"This discovery represents a significant advance in the fight against this debilitating condition." says Dr. Koenekoop, Director of the McGill Ocular Genetics Centre at the MUHC and Associate Professor in Ophthalmology, Human Genetics at McGill University. He is also principal co-investigator of this study with Dr. Anneke den Hollander, and Dr. Frans Cremers from The University of Nijmegen in the Netherlands.
LCA causes blindness from birth or during the first few months of life. About 600 patients with LCA are currently being diagnosed and managed at the McGill Ocular Genetics Center of the MUHC, directed by Dr. Koenekoop. The disorder affects 1 in 30,000 newborns, and is currently incurable. "This is about to change, however," says Dr. Koenekoop. "Our discovery has major implications for improved screening. It also opens avenues for treatment of LCA."
Discovery of the CEP290 gene and a single mutation found in 20 percent of LCA patients will significantly speed up the genetic testing process for blind children. From a therapeutic viewpoint, this discovery adds another pathway for possible therapeutic manipulation and paves the way for a human gene replacement trial of a related LCA gene (RPE65) in early 2007. If this trial is successful, gene replacement therapy may not be far off.
Prior to Dr. Koenekoop's discovery, LCA had been linked to mutations in eight genes. Together, these mutations account for about 45 percent of cases. By studying members of a Quebec family affected by LCA, Dr. Koenekoop's team, which includes research associate and molecular biologist Dr. Irma Lopez, was able to identify a mutation in a gene known as CEP290. This mutation was detected in 21 percent of unrelated cases - making it one of the most common causes of LCA yet identified. The team's research, which was funded by the Foundation Fighting Blindness Canada, was published in the September 2006 issue of The American Journal of Human Genetics.
"The Foundation Fighting Blindness is dedicated to funding the best research in Canada and Dr. Koenekoop's new gene discovery proves that," says Sharon Colle, National Executive Director. "We believe that childhood blindness is intolerable and that cures really are in sight." The MUHC, in collaboration with Dr. Anneke den Hollander and Dr. Frans Cremers from the University of Nijmegen, will continue research into LCA, conducting functional studies of the CEP290 gene and screening more patients for CEP290 mutations.
Quebec is the perfect place to study genetic diseases like LCA. Quebec's population of approximately 6 million is known as a "founder population" because it can be traced back to a small number (approximately 250) of forefathers. This small gene pool provides the ideal population for the study of genetic disease. "Genetic diseases like LCA are more common in founder populations," says Dr. Koenekoop. "Our patients are enthusiastic about participating in these studies. They realize this research may ultimately lead to improved diagnosis, treatments and cures."
The Montreal Children's Hospital is the pediatric teaching hospital of the McGill University Health Centre (MUHC). The institution is a leader in the care and treatment of sick infants, children, and adolescents from across Quebec. The Montreal Children's Hospital provides a high level and broad scope of health care services, and provides ultra specialized care in many fields including: cardiology and cardiac surgery; neurology and neurosurgery, traumatology; genetic research; psychiatry and child development and musculoskeletal conditions, including orthopedics and rheumatology. Fully bilingual and multicultural, the institution respectfully serves an increasingly diverse community in more than 50 languages.
The McGill University Health Centre is a comprehensive academic health institution with an international reputation for excellence in clinical programs, research and teaching. The MUHC is a merger of five teaching hospitals affiliated with the Faculty of Medicine at McGill University--the Montreal Children's, Montreal General, Royal Victoria, and Montreal Neurological Hospitals, as well as the Montreal Chest Institute. Building on the tradition of medical leadership of the founding hospitals, the goal of the MUHC is to provide patient care based on the most advanced knowledge in the health care field, and to contribute to the development of new knowledge.
Millions through license revenues
27.04.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn
New High-Performance Center Translational Medical Engineering
26.04.2017 | Fraunhofer ITEM
More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.
Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...
Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.
"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...
The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.
Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...
The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...
Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.
Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...
20.04.2017 | Event News
18.04.2017 | Event News
03.04.2017 | Event News
27.04.2017 | Life Sciences
27.04.2017 | Physics and Astronomy
27.04.2017 | Earth Sciences