American Journal of Medical Genetics Part C: Seminars in Medical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies
The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential role in regulation of normal cell growth, metabolism, and survival. Somatic activating mutations in the PI3K/AKT/mTOR pathway are among the most common mutations identified in cancer, and have been shown to cause a spectrum of overgrowth syndromes including PIK3CA‐Related Overgrowth Spectrum, Proteus syndrome, and brain overgrowth conditions. Clinical findings in these disorders may be isolated or multiple, including sporadic or mosaic overgrowth (adipose, skeletal, muscle, brain, vascular, or lymphatic), and skin abnormalities (in...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - August 31, 2016 Category: Genetics & Stem Cells Authors: Kim M. Keppler ‐Noreuil, Victoria E.R. Parker, Thomas N. Darling, Julian A. Martinez‐Agosto Tags: Research Review Source Type: research

Alternative designs for clinical trials in rare diseases
Evidence‐based medicine requires strong scientific evidence upon which to base treatment. In rare diseases, study populations are often small, and thus this evidence is difficult to accrue. Investigators, though, should be creative and develop a flexible toolkit of methods to deal with the problems inherent in the study of rare disease. This narrative review presents alternative clinical trial designs for studying treatments of rare diseases, including cross‐over and n‐of‐1 trials, randomized placebo‐phase design, enriched enrollment, randomized withdrawal design, and classes of adaptive designs. Examples of appl...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - August 31, 2016 Category: Genetics & Stem Cells Authors: Lusine Abrahamyan, Brian M. Feldman, George Tomlinson, Marie E. Faughnan, Sindhu R. Johnson, Ivan R. Diamond, Samir Gupta Tags: Research Article Source Type: research

Gene and cell ‐based therapies for inherited retinal disorders: An update
Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for inherited retinal disease have the ability to reverse blindness, and current dietary supplement recommendations only delay disease progression with varied results. However, the retina is anatomically accessible and capable of being monitored at high resolution in vivo. This, in addition to the immune‐privileged status of the eye, has put ocular disease at the forefront of advances in gene‐ and cell‐based therapies. This review provides an update on gene th...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - August 31, 2016 Category: Genetics & Stem Cells Authors: Jesse D. Sengillo, Sally Justus, Yi ‐Ting Tsai, Thiago Cabral, Stephen H. Tsang Tags: Research Article Source Type: research

Chromosome therapy: Potential strategies for the correction of severe chromosome aberrations
Large chromosomal aberrations occur commonly during development, resulting in complex and multisystem diseases. In spite of this high frequency, there are currently no means for correcting these disorders due to their complexity and involvement of multiple genes. Recently, several new approaches have been devised that target whole chromosomes in vitro, which are collectively referred to as “Chromosome Therapies.” These include silencing and selection for loss of the extra chromosome in trisomies, promotion of euploidy in an aneuploid culture, and forced loss and replacement of a chromosome. Here, we provide a review of...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - August 31, 2016 Category: Genetics & Stem Cells Authors: Kathleen Plona, Taehyun Kim, Katherine Halloran, Anthony Wynshaw ‐Boris Tags: Research Review Source Type: research

Emerging cellular and gene therapies for congenital anemias
Congenital anemias comprise a group of blood disorders characterized by a reduction in the number of peripherally circulating erythrocytes. Various genetic etiologies have been identified that affect diverse aspects of erythroid physiology and broadly fall into two main categories: impaired production or increased destruction of mature erythrocytes. Current therapies are largely focused on symptomatic treatment and are often based on transfusion of donor‐derived erythrocytes and management of complications. Hematopoietic stem cell transplantation represents the only curative option currently available for the majority of...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - August 31, 2016 Category: Genetics & Stem Cells Authors: Leif S. Ludwig, Rajiv K. Khajuria, Vijay G. Sankaran Tags: Research Review Source Type: research

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities
This paper reports on the clinical aspects, electroencephalographic (EEG) features, and neuroimaging findings in children with full trisomy 18 and associated epilepsy, and compares the evolution and outcome of their neurological phenotype. We retrospectively studied 18 patients (10 males and 8 females; aged 14 months to 9 years) with full trisomy 18 and epilepsy. All patients underwent comprehensive assessment including neuroimaging studies of the brain. We divided patients into two groups according to neuroimaging findings: (Group 1) 10 patients harboring structural brain malformations, and (Group 2) 8 patients with norma...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - August 12, 2016 Category: Genetics & Stem Cells Authors: Sara Matricardi, Alberto Spalice, Vincenzo Salpietro, Gabriella Di Rosa, Maria Cristina Balistreri, Salvatore Grosso, Pasquale Parisi, Maurizio Elia, Pasquale Striano, Patrizia Accorsi, Raffaella Cusmai, Nicola Specchio, Giangennaro Coppola, Salvatore Sav Tags: Research Article Source Type: research

Cornelia de Lange Syndrome
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 15, 2016 Category: Genetics & Stem Cells Tags: Cornelia de Lange Syndrome Source Type: research

Prenatal Diagnostics
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 15, 2016 Category: Genetics & Stem Cells Tags: Prenatal Diagnostics Source Type: research

Cytogenetics
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 15, 2016 Category: Genetics & Stem Cells Tags: Cytogenetics Source Type: research

Introduction
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 15, 2016 Category: Genetics & Stem Cells Tags: Introduction Source Type: research

Publication schedule for 2016
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 15, 2016 Category: Genetics & Stem Cells Tags: Issue Information ‐Publication Schedule Source Type: research

Table of Contents, Volume 172C, Number 2, June 2016
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 15, 2016 Category: Genetics & Stem Cells Tags: Issue Information ‐TOC Source Type: research

Cover Image, Volume 172C, Number 2, June 2016
The cover, by Ian D. Krantz, features a composite image from several of his articles including the Introduction Dr. Laird G. Jackson Festschrift, DOI: 10.1002/ajmg.c.31499. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 15, 2016 Category: Genetics & Stem Cells Authors: Sarah E. Noon, Matthew A. Deardorff, Ian D. Krantz Tags: Cover Image Source Type: research

Wilms tumor and trisomy 18: Is there an association?
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 31, 2016 Category: Genetics & Stem Cells Authors: John C. Carey, Ann M. Barnes Tags: Commentary Source Type: research

Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes
The medical management of infants with the trisomy 13 and trisomy 18 syndromes is challenging and controversial. Both conditions have high neonatal and infant mortality, and surviving children display significant cognitive and motor disabilities. Currently, there exists a tension in the neonatal and perinatal communities regarding care. One view holds that management should consist solely of comfort care, while another opinion recommends offering medical and surgical intervention in appropriate situations. The purpose of this manuscript is to present a model for the care of fetuses and infants with trisomy 13 and 18 during...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 31, 2016 Category: Genetics & Stem Cells Authors: Sasha E. Andrews, Ann G. Downey, David Scott Showalter, Heather Fitzgerald, Vivian P. Showalter, John C. Carey, Peter Hulac Tags: Commentary Source Type: research