Aliso Viejo, CA, United States
Aliso Viejo, CA, United States

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News Article | April 18, 2017
Site: www.businesswire.com

ALISO VIEJO, Calif.--(BUSINESS WIRE)--Ambry Genetics Corporation (Ambry) is calling on psychiatrists, psychologists and behavioral specialists to encourage their patients with autism, along with their family members, to sign up for a new study conducted through Ambry’s data sharing program, AmbryShare. With this program, Ambry is taking a step towards discovering possible associations between genes and autism, so clinicians can provide their patients with targeted treatments and therapies much earlier in life. “What’s unique about AmbryShare’s approach is that we collect genetic information from clinics and families from all over the world to answer questions that can’t be answered with just a handful of patients,” said Brigette Tippin Davis, PhD, Ambry’s Director of Emerging Genetic Medicine. “The great thing about Ambry partnerships is that we are building connections between research institutions and empowering them to develop new approaches to treating patients with autism based on genetic profiles.” So far, dozens of behavioral clinics and other medical offices have contributed to AmbryShare studies by encouraging participation from their patients. Ambry strives to enroll more than 10,000 patients from clinics nationally and internationally. “Genetic testing would allow us to personalize treatment from a genetic profile and optimize it together with our rich behavioral data,” said Dennis Dixon, PhD, Chief Strategy Officer at Center for Autism and Related Disorders (CARD). “I really value working with Ambry, knowing this data will have an impact on treatment for our patients and then will still be available for other researchers to access to answer additional research questions. As we each put more samples in, it increases the overall likelihood that we’re going to find something that really makes a difference.” One in 64 children in the United States is diagnosed with an autism spectrum disorder (ASD), which can impact social interaction, communication and behavior. Genetic testing can help identify an underlying cause in up to 40% of autism spectrum disorders. Some genetic causes include chromosome microdeletions/microduplications, fragile X syndrome, Angelman syndrome, and tuberous sclerosis. New gene discovery can allow clinicians to determine their patient’s course of treatment and the gene-disease relationship associated with their individual case of autism. Through the recruitment of a massive cohort, more data will be collected to discover more genes, develop medical management plans and enact preventive strategies. “The scientists need the data to be out there,” said Charles Dunlop, Ambry’s President and Chairman. “We need to know what these diseases are actually doing, what causes them, what gene mutations are associated with them so we can move forward as an industry and move onto the next phase where there is no disease of any kind. A phase where pharmaceutical researchers know exactly what to do, or exactly what problems they’re trying to solve at a minutiae level—that’s when the cures come.” In 2016, Mayo Clinic and University of Utah collaborated with Ambry on a new research study of more than 60,000 patients to help refine breast cancer risk estimates from predisposition genes that are either previously lacking data or have limited data. The study, “Breast cancer risks associated with mutations in cancer predisposition genes identified by clinical genetic testing of 60,000 breast cancer patients” represented the largest genetic study of women with hereditary breast cancer. The large amount of data was able to provide researchers with new information about genes that contributed to breast cancer risk. Ambry wants to provide researchers with the same capabilities for autism. Since 2001, Ambry has been dedicated to scientific research to help empower the scientific community and refine clinician management guidelines so patients may receive tailored medical management. AmbryShare’s initial launch in 2016 provided scientific researchers and clinicians with the largest open, de-identified database of hereditary breast and ovarian cancer cohorts with the goal of achieving a greater understanding of human disease. For more information and to enroll in the AmbryShare autism study, visit the AmbryShare portal here. Ambry Genetics is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified. Ambry leads in clinical genetic diagnostics and genetics software solutions, combining both to offer the most comprehensive testing menu in the industry. Ambry has established a reputation for sharing data while safeguarding patient privacy, unparalleled service, and responsibly applying new technologies to the clinical molecular diagnostics market. For more information about Ambry Genetics, visit www.ambrygen.com. About the Center for Autism and Related Disorders (CARD) CARD treats individuals of all ages who are diagnosed with autism spectrum disorder (ASD) at treatment centers around the globe. CARD was founded in 1990 by leading autism expert and clinical psychologist Doreen Granpeesheh, PhD, BCBA-D. CARD treats individuals with ASD using the principles of applied behavior analysis (ABA), which is empirically proven to be the most effective method for treating individuals with ASD and recommended by the American Academy of Pediatrics and the US Surgeon General. CARD employs a dedicated team of over 3,000 individuals across the nation and internationally. For more information, visit www.centerforautism.com or call (855) 345-2273.


Beer S.,Boston University | Zhou J.,Boston University | Szabo A.,Boston University | Keiles S.,Ambry Genetics Corporation | And 3 more authors.
Gut | Year: 2013

Objective: The digestive enzyme chymotrypsin C (CTRC) protects against pancreatitis by promoting degradation of trypsinogen, thereby curtailing potentially harmful trypsinogen activation. Loss-of-function variants in CTRC increase the risk for chronic pancreatitis. The aim of the present study was to perform comprehensive functional analysis of all missense CTRC variants identified to date. Design: We investigated secretion, activity and degradation of 27 published and five novel CTRC mutants. We also assessed the effect of five mutants on endoplasmic reticulum (ER) stress. Results: None of the mutants exhibited a gain of function, such as increased secretion or activity. By contrast, 11 mutants showed marked loss of function, three mutants had moderate functional defects, whereas 18 mutants were functionally similar to wild-type CTRC. The functional deficiencies observed were diminished secretion, impaired catalytic activity and degradation by trypsin. Mutants with a secretion defect caused ER stress that was proportional to the loss in secretion. ER stress was not associated with loss-of-function phenotypes related to catalytic defect or proteolytic instability. Conclusions: Pathogenic CTRC variants cause loss of function by three distinct but mutually non-exclusive mechanisms that affect secretion, activity and proteolytic stability. ER stress may be induced by a subset of CTRC mutants, but does not represent a common pathological mechanism of CTRC variants. This phenotypic dataset should aid in the classification of the clinical relevance of CTRC variants identified in patients with chronic pancreatitis.


Trademark
Ambry Genetics Corporation | Date: 2013-06-11

Testing kits containing reagents used to analyze and detect genetic defects which may be implicated in disease for clinical or medical laboratory use; Diagnostic preparations for scientific or research use; Diagnostic preparations for clinical or medical laboratory use; Diagnostic reagents for clinical or medical laboratory use. Medical research; DNA analysis services for research; Scientific research services. Medical screening; Medical testing services for diagnostic or treatment purposes; DNA screening for medical purposes.


Trademark
Ambry Genetics Corporation | Date: 2013-06-11

Testing kits containing reagents used to analyze and detect genetic defects which may be implicated in disease for clinical or medical laboratory use; Diagnostic preparations for scientific or research use; Diagnostic preparations for clinical or medical laboratory use; Diagnostic reagents for clinical or medical laboratory use. Medical research; DNA analysis services for research; Scientific research services. Medical screening; Medical testing services for diagnostic or treatment purposes; DNA screening for medical purposes.


Trademark
Ambry Genetics Corporation | Date: 2013-06-18

Diagnostic preparations for scientific or research use; Diagnostic preparations for clinical or medical laboratory use; Testing kits containing reagents used to analyze and detect genetic defects which may be implicated in disease for clinical or medical laboratory use; Diagnostic preparations for scientific or research use; Diagnostic preparations for clinical or medical laboratory use; Diagnostic reagents for clinical or medical laboratory use. DNA analysis services for scientific and medical research purposes, namely, DNA sequencing services, analyzing DNA sequences for genetic variations across different sample populations, correlating DNA sequence variations of sample populations with data indicating effectiveness of medical treatment of the populations, screening DNA sequences to determine the presence or absence of genetic variations that correlate to effectiveness of a proposed medical treatment, confirming or establishing a genetic disorder, Mendelian disease gene discovery, and DNA analysis services under certification standards; Medical testing for medical research purposes, namely, performing exome sequencing services for researchers performing work in connection with human diseases; Scientific research services, namely, analyzing biological samples including cells and cell extracts for the presence, absence or abundance of nucleic acid, polypeptide or molecular markers associated with cell identity or differentiation, and identifying cell stage by detecting or measuring cell differentiation markers; Medical research; DNA analysis services for research; Scientific research services. Medical testing services for diagnostic or treatment purposes; Medical screening; DNA screening for medical purposes.


Trademark
Ambry Genetics Corporation | Date: 2013-06-18

Diagnostic preparations for scientific or research use; Diagnostic preparations for clinical or medical laboratory use; Testing kits containing reagents used to analyze and detect genetic defects which may be implicated in disease for clinical or medical laboratory use; Diagnostic preparations for scientific or research use; Diagnostic preparations for clinical or medical laboratory use; Diagnostic reagents for clinical or medical laboratory use. DNA analysis services for scientific and medical research purposes, namely, DNA sequencing services, analyzing DNA sequences for genetic variations across different sample populations, correlating DNA sequence variations of sample populations with data indicating effectiveness of medical treatment of the populations, screening DNA sequences to determine the presence or absence of genetic variations that correlate to effectiveness of a proposed medical treatment, confirming or establishing a genetic disorder, Mendelian disease gene discovery, and DNA analysis services under certification standards; Medical testing for medical research purposes, namely, performing exome sequencing services for researchers performing work in connection with human diseases; Scientific research services, namely, analyzing biological samples including cells and cell extracts for the presence, absence or abundance of nucleic acid, polypeptide or molecular markers associated with cell identity or differentiation, and identifying cell stage by detecting or measuring cell differentiation markers; Medical research; DNA analysis services for research; Scientific research services. Medical testing services for diagnostic or treatment purposes; Medical screening; DNA screening for medical purposes.


