Research
Who Supports our Village?
Researchers & Current Projects
Dr. Jing-Qiong (Katty) Kang
Kang Laboratory - Vanderbilt University, Nashville TN
The Kang Laboratory is interested in understanding the role of GABAergic signaling in disease conditions as well as in normal brain development.
Currently, lab staff members are investigating the molecular pathophysiology of genetic variations in GABAA receptor subunits and two common pediatric syndromes: epilepsy and autism. They are trying to understand why a single nucleotide change in a particular GABAA receptor subunit gene could give rise to severe epilepsy, impaired social and learning abilities as well as other comorbidities which could define the whole life of a child. They use in vitro approaches to understand the details of how a mutant GABAA receptor subunit gene and protein behaves and the adaptive responses of the host cell. They use in vivo approaches, such as genetically modified mouse models, to understand the changes at more physiological and systematic levels.
Their final goal is to identify mechanism-based therapies for those who suffer from these disorders in order to improve patients’ treatments and life outcomes.
Dr. Tingwei Mu
Mu Lab - Case Western Reserve University School of Medicine, Cleveland OH
The Mu laboratory aims to understand protein homeostasis (proteostasis) of membrane proteins. They are major drug targets; loss of their proteostasis leads to numerous diseases, including neurological, neurodegenerative, and cardiovascular diseases.
Currently, the Mu lab focuses on neurotransmitter-gated ion channels, including gamma-aminobutyric acid type A (GABAA) receptors and N-methyl D-aspartate (NMDA) receptors.
The Mu lab explores how molecular chaperones, folding enzymes, ERAD factors, and trafficking factors, coordinate to facilitate membrane protein folding, assembly, degradation and trafficking.
The Mu lab also uses small molecule proteostasis regulators to correct pathogenic membrane proteins with protein conformational deficiency, as a therapeutic strategy to treat corresponding diseases.
Dr. Rikke Steensbjerre Møller
Department of Epilepsy Genetics and Personalized Medicine at the Danish Epilepsy Centre, Filadelfia
Our team at the Danish Epilepsy Centre are aiming to help improving diagnosis for individuals with severe genetic epilepsy through genetic testing, and to help raising awareness of genetic epilepsies. Making a genetic diagnosis has many implications for management and counseling, and help us to accurately document the natural history of genetic epilepsies. First step towards precision medicine is precision diagnosis!
The overall aim of our research is to unravel the underlying mechanisms of genetic epilepsies, to understand correlations with clinical symptoms and to find new treatment options.
Our main research areas of interest are:
1) gene discovery in neurodevelopmental disorders and epilepsy;
2) electro-clinical characterization of genetic epilepsies;
3) functional characterization of genetic variants to understand their pathomechanisms;
4) explore genotype-phenotype-pharmacoresponse correlations;
5) improve existing or develop new personalized therapies for individuals with genetic epilepsies
CombinedBrain
Partnership
The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders is devoted to speeding the path to clinical treatments for people with severe rare genetic non-verbal neurodevelopmental disorders by pooling efforts, studies and data.
Coriell Institute - NIGMS Cell Repository
Project - fibroblast cell line (sent March 2022)
The NIGMS Human Genetic Cell Repository (NIGMS Repository) is sponsored by the National Institute of General Medical Sciences (NIGMS) and supplies scientists with materials for accelerating cell and biomedical research. The resources available include highly characterized, contaminant-free cell cultures and high quality, well-characterized DNA samples derived from these cultures.
Rarebase
Future Collaborator
Rarebase is a public benefit precision medicine company that leverages cutting-edge technology and biology to discover and develop treatments for the millions of people worldwide living with a rare disease.
Ciitzen/Invitae | Rare Patient Network
Natural History Study Collection
We’re excited to announce our partnership with Invitae’s Ciitizen Rare Patient Network to build a strong natural history study from patients’ medical records. Signing up is free. You get access to all your medical records in one place, and information from your records will help gain a better understanding of {insert rare disease name} better and get us closer to treatment. US Patients only.
Interested in partnering with Scarlett's GABRA1 Village?
We believe in the power of collaboration which is what our community is built upon. Whether you're a researcher, small business owner or a large corporation--your support for our cause matters.
It takes a Village!