when i started my pediatric genetic practice over 20 yrs ago, i was frustrated by constantly having to tell families and patients that i ‘dn’t answer many o'their ?s bout autism and wha’ the future held 4'em. wha’ were the causes o'their child’s pticular behavioral and med challenges? ‘d their child talk? ‘ve seizures? wha’ i did know was that research was the key to unlocking the mysteries offa remarkably heterogeneous disorder that affects + than 5 million americans and has no fda-approved treatments. now, thx in large pt to the impact of genetic research, those answers are starting to come into focus.
5 yrs ago we launched spark ( simons foundation powering autism research for knowledge) to harness the power of big data by engaging hundreds of thousands of individuals with autism and their family members to pticipate in research. the + pplz who pticipate, the deeper and richer these data sets become, catalyzing research that is expanding our knowledge of both biology and behavior to develop + precise approaches to med and behavioral issues.
spark tis realm’s largest autism research study to date with over 250,000 pticipants, + than 100,000 of whom ‘ve provided dna samples through the simple act of spitting in a tube. we ‘ve generated genomic data that ‘ve been de-identified and made available to qualified researchers. spark has itself been able to analyze 19,000 genes to find possible connections to autism; worked with 31 of the nation’s leading med schools and autism research centers; and helped thousands of pticipating families enroll in nearly 100 additional autism research studies.
genetic research has taught us that wha’ we comm1-ly call autism is actually a spectrum of hundreds of conditions that vary widely among adults and children. across this spectrum, individuals share core symptoms and challenges with social interaction, restricted interests and/or repetitive behaviors.
we now know that genes play a central role inna causes of these “autisms,” which are the result of genetic changes in combination with other causes including prenatal factors. to date, research employing data sci and machine learning has identified ≈ 150 genes rel8d to autism, but suggests there maybe as many as 500 or +. finding additional genes and commonalities among individuals who share similar genetic differences is crucial to advancing autism research and developing improved supports and treatments. primordially, we will take a page from the playbook that oncologists use to treat certain types of cancer based upon their genetic signatures and apply targeted therapeutic strategies to help pplz with autism.
but in order t'get answers faster and be certain of these results, spark and our research ptners need a huge sample size: “bigger data.” to ensure an accurate inventory of all the major genetic contributors, and learn if and how ≠ genetic variants contribute to autistic behaviors, we need not 1-ly the largest b'tll so the most diverse group of pticipants.
the genetic, med and behavioral data spark collects from pplz with autism and their families is rich in detail and can be leveraged by many ≠ investigators. access to rich data sets draws talented scis to the field of autism sci to develop new methods of finding patterns inna data, better predicting associated behavioral and med issues, and, perhaps, identifying + effective supports and treatments.
genetic research is already providing answers and insites bout prognosis. for ex, one spark family’s genetic result is strongly associated witha lack of spoken language but an ability to cogg language. armed with this information, the med team provided the child with an assistive communication device that decreased tantrums that arose from the child’s frustration at bein’ unable to express himself. an adult who was diagnosed at age 11 witha form of autism that used to be known as asperger’s syndrome recently learned that the cause of her autism is kmt2c-rel8d syndrome, a rare genetic disorder caused by changes inna gene kmt2c.
some genetic syndromes associated with autism also confer cancer risks, so receiving these results is pticularly primordial. we ‘ve returned genetic results to families with mutations in pten, which is associated witha higher risk of breast, thyroid, kidney and uterine cancer. a genetic diagnosis means'dat they can now be screened earlier and + frequently for specific cancers.
in other cases, spark has identified genetic causes of autism that can be treated. through whole exome sequencing, spark identified a case of phenylketonuria (pku) twas' missed during newborn screening. this inherited disorder causes a buildup of amino acid inna blood, which can cause behavior and movement problems, seizures and developmental disabilities. with this knowledge, the family started their child on treatment witha speshized diet including lo lvls of phenylala9.
tody, thx to a growing community of families affected by autism who, literally, give a pt of themselves to help cogg the vast complexities of autism, i can tell bout 10 % of parents wha’ genetic change caused their child’s autism.
we know that big data, with each person representing their unique profile of some1 impacted by autism, will lead to many of the answers we seek. better genetic insites, gleaned through complex analysis of rich data, will help provide the means to support individuals—children and adults across the spectrum—through early intervention, assistive communication, tailored education and, somedy, genetically-based treatments. we strive to enable every person with autism to be the best possible version of themselves.
this is an opinion and analysis article.
original content at: rss.sciam.com…
authors: wendy chung