee

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 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.

[YouTube Channel Link: www.youtube.com/@CureGABAa]

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

Register

About Dr. Sebastian Ortiz

Family Presentation with Dr. Sebastian Ortiz

Cure GABA-A | Educational Session with Q&A | Clinical Phenotype and Functional Characterization of Patients Harboring 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.

[YouTube Channel Link: www.youtube.com/@CureGABAa]

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

Presentation

About CRID

CRID with Gerry Nesbitt, MBA PMP

Cure GABA-A | Launch and Learn | CRID Onboarding

Join us for an educational session with Gerry Nesbitt.

CRID, Matrix and Bio Samples are all connected. Gerry Nesbitt will explain the onboarding process so that you can receive your CRID an identifier that could be used specifically for clinical research.

Gerry has earned a long-standing and solid reputation in healthcare and clinical research IT/Informatics, showcasing a track record of delivering innovative web-based technology platforms in medical research. From 2007 to 2014, he directed the informatics division for the global Epilepsy Phenome/Genome Project (EPGP), the Human Epilepsy Project (HEP), and Epi4K.

In 2014, Gerry designed and developed CLIRINX, a state-of-the-art web-based data collection system for epilepsy and rare disease clinical research. The CLIRINX system is utilized across multiple global research projects, including those at Lurie Children’s Hospital, Northwestern University, the Baylor College of Medicine, Dravet Foundation, Colorado Children’s Hospital, Emory University/Children’s Healthcare of Atlanta, FamilieSCN2A, University of Melbourne, DEE-P Connections and the SCN8A Alliance. These projects encompass natural history studies, clinical trial readiness studies, patient registries, and clinical systems. Additionally, Gerry serves as a volunteer IT advisor to several parent-led groups.

In 2019, Gerry continued to make significant contributions with the design and launch of the CRID Clinical Research ID. This sophisticated system plays a pivotal role in consistently identifying patients across various research protocols within the realm of rare disease clinical research. Gerry’s professional journey stands as a testament to his unwavering dedication to advancing clinical research through the strategic application of innovative informatics solutions.

Cure GABA-A has invited all of our friends to join an educational session with Gerry Nesbitt January 16th, 2024 1:00pm PDT. 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.

www.youtube.com/@CureGABAa

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

 

Presentation

About Dr. Grinspan

Family Presentation with Dr. Zachary Grinspan

Cure GABA-A | Webinar | PBA Ravicti Clinical Trial explantion with Dr. Grinspan

Join us for an educational session with Dr. Zachary Grinspan.

Dr. Zachary Grinspan is the Chief of Child Neurology and Director of the Pediatric Epilepsy Program at Weill Cornell Medicine and the NewYork-Presbyterian Komansky Children’s Hospital.

Dr. Grinspan’s expertise extends to translational research and clinical informatics.

Join us in exploring Dr. Grinspan’s groundbreaking collaborations, which include over 100 published research articles spanning various disciplines. He is at the forefront of national pediatric epilepsy research, leading multi-centered projects.

In this session, Dr. Zachary Grinspan will explain the details of the Ravicti clinical trial, focusing on the selected GABA-A variant mutations. This choice is informed by a study conducted by Dr. Katty Kang from the Kang Lab at Vanderbilt University, which affirmed the positive impact of Ravicti on individuals with GABRA1 and GABRG2.

Cure GABA-A has invited all of our friends to join an educational session with Sarah Poliquin January 16th, 2024 10:30am PDT. 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.

www.youtube.com/@CureGABAa

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

 

 

Presentation

About Dr. Anna Pfalzer

Family Presentation with Dr. Anna Pfalzer

Cure GABA-A | Webinar | Understanding The Importance of Bio Collection

Join us for an educational session with Dr. Anna Pfalzer

Dr. Pfalzer is a translational neuroscientist whose primary research focuses on unraveling the earliest molecular and behavioral changes in monogenic neurological diseases, with a particular interest in the intersection between neurodevelopment and neurodegeneration.

Her expertise in translational neuroscience led to her recent appointment as the Chief Scientific Officer for COMBINEDBrain, a Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders.

The collaboration with Cure GABA-A and CombinedBrain is to create a GABA-A Bio Library.

Dr. Pfalzer’s will present a webinar explaining the crucial role of biomarkers in GABA-A Variant research.

