The Developmental Basis of Human Disease

Course Number: 
MCB 522
Course Type: 
Currently Offered: 
Meeting Time: 
Tu & Th, 1:30-3P
Fred Hutch, Weintraub Bldg, Rm. B1-076
Instructor (MCB Faculty): 
Moens, Cecilia
Class Size: 
Course Description: 

This course is intended to introduce graduate students to concepts in developmental biology that are made particularly relevant by their recent implication in human genetic disorders. As human geneticists use new sequencing technologies to discover the mutations underlying human genetic diseases – from autism to dysmorphologies to cancer predisposition – they are frequently identifying genes that are already familiar to developmental biologists. Decades of genetic screening in model organisms for ostensibly unrelated developmental phenotypes – the orientation of hairs on a fly wing, for example, or the formation of the worm vulva – has identified genes and pathways controlling virtually every aspect of animal development. The developmental biology literature is a rich resource for clinicians who seek to understand the underpinnings of their patient’s disorders, to identify candidate interacting genes and in some cases, to discover therapies. Conversely, the burgeoning number of genes that are being identified based on human disease phenotypes is informing developmental biologists of unanticipated genetic connections and suggesting hypotheses about the genetic control of development that can be tested in model organisms.

Learning Objectives: 

This ten-week course will explore the intimate relationship between human genetic disease and developmental biology. Each week we will choose a different human disorder whose genetic basis has been recently discovered, and we will discuss how the same genes regulate key processes in animal development. The second meeting of each week will be an opportunity for students to present recent papers from the literature relating to these developmental processes. We will end each week by formulating hypotheses about how mutations in these developmental control genes may cause the human disease in which they have been implicated.

Background in cell and developmental biology suggested.
Required Text: 
Students will be required to read and present papers from the current developmental biology literature. The papers that we will discuss are fully expected to change from year to year.
Course requirements, examinations and grading: 

Students will be graded on a combination of class participation (10%), oral presentations of papers from the current literature (45%), and a final paper in which they choose a human disorder whose genetic basis has recently been identified, and discuss the underlying developmental mechanisms (45%).

Class web site:

Sample Syllabus:









Principles of Animal Development


Introduction to Current Approaches in Human Genetic Analysis


Polydactyly and Achondroplasia: defects in limb development


Student presentations


Spina Bifida and Cranioarachnoschisis: defects in epithelial morphogenesis.


Student presentations


Joubert and Kartagener Syndromes: defects in cilia formation and function


Student presentations


Lissencephaly: defects in cortical layering.


Student presentations


Alagile Syndrome: defects in cell fate specification during organogenesis


Student presentations


Klinefelter’s syndrome: disorders of sex development


Student presentations


Autism: complex genetics involving the Wnt pathway


Student presentations


Cancer Genetics I: defects in growth control


Student presentations


Cancer Genetics II: Metastasis: defects in cell polarity and migration


Student presentations


Areas of Interest: 
Developmental Biology, Stem Cells & Aging
Keystone Area: 
Developmental Biology, Stem Cells & Aging