Researcher Seeks to Unravel the Brain’s Genetic Tapestry to Tackle Rare Disorder – University of Virginia
By NEVAGiles23
In 2013, University of Virginia researcher Michael McConnell published research that would forever change how scientists study brain cells.
McConnell and a team of nationwide collaborators discovered a genetic mosaic in the brains neurons, proving that brain cells are not exact replicas of each other, and that each individual neuron contains a slightly different genetic makeup.
McConnell, an assistant professor in the School of Medicines Department of Biochemistry and Molecular Genetics, has been using this new information to investigate how variations in individual neurons impact neuropsychiatric disorders like schizophrenia and epilepsy. With a recent $50,000 grant from the Bow Foundation, McConnell will expand his research to explore the cause of a rare genetic disorder known as GNAO1 so named for the faulty protein-coding gene that is its likely source.
GNAO1 causes seizures, movement disorders and developmental delays. Currently, only 50 people worldwide are known to have the disease. The Bow Foundation seeks to increase awareness so that other probable victims of the disorder can be properly diagnosed and to raise funds for further research and treatment.
UVA Today recently sat down with McConnell to find out more about how GNAO1 fits into his broader research and what his continued work means for all neuropsychiatric disorders.
Q. Can you explain the general goals of your lab?
A. My lab has two general directions. One is brain somatic mosaicism, which is a finding that different neurons in the brain have different genomes from one another. We usually think every cell in a single persons body has the same blueprint for how they develop and what they become. It turns out that blueprint changes a little bit in the neurons from neuron to neuron. So you have slightly different versions of the same blueprint and we want to know what that means.
The second area of our work focuses on a new technology called induced pluripotent stem cells, or iPSCs. The technology permits us to make stem cell from skin cells. We can do this with patients, and use the stem cells to make specific cell types with same genetic mutations that are in the patients. That lets us create and study the persons brain cells in a dish. So now, if that person has a neurological disease, we can in a dish study that persons disease and identify drugs that alter the disease. Its a very personalized medicine approach to that disease.
Q. Does cell-level genomic variety exist in other areas of the body outside the central nervous system?
A. Every cell in your body has mutations of one kind or another, but brain cells are there for your whole life, so the differences have a bigger impact there. A skin cell is gone in a month. An intestinal cell is gone in a week. Any changes in those cells will rarely have an opportunity to cause a problem unless they cause a tumor.
Q. How does your research intersect with the goals of the Bow Foundation?
A. Let me back up to a little bit of history on that. When I got to UVA four years ago, I started talking quite a lot with Howard Goodkin and Mark Beenhakker. Mark is an assistant professor in pharmacology. Howard is a pediatric neurologist and works with children with epilepsy. I had this interest in epilepsy and UVA has a historic and current strength in epilepsy research.
We started talking about how to use iPSCs the technology that we use to study mosaicism to help Howards patients. As we talked about it and I learned more about epilepsy, we quickly realized that there are a substantial number of patients with epilepsy or seizure disorders where we cant do a genetic test to figure out what drug to use on those patients.
Clinical guidance, like Howards expertise, allows him to make a pretty good diagnosis and know what drugs to try first and second and third. But around 30 percent of children that come in with epilepsy never find the drug that works, and theyre in for a lifetime of trial-and-error. We realized that we could use iPSC-derived neurons to test drugs in the dish instead of going through all of the trial-and-error with patients. Thats the bigger project that weve been moving toward.
The Bow Foundation was formed by patient advocates after this rare genetic mutation in GNAO1 was identified. GNAO1 is a subunit of a G protein-coupled receptor; some mutations in this receptor can lead to epilepsy while others lead to movement disorders.
Were still trying to learn about these patients, and the biggest thing the Bow Foundation is doing is trying to address that by creating a patient registry. At the same time, the foundation has provided funds for us to start making and testing iPSCs and launch this approach to personalized medicine for epilepsy.
In the GNAO1 patients, we expect to be able to study their neurons in a dish and understand why they behave differently, why the electrical activity in their brain is different or why they develop differently.
Q. What other more widespread disorders, in addition to schizophrenia and epilepsy, are likely to benefit from your research?
A. Im part of a broader project called the Brain Somatic Mosaicism Network that is conducting research on diseases that span the neuropsychiatric field. Our lab covers schizophrenia, but other nodes within that network are researching autism, bipolar disorder, Tourette syndrome and other psychiatric diseases where the genetic cause is difficult to identify. Thats the underlying theme.
