Emilie Korchak from UConn Health was among 10 rare disease researchers awarded a grant at Uplifting Athletes' Young Investigator Draft on Jan. 31 at Lincoln Financial Field
PHILADELPHIA, June 19, 2026 /PRNewswire/ --Â Uplifting Athletes, a nonprofit organization dedicated to serving the rare disease community, and the Foundation for Hao-Fountain Syndrome, a nonprofit dedicated to finding a cure for Hao-Fountain Syndrome, a rare neurodevelopmental disorder caused by variants in the USP7 gene, have announced that they awarded UConn Health's Emilie Korchak a $20,000 research grant as a member of Uplifting Athletes' 2026 Young Investigator Draft Class. The research is advancing understanding of how disease-causing variants in the USP7 gene disrupt the protein's structure and function at the molecular level and is being carried out in the lab of Dr. Irina Bezsonova at UConn Health.
k5:G 4=2DDlQ!#}0x>365565pDD6E#676C6?46Q :5lQs:GpDD6E!=246w@=56C`QmkAmk2 9C67lQ9EEADi^^>>2]AC?6HDH:C6]4@>^>65:2^ahhfdhh^u@F?52E:@?07@C0w2@0u@F?E2:?0$J?5C@>600{@8@]9E>=Q E2C86ElQ03=2?<Q C6=lQ?@7@==@HQmk^2mk^Amk^5:Gm
kAmt>:=:6 H2D 2>@?8 2 8C@FA @7 `_ C6D62C496CD H9@ 6249 C646:G65 2 8C2?E 2E &A=:7E:?8 pE9=6E6DV k2 9C67lQ9EEADi^^6586]AC?6HDH:C6]4@>^4^=:?<^nEl_U2>Aj=l6?U2>Aj@lcf`ddca\`U2>Aj9l`afbef____U2>AjFl9EEADTbpTauTauFA=:7E:?82E9=6E6D]@C8TauJ@F?8\:?G6DE:82E@C\5C27ETabJ:50DA@?D@CDU2>Aj2l*@F?8Zx?G6DE:82E@CZsC27EQ E2C86ElQ03=2?<Q C6=lQ?@7@==@HQm*@F?8 x?G6DE:82E@C sC27Ek^2m @? y2?F2CJ b`[ a_ae[ 2E {:?4@=? u:?2?4:2= u:6=5 :? !9:=256=A9:2[ !6??DJ=G2?:2[ &$p]k^Am
kAm&A=:7E:?8 pE9=6E6D :D 2 ?@?AC@7:E @C82?:K2E:@? E92E :>A24ED E96 C2C6 5:D62D6 4@>>F?:EJ E9C@F89 4@??64E:@?D E@ DA@CED 2?5 6?828:?8 2E9=6E6D E@ 86?6C2E6 2H2C6?6DD[ :?DA:C6 9@A6[ 2?5 C2:D6 7F?5D E@ DFAA@CE E96 2AAC@I:>2E6=J ` :? `_ p>6C:42?D :>A24E65 3J C2C6 5:D62D6D] ~G6C S`]a >:==:@? :? 8C2?ED 92G6 366? 2H2C565 E9C@F89@FE E96 AC@8C2>VD 9:DE@CJ]k^Am
kAm%96 u@F?52E:@? 7@C w2@\u@F?E2:? $J?5C@>6 H2D 7@F?565 3J A2C6?ED @7 27764E65 49:=5C6? :? a_`f] %96:C >:DD:@? :D E@ 4FC6 E96 5:D62D6 3J 7F?5:?8 C6D62C49 2?5 :56?E:7J:?8 >@C6 A2E:6?ED]k^Am
kAm%96 *@F?8 x?G6DE:82E@C sC27E :D :?DA:C65 3J E96 }u{ sC27E 3FE D9:7ED E96 7@4FD 7C@> D6=64E:?8 A@E6?E:2= E2=6?E @? E96 7@@E32== 7:6=5 E@ C64@8?:K:?8 E96 ?6IE 86?6C2E:@? @7 AC@>:D:?8 J@F?8 >65:42= C6D62C496CD :? C2C6 5:D62D6D] xE :D @?6 @7 D6G6C2= D:8?2EFC6 :?:E:2E:G6D 4C62E65 3J &A=:7E:?8 pE9=6E6D E@ C2:D6 2H2C6?6DD 2?5 C6D62C49 7F?5:?8 7@C C2C6 5:D62D6D[ H9:49 27764E 2AAC@I:>2E6=J b_ >:==:@? :?5:G:5F2=D :? E96 &?:E65 $E2E6D]k^Am
kAmQ#6D62C49 7F?5:?8 :D 4C:E:42= E@ 25G2?4:?8 5:D4@G6CJ @7 4C:E:42= EC62E>6?ED 2?5 :>AC@G:?8 @FE4@>6D 7@C A6@A=6 :>A24E65 3J C2C6 5:D62D6D H9@ ?665 :E >@DE] (6 2C6 E9C:==65 E@ A2CE?6C H:E9 `_ A2E:6?E 25G@424J @C82?:K2E:@?D[ 2?5 H6 2C6 @G6C;@J65 E@ 46=63C2E6 E96 a_ae sC27E 4=2DD[Q D2:5 qC6EE qC24<6EE[ !C6D:56?E @7 &A=:7E:?8 pE9=6E6D] Q%96D6 H@C=5 4=2DD C6D62C496CD C6AC6D6?E D@ >F49 AC@>:D6 7@C E@>@CC@H[ 2?5 H6 2C6 9@?@C65 E@ 92G6 E96> @? @FC E62>]Qk^Am
kAmQpD E96 A2C6?E @7 2 49:=5 H:E9 w2@\u@F?E2:? $J?5C@>6[ x <?@H 9@H >F49 72>:=:6D =:<6 @FCD 2C6 4@F?E:?8 @? C6D62C49 =:<6 t>:=:6VD[Q D2:5 q@ q:86=@H[ 492:C>2? 2?5 4@\7@F?56C @7 E96 u@F?52E:@? 7@C w2@\u@F?E2:? $J?5C@>6] Qw6C H@C< :D ECJ:?8 E@ D@=G6 @?6 @7 E96 46?EC2= BF6DE:@?D :? @FC 5:D62D6i H9J DA64:7:4 492?86D :? E96 &$!f 86?6 27764E @FC <:5D E96 H2J E96J 5@] (6VC6 AC@F5 E@ 7F?5 E9:D 8C2?E 2=@?8D:56 &A=:7E:?8 pE9=6E6D[ 2?5 H6VC6 6I4:E65 E@ 92G6 2 C6D62C496C @7 96C 42=:36C H@C<:?8 7@C @FC 4@>>F?:EJ]Qk^Am
kAmvC2?E DF3>:DD:@?D 7@C E96 *@F?8 x?G6DE:82E@C sC27E 2C6 6G2=F2E65 3J 2? 6IA6CE A2?6= @7 D4:6?E:7:4 25G:D@CD AC:@C E@ E96 D6=64E:@? @7 6249 J62CVD sC27E r=2DD] tG6CJ C6D62C496C :D ?@>:?2E65 3J 2 A2E:6?E 25G@424J @C82?:K2E:@? W!p~X C64@8?:K65 3J &A=:7E:?8 pE9=6E6D 2D 2 AC:@C:EJ A2CE?6C[ H:E9 8C2?ED 6BF2==J 4@\7F?565 3J &A=:7E:?8 pE9=6E6D 2?5 E96 ?@>:?2E:?8 !p~] t>:=:6 z@C492< H2D ?@>:?2E65 3J E96 u@F?52E:@? 7@C w2@\u@F?E2:? $J?5C@>6]k^Am
kAmkDEC@?8mp3@FE t>:=:6 z@C492<VD #6D62C49k^DEC@?8mk^Am
kAmt>:=:6 z@C492< :D 2 C6D62C496C :? E96 DECF4EFC2= 3:@=@8J =23 2E &r@?? w62=E9[ H96C6 D96 DEF5:6D 9@H G2C:2?ED :? E96 &$!f 86?6 492?86 E96 H2J E96 &$!f AC@E6:? 7@=5D[ 7F?4E:@?D[ 2?5 3:?5D E@ :ED A2CE?6C AC@E6:?D] &D:?8 }|# DA64EC@D4@AJ 2?5 3:@A9JD:42= 3:?5:?8 2DD2JD[ 96C H@C< 2:>D E@ 6IA=2:? H9J 5:776C6?E &$!f G2C:2?ED =625 E@ w2@\u@F?E2:? $J?5C@>6[ <?@H=6586 E92E :D 6DD6?E:2= E@ 56D:8?:?8 7FEFC6 EC62E>6?ED]k^Am
kAmkDEC@?8mtG6?E s6E2:=Dk^DEC@?8mk^Am
kAm%96 a_ae *@F?8 x?G6DE:82E@C sC27E 2F5:6?46 :?4=F565 DEF56?E\2E9=6E6 =6256CD 7C@> &A=:7E:?8 pE9=6E6DV 4@==68:2E6 492AE6CD 24C@DD E96 4@F?ECJ[ ?@E23=6 AC@76DD:@?2= 2E9=6E6D[ 3:@A92C>246FE:42= C6AC6D6?E2E:G6D[ 962=E942C6 AC@76DD:@?2=D[ 2?5 E9@D6 5:C64E=J :>A24E65 3J C2C6 5:D62D6D 2?5 E96:C 72>:=:6D] %96 *@F?8 x?G6DE:82E@C sC27E H2D 72>:=J\7C:6?5=J[ 2?5 'x! E:4<6ED :?4=F565 2 DA64:2= 369:?5\E96\D46?6D E@FC @7 E96 t28=6DV DE25:F>]k^Am
kAmu@C >@C6 :?7@C>2E:@? 23@FE E96 &A=:7E:?8 pE9=6E6D a_ae *@F?8 x?G6DE:82E@C sC27E[ G:D:E k2 9C67lQ9EEADi^^6586]AC?6HDH:C6]4@>^4^=:?<^nEl_U2>Aj=l6?U2>Aj@lcf`ddca\`U2>Aj9l`b`ahafchbU2>AjFl9EEADTbpTauTau492C:EJ]A=6586:E]@C8Tau*xsa_aeU2>Aj2l9EEADTbpTauTau492C:EJ]A=6586:E]@C8Tau*xsa_aeQ E2C86ElQ03=2?<Q C6=lQ?@7@==@HQm9EEADi^^492C:EJ]A=6586:E]@C8^*xsa_aek^2m]k^Am
kAmkDEC@?8mk6>mp3@FE E96 u@F?52E:@? 7@C w2@\u@F?E2:? $J?5C@>6k^6>mk^DEC@?8mk^Am
kAmw2@\u@F?E2:? $J?5C@>6[ 2=D@ <?@H? 2D &$!f\C6=2E65 ?6FC@56G6=@A>6?E2= 5:D@C56C[ :D 2 C2C6 86?6E:4 4@?5:E:@? 42FD65 3J G2C:2?ED :? E96 &$!f 86?6] xE 27764ED 49:=5C6? 2?5 25F=ED 2?5 :D 2DD@4:2E65 H:E9 56G6=@A>6?E2= 56=2J[ :?E6==64EF2= 5:D23:=:EJ[ 2FE:D>[ 2?5 2 C2?86 @7 @E96C >65:42= 2?5 3692G:@C2= 492==6?86D] %@ 52E6[ E96 u@F?52E:@? 7@C w2@\u@F?E2:? $J?5C@>6 92D :56?E:7:65 >@C6 E92? bad A2E:6?ED H@C=5H:56] %96 u@F?52E:@? 5C:G6D E@H2C5 2 4FC6 3J >2:?E2:?:?8 2 A2E:6?E C68:DECJ[ 3F:=5:?8 2 3:@C6A@D:E@CJ @7 D2>A=6D 7@C C6D62C49[ 7F?5:?8 D4:6?E:7:4 DEF5:6D[ 2?5 A2CE?6C:?8 H:E9 4=:?:4:2?D 2?5 C6D62C496CD :? E96 &?:E65 $E2E6D 2?5 2C@F?5 E96 H@C=5] xE 2=D@ 4@??64ED 2?5 DFAA@CED 27764E65 72>:=:6D[ 96=A:?8 E9@D6 H9@ 2C6 ?6H=J 5:28?@D65 7:?5 4@>>F?:EJ[ :?7@C>2E:@?[ 2?5 42C6] %@ =62C? >@C6 @C E@ 4@??64E H:E9 E96 u@F?52E:@?[ G:D:E k2 9C67lQ9EEADi^^6586]AC?6HDH:C6]4@>^4^=:?<^nEl_U2>Aj=l6?U2>Aj@lcf`ddca\`U2>Aj9lahc_hgd_abU2>AjFl9EEADTbpTauTauFDAf]@C8TauU2>Aj2lFDAf]@C8Q E2C86ElQ03=2?<Q C6=lQ?@7@==@HQmFDAf]@C8k^2m]k^Am
kAmkDEC@?8mk6>mp3@FE &A=:7E:?8 pE9=6E6Dk^6>mk^DEC@?8mk^Am
kAm&A=:7E:?8 pE9=6E6D :D 2 ?@?AC@7:E @C82?:K2E:@? 7@F?565 :? a__f E92E 92C?6DD6D E96 A@H6C @7 DA@CE E@ 3F:=5 2 4@>>F?:EJ E92E :?G6DED :? E96 =:G6D @7 E96 >@C6 E92? b_ >:==:@? A6@A=6 :>A24E65 3J C2C6 5:D62D6D :? p>6C:42] $:?46 :ED :?46AE:@?[ &A=:7E:?8 pE9=6E6D 92D C2:D65 >@C6 E92? S`a >:==:@? 3J 6?828:?8 2E9=6E6D E@ A@D:E:G6=J :>A24E E96 C2C6 5:D62D6 4@>>F?:EJ E9C@F89 5C:G:?8 24E:@?[ 2H2C6?6DD[ 2?5 7F?5:?8 C6D62C49] %@ =62C? >@C6 23@FE &A=:7E:?8 pE9=6E6D[ G:D:E k2 9C67lQ9EEADi^^6586]AC?6HDH:C6]4@>^4^=:?<^nEl_U2>Aj=l6?U2>Aj@lcf`ddca\`U2>Aj9l`a_ggfgdh`U2>AjFl9EEADTbpTauTauHHH]FA=:7E:?82E9=6E6D]@C8U2>Aj2lHHH]FA=:7E:?82E9=6E6D]@C8Q E2C86ElQ03=2?<Q C6=lQ?@7@==@HQmHHH]FA=:7E:?82E9=6E6D]@C8k^2m]k^Am
kAmkDEC@?8mr@?E24Eik^DEC@?8mk^Am
kAmkDEC@?8mq@ q:86=@Hk^DEC@?8mk^Am
kAmkDEC@?8mu@F?52E:@? 7@C w2@\u@F?E2:? $J?5C@>6k^DEC@?8mk^Am
kAmkDEC@?8mWa_fX gbg\ahcak^DEC@?8mk^Am
kAmkDEC@?8mk2 9C67lQ>2:=E@i3@]3:86=@HoFDAf]@C8Q E2C86ElQ03=2?<Q C6=lQ?@7@==@HQm3@]3:86=@HoFDAf]@C8k^2mk^DEC@?8mk^Am
k5:G 4=2DDlQ!#}0x>365565pDD6E#676C6?46Q :5lQs:GpDD6E!=246w@=56CaQmkAmk2 9C67lQ9EEADi^^>>2]AC?6HDH:C6]4@>^>65:2^ahhfe__^u@F?52E:@?07@C0w2@0u@F?E2:?0$J?5C@>600t>:=:60z@C492<0!9s02E0E960&A=:7E:?80pE9=6E6D0*@F?80x?G6DE:82E]9E>=Q E2C86ElQ03=2?<Q C6=lQ?@7@==@HQmk^2mk^Amk^5:Gm
kA :5lQ!&#{Qmk:>8 E:E=6lQr:D:@?Q H:5E9lQ`aQ 96:89ElQ`aQ 2=ElQr:D:@?Q DC4lQ9EEADi^^6586]AC?6HDH:C6]4@>^4^:>8^72G:4@?]A?8nD?l}tgfh_aU2>AjD5la_ae\_e\`hQ ^m ':6H @C:8:?2= 4@?E6?E E@ 5@H?=@25 >F=E:>65:2ik2 :5lQ!#}&#{Q C6=lQ?@7@==@HQ 9C67lQ9EEADi^^HHH]AC?6HDH:C6]4@>^?6HD\C6=62D6D^6>:=:6\<@C492<\AC6D6?E65\H:E9\2\a_\___\C6D62C49\8C2?E\7C@>\FA=:7E:?8\2E9=6E6D\2?5\E96\7@F?52E:@?\7@C\92@\7@F?E2:?\DJ?5C@>6\b_ag_dbfg]9E>=Q E2C86ElQ03=2?<Qm9EEADi^^HHH]AC?6HDH:C6]4@>^?6HD\C6=62D6D^6>:=:6\<@C492<\AC6D6?E65\H:E9\2\a_\___\C6D62C49\8C2?E\7C@>\FA=:7E:?8\2E9=6E6D\2?5\E96\7@F?52E:@?\7@C\92@\7@F?E2:?\DJ?5C@>6\b_ag_dbfg]9E>=k^2mk^Am
kAm$~&#rt u@F?52E:@? 7@C w2@\u@F?E2:? $J?5C@>6k^Am
kAmk:>8 2=ElQQ DC4lQ9EEADi^^CE]AC?6HDH:C6]4@>^CE]8:7n}6HDxE6>x5l}tgfh_aU2>Aj%C2?D>:DD:@?0x5la_ae_e`h_gaa!#0}t($0&$!#00000}tgfh_aU2>Ajs2E6x5la_ae_e`hQ DEJ=6lQ3@C56Ci_AIj H:5E9i`AIj 96:89Ei`AIjQ ^mk^Am
