Navigation Links
Grant supports study of abnormal ring-shaped chromosomes
Date:10/9/2007

When chromosomes, which are normally bar-shaped, instead bend into a ring before birth, they may disrupt normal development and cause a multitude of problems. Genetics experts at The Childrens Hospital of Philadelphia will be investigating one such disorder, supported by a $126,000 grant from the Ring Chromosome 20 Foundation.

Ring chromosome 20 syndrome, so-called because it affects the 20th of the 23 human chromosomes, often causes a severe form of epilepsy that is difficult to treat. First described in 1972, it is considered relatively rare. The actual prevalence is uncertain, because it may go undiagnosed in some patients with severe epilepsy, says Nancy B. Spinner, Ph.D., a geneticist at Childrens Hospital who leads the new project.

We believe that the abnormal ring shape that occurs in this disorder interferes with the normal function of genes on chromosome 20, leading to the pattern of abnormalities seen in patients, added Dr. Spinner. In addition to epilepsy, the symptoms, manifesting themselves in childhood or adolescence, may include mental retardation, growth disturbances and small head circumference.

The Ring Chromosome 20 program will initially identify patients with the syndrome, establish cell lines and a clinical database, map the chromosome and analyze patterns of gene expression, in building a knowledge foundation for eventually guiding the way to future treatments for the disorder.

Dr. Spinner, the director of the Clinical Cytogenetics Laboratory at Childrens Hospital, previously discovered genes responsible for the genetic disease Alagille syndrome, which affects multiple organs. Childrens Hospital has one of the worlds leading programs for the diagnosis and treatment of genetic diseases in children.

Dr. Spinner will be collaborating with the hospitals new Center for Applied Genomics to better define the molecular defects occurring in ring chromosome 20 syndrome. Established in July 2006, the center is the worlds largest program dedicated to genetic analysis of childhood diseases. After we understand the underlying molecular processes, we hope this will lead to the development of potential treatments for the syndrome, said Dr. Spinner, who is a professor of Human Genetics in Pediatrics at the University of Pennsylvania School of Medicine.


'/>"/>

Contact: John Ascenzi
Ascenzi@email.chop.edu
267-426-6055
Children's Hospital of Philadelphia
Source:Eurekalert

Related biology news :

1. Researcher gets NSF grant to create mutant maize lines
2. $6.5 Million Grant for Microarray Center at Yale School of Medicine
3. MSU researchers receive $4 million grant to uncover gene functions
4. Virulizin granted orphan drug status in Europe
5. New NIAID grants strengthen national biodefense and emerging infectious diseases research network
6. Asian immigrants in NYC not receiving HIV education at religious institutions
7. Federal grant funds research on novel HIV therapy
8. Boston University biomedical engineers win major grant for pursuit of the $1,000 Genome
9. Scientists win grants to develop $1,000 genome sequencing technology
10. First Quantum Grant to fund stem cell repair of damage from stroke
11. In presence of fragrant cleaning products, air purifiers that emit ozone can dirty the air
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/29/2017)... CHICAGO , March 29, 2017  higi, the ... ecosystem in North America , today ... Partners and the acquisition of EveryMove. The new investment ... extensive set of tools to transform population health activities ... and lifestyle data. higi collects and secures ...
(Date:3/24/2017)... , March 24, 2017 The Controller General of ... Mr. Abdulla Algeen have received the prestigious international IAIR Award ... Continue Reading ... ... and Deputy Controller Abdulla Algeen (small picture on the right) have received ...
(Date:3/23/2017)... -- Research and Markets has announced the addition of ... Industry Forecast to 2025" report to their offering. ... The Global Vehicle Anti-Theft ... 8.8% over the next decade to reach approximately $14.21 billion by ... and forecasts for all the given segments on global as well ...
Breaking Biology News(10 mins):
(Date:8/16/2017)... OH (PRWEB) , ... August 16, 2017 , ... ... a beneficial microbe delivery system, announced it has secured $2M in funding from ... Queen City Angels, Carmen Innovations, and SVG Thrive Fund. With this investment, 3Bar ...
(Date:8/16/2017)... and OXFORD, England , Aug. 16, 2017 ... for biotech executive search and leadership development, and Virdis Group, ... have created an exclusive alliance that enables clients to leverage ... "For our clients here in the ... access to a diverse population of leadership talent throughout the ...
(Date:8/15/2017)... ... August 15, 2017 , ... Nanomedical Diagnostics , ... development, announces the launch of the new NHS Agile biosensor chip . ... data for a wide range of molecules, including small and large molecules, peptides, ...
(Date:8/15/2017)... ... 2017 , ... Kenall, a leader in sealed solid-state lighting, ... sealed and perform efficiently for years. The downlights are ideal for a variety ... such as: hospitals; behavioral health facilities; cleanrooms; containment areas; food and pharmaceutical processing ...
Breaking Biology Technology: