Center for Human Genetics - Columbia University Medical Center

Researcher Biographical Page
Last name	Allikmets

First name	Rando

Credentials	PhD

Title	Acquavella Associate Professor of Ophthalmology (in Ophthalmology and Pathology & Cell Biology) Research Director, Dept of Ophthalmology and Harkness Eye Institute

Location of your lab	Eye Institute Research 7^th Floor, Room 715 160 Fort Washington Avenue New York, NY 10032

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Research Theme and Projects in your lab:	Genetic cause of Stargardt macular dystrophy and other retinal diseases ABC transporter superfamily Association analysis of genetic variation in candidate genes for complex disorders e.g., age-related macular generation Development of microarray based screening technologies New approaches for ABC gene therapy.

If you see patients, in which clinic do you attend	Patients are enrolled into our studies at the Harkness Eye Institute

Education and Training Programs to which you belong	Integrated Program Vision Science Training Grant

Bullet List of Genetic Diseases on which you work:	Age-related macular degeneration Stargardt diseases Retinitis pigmentosa Leber congenital amaurosis Other retinal diseases

Six Selected Publications (2003-present):	Lamba, J.K., Adachi, M., Sun, D., Tammur, J., Schuetz, E.G., Allikmets, R., and Schuetz, J. Nonsense mediated decay down-regulates conserved alternatively spliced ABCC4 transcript bearing nonsense codons. Hum. Mol. Genet.12:99-109, 2003. Jaakson, K., Zernant, J., Külm, M., Hutchinson, A.,Tonisson, N, Hawlina, M., Ravnic-Glavac, M., Glavac, D., Meltzer, M., Caruso, R., Testa, F., Maugeri, A., Hoyng, C.B., Gouras, P., Simonelli, F., Lewis, R.A. Lupski, J.R., Cremers, F.P.M., and Allikmets, R. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum. Mutat., 22:395-403, 2003. Kim, S.R., Fishkin, N., Kong, J., Nakanishi, K., Allikmets, R., and Sparrow, J.R. Rpe65 Leu450Met variant is associated with reduced levels of the retinal pigment epithelium lipofuscin fluorophores A2E and iso-A2E. Proc. Natl. Acad. Sci. USA, 101:11668-11672, 2004. Hageman, G.S., Anderson, D.H., Johnson, L.V., Hancox, L.S., Taiber, A.J., Hardisty, L.I., Hageman, J.L., Stockman, H.A., Borchardt, J.D., Gehrs, K.M., Smith, R.J., Silvestri, G., Russell, S.R., Klaver, C.C.W., Barbazetto, I., Chang, S., Yannuzzi, L.A., Barile, G.R., Merriam, J.C., Smith, R.T., Olsh, A.K., Bergeron, J., Zernant, J., Merriam, J.E., Gold, B., Dean, M. and Allikmets R. A common haplotype in the complement regulatory gene, factor H (HF1/CFH), predisposes individuals to age-related macular degeneration. Proc. Natl. Acad. Sci. USA, 102:7227-7232, 2005. Maiti, P., Kong, J., Kim, S.R., Sparrow, J.R., Allikmets, R., and Rando, R.R. Small Molecule RPE65 Antagonists Limit the Visual Cycle and Prevent Lipofuscin Formation. Biochemistry, 45:852-860, 2006. Gold, B., Merriam, J.E., Zernant, J., Hancox, L.S., Taiber, A.J., Gehrs, K.M., Cramer, K., Neel, J., Bergeron, J., Barile, G.R., Smith, R.T., the AMD Genetics Clinical Study Group, Hageman, G.S., Dean, M. and Allikmets R. Variation in the Factor B (BF) and Complement Component 2 (C2) Genes is Associated with Age-related Macular Degeneration. Nature Genet., 38:458-462, 2006

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Researcher Biographical Page
Last name	Frucht

First name	Harold

Credentials	MD

Title	Associate Professor of Clinical Medicine

Location of your lab

Location of your clinic	Herbert Irving (Atchley) Pavilion, Suite #301

URL of your lab home page:	http://www.columbiasurgery.org/pat/pancreas/prevention.html http://www.cumc.columbia.edu/dept/gi/colonca.html

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Research Theme and Projects in your lab:	Syndromic Gastrointestinal Cancers: Genetic counseling & testing, risk-stratification, and early detection & prevention of gastrointestinal cancers including colon cancer and pancreas cancer.

