Rena Falk, MD
Medical Director, Clinical Cytogenetics Laboratory
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Academic Appointments
| Clinical Professor, Pediatrics |
Awards and Activities
| NIH Expert Panel | 2001 |
| American Society of Human Genetics | 1974 |
| American College of Medical Genetics | 1993 |
| European Society of Human Genetics | 2004 |
Research Focus
Delineation of syndromes; phenotype-karyotype correlations in chromosomal disorders; gene linkage and mapping; hereditary deafness; neurofibromatosis; clinical application of new cytogenetic techniques; risk, ethical issues and improvements in prenatal diagnosis; intrauterine treatment of genetic diseases; 2q37 deletion syndrome
Research Contributions
Contributed to the understanding of several forms of hereditary deafness; described emerging phenotype of individuals with chromosome 2q37 deletion syndrome; collaborated on a project which identified the gene responsible for Van der Woude syndrome; participated in research validating new method of prenatal screening for Down syndrome, other disorders.
Current investigations include:
Clinical research focused on:
1) the behavioral and cognitive function of children with deletion 2q37;
2) survey of molecular genetic screening practices in US semen banks.
Selected Publications
- Conway RL, Falk RE: A patient with TCIRG1-related infantile osteopetrosis presenting with congenital anomalies: chance association or a case for pleiotropy?. Am. J. Med. Genet. A, 143A(24): 3140-3, 2007
- Falk RE, Casas KA: Chromosome 2q37 deletion: clinical and molecular aspects. American journal of medical genetics. Part C, Seminars in medical genetics, 145C(4): 357-71, 2007
- Trzupek KM, Falk RE, Demer JL, Weleber RG: Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype. Am. J. Med. Genet. A, 143A(11): 1218-22, 2007
- Miller MS, Rao PN, Dudovitz RN, Falk RE: Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients. Am. J. Med. Genet. A, 139A(2): 141-5, 2005
- Casas KA, Mononen TK, Mikail CN, Hassed SJ, Li S, Mulvihill JJ, Lin HJ, Falk RE: Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am. J. Med. Genet. A, 130A(4): 331-9, 2004
- Bergwerk KL, Rabinowitz YS, Falk RE: Quality of life related to visual function in three young adults with mucopolysaccharidoses. ScientificWorldJournal, 3: 922-9, 2003
