University System of Maryland

Regeneron Pharmaceuticals, Inc.

Regeneran Pharmaceuticals, Inc.

Cristopher Van Hout

Alan R Shuldiner

Da-Wei Gong

Nehal Gosalia

James A Perry

Lyndon Mitnaul

Giusy Della Gatta

Harikiran Nistala

Matthew Healy

May Montasser

Marja Puurunen

Anthony Marcketta

Alan Shuldiner

The present disclosure provides methods of treating subjects having increased serum glucose level and/or hyperglycemia, methods of identifying subjects having an increased risk of developing increased serum glucose level and/or hyperglycemia, and methods of detecting human Solute Carrier Family 39 Member 5 variant nucleic acid molecules and variant polypeptides.

Treatment of hyperglycemia with solute carrier family 39 member 5 (SLC39A5) inhibitors

The present disclosure provides methods of treating patients having decreased bone mineral density, methods of identifying subjects having increased risk of developing decreased bone mineral density, methods of detecting human Zinc And Ring Finger 3 (ZNRF3) variant nucleic acid molecules and variant polypeptides, and ZNRF3 variant nucleic acid molecules and variant polypeptides.

Treatment of decreased bone mineral density with zinc and ring finger 3 (ZNRF3) inhibitors

The present disclosure provides methods of treating subjects having increased lipid levels, methods of identifying subjects having an increased risk of developing an increased lipid level, methods of detecting human Sterol Regulatory Element Binding Transcription Factor 1 (SREBF1) variant nucleic acid molecules and variant polypeptides, and SREBF1 variant nucleic acid molecules and variant polypeptides.

Treatment of increased lipid levels with sterol regulatory element binding transcription factor 1 (SREBF1) inhibitors

The present disclosure provides methods of treating subjects having increased lipid levels and/or increased triglyceride levels, methods of identifying subjects having an increased risk of developing an increased lipid level and/or increased triglyceride level, methods of detecting human Sterol Regulatory Element Binding Protein Cleavage-Activating Protein (SCAP) variant nucleic acid molecules and variant polypeptides, and SCAP variant nucleic acid molecules and variant polypeptides.

Treatment of increased lipid levels with sterol regulatory element binding protein cleavage-activating protein (SCAP) inhibitors

Variant B4GALT1 genomic, mRNA, and cDNA nucleic acid molecules, and polypeptides, methods of detecting the presence of these molecules, methods of modulating endogenous B4GALT1 genomic, mRNA, and cDNA nucleic acid molecules, and polypeptides, methods of ascertaining the risk of developing cardiovascular conditions by detecting the presence or absence of the variant B4GALT1 genomic, mRNA, and cDNA nucleic acid molecules, and polypeptides, and methods of treating cardiovascular conditions are provided herein.

B4GALT1 cDNA variants and compositions comprising the same

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Tarrytown, NY, United States of America

Cristopher Van Hout