Trademark
Ambry Genetics Corporation | Date: 2013-06-18

Diagnostic preparations for scientific or research use; Diagnostic preparations for clinical or medical laboratory use; Testing kits containing reagents used to analyze and detect genetic defects which may be implicated in disease for clinical or medical laboratory use; Diagnostic preparations for scientific or research use; Diagnostic preparations for clinical or medical laboratory use; Diagnostic reagents for clinical or medical laboratory use. DNA analysis services for scientific and medical research purposes, namely, DNA sequencing services, analyzing DNA sequences for genetic variations across different sample populations, correlating DNA sequence variations of sample populations with data indicating effectiveness of medical treatment of the populations, screening DNA sequences to determine the presence or absence of genetic variations that correlate to effectiveness of a proposed medical treatment, confirming or establishing a genetic disorder, Mendelian disease gene discovery, and DNA analysis services under certification standards; Medical testing for medical research purposes, namely, performing exome sequencing services for researchers performing work in connection with human diseases; Scientific research services, namely, analyzing biological samples including cells and cell extracts for the presence, absence or abundance of nucleic acid, polypeptide or molecular markers associated with cell identity or differentiation, and identifying cell stage by detecting or measuring cell differentiation markers; Medical research; DNA analysis services for research; Scientific research services. Medical testing services for diagnostic or treatment purposes; Medical screening; DNA screening for medical purposes.


Trademark
Ambry Genetics Corporation | Date: 2013-06-18

Diagnostic preparations for scientific or research use; Diagnostic preparations for clinical or medical laboratory use; Testing kits containing reagents used to analyze and detect genetic defects which may be implicated in disease for clinical or medical laboratory use; Diagnostic preparations for scientific or research use; Diagnostic preparations for clinical or medical laboratory use; Diagnostic reagents for clinical or medical laboratory use. DNA analysis services for scientific and medical research purposes, namely, DNA sequencing services, analyzing DNA sequences for genetic variations across different sample populations, correlating DNA sequence variations of sample populations with data indicating effectiveness of medical treatment of the populations, screening DNA sequences to determine the presence or absence of genetic variations that correlate to effectiveness of a proposed medical treatment, confirming or establishing a genetic disorder, Mendelian disease gene discovery, and DNA analysis services under certification standards; Medical testing for medical research purposes, namely, performing exome sequencing services for researchers performing work in connection with human diseases; Scientific research services, namely, analyzing biological samples including cells and cell extracts for the presence, absence or abundance of nucleic acid, polypeptide or molecular markers associated with cell identity or differentiation, and identifying cell stage by detecting or measuring cell differentiation markers; Medical research; DNA analysis services for research; Scientific research services. Medical testing services for diagnostic or treatment purposes; Medical screening; DNA screening for medical purposes.


Trademark
Ambry Genetics Corporation | Date: 2013-06-18

Diagnostic preparations for scientific or research use; Diagnostic preparations for clinical or medical laboratory use; Testing kits containing reagents used to analyze and detect genetic defects which may be implicated in disease for clinical or medical laboratory use; Diagnostic preparations for scientific or research use; Diagnostic preparations for clinical or medical laboratory use; Diagnostic reagents for clinical or medical laboratory use. DNA analysis services for scientific and medical research purposes, namely, DNA sequencing services, analyzing DNA sequences for genetic variations across different sample populations, correlating DNA sequence variations of sample populations with data indicating effectiveness of medical treatment of the populations, screening DNA sequences to determine the presence or absence of genetic variations that correlate to effectiveness of a proposed medical treatment, confirming or establishing a genetic disorder, Mendelian disease gene discovery, and DNA analysis services under certification standards; Medical testing for medical research purposes, namely, performing exome sequencing services for researchers performing work in connection with human diseases; Scientific research services, namely, analyzing biological samples including cells and cell extracts for the presence, absence or abundance of nucleic acid, polypeptide or molecular markers associated with cell identity or differentiation, and identifying cell stage by detecting or measuring cell differentiation markers; Medical research; DNA analysis services for research; Scientific research services. Medical testing services for diagnostic or treatment purposes; Medical screening; DNA screening for medical purposes.


Trademark
Ambry Genetics Corporation | Date: 2016-08-29

Diagnostic preparations for scientific or research use; diagnostic preparations for clinical or medical laboratory use. Diagnostic preparations for medical purposes. Genetic testing for medical purposes.

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