Page 2 - LabMedya - ENG - 09

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2 HEALTH AND LABORATORY MAGAZINE

No: 09 August 2022
ISSN: 2148-953X

CHAIRMAN
Süleyman GÜLER A NEW HORRIFYING
EDITOR
Berat DURMAZ GENETIC DISEASE

GRAPHIC DESIGNER
Berat DURMAZ
ADVISORY BOARD
Professor Dr. Kadir HALKMAN A new genetic disease slows down
Professor Dr. Aziz EKŞİ
Melek MALKOÇ children’s brain development.
Exp. Yelda ZENCİR
Özlem Etiz SAĞDAŞ
Nevin KOÇAKER

LEGAL ADVISORS
Hunting. Ersan BARKIN A new genetic disease that consists of frog geneticists,
Hunting. Murat TEZCAN tadpoles with sufficient cess of re-creating some
causes some children’s biochemists, and clinical accuracy to detect genetic gene variants in tadpoles
FINANCIAL CONSULTANT brains to grow abnormally geneticists—used tadpoles disease-linked changes is straightforward and can
İrfan BOZYİĞİT and postpone intellectual in which the human gene opens the opportunity to be done in as little as three
SMMM development has been variations were replicat- help identify a huge range days.
discovered by scientists. ed via gene editing. The of diseases. This is par-
HEAD OFFICE biochemical analysis of the ticularly important given
Oğuzlar Mah. 1374 Sok. No:2/4 The majority of people with variants was also carried that so many neurodevel- Professor Guille added:
Balgat - Ankara TURKEY the disease, which is still so out in frog oocytes. opmental diseases are cur- “We are currently extend-
Tel: +90 312 342 22 45 new that it lacks a name, rently undiagnosed.” ing and improving our
Fax: +90312 342 22 46 struggle with significant Study co-author Professor technology in a program
bilgi@labmedya.com funded by the Medical
learning challenges that Matt Guille, who leads a Co-author Professor
have a negative impact on laboratory in the Epige- Diana Baralle, Professor Research Council; this is
their quality of life. netics and Developmental of Genomic Medicine and making it applicable to the
Biology research group at Associate Dean (Research) wider range of disease-re-
Changes in the pro- the University of Ports- in the Faculty of Medicine lated DNA changes pro-
tein-coding gene known mouth, said: “Next gener- at the University of South- vided to us by our clinical
as Glutamate Ionotropic ation DNA sequencing is ampton added: “Discov- collaborators.
Receptor AMPA Type transforming our ability to ering these new causes
Subunit 1 (GRIA1) were the make new diagnoses and for genetic disorders ends “If the clinical researchers
www.prosigma.net underlying cause of this un- discover new genetic caus- our patients’ diagnostic
info@prosigma.net find the information suffi-
common genetic disorder, es of rare disorders. odyssey and this has been ciently useful, then we will
according to an interna- made possible by collab- continue to work together
tional team of researchers “The main bottleneck in orative interdisciplinary to scale up the pipeline
from the universities of providing diagnoses for working across universi-
DATE OF ISSUE Portsmouth, Southampton, these patients is linking a ties.” of gene function analysis
August 2022 - Ankara and Copenhagen. change discovered in their so it can be used to direct
genome firmly to their dis- One in 17 people will suffer effective interventions for
NOTE TO THE READER The discovery of the ease. Making the suspect from a rare disease at a significant number of
Published in the Labmedya variant will help doctors in genetic change in tadpoles some time in their lives. patients.”
Newspaper featured developing focused treat- allows us to test whether it
in articles and articles Most of these rare diseas-
Responsibility of opinions ments to help patients and causes the same illness in es have a genetic cause The results were published
Broadcast LabMedya not to their families and will pave humans. and often affect children, in the American Journal of
its body and / or Prosigma the way for screening and but proving which gene Human Genetics.
Company, belongs to the prenatal diagnosis. “The resulting data allow us change causes disease is a
authors. Authors may have to support our colleagues huge challenge. Article: “Identification
consultancy or other business The GRIA1 gene facilitates in providing the more time- and functional evalua-
relationships with companies the movement of electrical ly, accurate diagnosis that Professor Guille said that
involved in their work. Ads impulses inside the brain. patients and their families previously, while studies tion of GRIA1 missense
also; is the responsibility of The brain’s ability to re- so desperately need.” connecting a gene and and truncation variants
advertisers. The product member information may in individuals with ID: An
information published on the a disease were mainly emerging neurodevelop-
product introduction pages be hampered if this pro- Co-author Dr. Annie Good- performed in mice; several mental syndrome” 7 June
are the presentations of the cess is interfered with or if it win, a Research Fellow at labs, including his own at 2022, American Journal of
relevant companies and the is rendered less efficient. the University of Ports- the University of Ports-
manufacturer Responsibility. mouth who performed mouth, have recently Human Genetics.
To demonstrate that much of the study, said: shown that experiments in
In addition to the Labmedya GRIA1 mutations are the “This was a transforma- tadpoles can also provide DOI: 10.1016/j.
fundamental cause of the tional piece of work for very strong evidence about ajhg.2022.05.009
WHAT IS LABMEDYA ? behavior-altering disease, us; the ability to analyze the function of variant
www.labmedya.com the study team—which human-like behaviors in human genes. The pro-