Entity

Time filter

Source Type

Salt Lake City, UT, United States

Vanzo R.J.,Lineagen | Lortz A.,4p Support Group | Calhoun A.R.U.L.,University of Minnesota | Carey J.C.,University of Utah
American Journal of Medical Genetics, Part A | Year: 2014

Professionals who work in academia, advocacy, and industry often carry out mutually exclusive activities related to research and clinical care. However, there are several examples of collaboration among such professionals that ultimately allows for improved scientific and clinical understanding. This commentary recounts our particular experience (a collaboration between geneticists at the Universities of Minnesota and Utah, the 4p- Support Group, and Lineagen, Inc) and reviews other similar projects. We formally propose this collaborative method as a conduit for future clinical research programs. Specifically, we encourage academicians, directors of family/advocacy/support groups, and members of industry to establish partnerships and document their experiences. The medical community as a whole will benefit from such partnerships and, specifically, families will teach us lessons that could never be learned in a laboratory or textbook. © 2014 Wiley Periodicals, Inc.


Trademark
Lineagen | Date: 2011-10-11

Medical specimen collection and transportation kit comprised of blood collection tubes, foam container for tubes, absorbent pad, biohazard bag, marker, labels, mail packaging, forms and instructions, for molecular and genetic testing for disorders of childhood development. Medical testing services, namely, molecular and genetic testing for disorders of childhood development.


Trademark
Lineagen | Date: 2010-07-28

Medical specimen collection and transportation kit comprised of blood collection tubes, foam container for tubes, absorbent pad, biohazard bag, marker, labels, mail packaging, forms and instructions, for molecular and genetic testing for disorders of childhood development. Medical testing services, namely, molecular and genetic testing for disorders of childhood development.


The present invention relates generally to genetic markers for autism spectrum disorders and other childhood developmental delay disorders, in particular to copy number variant genetic markers for autism spectrum disorders.


Vanzo R.J.,Lineagen | Martin M.M.,Lineagen | Sdano M.R.,Lineagen | South S.T.,Arup | South S.T.,University of Utah
European Journal of Medical Genetics | Year: 2013

Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3, has been associated with neurodevelopmental disease including congenital cerebral palsy, hypotonia, quadriplegia, and intellectual disability in a four-generation family. The inheritance pattern in this family was suggested to be maternal imprinting, as all affected individuals inherited the deletion from their fathers and monoallelic protein expression was observed. We present a family in which the proband's phenotype, including autism spectrum disorder, motor delay, and intellectual disability, is consistent with this previous report of KANK1 deletions. However, a paternally inherited deletion in the proband's unaffected sibling did not support maternal imprinting. This family raises consideration of further complexity of the KANK1 locus, including variable expressivity, incomplete penetrance, and the additive effects of additional genomic variants or the potential benign nature of inherited copy number variations (CNVs). However, when considered with the previous publication, our case also suggests that KANK1 may be subject to random monoallelic expression as a possible mode of inheritance. It is also important to consider that KANK1 has two alternately spliced transcripts, A and B. These have differential tissue expression and thus potentially differential clinical significance. Based upon cases in the literature, the present case, and information in the Database of Genomic Variants, it is possible that only aberrations of variant A contribute to neurodevelopmental disease. The familial deletion in this present case does not support maternal imprinting as an inheritance pattern. We suggest that other inheritance patterns and caveats should be considered when evaluating KANK1 deletions, which may become increasingly recognized through whole genome microarray testing, whole genome sequencing, and whole exome sequencing techniques. © 2013 Elsevier Masson SAS.

Discover hidden collaborations