Sandra Bedrosian Sermone
Founder & President, ADNP Kids Research Foundation
Founder, ADNPkids.com
Email: sandra@adnpfoundation.org
Linked In: sandra bedrosian sermone
Sandra founded ADNPkids.com in 2015 and the ADNP Kids Research Foundation (IRS accredited 501(c)3 nonprofit) in 2016 and acts as the Chief Executive Officer and Board President for the foundation.
Sandra serves with the following organizations.
ADNP
In 2014, Sandra's son was the first child in the US diagnosed (5.2014-Duke University) with a de novo mutation on his ADNP gene just months after the discovery of the ASD-related syndrome. At that time the genetic disorder had NO name, NO support, NO doctors who understood it, NO medical protocol, NO information, NO way to connect with other families, and worst of all - NO treatment and NO cure.
In 2015, Sandra began her own research and soon after launched the worlds 1st ADNP parent group via Facebook with the goal of helping and connecting other families affected by ADNP syndrome. She also created ADNPkids.com, the first ADNP syndrome informational website that is used by families and doctors worldwide.
In 2016 Sandra founded the ADNP Kids Research Foundation (accredited 501(c)3 nonprofit) dedicated to funding research, advocacy, awareness and support for children living with ADNP syndrome.
Sandra works in collaboration with medical researchers around the world and began a parent/patient generated research project where she built her own patient registry, and to-date has the largest collection of diagnosed patients in the world. She now works closely with some of the best research facilities in the world in genetics, autism and the brain.
Using findings from her research, In early 2015, she discovered 'premature tooth eruption' as a early diagnostic biomarker. She collaborated with a European research team (Gozes, Kooy, Dijck) to investigate and for the first time, this biomarker was proven to be associated with the ADNP related autistic disorder. This biomarker is not seen in any other syndrome in the world, making it unique to ADNP.
She has several published papers (PUBMED or ResearchGate) and wants to continue bringing awareness to ADNP Syndrome and to FIND MORE RESEARCHERS INTERESTED IN INVESTIGATING ADNP SYNDROME for better understanding and treatment discovery.
Sandra pushes to advocate for better medical protocol and care, individualized special education and legislation topics that effect those living with rare diseases such as ADNP.
In April of 2016, Sandra was sent to Washington to DC to speak to members of Congress about the difficulties of obtaining genetic testing (LDT's/WES) for rare undiagnosed genetic syndromes in children and the importance to precision medicine. She is now working closely with biotech and ADNP currently has the first treatment option in the beginning state of clinical trial. This information can be found within the foundation website.
Sandra has been involved with ADNP drug development since 2018, when she first attended a PRE-IND meeting for a potential treatment. In 2019, Sandra, along with another father, she researched, hypothesized and presented a repurposed drug that they felt could be therapeutic. A team at Mount Sinai agreed it looked viable, moved forward and in less than a year, have begun the first ever FDA clinical drug trial for ADNP Syndrome.
Founder & President, ADNP Kids Research Foundation
Founder, ADNPkids.com
Email: sandra@adnpfoundation.org
Linked In: sandra bedrosian sermone
Sandra founded ADNPkids.com in 2015 and the ADNP Kids Research Foundation (IRS accredited 501(c)3 nonprofit) in 2016 and acts as the Chief Executive Officer and Board President for the foundation.
Sandra serves with the following organizations.
- Legislative Advocacy Ambassador, Autism Speaks
- Community Advisory Committee Member, SPARK for Autism (Simons Foundation)
- RAN Washington State Co-Ambassador, National Organization of Rare Disorders (NORD)
- Member, International Society for Autism Research
- Member, ADNP International Consortium
- Member, Global Genes Foundation Alliance
- Member, Everylife Foundation Community Congress
- Member, Combined Brain
ADNP
In 2014, Sandra's son was the first child in the US diagnosed (5.2014-Duke University) with a de novo mutation on his ADNP gene just months after the discovery of the ASD-related syndrome. At that time the genetic disorder had NO name, NO support, NO doctors who understood it, NO medical protocol, NO information, NO way to connect with other families, and worst of all - NO treatment and NO cure.
In 2015, Sandra began her own research and soon after launched the worlds 1st ADNP parent group via Facebook with the goal of helping and connecting other families affected by ADNP syndrome. She also created ADNPkids.com, the first ADNP syndrome informational website that is used by families and doctors worldwide.
In 2016 Sandra founded the ADNP Kids Research Foundation (accredited 501(c)3 nonprofit) dedicated to funding research, advocacy, awareness and support for children living with ADNP syndrome.
Sandra works in collaboration with medical researchers around the world and began a parent/patient generated research project where she built her own patient registry, and to-date has the largest collection of diagnosed patients in the world. She now works closely with some of the best research facilities in the world in genetics, autism and the brain.
