Synaptojanin 2 (SYNJ2) Variants And Uses Thereof
AssigneeRegeneron Pharmaceuticals, Inc.
InventorsKavita Praveen, Giovanni Coppola, Manuel Allen Revez Ferreira, Lauren Gurski, Aris Baras, Meghan Drummond Samuelson, Goncalo Abecasis
Life of this patent
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Abstract
The present disclosure provides methods of treating patients having hearing loss, methods of identifying subjects having an increased risk of developing hearing loss, methods of detecting human Synaptojanin-2 (SYNJ2) variant nucleic acid molecules and variant polypeptides, and SYNJ2 variant nucleic acid molecules and variant polypeptides.
Claims40
A method of identifying a human subject having an increased risk for developing hearing loss, wherein the method comprises:
- determining or having determined the presence or absence of an Synaptojanin-2 (SYNJ2) rs2256014 predicted loss-of-function variant nucleic acid molecule in a biological sample obtained from the subject;
- wherein:
- when the human subject is SYNJ2 reference, then the human subject does not have an increased risk for developing hearing loss;
- and
- when the human subject is heterozygous or homozygous for SYNJ2 rs2256014, then the human subject has an increased risk for developing hearing loss.
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A method of treating a patient with a therapeutic agent that treats or inhibits hearing loss, wherein the patient is suffering from hearing loss, the method comprising the steps of:
- determining whether the patient has a Synaptojanin-2 (SYNJ2) rs2256014 predicted loss-of-function variant nucleic acid molecule by:
- obtaining or having obtained a biological sample from the patient;
- and
- performing or having performed a genotyping assay on the biological sample to determine if the patient has a genotype comprising SYNJ2 rs2256014;
- and
- when the patient is SYNJ2 reference, then administering or continuing to administer to the patient the therapeutic agent that treats or inhibits hearing loss in a standard dosage amount;
- and
- when the patient is heterozygous or homozygous for SYNJ2 rs2256014, then administering or continuing to administer to the patient the therapeutic agent that treats or inhibits hearing loss in an amount that is the same as or greater than a standard dosage amount;
- wherein the presence of a genotype having SYNJ2 rs2256014 indicates the patient has an increased risk of developing hearing loss.
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An isolated alteration-specific probe or alteration-specific primer comprising at least about 15 nucleotides, wherein the alteration-specific probe or alteration-specific primer comprises a nucleotide sequence which is complementary to a portion pf human Synaptojanin-2 (SYNJ2) rs2256014 variant nucleic acid molecule, wherein the portion comprises a position corresponding to position 99,219 according to SEQ ID NO:3, or the complement thereof.
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A molecular complex comprising an alteration-specific primer or an alteration-specific probe hybridized to a SYNJ2 rs2256014 genomic nucleic acid molecule, wherein the alteration-specific primer or the alteration-specific probe is hybridized to thymine at a position corresponding to position 99,219 according to SEQ ID NO:3, or the complement thereof.
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Dependencies are inferred from the claim text.