What microRNAs could tell us about the human X chromosome

Article Title: What microRNAs could tell us about the human X chromosome

Authors: Di Palo, Siniscalchi, Salerno, Russo, Gravholt and Potenza

Date of Publication: April 30, 2020

“MicroRNAs (miRNA) are small-non coding RNAs endowed with great regulatory power, thus playing key roles not only in almost all physiological pathways, but also in the pathogenesis of several diseases. Surprisingly, genomic distribution analysis revealed the highest density of miRNA sequences on the X chromosome; this evolutionary conserved mammalian feature equips females with a larger miRNA machinery than males. However, miRNAs contribution to some X-related conditions, properties or functions is still poorly explored. With the aim to support and focus research in the field, this review analyzes the literature and databases about X-linked miRNAs, trying to understand how miRNAs could contribute to emerging gender-biased functions and pathological mechanisms, such as immunity and cancer. A fine map of miRNA sequences on the X chromosome is reported, and their known functions are discussed; in addition, bioinformatics functional analyses of the whole X-linked miRNA targetome (predicted and validated) were performed. The emerging scenario points to different gaps in the knowledge that should be filled with future experimental investigations, also in terms of possible implications and pathological perspectives for X chromosome aneuploidy syndromes, such as Turner and Klinefelter syndromes.”

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ACRC Accomplishments

In 2015, the AXYS Board of Directors voted to approve the development of the AXYS Clinical and Research Consortium (ACRC). The two goals that AXYS defined at that time were to improve the availability and the quality of services to the X&Y variation community. As the ACRC grew, the original goals were refined to be as follows:

  • Make life easier for those seeking evaluation and treatment.
  • Bring consistency to treatment that is consensus and/or evidence-based.
  • Advance the overall X&Y variation field through coordinated efforts including research.
  • Bring clinical excellence to the field of X&Y variations.

Though each clinic operates independently, as members of a consortium, they collaborate with one another, share informational resources, and have the opportunity to participate in joint research projects.

In addition, AXYS organizes annual meetings of the consortium at which members meet to discuss topics important to the X&Y chromosome variation community. AXYS works to ensure that all families impacted by any of the chromosome variations have access to the best available evaluation and treatment or treatment recommendations.

Timeline of the ACRC

(Click on the year to see the accomplishments for that year.)

AXYS brought on Robby Miller as an experienced consultant to assist AXYS in creating the ACRC. 

First meeting of ACRC 2015

First meeting of ACRC 2015

The formation committee, Dr. Tartaglia and Susan Howell of the eXtraordinarY Kids Clinic in Colorado, Jim Moore the AXYS Executive Director and Robby met. The consortium was formed.

First ACRC meeting held in Denver.

AXYS Clinical Needs and Desires survey, supported by AXYS, Emory University and PCORI began.

AXYS Clinical Needs and Desires survey concluded. Results presented to ACRC by lead investigator Dr. Sharron Close.

Launched with 8 founding clinics: Atlanta, Baltimore, Chicago, Denver, Los Angles, New York, Stanford, Wilmington

ACRC meets in Denver

Discussed need for Adult clinics

Added clinic in Wake-Forest

ACRC meets in Chicago

Began Consensus Documents

Added clinic in Philadelphia

ACRC meets in Atlanta

Conducted study to pilot a process to form clinics for adults, funded by the WITH Foundation Grant. Study led by Sharron Close at Emory University and Susan Howell at Colorado Children’s Hospital.

2019 CME Grant Team

AXYS awarded grant from the Kosloski Family Foundation to create CME course on Klinefelter Syndrome in Adults

Added clinics in Boston and Cleveland

Photo of 2019 ACRC meeting

Photo of 2019 ACRC meeting

First virtual ACRC meeting

Held quarterly ACRC meetings with dedicated discussions on telehealth, Families of Color and Adult clinics.

Added clinic in New York, second clinic in Philadelphia for adults

Added first international clinics in Vancouver, Canada and Århus, Denmark.

Expanded ACRC to include clinical researchers:

  • Megan A. Allyse, PhD. Mayo Clinic, United States
  • Christine Disteche, PhD, University of Washington, United States
  • Claus Gravholt, MD, PhD, Aarhus University Hospital, Århus, Denmark
  • Armin Raznahan MD, PhD, National Institutes of Health, United States
  • Sophie van Rijn, PhD, Leiden University, The Netherlands

Published first Consensus Documents

Added international clinic in London, UK.

The Expert in the Room

Article Title: The Expert in the Room: Parental Advocacy for Children with Sex Chromosome Aneuploidies

Authors: Richardson, Riggan, and Allyse

Date of Publication: November 2, 2020

“Owing to fragmentation in the medical system, many parents of children with disabilities report taking on a care coordinator and advocate role. The parental advocacy and care coordination requirements are further amplified in this population because of a lack of awareness about sex chromosome aneuploidies (SCAs) in medical and social services settings, as well as the complex needs of affected children. This burden disproportionately affects mothers and low-resource families as a result of gendered ideas of parenthood and social stratification in resource access. The aim of this study is to understand the unique parental burdens of SCAs and family support needs.”

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Counseling in Pediatric Populations at Risk for Infertility and/or Sexual Function Concerns

Article Title: Counseling in Pediatric Populations at Risk for Infertility and/or Sexual Function Concerns

Authors: Nahata, Quinn, and Tishelman

Date of Publication: July 30, 2018

“Health care providers and parents report challenges in knowing how and when to discuss these issues. In this context, the goal of this clinical report is to review evidence and considerations for providers related to information sharing about impaired fertility and sexual function in pediatric patients attributable to congenital and acquired conditions or treatments.”

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2020-10-09T12:25:06-04:00Categories: 47,XXY (Klinefelter), 48,XXYY, Other Variations, XXXY|

Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

Article Title: Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

Authors: S. van Rijn, L. Stockmann, G. van Buggenhout, C. van Ravenswaaij-Arts, and H. Swaab

Date of Publication: 2014

This 2014 paper by Dr. Sophie van Rijn is an excellent study on the Theory of Mind and “the reported social behavioral difficulties in individuals with an extra X chromosome include shyness, social withdrawal, social anxiety, social immaturity, difficulties in peer relationships, social impulsivity, communication difficulties, reduced social assertiveness and difficulties with ‘being sensitive and responsive to the feelings and rights of others.”

“Individuals with an extra X chromosome are at increased  risk for autism symptoms. This study is the first to assess theory of mind and facial affect labeling in children with an extra X chromosome.”

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2019-04-30T09:29:50-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 48,XXYY, XXXY|
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