Navigation Links
Peering into genetic defects, CU scientists discover a new metabolic disease
Date:9/5/2013

rstanding the disease and some day being able to head it off or treat it."

For Shaikh, the discovery has meant more than solving a genetic puzzle.

"Laboratory researchers like me don't normally get to meet the people affected by their research. It's been a privilege to meet the Watsons," he says. "They are an amazing family."

When Max's sister Abbey a star athlete -- visited the lab investigating her brother's disease, Shaikh and his team embraced her curiosity and let her join the quest. Max's mother and father, Deana and Steve Watson, grateful to Children's hospital for the care Max received and to CU for leading the research, have done whatever was needed to support the project.

But it hasn't been easy and the discovery doesn't alter Max's condition. Max needs full assistance in all aspects of daily care, including a specialized wheelchair and devices to help him stand and move to a bed. Unable to be in a classroom, he attends school via live internet to the delight of classmates who talk with him on the screen and know his favorite color is yellow.

"We're pretty realistic about all of this," Deana says. "The whole reason we have from the beginning agreed to any sort of studies is that maybe some day, with Max's findings, another family won't be in this situation. We're OK with that and proud Max is playing a part with that."


'/>"/>

Contact: Dan Meyers
dan.meyers@ucdenver.edu
303-724-7904
University of Colorado Denver
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Peering into living cells -- without dye nor fluophore
2. Nearby chimpanzee populations show much greater genetic diversity than distant human populations
3. Will a genetic mutation cause trouble? Ask Spliceman
4. UC Santa Barbara researchers discover genetic link between visual pathways of hydras and humans
5. Perception and preference may have genetic link to obesity
6. A foot in the door to genetic information
7. Genetic survey of endangered Antarctic blue whales shows surprising diversity
8. Epigenetic signatures direct the repair potential of reprogrammed cells
9. Epigenetics and epidemiology -- hip, hype and science
10. Genetic variation in East Asians found to explain resistance to cancer drugs
11. First complete full genetic map of promising energy crop
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/18/2014)... the International Space Station ever starts a "frequent flyers" ... status. Recently the orbiting laboratory has hosted increasing numbers ... returned from the space station in April, and another ... third experiment is planned to launch in December. , ... around the world-- and in space. Model organisms can ...
(Date:9/18/2014)... have built the first smartphone app that automatically ... trends. In other words, your smartphone knows your ... -- and how that affects you. , The ... and loneliness to their academic performance, also may ... example, to monitor mental health, trigger intervention and ...
(Date:9/18/2014)... devastated algal forests in the eastern Mediterranean Sea pose ... their distribution continues to expand as the climate warms, ... team of researchers led by Dr Adriana Vergs of ... Institute for Advanced Studies in Spain, is published in ... team surveyed more than 1000 kilometres of coastline in ...
Breaking Biology News(10 mins):Buzzing with activity: Fruit flies orbit Earth for science 2Buzzing with activity: Fruit flies orbit Earth for science 3Buzzing with activity: Fruit flies orbit Earth for science 4New Dartmouth smartphone app reveals users' mental health, performance, behavior 2New Dartmouth smartphone app reveals users' mental health, performance, behavior 3New Dartmouth smartphone app reveals users' mental health, performance, behavior 4Tropical fish a threat to Mediterranean Sea ecosystems 2
... time of the Babylonians to the Incas, terracing has ... hilly croplands. Designing terrace layouts can be time consuming ... developing a Web-based program that will design multiple farm ... help farm experts choose the most efficient and cost-effective ...
... think of Earth as a nurturing place, straining mightily to maintain ... Gaia hypothesis, named for the ancient Greek goddess of Earth, even ... of giant organism, with its complex systems finely tuned to compensate ... is the Gaia view that is out of kilter, says Peter ...
... National Institutes of Health is launching the first ... for rare and neglected diseases. The $24 million ... for Rare and Neglected Diseases Program, or TRND. ... spring, is unusual because TRND creates a drug ...
