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Mutations Occurring Only in Brain Responsible for Intractable Epilepsy Identified
KAIST researchers have discovered that brain somatic mutations in MTOR gene induce intractable epilepsy and suggest a precision medicine to treat epileptic seizures.
Epilepsy is a brain disorder which afflicts more than 50 million people worldwide. Many epilepsy patients can control their symptoms through medication, but about 30% suffer from intractable epilepsy and are unable to manage the disease with drugs. Intractable epilepsy causes multiple seizures, permanent mental, physical, and developmental disabilities, and even death. Therefore, surgical removal of the affected area from the brain has been practiced as a treatment for patients with medically refractory seizures, but this too fails to provide a complete solution because only 60% of the patients who undergo surgery are rendered free of seizures.
A Korean research team led by Professor Jeong Ho Lee of the Graduate School of Medical Science and Engineering at the Korea Advanced Institute of Science and Technology (KAIST) and Professor Dong-Seok Kim of Epilepsy Research Center at Yonsei University College of Medicine has recently identified brain somatic mutations in the gene of mechanistic target of rapamycin (MTOR) as the cause of focal cortical dysplasia type II (FCDII), one of the most important and common inducers to intractable epilepsy, particularly in children. They propose a targeted therapy to lessen epileptic seizures by suppressing the activation of mTOR kinase, a signaling protein in the brain. Their research results were published online in Nature Medicine on March 23, 2015.
FCDII contributes to the abnormal developments of the cerebral cortex, ranging from cortical disruption to severe forms of cortical dyslamination, balloon cells, and dysplastic neurons. The research team studied 77 FCDII patients with intractable epilepsy who had received a surgery to remove the affected regions from the brain. The researchers used various deep sequencing technologies to conduct comparative DNA analysis of the samples obtained from the patients’ brain and blood, or saliva. They reported that about 16% of the studied patients had somatic mutations in their brain. Such mutations, however, did not take place in their blood or saliva DNA.
Professor Jeong Ho Lee of KAIST said, “This is an important finding. Unlike our previous belief that genetic mutations causing intractable epilepsy exist anywhere in the human body including blood, specific gene mutations incurred only in the brain can lead to intractable epilepsy. From our animal models, we could see how a small fraction of mutations carrying neurons in the brain could affect its entire function.”
The research team recapitulated the pathogenesis of intractable epilepsy by inducing the focal cortical expression of mutated mTOR in the mouse brain via electroporation method and observed as the mouse develop epileptic symptoms. They then treated these mice with the drug called “rapamycin” to inhibit the activity of mTOR protein and observed that it suppressed the development of epileptic seizures with cytomegalic neurons.
“Our study offers the first evidence that brain-somatic activating mutations in MTOR cause FCDII and identifies mTOR as a treatment target for intractable epilepsy,” said co-author Dr. Dong-Seok Kim, a neurosurgeon at Yonsei Medical Center with the country’s largest surgical experiences in treating patients with this condition.
The research paper is titled “Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.” (Digital Object Identifier #: 10.1038/nm.3824)
Picture 1: A schematic image to show how to detect brain specific mutation using next-generation sequencing technology with blood-brain paired sample. Simple comparison of non-overlapping mutations between affected and unaffected tissues is able to detect brain specific mutations.
Picture 2: A schematic image to show how to generate focal cortical dysplasia mouse model. This mouse model open the new window of drug screening for seizure patients.
Picture 3: Targeted medicine can rescue the focal cortical dysplasia symptoms including cytomegalic neuron & intractable epilepsy.
2015.03.25 View 13201 -
KAIST Clinic's Dr. Joo-yeon Kim Receives Minister's Award
Dr. Joo-yeon Kim receives citation on “The Fifth Tuberculosis Prevention Day” for her contribution to campus tuberculosis outbreak prevention.
Dr. Joo-Yeon Kim, the general manager of medical services of KAIST Clinic, received an award from the Korean Ministry of Health and Welfare on March 24, 2015. The award ceremony took place during “The Fifth Tuberculosis Prevention Day,” hosted by the Ministry of Health and Welfare and supervised by the Korea Centers for Disease Control and Prevention. The event was held at Seoul Sejong Cultural Center with 300 distinguished guests in attendance including the Minister of Health and Welfare, the Committee Members of the National Assembly Health and Welfare Committee, and the Director of Korea Centers for Disease Control Prevention.
The award acknowledges Dr. Kim’s contribution to curbing a tuberculosis (TB) outbreak on KAIST’s campus in 2013. In cooperation with the Infectious Disease Prevention Committee in KAIST, Korea Centers for Disease Control and Prevention, and Yuseong Public Health Centre, Dr. Kim’s swift treatment and rigorous control of both TB and latent TB patients prevented further outbreaks.
