New Developments in Screening for Inborn Errors of Metabolism

I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control. I have applied the principles of mass screening to examine the feasibility of testing for other inborn errors and, on this basis, feel that galactosemia will soon next join with PKU. Mass screening for other aminoacidopathies will await more refined testing techniques and a definition of their incidence and mode of therapy. In the meantime, accumulated experience thus far mandates the establishment of specialized lab facilities and multidisciplinary teams; these will be necessary to effect optimal evaluation and treatment of patients found to be positive by these screening techniques

Population Screening for Genetic Disease

Recent advances in genetics and laboratory techniques have raised difficult issues for both the medical and lay communities. The desirability of initiating population screening programs is an example of one such issue that has engendered considerable confusion concerning is intent – so much so that the National Academy of Sciences recently reviewed this subject and in 1975 published a book entitled, Genetic Screening – Programs, Principles and Research. This presentation will describe the four major forms of population screening for genetic disease and, from the Virginia experience with some of them, demonstrate their strengths and shortcomings

Fetal Abnormalities of Metabolic Origin

The subject of my discussion is prenatal diagnosis of genetic disorders of a metabolic rather than a chromosomal nature. Whereas the chromosomal defects are the result of either the transmission of a translocated chromosome from a single parent to its offspring or an error in meiosis or mitosis, almost all metabolic disorders are inherited in an autosomal recessive fashion. Therefore, except in rare instances, the only clue to the possible presence of an inborn error of metabolism (IEM) in the fetus is that a previous child of the parents has had the disorder. This history identifies both mother and father as heterozygotes for the deleterious gene and thus forewarns that each subsequent pregnancy is at a 1:4 risk of yielding the disorder again. By studying the amniotic fluid of the at-risk fetus, it is now possible to determine if the disorder is present, and if so, to prevent its occurrence by therapeutic abortion. My main purpose is first to review the status of the art of amniocentesis and biochemical analysis of the material thus obtained, and then to examine the impact this procedure will have on the incidence and management of the IEM

The Birth of a New Department at MCV/VCU-Human Genetics

In recognition of the central role of genetics in the health professions, the MCV/VCU School of Basic Sciences and Graduate Studies substantially enlarged its commitment to this discipline by creating a new Department of Human Genetics as of September 1, 1975, under the chairmanship of Walter E. Nance, M.D, Ph.D., an internationally renowned medical geneticist. Dr. Nance comes to Richmond from Indianapolis where he was Professor of Medicine and Medical Genetics at the Indiana University School of Medicine. Here at MCV/VCU, Dr. Nance will also have joint appointments in both the Departments of Medicine and Pediatrics

Syndrome Identification [Case Reports]

What’s in a name? This question is often asked of a genetic counselor when a syndrome is newly delineated. The brief case reports that follow demonstrate the importance of establishing precise diagnoses. They also emphasize that many of these syndromes are recognizable only after careful physical examination of the proband and family members, consultation with other subspecialties (for example, neurology, radiology, orthopedics, dentistry, pathology), and a review of the medical literature

A Case of Saethre-Chotzen Syndrome

Saethre-Chotzen syndrome was described independently by the Norwegian psychiatrist, Saethre, and the German psychiatrist, Chotzen, in the 1930s; since that time many cases have been reported, some using the terms acrocephalosyndactyly, type III, and craniooculodental syndrome. Clinically, the syndrome is characterized by premature closure of the cranial sutures, low-set hairline, nasal septum deviation, brachydactyly, and ptosis. It is inherited as an autosomal dominant with complete penetrance and great variability in expression. Because of this variable in expressivity, the syndrome is difficult to diagnose in the less severe form without a positive family history

The Genetic Counseling Program at MCV

The Genetic Counseling Clinic at the Medical College of Virginia, established by Drs. Peter Mamunes and R.B. Young in 1973, has been supported since its inception by a clinical service grant from the National Foundation – March of Dimes; it is one of 83 genetic counseling programs in the United States and one of three in Virginia that receive support from the Foundation. The Clinic provides counseling and diagnostic services for a variety of genetic disease and is the focus of clinical teaching and research activities of the Department of Human Genetics. The Clinic is staffed by member of the Departments of Human Genetics, Obstetrics, and Pediatrics, as well as consultants from many other clinical disciplines

Familial Occurrence of Pierre Robin Anomalad

We have presented a family in which three children (1 male and 2 females) who had two different fathers were affected with the Pierre Robin anomalad. The mother exhibits some of the characteristic stigmata of this syndrome which strongly suggests that an autosomal dominant from of the Pierre Robin anomalad exists with variable expressivity

A New Familial Chondrodystrophy Simulating Parastremmatic Dwarfism

Recent developments in tissue culture and enzyme analysis have made it possible to classify more precisely some of the skeletal dysplasias and to understand their pathophysiology; thus almost all seven clinical types of mucopolysaccharidoses are due to separate single enzyme deficiencies – one type, the Sanfilippo syndrome, has three subtypes, each with a different enzyme deficiency. The majority of the skeletal dysplasias have no definable biochemical abnormality and are classified on the basis of clinical and radiological findings and the mode of inheritance. The purpose of this report is to present a family with an apparently new type of chondrodystrophy

Access to Life-Saving Medicines and Intellectual Property Rights: An Ethical Assessment

© 2011 Cambridge University Press. Online edition of the journal is available at http://journals.cambridge.org/action/displayJournal?jid=CQHDying before one’s time has been a prominent theme in classic literature and poetry. Catherine Linton’s youthful death in Wuthering Heights leaves behind a bereft Heathcliff and generations of mourning readers. The author herself, Emily Brontë, died young from tuberculosis. John Keats’ Ode on Melancholy captures the transitory beauty of 19th century human lives too often ravished by early death. Keats also died of tuberculosis, aged 25. “The bloom, whose petals nipped before they blew, died on the promise of the fruit” is how Percy Bysshe Shelley expressed his grief over Keats’ death. Emily Dickinson wrote So Has a Daisy Vanished, being driven into depression by the early loss of loved ones from typhoid and tuberculosis