The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery

Maria I Kontaridis; Amy E Roberts; Lisa Schill; Lisa Schoyer; Beth Stronach; Gregor Andelfinger; Yoko Aoki; Marni E Axelrad; Annette Bakker; Anton M Bennett; Alberto Broniscer; Pau Castel; Caitlin A Chang; Lukas Cyganek; Tirtha K Das; Jeroen den Hertog; Emilia Galperin; Shruti Garg; Bruce D Gelb; Kristiana Gordon; Tamar Green; Karen W Gripp; Maxim Itkin; Maija Kiuru; Bruce R Korf; Jeff R Livingstone; Alejandro López-Juárez; Pilar L Magoulas; Sahar Mansour; Theresa Milner; Elisabeth Parker; Elizabeth I Pierpont; Kevin Plouffe; Katherine A Rauen; Suma P Shankar; Shane B Smith; David A Stevenson; Marco Tartaglia; Richard Van; Morgan E Wagner; Stephanie M Ware; Martin Zenker

doi:10.1002/ajmg.a.62716

The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery

Maria I Kontaridis, Amy E Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E Axelrad, Annette Bakker, Anton M Bennett, Alberto Broniscer, Pau Castel, Caitlin A Chang, Lukas Cyganek, Tirtha K Das, Jeroen den Hertog, Emilia Galperin, Shruti Garg, Bruce D Gelb, Kristiana GordonTamar Green, Karen W Gripp, Maxim Itkin, Maija Kiuru, Bruce R Korf, Jeff R Livingstone, Alejandro López-Juárez, Pilar L Magoulas, Sahar Mansour, Theresa Milner, Elisabeth Parker, Elizabeth I Pierpont, Kevin Plouffe, Katherine A Rauen, Suma P Shankar, Shane B Smith, David A Stevenson, Marco Tartaglia, Richard Van, Morgan E Wagner, Stephanie M Ware, Martin Zenker

Hubrecht Institute

Research output: Contribution to journal/periodical › Article › Scientific › peer-review

11 Citations (Scopus)

Abstract

RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen-activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic anomalies, little movement has been made in translating these findings to the clinic. This year, the seventh International RASopathies Symposium focused on expanding the research knowledge that we have gained over the years to enhance new discoveries in the field, ones that we hope can lead to effective therapeutic treatments. Indeed, for the first time, research efforts are finally being translated to the clinic, with compassionate use of Ras/MAPK pathway inhibitors for the treatment of RASopathies. This biannual meeting, organized by the RASopathies Network, brought together basic scientists, clinicians, clinician scientists, patients, advocates, and their families, as well as representatives from pharmaceutical companies and the National Institutes of Health. A history of RASopathy gene discovery, identification of new disease genes, and the latest research, both at the bench and in the clinic, were discussed.

Original language	English
Pages (from-to)	1915-1927
Number of pages	13
Journal	American Journal of Medical Genetics, Part A
Volume	188
Issue number	6
DOIs	https://doi.org/10.1002/ajmg.a.62716
Publication status	Published - Jun 2022

Keywords

Costello Syndrome/genetics
Humans
Mitogen-Activated Protein Kinases/metabolism
Noonan Syndrome/genetics
Signal Transduction
ras Proteins/genetics

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10.1002/ajmg.a.62716

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Kontaridis, M. I., Roberts, A. E., Schill, L., Schoyer, L., Stronach, B., Andelfinger, G., Aoki, Y., Axelrad, M. E., Bakker, A., Bennett, A. M., Broniscer, A., Castel, P., Chang, C. A., Cyganek, L., Das, T. K., den Hertog, J., Galperin, E., Garg, S., Gelb, B. D., ... Zenker, M. (2022). The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. American Journal of Medical Genetics, Part A, 188(6), 1915-1927. https://doi.org/10.1002/ajmg.a.62716

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abstract = "RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen-activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic anomalies, little movement has been made in translating these findings to the clinic. This year, the seventh International RASopathies Symposium focused on expanding the research knowledge that we have gained over the years to enhance new discoveries in the field, ones that we hope can lead to effective therapeutic treatments. Indeed, for the first time, research efforts are finally being translated to the clinic, with compassionate use of Ras/MAPK pathway inhibitors for the treatment of RASopathies. This biannual meeting, organized by the RASopathies Network, brought together basic scientists, clinicians, clinician scientists, patients, advocates, and their families, as well as representatives from pharmaceutical companies and the National Institutes of Health. A history of RASopathy gene discovery, identification of new disease genes, and the latest research, both at the bench and in the clinic, were discussed.",

keywords = "Costello Syndrome/genetics, Humans, Mitogen-Activated Protein Kinases/metabolism, Noonan Syndrome/genetics, Signal Transduction, ras Proteins/genetics",

author = "Kontaridis, {Maria I} and Roberts, {Amy E} and Lisa Schill and Lisa Schoyer and Beth Stronach and Gregor Andelfinger and Yoko Aoki and Axelrad, {Marni E} and Annette Bakker and Bennett, {Anton M} and Alberto Broniscer and Pau Castel and Chang, {Caitlin A} and Lukas Cyganek and Das, {Tirtha K} and {den Hertog}, Jeroen and Emilia Galperin and Shruti Garg and Gelb, {Bruce D} and Kristiana Gordon and Tamar Green and Gripp, {Karen W} and Maxim Itkin and Maija Kiuru and Korf, {Bruce R} and Livingstone, {Jeff R} and Alejandro L{\'o}pez-Ju{\'a}rez and Magoulas, {Pilar L} and Sahar Mansour and Theresa Milner and Elisabeth Parker and Pierpont, {Elizabeth I} and Kevin Plouffe and Rauen, {Katherine A} and Shankar, {Suma P} and Smith, {Shane B} and Stevenson, {David A} and Marco Tartaglia and Richard Van and Wagner, {Morgan E} and Ware, {Stephanie M} and Martin Zenker",

