Introductory Genetics





2013 AUCD Workshop: Essential Genetics for LEND and UCEDD Directors

AUCD Pre-Conference Workshop

Through a team-based learning format, this workshop provided the knowledge, skills, and attitudes that will help participants integrate genetics into the care that they provide to individuals with neurodevelopmental disabilities.



Top 10 Genetic Resources for Pediatric Primary Care Providers (from Genetics in Primary Care Institute)

Submitted by: John Moeschler, MD, New Hampshire LEND

There are many useful Web sites that provide information about initiating a genetic diagnostic work-up and responding to unexpected clinical situations such as an abnormal newborn screening result, prenatal fetal abnormalities or patients who present with multiple congenital anomalies. In addition, there are Web sites that health care providers can refer families to for additional information on genetic conditions, as well as links or contact information for support organizations, according to the webinar presentation, �Top 10 Genetics Resources for Pediatric Primary Care Providers,� held on October 25, 2012. The webinar, which featured Beth A. Pletcher, MD, FAAP, FACMG, was part of the Time Out for Genetics webinar series hosted by the Genetics in Primary Care Institute (GPCI).



Genetics Online Learning Modules - VA LEND

Submitted by: Joann Bodurtha (VA LEND in 2009)

Each module incorporates three cases in which the learner reaches different outcomes based on their decision path. They have been field tested and evaluated by a variety of health care providers and graduate students. These modules may be integrated as part of a lecture or course, given as a learning activity, or provided as a resource. LEND programs are encouraged to consider incorporating the modules to further incorporate genetic counseling into LEND training.



Genetics Awareness Learning Module

Submitted by: Joann Bodurtha (VA LEND in 2007)

The first in a three-part series of tools developed by the VA LEND under the AUCD LEND Genetics Grants.


Related Links



Website: American Academy of Pediatrics (AAP), Genetics in Primary Care Institute

In 2011, the Health Resources & Services Administration Maternal & Child Health Bureau and the AAP established a cooperative agreement to establish the Genetics in Primary Care Institute. The mission of the Genetics in Primary Care Institute (GPCI) is to increase primary care provider (PCP) knowledge and skills in providing genetic-based services. - See more at:



Website: Genetics Home Reference

Submitted by:Joann Bodurtha, MD, MPH, FAAP, FACMG, McKusick-Nathans Institute of Genetic Medicine

Physicians and families can now turn to Genetics Home Reference, a new online resource from the National Institutes of Health, to explain and understand over 500 topics on genetic conditions and related genes. The site features an illustrated tutorial that explains the basics of genetics and includes a glossary of genetics terms. The lay-friendly site is particularly helpful to parents whose newborns have been detected with a genetic condition, and are looking for easy-to-read information on specific conditions.



Website: Online Genetics Education Resources


This site, organized by the National Institutes of Health (NIH), contains numerouse links to educational resources.



Website: Genetic Alliance

Genetic Alliance is the world�s leading nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities. Genetic Alliance�s network includes more than 1,200 disease-specific advocacy organizations, as well as thousands of universities, private companies, government agencies, and public policy organizations.



AUCD Webinar: Southeast Regional Consortium and AUCD Presents! Genetic Factors Contributing to Disability

Submitted by:Tyler Reimschisel MD, LEND Director, Vanderbilt Kennedy Center, TN
Source: Southeast Regional Consortium and Tyler Reimschisel, MD

This 60 minute webinar begins with a brief overview of the recent history of genetic and genomic medicine, with special emphasis on the rapid pace with which discoveries have been made in this burgeoning field. A significant portion of the broadcast is devoted to a discussion of the most common genetic tests that can be utilized in the evaluation of individuals with developmental disabilities.



GPCI Webinar: Family History in Primary Care

Submitted by:Joann Bodurtha, MD, MPH, FAAP, FACMG, McKusick-Nathans Institute of Genetic Medicine
Source: Genetics in Primary Care Institute

Webinar Learning Objectives 1. Identify the utility of an evolving family history in the era of genomic medicine 2. Establish the capacity to use genetic information to tier patient risk 3. Formulate and utilize focused, problem-based family history questions and establish a system for creating a comprehensive family history 4. Apply various strategies in patient/family communication





GEMSS (Genetic Education Materials for School Success)

Submitted by: Ann Dillon, LEND New Hampshire

The aim of GEMSS is to assure all children with genetic health conditions succeed in school-life. Children who have genetic conditions are members of neighborhood schools across the country. In fact, it is estimated that about 1 in 20 children have a genetic condition.



Essential Genetics Workshop: Case Studies

Submittted by: Tyler Reimschisel, MD, Vanderbilt LEND & Joann Bodurtha, MD, MPH, FAAP, FACMG,McKusick-Nathans Institute of Genetic Medicine

These case studies include questions for discussion and an answer key for students and faculty. These cases were developed for the 2013 AUCD Pre-Conference Workshop: Essential Genetics For LEND and UCEDD Programs.



Genetic Rounds: A Doctor's Encounters in the Field that Revolutionalized Medicine

By: Robert Marion, MD

Bob Marion, PhD, examines his patients' genetic secrets- information they sometimes don't reveal even to close relatives- in order to help them make family planning decisions. His ability to solve medical mysteries can be a blessing: after a mother is accused of child abuse, Marion is able to use genetic analysis to diagnose brittle bone disease in the baby and to help return the infant to her mother. Read more>>>




I will use resources from this site in my current work.



Something Missing? Suggestions? Thank you for your feedback and time! Contact us