Biomarkers serve as essential clues in identifying and understanding different GABA-A Variants, aiding in diagnosis, monitoring disease progression, assessing treatment effectiveness, guiding the development of new medicines, unraveling the mechanisms underlying variant functions, predicting outcomes, and expediting research by providing precise insights into brain activities. 

 

Cure GABA-A has invited all of our friends to join an educational session with Sarah Poliquin January 12th, 2024 12:00pm PDT. 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.

www.youtube.com/@CureGABAa

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

 

Recommeded Doctors

Recommended Doctors

Cure GABA-A | Recommended Doctors

In our relentless pursuit of providing the Cure GABA-A community with top-notch care from specialists focusing on GABA-A variants, we’ve curated a list of recommended doctors. This roster is continually expanding, with two additional centers currently in the pipeline.

If you’re aware of additional physicians deserving consideration, please don’t hesitate to reach out to us.

 

Navigating the complexities of GABA-A variants demands specialized care and insight for the well-being of your child and family. Our GABA-A specialists possess a profound understanding of diagnostic criteria and are unwaveringly dedicated to addressing the diverse needs associated with GABA-A variants. They confront the unique challenges presented by GABA-A variants, ensuring comprehensive and tailored support.

 

Choosing a GABA-A specialist is not only beneficial for Natural History Data collection but also connects you with experts actively engaged in Cure GABA-A scientific monthly meetings. This involvement keeps them abreast of the latest scientific advances directly correlated with GABA-A variants. Rest assured that your journey with GABA-A variants aligns with the forefront of scientific knowledge and progress.

 

The following physicians may also act as consultants for families in the clinic, encouraging them to maintain an active relationship their local treating teams. The role of these physicians is to offer guidance, coaching, and potentially recommendations depending on the clinical scenario. 

Presentation

About Dr. Sarah Poliquin

Family Presentation with Dr. Sarah Poliquin

Cure GABA-A | Understanding GABA-A Genes: A Guide to the GABA-A Receptor and Subunits

Join us for an educational session with Sarah Poliquin PhD

Sarah Poliquin is a distinguished researcher in the field of genetic epilepsies. Sarah holds a PhD completed under the guidance of Dr. Katty Kang, with a focus on unraveling the cellular mechanisms behind genetic epilepsies linked to the GABAergic signaling pathway.

During her doctoral studies, Sarah delved into the intricacies of the GABRG2(Q390X) mutation, particularly associated with Dravet syndrome. Her groundbreaking work explored the role of protein degradation pathways such as autophagy and the ubiquitin-proteasome system in understanding the pathophysiology of this disease.

Currently, as a postdoctoral researcher at COMBINEDBrain, Sarah remains an active contributor to the GABAergic disease community.

Cure GABA-A has invited all of our friends to join an educational session with Sarah Poliquin January 22nd, 2024 11am PDT. 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.

 www.youtube.com/@CureGABAa

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

 

Presentation

About Unite Us

Family Presentation with Kim Hindrey

Cure GABA-A | Launch and Learn | Unite Us with Kim Hindrey

Join us to learn about this amazing resource for Rare Disease Caregivers.

Presented by Kim Hindery, Program Manager, who brings a strong background in education and healthcare advocacy. Kim’s journey began with degrees in Early Childhood Education and Early Childhood Special Education, followed by a Masters in Administration. Over 16 years, she has dedicated herself to teaching children with varying needs and actively participating in clinical trials to improve family-centered care and accessibility of healthcare in rural areas. Kim also serves on the FDA’s Patient Engagement Collaborative, advocating for the patient perspective. Her passion for making a positive impact on others. Don’t miss the opportunity to gain insights from Kim’s extensive experience and dedication to improving healthcare and communities.

Kim will share how Unite Us has expanded its reach to serve all individuals in need of essential care and services. Using cutting-edge technology, Unite Us fosters collaboration across different sectors to ensure everyone, regardless of their background or challenges, has access to the care they require.

The episode also highlights Unite Us and how to empower our community members with easy access to healthcare information and choices. This partnership between Cure GABA-A and Unite Us promises to make a real difference in the lives of those affected by GABA-A variants and beyond. 