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year = "2022",

month = jun,

doi = "10.1002/ajmg.a.62716",

language = "English",

volume = "188",

pages = "1915--1927",

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Kontaridis, MI, Roberts, AE, Schill, L, Schoyer, L, Stronach, B, Andelfinger, G, Aoki, Y, Axelrad, ME, Bakker, A, Bennett, AM, Broniscer, A, Castel, P, Chang, CA, Cyganek, L, Das, TK, den Hertog, J, Galperin, E, Garg, S, Gelb, BD, Gordon, K, Green, T, Gripp, KW, Itkin, M, Kiuru, M, Korf, BR, Livingstone, JR, López-Juárez, A, Magoulas, PL, Mansour, S, Milner, T, Parker, E, Pierpont, EI, Plouffe, K, Rauen, KA, Shankar, SP, Smith, SB, Stevenson, DA, Tartaglia, M, Van, R, Wagner, ME, Ware, SM & Zenker, M 2022, 'The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery', American Journal of Medical Genetics, Part A, vol. 188, no. 6, pp. 1915-1927. https://doi.org/10.1002/ajmg.a.62716

The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. / Kontaridis, Maria I; Roberts, Amy E; Schill, Lisa et al.
In: American Journal of Medical Genetics, Part A, Vol. 188, No. 6, 06.2022, p. 1915-1927.

Research output: Contribution to journal/periodical › Article › Scientific › peer-review

TY - JOUR

T1 - The seventh international RASopathies symposium

T2 - Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery

AU - Kontaridis, Maria I

AU - Roberts, Amy E

AU - Schill, Lisa

AU - Schoyer, Lisa

AU - Stronach, Beth

AU - Andelfinger, Gregor

AU - Aoki, Yoko

AU - Axelrad, Marni E

AU - Bakker, Annette

AU - Bennett, Anton M

AU - Broniscer, Alberto

AU - Castel, Pau

AU - Chang, Caitlin A

AU - Cyganek, Lukas

AU - Das, Tirtha K

AU - den Hertog, Jeroen

AU - Galperin, Emilia

AU - Garg, Shruti

AU - Gelb, Bruce D

AU - Gordon, Kristiana

AU - Green, Tamar

AU - Gripp, Karen W

AU - Itkin, Maxim

AU - Kiuru, Maija

AU - Korf, Bruce R

AU - Livingstone, Jeff R

AU - López-Juárez, Alejandro

AU - Magoulas, Pilar L

AU - Mansour, Sahar

AU - Milner, Theresa

AU - Parker, Elisabeth

AU - Pierpont, Elizabeth I

AU - Plouffe, Kevin

AU - Rauen, Katherine A

AU - Shankar, Suma P

AU - Smith, Shane B

AU - Stevenson, David A

AU - Tartaglia, Marco

AU - Van, Richard

AU - Wagner, Morgan E

AU - Ware, Stephanie M

AU - Zenker, Martin

PY - 2022/6

Y1 - 2022/6

N2 - RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen-activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic anomalies, little movement has been made in translating these findings to the clinic. This year, the seventh International RASopathies Symposium focused on expanding the research knowledge that we have gained over the years to enhance new discoveries in the field, ones that we hope can lead to effective therapeutic treatments. Indeed, for the first time, research efforts are finally being translated to the clinic, with compassionate use of Ras/MAPK pathway inhibitors for the treatment of RASopathies. This biannual meeting, organized by the RASopathies Network, brought together basic scientists, clinicians, clinician scientists, patients, advocates, and their families, as well as representatives from pharmaceutical companies and the National Institutes of Health. A history of RASopathy gene discovery, identification of new disease genes, and the latest research, both at the bench and in the clinic, were discussed.

AB - RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen-activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic anomalies, little movement has been made in translating these findings to the clinic. This year, the seventh International RASopathies Symposium focused on expanding the research knowledge that we have gained over the years to enhance new discoveries in the field, ones that we hope can lead to effective therapeutic treatments. Indeed, for the first time, research efforts are finally being translated to the clinic, with compassionate use of Ras/MAPK pathway inhibitors for the treatment of RASopathies. This biannual meeting, organized by the RASopathies Network, brought together basic scientists, clinicians, clinician scientists, patients, advocates, and their families, as well as representatives from pharmaceutical companies and the National Institutes of Health. A history of RASopathy gene discovery, identification of new disease genes, and the latest research, both at the bench and in the clinic, were discussed.

KW - Costello Syndrome/genetics

KW - Humans

KW - Mitogen-Activated Protein Kinases/metabolism

KW - Noonan Syndrome/genetics

KW - Signal Transduction

KW - ras Proteins/genetics

U2 - 10.1002/ajmg.a.62716

DO - 10.1002/ajmg.a.62716

M3 - Article

C2 - 35266292

SN - 1552-4825

VL - 188

SP - 1915

EP - 1927

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 6

ER -

The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery

Abstract

Keywords

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