The KAIST Clinic is the first university-affiliated clinic established in September 2010 after Neil Pappalardo, the President of MEDITEC in the US, donated $2.5 million to KAIST. It is currently running 10 medical departments including those in family medicine, stress clinic, and dentistry to provide medical care to students and staff.
Every March 24 marks the annual “Tuberculosis Prevention Day” and “World Tuberculosis Day.” The “World Tuberculosis Day” was established in 1982 to promote TB prevention and early detection. It commemorated the 100th year anniversary of the discovery of M. tuberculosis on March 24, 1883 by the German bacteriologist Robert Koch.
According to the TB Prevention Act (Article 4), Korea marks “The Tuberculosis Prevention Day” alongside the “World Tuberculosis Day” on March 24 to raise public awareness of the magnitude of the disease and the importance of prevention.
2015.03.25 View 7936 -
KAIST Develops a Credit-Card-Thick Flexible Lithium Ion Battery
Since the battery can be charged wirelessly, useful applications are expected including medical patches and smart cards.
Professor Jang Wook Choi at KAIST’s Graduate School of Energy, Environment, Water, and Sustainability (EEWS) and Dr. Jae Yong Song at the Korea Research Institute of Standards and Science jointly led research to invent a flexible lithium ion battery that is thinner than a credit card and can be charged wirelessly.
Their research findings were published online in Nano Letters on March 6, 2015. Lithium ion batteries are widely used today in various electronics including mobile devices and electronic cars. Researchers said that their work could help accelerate the development of flexible and wearable electronics.
Conventional lithium ion batteries are manufactured based on a layering technology, stacking up anodes, separating films, and cathodes like a sandwich, which makes it difficult to reduce their thickness. In addition, friction arises between layers, making the batteries impossible to bend. The coating films of electrodes easily come off, which contributes to the batteries’ poor performance.
The research team abandoned the existing production technology. Instead, they removed the separating films, layered the cathodes and anodes collinearly on a plane, and created a partition between electrodes to eliminate potential problems, such as short circuits and voltage dips, commonly present in lithium ion batteries.
After more than five thousand consecutive flexing experiments, the research team confirmed the possibility of a more flexible electrode structure while maintaining the battery performance comparable to the level of current lithium ion batteries.
Flexible batteries can be applied to integrated smart cards, cosmetic and medical patches, and skin adhesive sensors that can control a computer with voice commands or gesture as seen in the movie “Iron Man.”
Moreover, the team has successfully developed wireless-charging technology using electromagnetic induction and solar batteries.
They are currently developing a mass production process to combine this planar battery technology and printing, to ultimately create a new paradigm to print semiconductors and batteries using 3D printers.
Professor Choi said, “This new technology will contribute to diversifying patch functions as it is applicable to power various adhesive medical patches.”
Picture 1: Medical patch (left) and flexible secondary battery (right)
Picture 2: Diagram of flexible battery
Picture 3: Smart card embedding flexible battery
2015.03.24 View 10613 -
Professor Jae-Kyu Lee's Memoir "Knowledge and Beyond"
Professor Jae-Kyu Lee of KAIST’s College of Business has recently published a book called Knowledge and Beyond (available only in Korean). It deals with selected aspects of science and the world around us.
In Knowledge and Beyond, he expounds on his understanding of science, business, life, and religion. In part autobiographical, he describes his thirty-year career and his interaction with his past students who are now leading scientists and scholars in Korea, and offers some advice on how to better treasure life. Professor Lee also recounts his own life: his childhood, growing up and maturing with his mates, love at first sight of and his unconditional love towards his wife.
With respect to science, he talks about the origin of knowledge and ways to find solutions to questions that seem almost impossible to answer and offers a few aphorisms, such as: “studying is more like a marathon, not a boxing match;” “do not predict, but plan your future” and “learn by head in class, learn by heart in life.”
Knowledge and Beyond is a must read for those who have become exhausted by today’s competitive world, reminding readers of their life goals and paths.
Professor Lee said, “I wrote this book for the young to share the true meaning of life over plain knowledge. You can never find out the true meaning of life unless you combine simple and spiritual knowledge, and I hope this book helps in showing a way to achieve it.”
Professor Lee has taught at KAIST since 1985, and is currently the Dean of KAIST's Business College. He was formerly the Dean of KAIST College of Management, Director of KAIST EEWS (energy, environment, water, and sustainability) and the Vice Provost of the Singapore Management University’s School of Information Systems. He was also the President of The Korea Society of Management Information Systems and the President of Korea Intelligent Information System Society.
2015.03.24 View 6239 -
KVIP Opened in Pangyo
KAIST has opened the KAIST Venture Innovation Program (KVIP) in its Center for Industry Outreach, designed for executive and high-ranking officers of venture companies. Located in Pangyo Techno Valley, KAIST’s Center for Industry Outreach was established in collaboration with the government of Gyeonggi Province to support venture companies in Pangyo for business management training, venture networking, and university-industry cooperation.
The program will be held every Monday for 12 weeks from April 13 to July 6 in KAIST’s Center for Industry Outreach. This executive education program mainly focuses on solving problems that arise when a medium-sized venture company is in the course of growing into a global corporation. The program is divided into four courses which will cover business management, competition in the global market, transformation of a company, and technological innovation.
Professors from various departments at KAIST will give lectures on their fields. Professor Jaeseung Jeong from the Bio and Brain Engineering Department, Professor Hoi-Jun Yoo from the Electrical Engineering Department, Professor Sangmin Bae from the Industrial Design Department, and Professor Kwangjae Sung from the Business and Technology Management Department will each deliver lectures on brain engineering, semiconductor, design, and restructuring.
Industry experts are also invited to give talks, including Dr. Dae-Gyu Byun, the Chief Executive Officer and President of HUMAX Electronics, Dr. Gwang-Cheol Choi, the Chief Executive Officer of SK Engineering & Construction, Mr. Il-young Kim, the former Chief Executive Officer of KT, Dr. Jae-hoon Jeong, the President of the Korea Institute for the Advancement of Technology (KIAT), Dr. Intak Bae, the Chief Executive Officer of Summit Partners, and Mr. Kyung-taek Kwak, a film director.
The department has started recruiting first round applicants for the program, targeting executive and high-ranking officers of middle-sized venture companies. The details of the program can be found on its website, kvip.kaist.ac.kr.
2015.03.23 View 9376 -
KAIST Alumni Awards Academic Scholarships
The KAIST Alumni Academic Scholarship Foundation awarded scholarships to 25 KAIST students. The award ceremony took place on March 15, 2015, in Seoul.
The Foundation selected 21 Korean students and four foreign students based on their leadership skills and academic achievements. Each Korean student received USD 3,600, and each international student USD 900. The scholarships will be provided to the students for up to three years.
The Foundation allows alumni whose donations surpass a certain threshold amount to name their scholarships. This year, a total of eleven donors used this service.
The Foundation provided scholarships to 25 students in 2004 as well.
2015.03.20 View 6472 -
KAIST Exhibits Socially Benign Technologies
Exhibited 29 products that address the need to solve social issues such as a Braille printer
Students from the KAIST Idea Factory, a startup program for undergraduates operated by the Research Institute for Social Technology and Innovation (RISTI), hosted an exhibition presenting their research prototypes. The Idea Factory provides students with opportunities to try out new ideas and develop innovative technologies.
The exhibition was held at the Creative Learning building on campus on March 20, 2015. Students displayed 29 inventions, showcasing technologies to address important social issues. The exhibit included products and technologies developed by the students or already commercialized by small businesses such as a Braille printer, a hydrogen peroxide-oxygen respirator for vessel accidents, and an educational 3D printer. The small business exhibits included a removable additional power unit for wheelchairs, agricultural product anti-theft system, and security lighting.
KAIST also hosted a social technology innovation symposium in KAIST Institute Building on the same day. The theme of the symposium was the “Integration of Technological Innovation and Social Innovation – Social Technology Innovation.”
The key note speaker, Director Heung-Kyu Lee of RISTI, KAIST, presented a lecture on the topic, “The Meaning of Social Technology Innovation: System Change.” His talk was followed by Hyuk-Jin Choi of the Korea Social Enterprise Promotion Agency on “Social Economic Organizations of Korea and Social Technology,” and Jae-Sun Kim of The Grassroots on “Search for Social Innovation and Social Economy.”
The supervisor of the event, Director Lee said, “This exhibit focuses on technologies that could help the underprivileged. We will continue to support students’ ideas and small businesses’ endeavors to develop these technologies.”
KAIST established the Idea Factory in 2014 to assist KAIST students to commercialize creative and innovative ideas. The Idea Factory made a key contribution in commercializing the educational 3D printers last year.
Picture: A Braille Printer
2015.03.20 View 6725 -
KAIST and Hancom Sign for Development of Mobile Healthcare
KAIST signed a memorandum of understanding with Hancom, Inc., an office suite developer in Korea, to foster mobile healthcare software programs. President Steve Kang and Chairman Sang-Chul Kim of Hancom held a signing ceremony on March 13, 2015 at the KAIST campus.
