Dr. Paduch is an associate professor of Urology and Reproductive Medicine, associate director of the fellowship program in andrology, and the director of sexual health and medicine program. His time is divided between clinical duties and overseeing research activities within the laboratory. He closely collaborates with Dr. Schlegel and other members of the center. He has been on the forefront of clinical and translational research on testosterone deficiency in adolescents with Klinefelter syndrome. His research has led to numerous invitations as a speaker at support meetings and conferences for patients and parents. He attends 2 to 3 conferences each year for the general public and patients with Klinefelter syndrome, in order to share new developments in clinical medicine and to deliver the results of translational research to families of children and adolescents with Klinefelter syndrome and other chromosomal abnormalities. Dr. Paduch also created a series of educational lectures for urology fellows that are attended by fellows from other institutions’ fellowship programs. Each year, through weekly lectures observed over 4 months, fellows learn about the genetics of male reproduction, reproductive endocrinology, research planning and development, statistical analysis and ethical considerations in reproductive medicine. He has been a co-chair of the annual meeting of American Society of Andrology in 2011. He has excellent organizational skills and clear vision of translational research. He has trained many fellows and summer students in his lab.
A new study from Andrew Grimson's lab, in collaboration with Paula Cohen's lab, has identified a key pathway required for maintenance of sex chromosome telomere integrity. Using conditional knockout mice for Dicer and Dgcr8, two key enzymes required for small RNA processing, Modzelewski et al (2015) show that loss of small RNAs during prophase I leads to telomere fusion events specifically involving the X and Y chromosomes. For further information, see the May edition of Journal of Cell Science
A recent publication by Dabaja et al (2015) has identified key cell:cell interactions that are necessary to establish normal profiles of one key microRNA, miR202-5p, in Sertoli cells. This is the first example of a germ cell regulatory interaction that is necessary for miR expression in neighboring somatic cells of the testis
The lab of Center member John Schimenti recently identified the DNA damage checkpoint pathway responsible for culling oocytes that fail to repair double stranded breaks (DSBs) that occur during meiosis or which arise in a female's oocyte pool (Bolcun-Filas et al, Science 343:533-536, 2014). Using combinations of mutants involved in recombination and DNA damage responses, they found that this pathway involves signaling of checkpoint kinase 2 (CHK2) to both p53 and p63. Disruption of this checkpoint pathway restored fertility to females that normally would be deficient of all oocytes due to defects in meiotic recombination or exposure to radiation. This discovery opens the way to using available CHK2 inhibitors to protect the oocytes of women undergoing cancer therapy that would normally cause infertility.