- Printing Skin Cells on Burn Wounds - Wake Forest School of ... - April 2nd, 2018
- Adult Stem Cells and Gene Therapy Save a Young Boy With ... - March 13th, 2018
- Hairy skin from mouse stem cells may hold a cure for ... - February 4th, 2018
- Fully Functional Skin Grown From Stem Cells Could Double ... - December 13th, 2017
- Regeneration of the entire human skin using transgenic ... - December 13th, 2017
- Glossary of Terms | Aplastic Anemia and MDS International ... - November 22nd, 2017
- A boy with a rare disease gets new skin, thanks to gene ... - November 14th, 2017
- 'Extraordinary' tale: Stem cells heal a young boy's lethal ... - November 14th, 2017
- Genetically modified skin grown from stem cells saved a 7 ... - November 14th, 2017
- Doctors replace boys skin using breakthrough gene therapy ... - November 14th, 2017
- Scientists replace skin using genetically modified stem cells - November 14th, 2017
- Skin Stem Cells - Methods and Protocols | Kursad Turksen ... - October 15th, 2017
- Buy Serum Stem Cells Skin Care Products | CHOLLEY - September 24th, 2017
- Stem Cell Basics I. | stemcells.nih.gov - September 20th, 2017
- Decatur elementary student gets stem cells from mother - The Decatur Daily - September 8th, 2017
- 'Nanotransfection' Turns Animal Skin into Blood Vessels and Brain Cells - Medical Device and Diagnostics Industry - September 8th, 2017
- How to choose the right night cream for your skin - VOGUE India - September 8th, 2017
- Researchers Turn Skin Cells into Motor Neurons Without Using ... - Futurism - September 8th, 2017
- Latest Research Unveiled Novel Pathway For T3 In Hair Follicle Regeneration - Natural Products INSIDER - September 7th, 2017
- This New, Cutting-Edge Treatment Could Be the End of Baldness - Reader's Digest - September 7th, 2017
- China-based Grand Fan Group acquires leading French skincare brand - Markets Insider - September 7th, 2017
- What is microneedling and why is the skin treatment so popular? - Miami Herald - September 5th, 2017
- Gene study sheds light on middle-age sight loss - Medical Xpress - September 4th, 2017
- iPS Cell-based Neuron Therapy Benefits Monkeys With Parkinson's - ReliaWire - September 3rd, 2017
- Study shows human stem cells restore mobility in Parkinson's monkeys - Borneo Bulletin Online - September 1st, 2017
- Human Stem Cells Fight Parkinson's Disease in Monkeys - Scientific American - September 1st, 2017
- Here's What You Need to Know about Microneedling - Miami Herald - September 1st, 2017
- Human blood and skin cells used to treat Parkinson's in monkeys - New Scientist - August 31st, 2017
- Natural Skin Care Authority MyChelle Launches at Nationwide Department Store - PR Newswire (press release) - August 30th, 2017
- Your skincare problems solved - DestinyConnect - August 30th, 2017
- FDA steps up scrutiny of stem cell therapies - Reuters - August 28th, 2017
- Researchers Use Brain Cells to Control Aging in Mice - VOA Learning English - August 28th, 2017
- Introducing ProCell Therapies Dermabrasion, Microchanneling, and Stem Cell Therapy - Gwinnett Citizen - August 27th, 2017
- Researchers think they've found a simple cure for baldness - The indy100 - August 27th, 2017
- Are stem cells really the fountain of youth? - Star2.com - August 26th, 2017
- Three Medical Spa Procedures to Reverse Your Summer Skin Damage - LaSalle News Tribune - August 24th, 2017
- French CICABEL Mask Launched, Changing Traditional Mask Products - Markets Insider - August 24th, 2017
- This Chip Uses Electricity to Reprogram Cells for Healing - Singularity Hub - August 22nd, 2017
- Gene editing used to repair diseased genes in embryos - NHS Choices - August 22nd, 2017
- No moral reason not to create chimeras capable of making human eggs, ethicist argues - National Post - August 22nd, 2017
- Scientists Discover New Hair Growth Technique Using Stem Cells ... - TrendinTech - August 19th, 2017
- Stem cell technique could reverse a major type of infertility - New Scientist - August 17th, 2017
- New Cell Study Pulls Curtain on Schizophrenia, Autism - Courthouse News Service - August 16th, 2017
- We Just Figured out How to Activate Stem Cells to Treat Baldness - Futurism - August 15th, 2017
- Genome architecture guides stem cell fate, Stanford researchers find - Scope (blog) - August 15th, 2017
- A Low-Calorie Diet Slows Aging - Anti Aging News - August 15th, 2017
- UCLA Scientists Identify a New Way to Activate Stem Cells to Make Hair Grow - Newswise (press release) - August 14th, 2017
- Nanochip Could Heal Injuries or Regrow Organs with One Touch - NewsFactor Network - August 13th, 2017
- Scientists Develop Nanochip That Turns Skin Into Brain Cells - The Merkle - August 11th, 2017
- Calorie-Controlled Diet Restores Youthful Rhythmic Control of Metabolism in Old Mice - Genetic Engineering & Biotechnology News (blog) - August 11th, 2017
- Heal thyself: Skin-zapping chip aims to reprogram cells for tissue repair - Ars Technica - August 11th, 2017
- Skin transplants could treat diabetes and obesity - Futurity - Futurity: Research News - August 11th, 2017
- Chip reprograms skin cells with a short electric pulse - New Atlas - New Atlas - August 10th, 2017
- Gene therapy via skin could treat diseases such as obesity - UChicago News - August 10th, 2017
- Wild new microchip tech could grow brain cells on your skin - CNET - August 9th, 2017
- A Chip That Reprograms Cells Helps Healing, At Least In Mice - NPR - August 9th, 2017
- Stem cells: science prepares to take the first sip from the real fountain of youth - Catholic Online - August 9th, 2017
- Dramatic Burn-Healing Through Stem Cell Treatment - Fox Weekly - August 9th, 2017
- Amniotic sac in a dish: Stem cells form structures that may aid of ... - Phys.Org - August 9th, 2017
- Nanochip could heal injuries or regrow organs with one touch, say researchers - The Guardian - August 8th, 2017
- CRISPR Skin Grafts Could Replace Insulin Shots For Diabetes - Futurism - August 8th, 2017
- Gene therapy skin grafts for obesity and diabetes - BioNews - August 7th, 2017
- Turning Skin Cells Into Brain Cells - 06/28/2012 - August 7th, 2017
- First implants of stem-cell pouches to 'cure' type 1 diabetes - New Scientist - August 7th, 2017
- Nano-chip promises to heal organs at a touch - Cosmos - August 7th, 2017
- Penny-sized nanochip pad to regrow organs and heal injuries - Telegraph.co.uk - August 7th, 2017
- Breakthrough Stem Cell Study Offers New Clues to Reversing Aging - Singularity Hub - August 6th, 2017
- Scientists Use Artificial Skin Implants to Treat Type 2 Diabetes The ... - The Merkle - August 6th, 2017
- CRISPR Gene Therapy via Skin Grafts Treats Obesity and Diabetes in Mice - Genetic Engineering & Biotechnology News - August 6th, 2017
- Early gene-editing holds promise for preventing inherited diseases - The Jerusalem Post - August 6th, 2017
- Growing skin in a lab has benefits for humans and turtles alike - Popular Science - August 5th, 2017
- Will putting leeches on his face help this blind man see? - USA TODAY - August 5th, 2017
- Engineered Skin Cells Control Type 2 Diabetes in Mice: Study - Arizona Daily Star - August 4th, 2017
- ThinkGeek, Adore Cosmetics and Ohh La La coming to Cielo Vista Mall - KVIA El Paso - August 4th, 2017
- Sam Shepard Died of ALS. Here's Why It's so Difficult to Treat. - Fortune - August 2nd, 2017
- Scientists edit disease-causing gene mutation in human embryos - WENY-TV - August 2nd, 2017
- Noise helps cells make decisions: Team reveals the importance of genetic noise in development - Phys.Org - August 1st, 2017
- Stem Cells Offer New Solutions for Lung Disease - Miami's Community Newspapers - August 1st, 2017
- Celebrity Skincare Guru Nurse Jamie on Why At-Home Beauty Tools Are the Future - W Magazine - July 31st, 2017
- Glial cells botch wiring in childhood schizophrenia - Futurity: Research News - July 31st, 2017