Based on the agreement, KAIST and Hancom will exchange research personnel to build Dr. M, a smart healthcare platform developed by the university, collaborate in research and development, and cooperate in the transfer of research developments from the university to the software industry including Hancom.
KAIST and Hancom also signed a memorandum of understanding on the development of software in April 2014. The Hancom-KAIST Research Center opened on campus last October.
2015.03.20 View 8419 -
Qualcomm Innovation Award Recognizes 20 KAIST Students
The
award provides research fellowships, worth of USD 100,000, to 20 KAIST graduate
students
With an audience of 100 people present,
KAIST held a ceremony for the Qualcomm Innovation Award 2015 at the Information
Technology Convergence building on campus on March 12, 2015.
The Qualcomm Innovation Award, established
in 2010, is a fellowship that supports innovative science and engineering master’s
and doctoral students at KAIST. Qualcomm donated USD 100,000 to KAIST, stipulating that it be used to foster a creative research environment for graduate
students.
To select the recipients, KAIST formed an award committee chaired
by Professor Soo-Young Lee of the Department of Electrical Engineering and accepted research proposals until late January.
The award committee first selected 37
proposals from 75 papers submitted and then chose the final 20 research
proposals on March 12, 2015 after presentation evaluations. The presentations had to show promise of innovation and creativity; prospective influence on wireless communications
and mobile industry; and the prospect of being implemented.
Each recipient received a USD 4,500 research
fellowship along with an opportunity to present their research findings at a
workshop where Qualcomm engineers and other distinguished individuals of the industry
will attend.
Previously, Qualcomm has donated
research fellowships to KAIST graduate students in 2011 and 2013.
2015.03.19 View 9028 -
'Dr. M,' Mobile Healthcare Showroom Opened at KI
Portable and wearable computers have made the way we manage our health easier and potentially more effective. Researchers from six departments and one graduate school at KAIST collaborated and conducted a one-year project called the “Mobile Healthcare Innovation” to develop a mobile healthcare system. Their research results are on exhibit on campus at the “Dr. M Showroom” which was open on March 13, 2015.
Located on the second floor of the College of Information and Electrical Engineering building, the showroom displays the entirety of mobile healthcare system developed during 2014, from the collection of biological data through smart sensors to analyzing big data to provide customized healthcare models for patients.
Standing in for a mobile doctor, Dr. M is a networked medical service system provided through the Internet of Things (IoC), wearable electronics, smart home, and smart car. Under this care, people can monitor their health on a daily basis at any-time and place, helping them to lower the risk of serious health problems. Patients who have chronic diseases such as diabetes or cardiovascular illness can inform doctors of their health status in real time. Moreover, people living in remote regions can receive quality medical services without traveling long distances.
At the showroom, about 40 convergence technologies are displayed, including biological sensors, low-power communication devices, IoC technology, big data, disease analysis, and prediction technology, presenting how these technologies are connected and worked systematically. For example, all the data earned from biological sensors are analyzed to produce relevant user information. Once abnormalities are discovered, the results would be sent immediately to medical staff for treatment.
As part of Dr. M, KAIST has been implementing the establishment of a “Mobile Healthcare Campus,” distributing small, wearable wristbands to 100 students. The wristbands read students’ biological signals and send them to researchers for monitoring. In addition, KAIST plans to collaborate with local hospitals, nursing care centers, communications, and mobile healthcare service providers for the commercialization of Dr. M system.
Professor Hoi-Jun Yoo of the Electrical Engineering Department, who has led the Mobile Healthcare Innovation project said, “One of the great advantages Dr. M can offer is the capability to customize healthcare service based on individuals and ages. For individuals in their twenties, for example, healthcare services such as skincare and diet programs will be more relevant whereas blood pressure monitoring for patients in their fifties and early diagnosis for the recurrence of diseases for those in their seventies. If we define human history in terms of major technology advancements, the first big one was computation, communication for the second, and I think ubiquitous healthcare will be the third one. We will continue to develop Dr. M in collaboration with medical and research organizations.”
A total of 32 professors from the Departments of Electrical Engineering, Computer Science, Industrial and Systems Engineering, Industrial Design, Web Science, Knowledge Service Engineering, and the Information Security Graduate School participated in the Mobile Healthcare Innovation project.
2015.03.17 View 9909 -
Emeritus Professors' Social Service for Embracing Multicultural Families
Korea has become a melting pot over recent years, with many families embracing diverse nationalities, cultures, and ethnicities. A group of KAIST emeritus professors volunteered to help these multicultural families, which are often formed through international marriages, better cope with life in Korea by creating a continuing education program called “Multicultural Mother School.”
The school admitted a total of ten non-Korean mothers for its first class and held an entrance ceremony for the students on March 14, 2015, at the IFC Hope Church in Daejeon. Classes began since March 16, 2015, offering the first lecture to students remotely via the Internet.
Professor Emeritus Byung-Kyu Choi, who organized the volunteering program and is the director of the Multicultural Mother School, said, “About 5% of newborns in Korea currently come from multicultural families. It is important that we should support them to assimilate well into the Korean society. Since 60% of multicultural children have yet to enter the public school system, particularly at the elementary schools level, offering their mothers opportunities to learn more about Korea will serve a greater good.”
2015.03.14 View 5731 -
KAIST Introduces New UI for K-Glass 2
A newly developed user interface, the “i-Mouse,” in the K-Glass 2 tracks the user’s gaze and connects the device to the Internet through blinking eyes such as winks. This low-power interface provides smart glasses with an excellent user experience, with a long-lasting battery and augmented reality.
Smart glasses are wearable computers that will likely lead to the growth of the Internet of Things. Currently available smart glasses, however, reveal a set of problems for commercialization, such as short battery life and low energy efficiency. In addition, glasses that use voice commands have raised the issue of privacy concerns.
A research team led by Professor Hoi-Jun Yoo of the Electrical Engineering Department at the Korea Advanced Institute of Science and Technology (KAIST) has recently developed an upgraded model of the K-Glass (http://www.eurekalert.org/pub_releases/2014-02/tkai-kdl021714.php) called “K-Glass 2.”
K-Glass 2 detects users’ eye movements to point the cursor to recognize computer icons or objects in the Internet, and uses winks for commands. The researchers call this interface the “i-Mouse,” which removes the need to use hands or voice to control a mouse or touchpad. Like its predecessor, K-Glass 2 also employs augmented reality, displaying in real time the relevant, complementary information in the form of text, 3D graphics, images, and audio over the target objects selected by users.
The research results were presented, and K-Glass 2’s successful operation was demonstrated on-site to the 2015 Institute of Electrical and Electronics Engineers (IEEE) International Solid-State Circuits Conference (ISSCC) held on February 23-25, 2015 in San Francisco. The title of the paper was “A 2.71nJ/Pixel 3D-Stacked Gaze-Activated Object Recognition System for Low-power Mobile HMD Applications” (http://ieeexplore.ieee.org/Xplore/home.jsp).
The i-Mouse is a new user interface for smart glasses in which the gaze-image sensor (GIS) and object recognition processor (ORP) are stacked vertically to form a small chip. When three infrared LEDs (light-emitting diodes) built into the K-Glass 2 are projected into the user’s eyes, GIS recognizes their focal point and estimates the possible locations of the gaze as the user glances over the display screen. Then the electro-oculography sensor embedded on the nose pads reads the user’s eyelid movements, for example, winks, to click the selection. It is worth noting that the ORP is wired to perform only within the selected region of interest (ROI) by users. This results in a significant saving of battery life. Compared to the previous ORP chips, this chip uses 3.4 times less power, consuming on average 75 milliwatts (mW), thereby helping K-Glass 2 to run for almost 24 hours on a single charge.
Professor Yoo said, “The smart glass industry will surely grow as we see the Internet of Things becomes commonplace in the future. In order to expedite the commercial use of smart glasses, improving the user interface (UI) and the user experience (UX) are just as important as the development of compact-size, low-power wearable platforms with high energy efficiency. We have demonstrated such advancement through our K-Glass 2. Using the i-Mouse, K-Glass 2 can provide complicated augmented reality with low power through eye clicking.”
Professor Yoo and his doctoral student, Injoon Hong, conducted this research under the sponsorship of the Brain-mimicking Artificial Intelligence Many-core Processor project by the Ministry of Science, ICT and Future Planning in the Republic of Korea.
Youtube Link:
https://www.youtube.com/watchv=JaYtYK9E7p0&list=PLXmuftxI6pTW2jdIf69teY7QDXdI3Ougr
Picture 1: K-Glass 2
K-Glass 2 can detect eye movements and click computer icons via users’ winking.
Picture 2: Object Recognition Processor Chip
This picture shows a gaze-activated object-recognition system.
Picture 3: Augmented Reality Integrated into K-Glass 2
Users receive additional visual information overlaid on the objects they select.
2015.03.13 View 15405