If you see patients, in which clinic do you attend	Gastrointestinal High Risk/Genetics/Screening Program Digestive Diseases Division Clinical Office (212) 305-1021 or (212) 305-5333

Education and Training Programs to which you belong	As above

Bullet List of Genetic Diseases on which you work:	- familial polyposis coli (175100, 276300) - familial juvenile polyposis (174900) - hereditary non-polyposis colon cancer (120435, 609310, 158320, 114400, 13725) - familial pancreatic cancer (260350) - familial atypical multiple melanoma mole syndrome (606719) - peutz-jeghers syndrome (175200) - hereditary pancreatitis (167800) - BRCA syndrome (113705, 600185) - multiple endocrine neoplasia type I syndrome (131100)

Six Selected Publications (2003-present):	Calvert P, Frucht H. The genetics of colorectal cancer. Annals of Internal Medicine. 2002; 137:603-612. Frucht H, Stevens PD, Fogelman DR, Verna EC, Chen J, Chabot JA, Fine RL. Advances in the Genetic Screening, Work-up, and Treatment of Pancreatic Cancer. Current Treatment Options in Gastroenterology. 2004; 7:343-354.

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Researcher Biographical Page
Last name	Gharavi

First name	Ali

Credentials	1986: B.S. Georgetown Univ. 1990: M.D. George Washington Univ. 1990-93: Intern and Resident in Medicine, Mount Sinai Medical CenterNew York, NY 1996-98: Fellow in Nephrology, Mount Sinai Medical Center, NY 1997-2002 : Yale University, Post Doc in Genetics

Title	Assistant Professor of Medicine

Location of your lab	P&S 10-432

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Research Theme and Projects in your lab:	End-stage renal disease requiring dialysis therapy affects one in a seven hundred Americans. The molecular bases of renal failure are largely unknown but multiple lines of evidence suggest that genetic susceptibility is an important causative factor. We are interested in several disorders that result in renal failure: 1- IgA nephropathy (IgAN, OMIM #161950) is the most common form of glomerulonephritis and a significant cause of renal failure worldwide. This trait has complex determination. Starting with a collection of kindreds with familial disease, we have mapped the first locus for IgA nephropathy to chromosome 6q22-23 and our efforts are now geared towards identifying the underlying genes using approaches such as disequilibrium mapping and sequencing of positional candidates. In addition, mapping projects in newer families and case-control cohort recruited worldwide are expected to identify additional loci and variants responsible for IgA nephropathy. 2- Nonsyndromic defects in the urinary tract are the most common cause of end-stage renal failure in children. Renal agenesis (OMIM %191830) is one of the most severe forms of malformations and is also commonly accompanied by anatomic abnormalities in the lower urinary tract such as ureteropelvic junction (UPJ) obstruction or vesicoureteral reflux (VUR %193000). The genetic basis of these disorders is not known. We are studying cohorts segregating renal agenesis or VUR in order to identify genes and variants predisposing to these traits.

If you see patients, in which clinic do you attend	Nephrology 212-305-0320

Education and Training Programs to which you belong	Cardiology training program, Columbia University Nephrology Training program (Mt Sinai School of Medicine)

Bullet List of Genetic Diseases on which you work:	IgA nephropathy HIV nephropathy Vesicoureteral Reflux Renal agenesis and Renal Developmental Defects