Cached Biology News:Web-based program designs more efficient farm terrace layouts 2New book suggests Earth perhaps not such a benevolent mother after all 2New book suggests Earth perhaps not such a benevolent mother after all 3NIH announces new program to develop therapeutics for rare and neglected diseases 2NIH announces new program to develop therapeutics for rare and neglected diseases 3NIH announces new program to develop therapeutics for rare and neglected diseases 4NIH announces new program to develop therapeutics for rare and neglected diseases 5
(Date:9/18/2014)... , Sept. 18, 2014  Neogen Corporation (Nasdaq: ... into a strategic agreement with Merck Animal Health to ... The Igenity Dairy Heifer Program consists of ... on the genetic potential of replacement dairy heifers. The ... is born, and is an excellent tool in the ...
(Date:9/18/2014)... 18, 2014 SeqLL Inc., the ... technology, announced today the closing of a $1M ... by Genomic Diagnostic Technologies, will increase the power ... , Founded in March 2013 by Daniel Jones, ... at Helicos BioSciences, SeqLL has continued to offer ...
(Date:9/18/2014)... touch in the course of a day - ... rely on the chemical industry to turn raw ... products into valuable chemicals that are the ingredients ... Sarina Sarina, who achieved outstanding progress in driving ... temperature using light instead of fossil fuels, has ...
(Date:9/18/2014)... York, NY (PRWEB) September 18, 2014 ... completed negotiations with Salem Realty Group and has acquired ... development space within the Salem Executive Complex adjacent to ... ceremony was held on Friday September 5th. Whitehouse Labs ... refit the entire space specifically for package testing. The ...
Breaking Biology Technology:Merck Animal Health to market Neogen's dairy genomic program 2SeqLL Closes Series-A Funding Round for Expansion of Single Molecule Sequencing 2Using solar energy to turn raw materials into ingredients for every day life 2Whitehouse Labs Announces Package Testing Laboratory Expansion 2Whitehouse Labs Announces Package Testing Laboratory Expansion 3Whitehouse Labs Announces Package Testing Laboratory Expansion 4
... Sept. 14 Savient Pharmaceuticals, Inc. (Nasdaq: ... Drug Administration (FDA) has approved KRYSTEXXA™ (pegloticase), a PEGylated ... chronic gout in adult patients refractory to conventional therapy. ... in patients who have failed to normalize serum uric ...
... SUNNYVALE, Calif., Sept. 14 Molecular Devices, Inc., ... analysis, today announced the launch of two new ... microplate readers, enabling the company to meet all ... future. (Logo:   http://photos.prnewswire.com/prnh/20100406/SF82092LOGO ) ...
... 2011 Fiscal Year Guidance -- HARBIN, China, Sept. 14 /PRNewswire-Asia-FirstCall/ -- ... ... ... var first_result; // Results are keyed by longUrl, so we need to grab the first one. for ...
Cached Biology Technology:FDA Approves KRYSTEXXA™ (pegloticase) for the Treatment of Chronic Gout in Adult Patients Refractory to Conventional Therapy 2FDA Approves KRYSTEXXA™ (pegloticase) for the Treatment of Chronic Gout in Adult Patients Refractory to Conventional Therapy 3FDA Approves KRYSTEXXA™ (pegloticase) for the Treatment of Chronic Gout in Adult Patients Refractory to Conventional Therapy 4FDA Approves KRYSTEXXA™ (pegloticase) for the Treatment of Chronic Gout in Adult Patients Refractory to Conventional Therapy 5FDA Approves KRYSTEXXA™ (pegloticase) for the Treatment of Chronic Gout in Adult Patients Refractory to Conventional Therapy 6FDA Approves KRYSTEXXA™ (pegloticase) for the Treatment of Chronic Gout in Adult Patients Refractory to Conventional Therapy 7FDA Approves KRYSTEXXA™ (pegloticase) for the Treatment of Chronic Gout in Adult Patients Refractory to Conventional Therapy 8Launch of Two New Platforms for Microplate Analysis Expands Reader Portfolio and Ensures Molecular Devices Readers Meet all Combinations of Customer Needs 2Launch of Two New Platforms for Microplate Analysis Expands Reader Portfolio and Ensures Molecular Devices Readers Meet all Combinations of Customer Needs 3Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 2Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 3Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 4Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 5Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 6Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 7Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 8
Ca2+ Channel Ca gamma 2 Purified Anti-Mouse, Anti-Rat, Anti-Human clone Polyclonal, Isotype Rabbit Ig, 50 µl Consult technical datasheet for details....
Rabbit polyclonal to SMURF 2 ( Abpromise for all tested applications). Antigen: A KLH conjugated synthetic peptide (10-30 aa in length) at the N-term of first 50 aa of human SMURF 2. Entrez G...
Goat polyclonal to Centaurin alpha 2**...
... immobilization can be coupled with a ligand such ... create an affinity matrix of choice. Affi-Gel 10 ... amines. Affi-Gel 10 gel couples neutral or basic ... 15 gel couples acidic proteins with pI less ...
Biology Products: