In February 2025, a medical team at UCSF delivered the first personalized CRISPR therapy to an infant with CPS1 deficiency, a rare metabolic disorder that prevents the body from breaking down ammonia. The treatment was designed specifically for that child's genetic mutation, built from scratch as a one-time intervention outside any clinical trial. For families navigating rare pediatric diagnoses, that news raises the question everyone asks: does this apply to my child? The short answer is that most children with rare disorders won't qualify for personalized CRISPR therapy in the next few years. But the infrastructure being built right now, including the research centers, clinical trials, and specialized expertise at major children's hospitals, will determine which conditions move from "in development" to "available" over the next decade. Knowing where that infrastructure exists and what questions to ask your care team matters more than following every breakthrough announcement. What CRISPR Does and What It Doesn't Fix. CRISPR is a gene editing tool. It cuts DNA at a specific location and either removes a faulty segment, inserts a corrected one, or turns a gene on or off. When it works, it addresses the genetic cause of a disease rather than managing symptoms. That precision is what makes it powerful for rare disorders. Many of these conditions are caused by a single mutation in a known gene. If you can fix that mutation, you can stop the disease progression. But CRISPR doesn't work for every rare disorder. It's most effective when the genetic...

The first personalized CRISPR therapy was delivered to an infant in February 2025. What this means for your child's eligibility.

CRISPR Gene Therapy for Rare Pediatric Disorders: What Families Need to Know

Your child's neurologist just recommended genetic testing. The referral says "chromosomal microarray" but when you called to schedule, the genetic counselor asked if you'd considered whole genome sequencing instead. Now you're trying to figure out whether the $300 test is enough or if you should fight your insurance for the $3,000 one. The short answer: it depends on what you're trying to find, what your insurance will cover, and how much uncertainty you can live with while you wait for answers. What Each Test Detects. Chromosomal microarray (CMA) looks for chunks of DNA that are missing or duplicated. It catches deletions and duplications as small as 50,000 base pairs, which is enough to identify most chromosome disorders. CMA is the test that finds conditions like 22q11.2 deletion syndrome or Angelman syndrome when a child has autism, developmental delays, or unexplained intellectual disability. Whole exome sequencing (WES) reads the protein-coding portions of your child's genome, about 1-2% of the total. It's good at finding point mutations (single-letter changes in DNA) that cause disease. If your child has a rare genetic condition caused by one broken gene, WES is more likely to catch it than CMA. Whole genome sequencing (WGS) reads all 3 billion base pairs. It's the most comprehensive option and catches everything WES does plus mutations in non-coding regions that regulate how genes work. It also produces the highest volume of variants of uncertain significance (VUS), meaning results your doctors can't interpret yet. CMA won't find single-gene mutations. WES won't...

Compare CMA and WGS for autism, cerebral palsy, and developmental delays - costs, diagnostic yields, and when to use each test.

Chromosomal Microarray vs. Whole Genome Sequencing: Which Genetic Test Is Right for Your Child?

Your child has a diagnosis. Autism, cerebral palsy, global developmental delay. The pediatrician mentions genetic testing. You're not sure what that means or whether it changes anything. Genetic testing after a developmental diagnosis isn't about confirming what you already know. It's about finding out whether there's an underlying genetic cause that could affect treatment decisions, connect you to clinical trials, or inform family planning. For some families, it provides answers. For others, it rules out specific conditions. And for many, the results are inconclusive. Here's what each type of genetic test can tell you, what it costs, and when it's recommended. Why Genetic Testing Matters After a Diagnosis. A diagnosis like autism or cerebral palsy describes your child's symptoms and developmental pattern. It doesn't always explain the root cause. Genetic testing looks for changes in chromosomes or genes that could be driving those symptoms. Finding a genetic cause can open doors you didn't know existed. A specific genetic diagnosis may qualify your child for clinical trials testing new therapies. It can guide medical monitoring for related health issues that appear with certain genetic conditions. And if a genetic variant is identified, siblings and future pregnancies can be screened. But genetic testing doesn't always find a cause. A genetic variant is identified in fewer than 25% of autism cases, around 32% of cerebral palsy cases when the cause isn't clear, and 36-53% of unexplained global developmental delay or intellectual disability cases. Those numbers matter because they set realistic expectations. When testing...

Which genetic tests to consider, what they cost, expected diagnostic yields, and when testing is recommended after diagnosis.

Understanding Genetic Testing for Autism, Cerebral Palsy, and Developmental Disabilities: A Parent's Guide

Two biotech companies recently announced that sequencing the human genome–each person's individual DNA blueprint–would soon be possible to do within a single day and for approximately $1,000.  The day following this announcement, researchers at renowned St. Jude's Children's Hospital in Memphis, TN, and Washington University in Saint Louis, MO, reported that sequencing the genomes of patients with cancer might lead to better treatments. In one study, the researchers discovered that 12 patients with early T-cell precursor acute lymphoblastic leukemia had more in common genetically with a different type of leukemia than with other acute lymphoblastic leukemias. This research is a part of the Pediatric Cancer Genome Project, which is a three-year effort to sequence 600 pediatric cancers and the normal DNA of the children who have them. St. Jude Chief Executive Dr. William Evans told the Los Angeles Times Booster Shot blog that "We want to understand: What mutations cause a normal cell to turn into cancer?" In the other study involved in the project, researchers sequenced the tumors of four children with retinoblastoma, a rare type of eye cancer. The results pointed to a gene known as SYK, which could be targeted for treating the disease. If the gene could be turned off, perhaps the growth of cancer could be reversed in patients. Evans expressed hope that someday all children coming into St. Jude for cancer treatment would have their genomes sequenced to look for clues to curing the disease. The price of tests continues to fall, and...

St. Jude's study shows genome sequencing may lead to better cancer treatments, aiming to sequence 600 pediatric cancer genomes.

Clues to Treating Cancers Found in Genomes

In a new study of more than 9,500 children in Denmark who had been diagnosed with an autism spectrum disorder, researchers found that children born to a parent over the age of 35 had a higher risk of developing autism. Interestingly, the data also showed that the risk is the same whether both parents are older or only one of them is.  Erik Thorlund Parner, who led the study at the University of Aarhus School of Public Health, tells Reuters Health that if genetic problems arising from older sperm or eggs explain the results, then having both an older sperm and an older egg together should add up to an even higher risk of autism for the child. But this study raises questions as to why older parents are more likely to have children with autism due to the fact that two older parents did not create a higher risk than just one. The data from this study showed that children had a 28 percent higher risk of being diagnosed on the spectrum if they were born to fathers in their late thirties, as opposed to fathers who were under the age of 35. Likewise, mothers who were over the age of 35 were 21 to 27 percent more likely to have children who develop autism. These results were regardless of the age of the other partner.  The odds of an autism diagnosis increased even more if either parent was over the age of 40: children with fathers...

Study: Children of parents over 35 have higher autism risk; same risk with one or both older parents.

Parent Age Related to Child's Odds for Autism

 The mystery surrounding autism's causes frequently leads to research, including gene studies. New gene studies investigating hundreds of families of children with autism have pointed out that mutations might be responsible for some cases of autism.   In the recent gene studies, mutations in genes that code proteins appear to be linked to autism. These mutations are more present in older parents, and fathers are four times more likely than mothers to pass on these mutations; this research points to an answer as to why older parents have an increased risk of having a child with autism.   The exome, or the part of genes that codes for proteins, is the piece responsible for this risk of autism. According to the gene studies, these mutations could result in a five to 20 percent higher risk for developing autism. These genetic mutations can happen anywhere across the genetic code and are typically harmless, but when those genomes are needed for brain development, it can cause problems.   The teams of researchers, led by Mark Daly of the Broad Institute at Harvard and Massachusetts Institute of Technology, Dr. Matthew State of Yale University and Evan Eichler of the University of Washington in Seattle, are identifying genes that could be used to find treatments for autism. While scientists have found dozens of genes that might increase the risk of autism, the disorder is complex and has so many varieties that genes often only account for 10 to 20 percent...

New gene studies suggest mutations in sperm linked to protein coding may contribute to autism, particularly with older or male parents.

Gene Studies Attempt to Solve Autism Mystery

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Special Needs
Articles

CRISPR Gene Therapy for Rare Pediatric Disorders: What Families Need to Know

Chromosomal Microarray vs. Whole Genome Sequencing: Which Genetic Test Is Right for Your Child?

Understanding Genetic Testing for Autism, Cerebral Palsy, and Developmental Disabilities: A Parent's Guide

Clues to Treating Cancers Found in Genomes

Parent Age Related to Child's Odds for Autism

Gene Studies Attempt to Solve Autism Mystery

Find Providers Near You

Special Needs Articles

CRISPR Gene Therapy for Rare Pediatric Disorders: What Families Need to Know

Chromosomal Microarray vs. Whole Genome Sequencing: Which Genetic Test Is Right for Your Child?

Understanding Genetic Testing for Autism, Cerebral Palsy, and Developmental Disabilities: A Parent's Guide

Clues to Treating Cancers Found in Genomes

Parent Age Related to Child's Odds for Autism

Gene Studies Attempt to Solve Autism Mystery

Find Providers Near You

Special Needs
Articles