Cure GABA-A has invited all of our friends to join an educational session with Kim Hindrey on January 16th, 2024 11:30am PDT. 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.

www.youtube.com/@CureGABAa

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

 

Register

About EEGtoGO

Family Presentation with Brad Levy

Cure GABA-A | Educational Session | 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.

Cure GABA-A has invited all of our friends to join an educational session with Brad Levy on February 05th, 2024 11:00am PDT. 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.

www.youtube.com/@CureGABAa

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

 

Research Update | Cure GABA-A Funded Project

Changing our children’s future 

When thinking of researchers who study GABA-A receptor variants associated with epilepsy and neurodevelopmental disorders, one of the first names to come to mind is Dr. Jing-Qiong (Katty) Kang. Cure GABA-A Variants has partnered with Dr. Kang to continue her long standinglongstanding work with 4-phenylbutyrate (PBA). PBA is a drug that can help cells in several different ways.

One way that PBA can help cells is by stabilizing proteins. Proteins are very long strings of amino acids, and they need to be folded just right in order to function properly. If they are not folded right, then the cell throws it in the cellular “trash,” like a hopelessly tangled knot of Christmas lights. PBA can help stop the tangles from happening, which means fewer proteins get thrown away. With fewer proteins disposed of, there are more properly-folded proteins available. To continue the Christmas light analogy, this means you can light the Christmas tree up the way you had planned.

Dr. Kang has found that when GABA-A mutations cause there to be too few GABA-A receptors, PBA can boost the number back up. Her lab has demonstrated this in many cell (“in vitro”) models and in a few mouse (“in vivo”) models, including mice with mutations in Gabra1 and Gabrg2.

A related project that Dr. Kang is working on, through funding from Cure GABA-A Variants, involves more complicated cases. Other neurodevelopmental disorders can involve changes to GABA-A receptors, even though the causative gene is not a GABA-A receptor gene. One example is Rett syndrome, which is caused by mutations in MECP2.

MECP2 is not directly related to GABA-A receptors, yet GABA-A receptors are still altered in Rett syndrome. Dr. Kang is investigating if PBA can restore the number of GABA-A receptors in models of Rett syndrome. She will then look to see if PBA decreases seizures in mice with Rett syndrome. If PBA is helpful in lab models of Rett syndrome, this could mean that work on GABA-A variants could be of interest and benefit to other rare diseases!

Presentation

About Librarey

Family Presentation with Sierra Phillips

Cure GABA-A | Launch and Learn | Librarey with Sierra Phillips

Join us to learn about this amazing resource for Rare Disease Caregivers.

Sierra Phillips is the driving force behind Librarey, a passion project stemming from her journey as a raregiver when her son was diagnosed with Warsaw Breakage Syndrome in 2021. Recognizing the scarcity of resources for families facing rare conditions, Sierra, curated a comprehensive resource guide.

Cure GABA-A has invited all of our friends to join an educational session with Sierra Philips on January 9th, 2024 11am PDT. 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.

www.youtube.com/@CureGABAa

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

 

Book A Consultation

About The Experts

Free One On One Consultation

Cure GABA-A | Book Your Free Consultation with Dr. Rikke Steensbjerre Moller and Dr. Sebastian Ortiz

Cure GABA-A is excited to announce that Dr. Rikke Steensbjerre Moller and Dr. Sebastian Ortiz are available for one on one zoom calls with the Cure GABA-A Community.

Please click on the link to book your consultation to understand your EEG tracings, phenotypes and symptoms.

 

Register

About Dr. Moller

Family Presentation with Dr. Rikke Steensbjerre Moller

Cure GABA-A | Educational Session with Q&A | Understanding the benefits to patients of a Natural History Study

Join us for an educational session with Dr. Rikke Steensbjerre Møller.

Dr. Rikke Steensbjerre Moller leads the dedicated team at the Danish Epilepsy Centre, the primary focus is enhancing the diagnosis process for individuals with severe genetic epilepsy through advanced genetic testing.

Committed to fostering awareness about genetic epilepsies, they recognize the profound impact of natural history in genetic epilepsies.

Dr. Moller and her team strive to deepen their understanding of the correlations between genetic factors and clinical symptoms, all while actively seeking out innovative treatment options.

Cure GABA-A has invited all of our friends to join an educational session with Dr. Rikke Steensbjerre Møller January 29th, 2024 10am PDT. 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.

