Navigation Links
HudsonAlpha awarded grant to improve diagnoses of childhood genetic disorders

HUNTSVILLE, Ala -- Even in the absence of a ready solution, knowing why a child faces physical, emotional and intellectual challenges is helpful to physicians and families. Researchers at the HudsonAlpha Institute for Biotechnology are using high throughput genomic sequencing to meet major diagnostic needs for childhood genetic disorders through a multi-year grant potentially totaling more than $7.6 million from the National Institutes of Health.

"Many families and caregivers spend a tremendous amount of time and money seeing different physicians and ending up with no clear explanation of the disorder affecting their child, what has been referred to as a 'diagnostic odyssey'," said Rick Myers, Ph.D., president and director of HudsonAlpha. "If a genetic link is discovered that can explain the disorder, then perhaps doctors will be able to better advise and treat the affected child or connect the family with additional resources including other families facing similar circumstances." Myers, lead investigator on the collaborative project that includes the University of Alabama at Birmingham and the University of Louisville, said this is one of the largest such studies undertaken.

Myers, along with HudsonAlpha faculty investigators Greg Barsh, M.D., Ph.D., Greg Cooper, Ph.D., Neil Lamb, Ph.D, and Shawn Levy, Ph.D., and genetic counselor Kelly East, are working with physicians, scientists and genetic counselors at partner institutions using samples from hundreds of North Alabama children and their families. "We are looking at both the DNA of affected children, as well as their parents," said Myers. "By comparing results in the child with those of the biological parents, we hope to discover changes in DNA that may be responsible for the disorder." The large number of samples, he added, may also help link different mutations to varying degrees of symptoms.

Martina Bebin, M.D., a clinician at the North Alabama Children's Specialists in Huntsville and a UAB researcher and professor, is coordinating and collecting samples.

The innovative study also examines the impact of genetic testing results on individuals. "As the cost of genomic sequencing lowers and enables more frequent clinical use, ethical, legal and social consequences of genetic information escalates," said Myers. "How to deliver information so it does good and not harm is a huge part of this effort."

To facilitate helpful communications, Lamb, director of educational outreach at HudsonAlpha, will develop resources for physicians and patients. The University of Louisville's Kyle Brothers, M.D., will establish metrics to measure and report resource effectiveness.

The study grant is part of the NIH's Clinical Sequencing Exploratory Research program under the direction of the National Human Genome Research Institute. CSER supports both the methods development needed to integrate sequencing into the clinic and the ethical and psychosocial research required to responsibly apply personal genomic sequence data to medical care.


Contact: Holly Ralston
HudsonAlpha Institute for Biotechnology

Related biology news :

1. LSUHSC researcher awarded NCI grant to study link between chronic inflammation and cancer
2. Kessler Foundation awarded more than $1.2 million in grants by the NJ Commission on Sci Research
3. Patent awarded today to NJIT for novel use of water jets to create high tensile strength alloy parts
4. Vijay Tiwari awarded the Bruno Speck Award 2013
5. Bowman Design Group is first US company awarded German FAMAB Sustainable Company certification
6. University of Houston engineering professor awarded grant to study melanoma treatment
7. Scientists awarded $5.5 million for wheat, rice blast research
8. Ben-Gurion U. and Fox Chase Cancer Center awarded NIH measles grant
9. IOF Medal of Achievement awarded to Professor Adolfo Diez-Perez
10. 2013 Wiley Prize to be awarded at Apr. 5 event
11. Scientists awarded £3M to study the way Northwest European seas absorb carbon
Post Your Comments:
(Date:10/29/2015)... 2015 NXTD ) ("NXT-ID" ... on the growing mobile commerce market and creator ... a leading marketplace to discover and buy innovative ... wallet on StackSocial for this holiday season.   ... "Company"), a biometric authentication company focused on the ...
(Date:10/27/2015)... 2015 Synaptics Inc. (NASDAQ: SYNA ), the ... has adopted the Synaptics ® ClearPad ® ... its newest flagship smartphones, the Nexus 5X by LG ... --> --> Synaptics works closely ... collaboration in the joint development of next generation technologies. ...
(Date:10/23/2015)... 23, 2015 Research and Markets ( ... Voice Recognition Biometrics Market 2015-2019" report to their ... The global voice recognition biometrics market to grow ... --> --> The report, ... based on an in-depth market analysis with inputs from ...
Breaking Biology News(10 mins):
(Date:11/27/2015)... , November 27, 2015 ... Growing popularity of companion diagnostics is ... cancer biomarkers market with pharmaceutical companies and ... companion diagnostic tests. . ... Complete report on global cancer biomarkers ...
(Date:11/25/2015)... 2015 --> ... - 2020 report analyzes that automating biobanking workflow ... in long-term samples, minimizing manual errors, improving the ... manual errors such as mislabeling or inaccurate sample ... plays a vital role in blood fractionation, DNA ...
(Date:11/25/2015)... , November 25, 2015 ... cat and human plaque and pave the way for more ... problems in cats     --> ... most commonly diagnosed health problems in cats, yet relatively little ... now. Two collaborative studies have been conducted by researchers from ...
(Date:11/25/2015)... , Nov. 25, 2015 /PRNewswire/ - Aeterna Zentaris ... that its business and prospects remain fundamentally strong ... Zoptrex™ (zoptarelin doxorubicin) recently received DSMB recommendation to ... completion following review of the final interim efficacy ... 2 Primary Endpoint in men with heavily pretreated ...
Breaking Biology Technology: