Sandra Sermone
FOUNDER, CEO, PRESIDENT
Sandra's full story of why she created the foundation when her son Tony was diagnosed can be found at "ABOUT US / OUR STORY" on this website.
Sandra additionally services with the following organizations:
FOUNDER, CEO, PRESIDENT
Sandra's full story of why she created the foundation when her son Tony was diagnosed can be found at "ABOUT US / OUR STORY" on this website.
Sandra additionally services with the following organizations:
- AUTISM SPEAKS - Legislative Advocacy Ambassador
- SPARK FOR AUTISM (Simons Foundation) - Community Advisory Committee Member
- NATIONAL ORGANIZATION OF RARE DISORDERS (NORD) - Washington State Co-Ambassador
- ADNP INTERNATIONAL CONSORTIUM - Member
- GLOBAL GENES FOUNDATION ALLIANCE - Member
- EVERYLIFE FOUNDATION COMMUNITY CONGRESS - Member
- COMBINED BRAIN - Member
- AGENDA AUTSIM/NDD - Member
- NATIONAL COUNSIL ON SEVERE AUTISM - Member
RESEARCH:
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 own 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 is the Primary Investigator for the ADNP Contact Registry and the ADNP Patient Registry.
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 peptide treatment for ADNP. In 2019, Sandra, along with another father, 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 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 own 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 is the Primary Investigator for the ADNP Contact Registry and the ADNP Patient Registry.
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 peptide treatment for ADNP. In 2019, Sandra, along with another father, 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)
- INNOVATIVE EARLY DIAGNOSIS IN ASD 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
- 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