 

www.youtube.com/@CureGABAa

 

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

 

Presentation

About Dr. Absalom

Family Presentation with Dr. Nathan L. Absalom

Cure GABA-A | Educational Session with Q&A | Introduction into Patient and Natural History and understanding Gain and Loss of Function

Join us for an educational session with Dr. Nathan L. Absalom.

We were so pleased to welcome Dr. Nathan L. Absalom at our inaugural Cure GABA-A Scientific roundtable in conjunction with the American Epilepsy Society this week.

Nathan L. Absalom is an academic researcher from the University of Sydney. As an author he has contributed to research in topics: Receptor & GABAA receptor. Dr. Nathan L. Absalom has an index of 17, co-authored 38 publications receiving 958 citations. Previous affiliations of Nathan L. Absalom include Garvan Institute of Medical Research & University of New South Wales.

Cure GABA-A has invited all of our friends to join an educational session with Dr. Nathan L. Absalom December 14th at 3:00pm PDT. 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.

www.youtube.com/@CureGABAa

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

 

Presentation

About Dr. Mu

Family Presentation with Dr. Mu

Cure GABA-A | Educational Session with Q&A | GABA-A Receptor Variants and Therapeutic Strategies

Join us for an educational session with Dr. Mu.

We were so pleased to welcome him at our inaugural Cure GABA-A Scientific roundtable in conjunction with the American Epilepsy Society this week.

The Mu lab is focused on studying specific components of our nervous system known as neurotransmitter-gated ion channels. These channels, including GABAA and NMDA receptors, act like tiny doors in our brain cells, influencing the balance between excitement and calmness in the central nervous system. If these channels don’t function properly, it can lead to conditions such as epilepsy, autism, and intellectual disability. The Mu lab aims to understand these channels better to find ways to treat or prevent these neurological disorders.

Cure GABA-A has invited all of our friends to join an educational session with Dr. Mu December 7th at 1pm PDT. 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.

www.youtube.com/@CureGABAa

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

 

Register

Family Resource

Family Resource Guide Presentation

Cure GABA-A | Family Resource Guide | Launch and Learn 

Join us for a lunch and learn led by Molly Tingley to discover the family support and resources for GABA-A-related conditions.

 

Molly Tingley will delve into financial aid, transportation options, provide insights into epilepsy and medication resources, as well as opportunities for active participation in the rare disease community.

 

Cure GABA-A has invited all of our friends to join a lunch and learn with Molly Tingley on November 28th at 11am PDT. Please RSVP today.

 

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.

 

www.youtube.com/@CureGABAa

 

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

 

Cure GABA-A in person Scientific Conference 2023

Cure GABA-A | “Inaugural Cure GABA-A Roadmap to a Cure Roundtable”

Open to the scientific community by invitation only.

We are excited for the upcoming “Inaugural Cure GABA-A Roadmap to a Cure roundtable.” This momentous event will assemble a comprehensive team of GABA-A experts, including clinicians, basic and translational researchers, biotech industry teams and pharma.

Gathered in person and held in conjunction with the American Epilepsy Society Annual Meeting we will discuss current knowledge about GABA-A receptor basic science, translational science, and clinical disease manifestation. The goal of this roundtable is to identify where future efforts are most needed. Our hope is that by fostering collaborations, we will accelerate progress towards a cure for all those with GABA-A variants.

Register

This meeting will be recorded and shared. Please register as a member of the Cure GABA-A community to receive updates on all ongoing research and endeavors. 

Share your Story

Cure GABA-A would like to invite you to share your story. The Founder and CEO will be showcasing the faces behind GABA-A Variants in the opening address to the clinicians, basic and translational researchers, biotech industry teams and pharma.

Biobank Collection

COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in the CB Biorepository and available for select biomarker projects as well as other interested researchers. Cure GABA-A Community members are encouraged to participate by registering through the link below.

Location and Date

The event will be held in conjunction with the American Epilepsy Society annual meeting, on Friday, December 1, 2023, from 1pm to 5pm.

9801 International Dr, Orlando, FL 32819, USA

http://hyattregencyorlando.com

Email info@curegabaa.com for more info

Register For Updates

Submit Your Story

Biobank Collection

Varient | Apple

Varient | Android

YouTube | Instruction

Cure GABA-A is now on YouTube!

