The Diagnosis and Treatment of Rare Diseases Is Our Specialty
Clinical Genetics
The Division of Clinical Genetics provides excellent, comprehensive care to newborns, children, adults, and pregnant women with known or suspected genetic disorders. Our services include:
- Clinical evaluation and risk assessment, genetic counseling, and comprehensive genomic testing
- Second-opinion services reassessing previously performed genomic tests to evaluate patients with undiagnosed disorders
- Ongoing care and care coordination for patients with genetic conditions
- Identification of research studies through which patients may gain a better understanding of their conditions or access new treatments
- Access to reproductive options to enable patients who are planning their families to have healthy children
Division members provide genetic expertise to and collaborate with several multidisciplinary programs at Columbia University Irving Medical Center (CUIMC), including:
- Craniofacial Program
- Vascular Anomalies Program
- Lysosomal Storage Disorders Program
- Centers of excellence for neurofibromatosis, von Hippel-Lindau disease, and Marfan syndrome
- Cardiology programs for patients with pediatric cardiomyopathies, pulmonary hypertension, congenital heart disease, and other cardiac conditions
- Cancer genetics counseling for individuals with a family or personal history of cancer
- Precision in Pediatric Sequencing (PIPseq) program for children with cancer
- National Organization of Rare Disorders: Care Center of Excellence
Within our division, the DISCOVER and TREATMENT programs provide comprehensive diagnostic services and cutting-edge treatment for infants and children with rare and undiagnosed diseases. The DISCOVER program (Diagnosis Initiative: Seeking Care and Opportunities with Vision for Exploration and Research) strives to make a diagnosis of rare diseases and complex conditions more quickly, while the newly established TREATMENT program works to determine the most effective therapy for those with genetic diagnoses including clinical trials for N of 1 custom therapies, gene therapy, and RNA therapy. Through the Inherited Metabolic Disease Program, specialists focus on genetic metabolic diseases, many of which are detected through state-mandated newborn screening programs.
Research
The division collaborates on a number of ongoing and diverse precision medicine initiatives at CUIMC across the range of genetic conditions. Our research portfolio extends from basic genetic discoveries and understanding genetic mechanisms to implementation science and clinical trials of new treatments including gene therapy and N of 1 treatments with custom design antisense oligonucleotides. We work collaboratively with many groups around the U.S. and around the world to expand newborn screening for genetic disorders, facilitate genetic and genomic testing on scale, identify novel genes for diseases, describe the natural history of rare genetic conditions, and develop new treatments and supports for patients with rare genetic diseases.
Education
Fellowship Program
Through our two-year program in medical genetics, fellows receive training in pediatric genetics, biochemical genetics, cytogenetics, molecular genetics, and cancer genetics, and upon graduation are capable of diagnosing and caring for patients with a wide range of genetic problems. We also have a combined pediatrics/genetics residency program in which, over the course of four years, residents are trained and board eligible for both specialties. Residents rotate through pediatric genetics, biochemical genetics, cytogenetics, molecular genetics, and cancer genetics. Fellows dedicate the remaining six months to research. Training includes intensive didactic lectures taught by faculty in the division and faculty from various departments at CUIMC. Fellows actively participate in weekly divisional conferences and present and discuss complex cases in their care.
Student, Resident, and Fellow Rotations in Clinical Genetics
Rotations in clinical genetics are available to genetic counseling students, medical students, and pediatric residents as well as trainees in other departments at CUIMC.
New Appointments
- Naomi Yachelevich, MD - Assistant Professor
- Jose Andres Morales Corado, MD - Assistant Professor
- Genetic Counselors
- Nora Nesheiwat
- Charlotte Close
- Aisha Rekab
- Molly Fitzpatrick
- Yakira Begun
Retirements
- Kwame Anyane-Yeboa, MD
Selected Publications
Ganapathi M, Buchovecky CM, Cristo F, Ahimaz P, Ruzal-Shapiro C, Wou K, Inácio JM, Iglesias A, Belo JA, Jobanputra V. A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome. Cold Spring Harb Mol Case Stud. 2022;8(7):a006248. doi: 10.1101/mcs.a006248. PMID: 36316122.
Do Rosario MC, Bey GR, Nmezi B, Liu F, Oranburg T, Cohen ASA, Coffman KA, Brown MR, Kiselyov K, Waisfisz Q, Flohil MT, Siddiqui S, Rosenfeld JA, Iglesias A, Girisha KM, Wolf NI, Padiath QS, Shukla A. Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy. Brain. 2022;145(12):4202–4209. doi: 10.1093/brain/awac295. PMID: 35953447.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. A homozygous splice variant in ATP5PO disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022;45(5):996–1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. PMID: 35621276.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network, Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2022;43(2):266–282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. PMID: 34859529.
Ahimaz P, Kramer T, Swaroop P, Mitchell M, Hernan R, Anyane-Yeboa W, Pereira EM. Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers-Danlos syndrome. Am J Med Genet A. 2022;188(11):3172–3183.
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie R, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar A, Cobb M, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pena HP, Rizvi SRA, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Rare, pathogenic variants in WNK3 cause X-linked intellectual disability. Genet Med. 2022;24(9):1941–1951.
Pereira, EM. In Brief: Gene therapy update. Pediatr Rev. 2022;43(9):536–537.
Dharmadhikari AV, Pereira EM, Andrews CC, Macera M, Harkavy N, Wapner R, Jobanputra V, Levy B, Ganapathi M, Liao J. Case Report: Prenatal identification of a de novo mosaic neocentric marker resulting in 13q31.1→qter tetrasomy in a mildly affected girl. Front Genet. 2022;13:906077.
Barua S, Berger S, Pereira EM, Jobanputra, V. Expanding the phenotype of ATPGAP1 deficiency. Cold Spring Harb Mol Case Stud. 2022;8(4):a006195.
Highlights
GUARDIAN Study Expands Newborn Screening for Rare Diseases
Genomic Uniform screening Against Rare Disease In All Newborns (GUARDIAN) study is a pilot study of genome sequencing to expand newborn screening to add hundreds of additional treatable pediatric serious conditions to traditional newborn screening in New York City.
Columbia Pediatrics Establishes Lysosomal Storage Disease Program
Lysosomal storage disorders (LSDs) often require active management and ongoing care, so it’s critical to work with experts who understand these conditions and how to treat them. The ColumbiaDoctors Lysosomal Storage Disease Program, established in 2022 and led by Gustavo Maegawa, MD, provides exceptional comprehensive care to both children and adults with LSDs.