SELECTED STUDIES

 
Call for Submissions
 
 


Victor Almon McKusick
by Herbert E. Abrams 
(oil on canvas, 1990)

Special Series

Victor McKusick and Inbred Populations

 Editors

Prof. Samia Temtamy (Egypt) &
Prof. Talaat I. Farag (Canada)

Please send abstracts and article submissions to samiatemtamy@yahoo.com and tfarag@dal.ca


Amish mother holding child with Ellis-van Creveld Syndrome, one of many genetic diseases Prof. McKusick studied. (Courtesy of the Alan Mason Chesney Medical Archives)

More than 50 years ago, Prof Victor A. McKusick began his research on the genetics of inbred populations beginning with the Amish of Pennsylvania. His encyclopedic book Mendelian Inheritance in Man was published in 12 editions and now exists in an the form of a free internet-based database (Online Mendelian Inheritance in Man-OMIM) for all medical geneticists and scientists.

This Special Series to be published in the Selected Studies Section of the Ambassadors Online Magazine intends to fill the void in the literature about the genetics of inbred populations by looking at the father of medical genetics, Prof. McKusick, exploring his significant contribution to research in this area and charting future directions in the study of inbred populations worldwide.

The series will be edited by two of Prof. McKusick's students, Profs. Samia Temtamy and Talaat I. Farag, who have worked intimately in the area of genetics of inbred populations. The Series will tackle the genetics of inbred populations globally from a multitude of perspectives including: clinical, epidemiological, biochemical, and molecular genetics along with approaches to sociological studies, genetic counseling and preventive genetics. The authors of the contributions will be notable scholars whose research has pioneered this area of genetic investigation.

Scientists from different specializations and from varying geographical regions working on inbred populations (Amish, Bedouin, Finnish, French Acadian, Gypsies, Icelandic, Indian, Inuit, Japanese, Mormons, and others) are invited to submit their research for consideration in this forthcoming series.

Presented below is information from Dr. D.S. Krishna Murthy (MSc, PhD, FCCMG), which emphasizes the importance of studying inbred populations.

 

GENOME FOUNDATION  INDIA
RURAL SATELLITE CENTERS FOR GENETICS DIAGNOSIS AND RESEARCH

 

The Genome Foundation, a non-profit making organization, is a congregation of intellectuals with high professional integrity. It proposes to make a bridge between scientists involved in basic and applied research on one hand and clinicians on the other by having alliances with hospitals and research institutions. It envisages networking with the socially committed organizations, communities and NGOs with similar objectives. It proposes to reduce the burden of genetic disorders in India by providing diagnostic services such as molecular diagnosis, carrier analysis, prenatal diagnosis and genetic counseling, for various genetic diseases such as hemoglobinopathies, muscular dystrophy, neurodegenerative diseases, mental retardation syndromes, bleeding disorders and mitochondrial disorders as well as chromosomal analysis for various syndromes, recurrent abortions and male and female sterility and DNA-profiling related services.

The Genome Foundation will use the information it collects to develop the so-called personalized medicine, whereby treatments can be tailored according to each person’s genome. This has the benefits of providing more appropriate treatment with improved patient outcomes, and better overall standards of health and well-being for the people of India. In the long term, the Genome Foundation hopes to provide the full range of biochemical, cytogenetic and DNA based

diagnostic services for all common disorders across the country.

Sri Devaraj Urs University, Kolar, Karnataka Genesis: In 1984, dedicated and like-minded visionaries headed by Shri R L Jalappa, a champion of

Cooperate Movement, established Sri Devaraj Urs Educational Trust for Backward Classes, to focus on Medical Education and Social Service. The Trust started Sri Devaraj Urs Medical College, Tamaka, Kolar in the year 1986. Through this college the Trust sought to make a significant contribution to Medical Education, Research and Healthcare to Rural population through University Hospital.

As a recently appointed Visiting scientist and consultant at the Genome Foundation, I started setting up the laboratory and training doctors, lab technicians, and research fellows since March 2011. The Genome Center has all the facilities starting from basic chromosome analysis to Genome Analysis (DNA sequencing, Mutation analysis, SNP, etc.  The Rural Center for Genome Foundation is an advanced center for medical genetics, of Sri Devaraj Urs University of Higher Education and Research (SDUAHER), Sri Devaraj Urs Medical College (Undergraduate and Post Graduate Programmes) and R.L.Jalappa Hospital (Charity Hospital with 700+ beds)  Last December, the SDUAHER celebrated its Silver Jubilee, with the former president and well-known nuclear scientist (Physicist) attending as the guest of honour.
 

In my opinion the real genetics is in rural India, as many families with multiple generations have rare genetic disorders. For example, I saw a three generation family with autosomal dominant condition of Hereditary Multiple Exostoses (LG syndrome) with 17 affected children and grandchildren. We are now leading molecular studies on the mutation, in this probably new ISOLATE family, where the oldest affected living person is 85 years old.
 


 

 

Further Reading

Prof. Victor A. Mckusick. Online Mendelian Inheritance in Man - http://www.ncbi.nlm.nih.gov/omim

Dr. D.S. Krishna Murthy, MSc PhD, FCCMG, is a Visiting scientist at the Rural Center for Genome Foundation at the Sri Devaraj Urs University of Higher Education and Research (SDUAHER) in Kolar, Karnataka, India. His email is:  dskmurthy50@gmail.com .