Cure GABA-A | Varient App | Launch and Learn 

Cure GABA-A is so excited to announce the first launch and learn for Varient app.

Accessible to GABA-A variants and other genetic mutations. Varient is an app that allows patients with the same disorder and even same mutation to share medication experiences.

Here is why this is important. The more data collection there is on GABA-A Variants the fastest GABA-A Variants get on researcher and pharma radar.

Join us as we sit down with Katheron Intson, PhD, from the University of Toronto and the CEO of Varient for a lunch and learn.

Have you ever wondered what medication works across your rare condition?

What if your child has the same variant as another patient?

Wouldn’t it be efficient to share this data?

The technology and app exist!

Please meet rare epilepsy researcher Katheron Intson, PhD, from the University of Toronto and the CEO of Varient. Varient is an app that utilizes crowdsourcing to identify the most effective off-label meds, particularly for seizures, for each rare community.

In practical terms, parents can join the app, input their child’s gene/point mutation and compare what drugs have worked for others. The app will launch all 19 GABA-A mutations by the end of 2023

Varient Website: www.varientapp.com

Click on the link or email monica@curegabaa.com for more info

Biobank Collection 2023 Roadshow

Event Highlights

CominedBrain has partnered with Cure GABA-A to collect samples in Los Angeles, California

Join us on November 4th and 5th in Los Angeles, California 

COMBINEDBrain is on a mission to collect at least 20 samples from every GABA-A Variant.

COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in the CB Biorepository and available for select biomarker projects as well as other interested researchers. COMBINEDBrain will also collect several online surveys to be completed by caregivers.

Click on the link or email monica@curegabaa.com for more info

Medicine Improved Brain Signals and Reduced Seizures in Mice with Dravet Syndrome

 

Let’s break it down:

PBA: This is a substance or drug that was used in the study.

Mutant γ2(Q390X) subunit protein aggregates: There is a protein in the body that is not working properly because of a genetic change. This protein tends to clump together and form groups, and this is causing problems.

Wildtype GABAA receptor subunits: These are normal proteins in the body that are supposed to work correctly.

Trafficking: Think of this as the process of transporting these proteins to where they are needed in the body.

Membrane expression: This means putting these proteins in the right place on the outer surface of certain cells.

GABA evoked current: GABA is a chemical signal in the brain. The study looked at how well the cells responded to this signal.

HEK293T cells and neurons: These are types of cells that were used in the study.

ER stress: There is a part of the cell called the endoplasmic reticulum, and when it’s stressed, it can cause problems. PBA helped reduce this stress.

Mitigating seizures and EEG abnormalities: The study found that PBA helped reduce the number and severity of seizures and problems seen in brain activity measurements (EEG) in mice with this genetic problem.

The study found that using PBA helped fix some problems caused by a faulty protein. It made the faulty protein work better, helped put the normal proteins where they should be, improved how cells respond to brain signals, reduced stress inside cells, and made mice with this problem have fewer seizures and brain issues.

Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human

Let’s break it down:

Bilateral Optical Nerve Atrophy: Both of the patient’s optic nerves, which are important for vision, have some damage or problems.

Mice Displayed Spontaneous Seizures: In experiments with mice, they had unexpected and uncontrolled shaking episodes, similar to what happens during epileptic seizures.

Reduced Electroretinography Oscillatory Potential: When testing the mice’s vision, there were signs that their retinas (the part of the eye that senses light) were not working as well as they should.

Reduced GABAA Receptor α1, β2, and γ2 Subunit Expression: Certain proteins in different parts of the brain were not at their normal levels. These proteins are related to brain activity and can affect seizures.

Optic Nerve Degeneration: The mice’s optic nerves, the wires that connect the eye to the brain, were getting damaged. This damage was noticed through special microscopic pictures.

Increased G-Ratio: This is a measure of how healthy the optic nerve is. A higher G-ratio suggests that the nerves are not working well because they’re not covered properly.

Phenobarbital as an Anticonvulsant: A medicine called phenobarbital was found to be the most effective at stopping the seizures in both the mice and the patient. This was tried after other seizure medicines didn’t work.

The patient had problems with their eyes and seizures. Experiments with mice showed that they had similar eye and seizure problems. The mice’s optic nerves and certain brain proteins were not working well. Phenobarbital, a medicine, helped control the seizures in both the mice and the patient after other medicines didn’t work.