Anne Chun-hui Tsai, M.D., MSc, FAAP, FACMG
Assistant Professor
Tsai.chun-hui@tchden.org
My previous research was to characterize an intestinal growth hormone from a physiological and molecular standpoint. Since my current job is majorly involved in patient care, clinical research areas are my focus. I am interested in Dysmorphology and inborn errors of metabolism. Twinning, craniofacial anomalies, nature courses of a certain chromosomal anomalies and clinical trials in lysosomal storage disease are of special interest to me. Recently, I have been involved in the enzyme replacement therapy for Lysosomal Storage disease, specifically, phase two trial replacement for Pompe’s disease. My current project is an international (5 centers in USA and 2 European centers), collaboration with a pharmaceutical company. I am also collaborating with researchers looking for genes contributing to orofacial clefts with syndromic or non-syndromic nature. Metabolic and genetic characterization for individuals with autism will be my near future project.
Selected Publications
1. Tsai C-H, Hill M, Drucker DJ. Biological Determinants of intestinotrophic
properties of GLP-2 in vivo. Am. J. Physiol. 1997, 273:E77-84.
2. Tsai C-H, Hill, M, Asa SL, Brubaker PL, Drucker DJ. Intestinal growth-promoting properties of glucagon-like peptide-2 in mice. Am. J. Physiol. 1997, 272:G662-668.
3. Tsai CH, Van Dyke DL, Feldman GL. A child with Velo-Cardio-Facial Syndrome and del (4) (q34.2): another critical region associated with a Velocardiofacial Syndrome-like phenotype. American J of Medical Genetics Vol 82, N0.4, p336-339 Feb 12,1999
4. Tsai CH, Roberson J, Teebi A, Teebi Hypertelorism Syndrome: Report of a Family with Previously Unrecognized Findings, AJMG accepted 02-0182
5. Tsai CH, Graw S, Mcgarvran L, "8p23 duplication reconsidered: is it a true variant with no clincal manifestation?" Journal of medical genetics 2002
6. Ongoing project in abstracts:- P Kishnani, T Voit, M Nicolino, A Amalfitano, CH Tsai, G Herman, J Waterson, RC Rogers, H Landy, D Corzo, B Thurberg, S Richards, and YT Chen TREATMENT OF CLASSICAL INFANTILE POMPE DISEASE (CIPD) WITH RECOMBINANT HUMAN ACID ALPHA GLUCOSIDASE (rhGAA): PRELIMINARY DATA FROM A PHASE 2 STUDY. ASHG 2002
- P Kishnani, T Voit, M Nicolino, A Amalfitano, CH Tsai, G Herman, J Waterson, A Rogers, H Landy, G Cox, T Braakman, D Corzo, B Thurberg, S Richards, and YT Chen. RECOMBINANT HUMAN ACID ALPHA GLUCOSIDASE (rhGAA) FOR TREATMENT OF CLASSICAL INFANTILE POMPE DISEASE (CIPD): PRELIMINARY DATA FROM A PHASE 2 STUDY. SSIEM meeting in Dublin, 2002.
- J Levine, S Colan, P Kishnani, A Amalfitano, CH Tsai, G Herman,
J Waterson, R Rogers, F Yong, and YT Chen. Children's Hosp of 1Boston,
MA; 3Denver, CO; 4Columbus, OH; 5Oakland, CA; 2DUMC, Durham, NC; 6Greenwood
Genet Cr, Greenville, SC; 7Genzyme Corp, Cambridge, MA, Cardiac response
in patients with classical infantile Pompe disease (CIPD) receiving
recombinant human acid alpha glucosidase (rh-GAA): Preliminary results
from a Phase 2 study. American Heart Association 2002