Six Selected Publications (2003-present):	1. Gharavi AG, Ahmad T, Wong RD, Hooshyar R, Vaughn J, Oller S, Frankel RZ , Bruggeman LA , D'Agati VD , Klotman PE , and Lifton RP. Mapping a Locus (HIVAN1) for Susceptibility to HIV-1 Associated Nephropathy to Mouse Chromosome 3. Proc Natl Acad Sci U S A. 2004, 101:2488-2493 2. Davila S., Furu L., Gharavi AG, Tian X., Onoe T., Qian Q, Li A., Kamath PS, King BF, Azurmendi PJ, Tahvanainen, Kääriäinen H, Höckerstedt K, Devuyst O, Pirson Y, Martin R, Lifton R, Tahvanainen E, Torres V, Somlo S. Mutations in SEC63 cause autosomal dominant polycystic liver disease and implicate posttranslational modification pathways in epithelial cyst formation. Nat. Genetics 2004, 36:575-7 3. Zheng Z, Ott-Schmitt K, Chua S., Foster K A., Frankel R Z., Barasch J, Pavlidis P., D’ Agati VD, Gharavi AG. A Mendelian Locus on Chromosome 16 Determines Susceptibility to Doxorubicin Nephropathy In The Mouse. Proc Natl Acad Sci U S A. 2005;102:2502-2507 4. Sanna-Cherchi S, Reese A, Hensle T, Caridi G, Izzi C, KimYY, Murer L, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG. Familial Vesicoureteral Reflux: Testing Replication of Linkage in Seven New Multigenerational Kindreds. J Am Soc Nephrol 2005;16:1781-7 5. C Izzi, S Sanna-Cherchi, E Prati, D Beller , A Remedi , R Tardanic , M Foramitt , S Guerini, B Viol , G Brunori, E Movilli, I Beerman, R Lifton, P Paterlini, C Della Torre, L Leone, Gharavi AG, Scolari F. Familial Aggregation of Primary Glomerulonephritis in an Italian Population Isolate: the Valtrompia Study. Kidney International 2006 69:1033-40

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Researcher Biographical Page
Last name	Greenberg

First name	David A.

Credentials	Ph.D., Physiology and Biochemistry, Washington University, St. Louis, MO, 1976

Title	Director, Division of Statistical Genetics; Professor, Departments of Biostatistics and Psychiatry;

Location of your lab	(Office) 722 West 168^th Street, Room 623

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URL of your lab home page:	“Division of Statistical Genetics” Web page is currently being developed.

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Research Theme and Projects in your lab:	“A Multicenter Study of Idiopathic Generalized Epilepsy” This grant has four goals: 1) Determine the sequence differences in the malic enzyme 2 gene (ME2) that cause the association of ME2 with idiopathic generalized epilepsy. 2) Locate the genes within the areas of high linkage on chromosomes 5 and 8. 3) Determine if the ME2 and BRD2 genes, both of which are associated with JME, interact. 4) Determine whether the associations we have identified in the Caucasian population can also be found in the African American and Hispanic populations. The last aim is critical for understanding how the causes of IGE may differ in different ethnic groups. Principal Investigator: David A. Greenberg .Agency: NIH-NINDS Type: RO1 NS027941. Years 17 – 21. Period: 8/15/2006 – 1/31/2011 “Two-Locus Models, Heterogeneity and Diabetes” The major goal of this project is to use computer simulation to investigate problems in the analysis of human genetic data and develop new analysis methods. Principal Investigator: David A. Greenberg Agency: NIH-NIDDK Type RO1 DK031775, Years 20 – 24. Period: April 1, 2003 – February 28, 2007 “Search for Genes Influencing Childhood Absence Epilepsy” The major goal of this project is performing genome screens on childhood absence families. Principal Investigator: Martina Durner Agency: NIH –NINDS Type: RO1 NS037466, Years 1-5. Period: June 1, 2006 to May 31, 2011. “Genetics of Rolandic Epilepsy” The goal is to find the susceptibility genes underlying rolandic epilepsy and its component EEG and neurodevelopmental traits. Principal Investigator – Deb Pal, M.D. Agency:NIH-NINDS Type: RO1 NS047530-01 Period: January 15, 2005 to January 14, 2009 “Mapping Autoimmune Diabetes and Thyroiditis Genes” The goal is to determine genes common to expression of Type 1 Diabetes and Autoimmune Thyroid Disease. Subcontract from University of Cincinnati, Principal Investigator – David A. Greenberg, Ph.D. Agency NIH Type: DK067555-01A1 Period: January 31, 2005 to January 30, 2009 “Schizophrenia Premorbid Endophenotype” The major goal of this project is to investigate the inheritance of schizophrenia Subcontract from Mt. Sinai Medical Center, .Principal Investigator – David A. Greenberg, Ph.D. Agency NIH/NIMH – Type: RO1 MH066105 Period: March 1, 2006 – February 28, 2009

If you see patients, in which clinic do you attend

Education and Training Programs to which you belong	Co-Principal Investigator on “Genetic Analysis: Psychiatric and Other Complex Diseases,” The Genetics of Complex Disorders (GCD) training program. NIMH T32 Training Grant, 2002–2007 (renewal submitted). Co-director of Division of Statistical Genetics, in Dept. of Biostatistics, School of Public Health (Dr. David A. Greenberg, Director). Also supervise the new Master’s track in Statistical Genetics, in Dept. of Biostatistics, School of Public Health. Mathematical Genetics Unit in Dept. of Psychiatry (in Dr. Myrna Weissman’s Clinical-Genetic Epidemiology Unit)