Using findings from her research, In early 2015, she discovered 'premature tooth eruption' as a early diagnostic biomarker. She collaborated with a European research team (Gozes, Kooy, Dijck) to investigate and for the first time, this biomarker was proven to be associated with the ADNP related autistic disorder. This biomarker is not seen in any other syndrome in the world, making it unique to ADNP.
She has several published papers (PUBMED or ResearchGate) and wants to continue bringing awareness to ADNP Syndrome and to FIND MORE RESEARCHERS INTERESTED IN INVESTIGATING ADNP SYNDROME for better understanding and treatment discovery.
Sandra pushes to advocate for better medical protocol and care, individualized special education and legislation topics that effect those living with rare diseases such as ADNP.
In April of 2016, Sandra was sent to Washington to DC to speak to members of Congress about the difficulties of obtaining genetic testing (LDT's/WES) for rare undiagnosed genetic syndromes in children and the importance to precision medicine. She is now working closely with biotech and ADNP currently has the first treatment option in the beginning state of clinical trial. This information can be found within the foundation website.
Sandra has been involved with ADNP drug development since 2018, when she first attended a PRE-IND meeting for a potential treatment. In 2019, Sandra, along with another father, she researched, hypothesized and presented a repurposed drug that they felt could be therapeutic. A team at Mount Sinai agreed it looked viable, moved forward and in less than a year, have begun the first ever FDA clinical drug trial for ADNP Syndrome.
SANDRA'S ARTICLES, NEWS AND PUBLICATIONS
NATIONAL NEWS STORIES
- ONE MOMS MISSION TO FIND CURE FOR SON'S RARE DISEASE: | *CBS News / National
- WASHINGTON MOM DESPARATE TO FIND CURE FOR SON’S RARE DISEASE | *People.com
- A MOTHERS JOURNEY TO BECOMING A CITIZEN SCIENTIST | Global Genes
- SEAVER AUTISM CENTER FOR RESEARCH AND TREATMENT AT MOUNT SINAI LAUNCHES FIRST DRUG TRIAL FOR ADNP SYNDROME | Mount Sinai News
- NEW CLINICAL TRIAL WILL TEST WHETHER KETAMINE CAN BE USED TO TREAT CHILDREN WITH AUTISM | Mount Sinai News
- USING AL TO FURTHER ADNP SYNDROME RESEARCH | Patient Worthy
- LOCAL MOTHER'S QUEST TO DEFEND PRECISION MEDICINE | * The Oregonian – OregonLive
- PARENTS, PRECISION MEDICINE, AUTISM AND GENETICS | * Spectrums Magazine
- THE AUTISM SPECTRUM PHENOTYPE IN ADNP SYNDROME | *Journal of International Society for Autism Research (co-author)
- SEATTLE SEAHAWKS PLAYER HONORS WASHINGTON BOY WITH RARE DISORDER - ADNP SYNDROME | *KGW News Portland
- A MOTHER'S QUEST TO UNRAVEL A MYSTERY AND PUSH RESEARCH FORWARD - A FIGHT FOR TONY | * Interactive Autism Network at Kennedy Krieger Institute
- PRECOCIOUS BABY TEETH SIGNAL RARE FORM OF AUTISM | * Spectrum News
- THE COMPASSIONATE SIDE OF NEUROSCIENCE: TONY SERMONE'S UNDIAGNOSED GENETIC JOURNEY - ADNP MUTATION | * Journal of Molecular Neuroscience (co-author)
- IAN MEMBER DISCOVERES EARLY WARNING SIGN FOR AUTISM SYNDROME | * Interactive Autism Network at Kennedy Krieger Institute
- LOCAL MOM HELPING CHANGE THE WAY DOCTORS LOOK AT RARE GENETIC SYNDROME LINKED TO AUTISM | * FOX-12 NEWS (OREGON)
- UNEXPECTED INNOVATIVE EARLY DIAGNOSIS IN AUTISM SPECTRUM DISORDER: PREMATURE PRIMARY TOOTH ERUPTION IN ADNP-MUTATED CHILDREN |
- * Translational Psychiatry (co-author)
- SAVVY MOM MOVES SCIENCE FORWARD: ADNP AND AUTISM | * Seattle Children's Hosptial – The Autism Blog
- ADNP - THE MEDICAL ODYSSEY OF A UNDIAGNOSED CHILD | * Tel Aviv University Newsroom
- THE EIGHT AND A HALF YEAR JOURNEY OF UNDIAGNOSED AD | *Frontiers in Endocrinology (co-author)
- AUTISM AND ADNP SYNDROME: A GENETIC SEARCH FOR A BIOMARKER DISCOVERY | *Autism Speaks
- WHY MY SON WITH ADNP SYNDROME IS JUST LIKE SUPERMAN | * The Mighty.com
- LOCAL MOTHER'S QUEST TO DEFEND PRECISION MEDICINE | * The Oregonian – OregonLive
- PARENTS, PRECISION MEDICINE, AUTISM AND GENETICS | * Spectrums Magazine
