Soma Das, PhD

  • Professor of Human Genetics
    Committee on Clinical Pharmacology and Pharmacogenomics
  • Research and Scholarly Interests: Ataxia, Exome sequencing, Molecular Diagnostics, Mutation detection, Neurogenetic disorders
  • Websites: Research Network Profile
  • Contact: sdas@uchicago.edu
  • Graduate Program: Human Genetics

The work in our laboratory focuses on the molecular diagnosis of human genetic disease. Our interest is in translating knowledge obtained from basic research studies to the diagnostic arena, and in developing tools and implementing new technology to improve the diagnosis of human genetic disease.



My research interests are translational in nature and are an extension of our diagnostic activities. My main area of interest is in neurodevelopmental disorders, in understanding the underlying molecular basis of these disorders and in genotype-phenotype correlation. By uncovering the molecular defects in many of these disorders, we have been able to broaden the phenotype associated with many neurodevelopmental genes. We work on disorders ranging from rare orphan genetic disorders such as Rett and Angelman syndrome to more common disorders such as ataxia. We use high throughput sequencing techniques, such as exome sequencing, for the identification of disease causing variants. On a more long-term basis we are interested in assessing the diagnostic and clinical utility of high throughput technologies such as whole genome sequencing and transcriptome sequencing in molecular diagnostics.

University of California San Francisco
USA
Postdoctoral Fellow - Clinical Molecular Genetics
1995

University College London
UK
Ph.D. - Molecular Biology
1991

University of Glasgow
UK
M.Sc. - Medical Genetics
1987

University of Ife
Nigeria
B.Sc. - Health Sciences
1985

Sequential tumor molecular profiling identifies likely germline variants.
Sequential tumor molecular profiling identifies likely germline variants. Genet Med. 2024 Mar; 26(3):101037.
PMID: 38054407

Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma. JAMA Netw Open. 2023 08 01; 6(8):e2327351.
PMID: 37556141

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 Dec; 25(12):100947.
PMID: 37534744

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies. Blood Adv. 2023 02 28; 7(4):549-554.
PMID: 36001442

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome. Neurology. 2023 01 31; 100(5):e543-e554.
PMID: 36289003

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Saygin C, Roloff GW, Hahn CN, Chhetri R, Gill SI, Elmariah H, Talati C, Nunley E, Gao G, Kim A, Bishop MR, Kosuri S, Das S, Singhal D, Venugopal P, Homan CC, Brown AL, Scott HS, Hiwase DK, Godley LA. Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies. Blood Adv. 2022 Aug 24.
PMID: 36001442

Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma.
Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma. Hematol Oncol. 2022 Aug; 40(3):475-478.
PMID: 35613340

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders. Hum Mutat. 2022 07; 43(7):950-962.
PMID: 35419889

Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods. Hum Mutat. 2022 08; 43(8):1097-1113.
PMID: 34837432

Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly.
Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly. Neurology. 2021 Sep 20; 97(12):e1253-e1256.
PMID: 34016710

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