Bullet List of Genetic Diseases on which you work:	Idiopathic Generalized Epilepsy Autoimmune Thyroid Disease Schizophrenia Diabetes

Six Selected Publications (2003-present):	Greenberg DA, Durner, M, Keddache, M, Shinnar et al (2000) Reproduceability and Complications in Gene Searches: Linkage, Heterogeneity, Association, and Inheritance in Juvenile Myoclonic Epilepsy. Am J Hum Genet 66:508-516. Durner M, Keddache M, Shinnar SS, Resor SR, Cohen J, Harden C, Moshe S.L, Rosenbaum D, Kang H, Ballaban-Gil K, Hertz S, Labar DR, Luciano D, Wallace S, Yohai D, Klotz I, Dicker E, Greenberg DA (2001): Genome scan of idiopathic Generalized epilepsy: Evidence for major susceptibility gene and modifying genes influencing seizure type. Annals of Neurology.49:328-335. Greenberg DA, Abreu P (2001): Determining trait locus position from multipoint analysis: accuracy and power of three different statistics. Genetic Epidemiology 21:299-314. Pal DK, Evgrafov OV, Tabares P, Zhang F, Durner M, Greenberg DA (2003): BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet. 73:261-70. Heiman G, Hodge S.E, Goroochurn P, Zhang J, Greenberg DA (2004): Effect of population stratification on case- control association studies: I. Elevation in false positive rates and comparison to confounding risk ratios (a simulation study). Hum Hered. 58:30-39. Greenberg DA, Cayanis E, Strug,et al (2005): Malic Enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am J Hum Genet. 76:139–146

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Researcher Biographical Page
Last name	Goldman

First name	Jill

Credentials	MS, MPhil, CGC

Title	Senior Staff Associate, Genetic Counselor

Location of your lab	Sergievsky Center, Taub Institute

Location of your clinic	630 W. 168^th St, 19^th floor

URL of your lab home page:	http://www.alzheimercenter.org

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If you see patients, in which clinic do you attend	We see patients who are at risk for hereditary dementia including, Alzheimer disease, Huntington disease, Frontotemporal dementia, Prion disease. Patients should contact me at 212-305-7382

Education and Training Programs to which you belong

Bullet List of Genetic Diseases on which you work:	Alzheimer disease Frontotemporal dementia and related diseases Prion disease Other hereditary dementias such as CADASIL

Six Selected Publications (2003-present):	Goldman JS, Farmer JM, Wood EM, Johnson JK, Boxer A, Neuhaus J, Lomen-Hoerth C, Wilhelmsen KC, Lee VM, Grossman M, Miller BL. Comparison of family histories in FTLD subtypes and related tauopathies. Neurology. 2005 Dec 13;65(11):1817-9 Goldman JS, Johnson JK, McElligott K, Suchowersky O, Miller BL, Van Deerlin VM. Presenilin 1 Glu318Gly polymorphism: interpret with caution. Arch Neurol. 2005 Oct;62(10):1624-7. Goldman JS, Farmer JM, Van Deerlin VM, Wilhelmsen KC, Miller BL, Grossman M. Frontotemporal dementia: genetics and genetic counseling dilemmas. Neurologist. 2004 Sep;10(5):227-34. Goldman JS, Miller BL, Safar J, de Tourreil S, Martindale JL, Prusiner SB, Geschwind MD. When sporadic disease is not sporadic: the potential for genetic etiology. Arch Neurol. 2004 Feb;61(2):213-6. Goldman JS, Reed B, Gearhart R, Kramer JH, Miller BL. Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation. Int J Geriatr Psychiatry. 2002 Jul;17(7):649-5. Wilhelmsen KC, Forman MS, Rosen HJ, Alving LI, Goldman J, Feiger J, Lee JV, Segall SK, Kramer JH, Lomen-Hoerth C, Rankin KP, Johnson J, Feiler HS, Weiner MW, Lee VM, Trojanowski JQ, Miller BL. 17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions. Arch Neurol. 2004 Mar;61(3):398-406.

Center for Human Genetics Research Bios