Navigation Links
Grant Supports Study of Abnormal Ring-Shaped Chromosomes
Date:10/9/2007

- Misshapen Structures Linked to Epilepsy, Mental Retardation -

PHILADELPHIA, Oct. 9 /PRNewswire-USNewswire/ -- 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 Children's 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 Children's 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 Children's Hospital, previously discovered genes responsible for the genetic disease Alagille syndrome, which affects multiple organs. Children's Hospital has one of the world's leading programs for the diagnosis and treatment of genetic diseases in children.

Dr. Spinner will be collaborating with the hospital's 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 world's 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.

The Ring Chromosome 20 Foundation, based in London and New York, was established in 2003 to provide information, resources and assistance to families affected by ring chromosome 20 syndrome. Its Web site is http://www.ring-chromosome-20.org.

About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 430-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu.

Contact: John Ascenzi

Phone: (267) 426-6055

Ascenzi@email.chop.edu


'/>"/>
SOURCE The Children's Hospital of Philadelphia
Copyright©2007 PR Newswire.
All rights reserved

Related medicine news :

1. Indian Doctor granted US patent on organ regeneration
2. Grant of $7 million for Orissa Medical College from Japan
3. Pharmaceutical industries grant for R&D to be monitored
4. Woodruff Foundation Grant To Support Doctorate Of Nursing Practice Program
5. $2.4 Million Grant To Unravel The Mystery Of Language Recognition.
6. Indonesia urges a grant of $1 billion for bird flu
7. Bail Granted To The Doctor Despite Her Patients Death
8. RPB grants $7.9 Million Towards Research
9. Delay in $ 260 M grant by World Bank to Kenya due to corruption allegations
10. Devil in The Dock: Fraud Doctor Swindles Immigrants with Fake tests gets freaked out!
11. Indian, Chinese Students In France To Receive Grant From Thales
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/16/2017)... ... ... Maury Regional Health has announced a large-scale adoption of AccuVein vein visualization ... Regional Medical Center is making vein visualization part of their standard of care. , ... importantly, helps our staff members locate a vein that will provide good access to ...
(Date:8/16/2017)... ... August 16, 2017 , ... A global leader in the treatment ... clinics in all 29 Indian states—bringing the country one step closer to eliminating clubfoot ... the nonprofit organization is on track to enroll 10,000 children in the clubfoot treatment ...
(Date:8/16/2017)... ... , ... Fusion Flix Inc., a Telly Award Winning, Non Profit Corporation has ... viewers in a partnership with the Amazon Video Direct Streaming Distribution Platform. , Their ... Ray disc in 2018. Proceeds will be going to further health research. , ...
(Date:8/16/2017)... (PRWEB) , ... August 16, 2017 , ... TopConsumerReviews.com recently ... Lab Testing . , The healthcare industry in the United States has undergone ... are the days of needing to have a doctor’s order to get a blood ...
(Date:8/16/2017)... , ... August 16, 2017 , ... First Choice ... States, named Dr. Douglas J. Harrison, as the new Medical Director of its Sienna ... new facility Medical Director of our Sienna Plantation location,” said Dr. Michael (Derek) Caraway, ...
Breaking Medicine News(10 mins):
(Date:8/15/2017)... , Aug. 15, 2017  AOTI Inc. announced today that its ... Inc., has recently opened a New York City Office in ... of its unique Topical Wound Oxygen (TWO 2 ) homecare therapy. ... Accreditation Commission for Health Care (ACHC) under the company,s DMEPOS accreditation ... ...
(Date:8/8/2017)... Israel, Aug. 8, 2017  BioLineRx Ltd. (NASDAQ/TASE: BLRX), ... today reports its financial results for the second quarter ... during the second quarter 2017 and to date: ... clinical development programs for the Company,s lead project, BL-8040: ... pivotal study with BL-8040 as novel stem cell mobilization ...
(Date:8/7/2017)... Mich. , Aug. 7, 2017 Diplomat Pharmacy, ... of Joel Saban as president, effective Aug. 7, ... Urick has decided to pursue other interests and will ... "During his tenure, Paul has served us in multiple leadership ... Specialty Pharmacy in Jun. 2015 and has provided decisive, strategic ...
Breaking Medicine Technology: