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Foundation's first medical director honored with lifetime achievement award

Laird G. Jackson, MD, FFACMG, was honored with the 2017 American College of Medical Genetics and Genomics (ACMG) Foundation David L. Rimoin Lifetime Achievement Award.Dr. Jackson became involved with CdLS from 1962 to the present, and even mentored current CdLS Foundation Medical Director Tonie Kline, M.D. He currently teaches obstetrics, gynecology, and medical genetics at Drexel University College of Medicine.The David L. Rimoin Lifetime Achievement Award recognizes individuals who have demonstrated the personal characteristics of...

UK research on Cornelia de Lange Syndrome

The Cerebra Centre for Neurodevelopmental Disorders is organized through the School of Psychology at the University of Birmingham. Their work focuses on difficulties experienced by children and adults who have intellectual disabilities, autism spectrum disorders and genetic syndromes. Specifically, those that are associated with developmental delays. Cornelia de Lange Syndrome (CdLS) is one of the six conditions studied.Ms. Laura Groves, Dr. Caroline Richards and Prof. Chris Oliver recently published an anxiety guide for people...

Opportunities for Research Participation at the Yale Child Study Autism Program

Researchers at the Yale Child Study Center Autism Program are launching a pilot research project on social and emotional development of children with Cornelia de Lange Syndrome 5 years or younger. Similar studies are being carried out with children with Autism Spectrum Disorders and other developmental disorders. The aim of the study is to evaluate mechanisms that give rise to social and emotional difficulties in children with CdLS. As part of their participation in the...

Reaching Out Preview - Summer 2012

                                                            In the upcoming issue of Reaching Out, look for new findings on Anesthesia and information about your child's IEP for back to school. ...

Continue reading about Reaching Out Preview - Summer 2012 .

FDA Safety and Innovation Act: A Step Forward for Patients With Rare Diseases - NORD

Here is an interesting article on rare disease patients and families, written by By Peter L. Saltonstall, President and CEO of National Organization for Rare Disorders (NORD) about developments around the FDA Safety and Innovation Act. Here is a short excerpt for a brief preview of what you'll find in the article: "Of particular importance to NORD and the 30 million Americans with rare diseases it represents are the provisions related to: §  Accelerated patient access to new medical treatments...

CdLS Researcher's Work with Fruit Flies Creates Buzz

(From Saint Louis University's web site)Dorsett's Work with Fruit Flies Creates Buzz: Biochemist Credits Lab Team Members for Dedication to ResearchDale Dorsett, Ph.D., a professor in the department of biochemistry and molecular biology, received an award for his research on a genetic syndrome from a national foundation.The award recognizes an individual's significant medical or scientific contributions toward understanding Cornelia de Lange Syndrome and improving the lives of those affected by it."The award really belongs to...


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