The Abrahams lab works to understand the “whys” and “hows” in the Autism Spectrum Disorders and to use these insights to achieve better patient outcomes. Dr. Abrahams has identified DNA variants that increase risk for disease and discovered how some of these impact brain structure and function. Ongoing work is poised to take these insights back to the clinic and improve quality of life for patients and families.

All of the work that they accomplish begins and ends in the clinic. The Abrahams team is always actively recruiting patients (and family members) to participate in genetic studies. If you are interested in being part of their study, you can contact them directly for more information.

Widely sought by instititutions nationwide, he chose to come to Einstein and now he is choosing to speak at ICare4Autism’s upcoming August Conference Autism: A Global Perspective. This is the second time that we have invited Dr. Abrahams to speak after the rave reviews of his last speaking engagement at our Jun 6^th conference in 2011.

Dr. Abrahams speaks from a history of personal patient interaction and detailed experiments with a protein called Cntnap2. He writes that, “convergent lines of evidence support involvement of Contactin Associated Protein-Like 2 (CNTNAP2), a Neurexin family member, in the ASDs and related disorders of cognition.” The Abrahams lab explores the biological mechanisms by which mutations in CNTNAP2 may cause disease. They characterized animals in which the murine homolog is deleted.

Cntnap2 KO mice were found to have behavioral abnormalities reminiscent of core deficits observed in patients. Mutant mice were also seen to be hyperactive and show spontaneous epileptic seizures, both primary reactions in autistic patients. Treatment with the FDA approved drug risperidone alleviated a subset of behaviors in mutant mice. Dr. Abrahams will discuss further possible treatments and elaborate on the numerous successes that his team has encountered at Einstein.

Recent discoveries in epigenetics could soon make a clinical difference for children with attention-deficit/hyperactivity disorder, autism spectrum disorder, and other conditions, according to an expert.

The implications go beyond targeting treatment for an individual child in your practice based on a specific genetic mutation, Dr. Hakon Hakonarson, director of the center for applied genomics at the Children’s Hospital of Philadelphia, said at a pediatric update sponsored by Miami Children’s Hospital. Recent advances point to gene alterations that modify shared pathways, so the potential for wider application beyond ADHD and ASD — such as unexpected discoveries related to pediatric neuroblastoma — is a real possibility.

Dr. Hakonarson is a member of ICare4Autism’s Advisory Council and will be speaking about the gene networks underlying autism targeted for therapeutic intervention at the upcoming ICare4Autism International Autism Conference being held in Israel.

Hakon Hakonarson, M.D., Ph.D., is an associate professor of Pediatrics at The University of Pennsylvania School of Medicine.  He is a physician-scientist and director of The Children’s Hospital of Philadelphia’s Center for Applied Genomics (CAG), a high-throughput highly automated genotyping facility founded to identify the genetic causes of complex medical disorders in children, such as autism and cancer, with the objective of developing new therapies.

Dr. Hakonarson has an extensive track record in human genetics and has developed an international reputation amongst his peers. He has served previously in several senior posts in the biopharmaceutical industry, including as the director of Inflammatory and Pharmacogenomics Research and the vice president of Clinical Sciences and Development and CSO.

Dr. Hakonarson has also been the principal and co-principal investigator on several NIH-sponsored grants, and he has published numerous high-impact papers on genomic discoveries and their translations in some of the most prestigious scientific medical journals, including Nature, Nature Genetics and The New England Journal of Medicine.

Time Magazine listed Dr. Hakonarson’s autism gene discovery reported in Nature, 2009, among the top 10 medical breakthroughs of that year. With over ten years of experience in pioneering genomics research and genome-wide mapping and association studies, Dr. Hakonarson has intimate knowledge of the complexities of large-scale genomics projects and has put together the necessary infrastructure and workflow processes to unravel these complexities.

The daily encounters and friction between the staff of therapists and the families of children with special needs (and sometimes also with the extended family) are often obscured within the obligations of rather complicated professional and mental challenges.

The family of the special needs child – who face a tremendous financial burden on top of the emotional burden they already bear – loses its privacy; they find themselves exposed, against their will, to the team of therapists. Often there are sensitive situations which cannot be hidden, and sometimes the family encounters open or latent criticism. The therapists also find themselves privy to the difficult emotional situation of the family members; crises in the relationships between the child’s parents; and complicated ethical problems: all of which while they are supposed to be providing professional and appropriate treatment for the child with whom they are working.

Inbar Konforti will be speaking about bridging the gap between families and therapists in home-based ABA at the upcoming ICare4Autism International Autism Conference in Israel.

The presentation will cover how parents and family members should be supported and involved in the treatment process, the difficulties experienced by the parents of children with special needs during such complex treatment and the difficulties experienced by the therapists.  She will also discuss how to optimize the effectiveness in applying such a home involvement program.

Inbar Konforti is the founder and Director of the Refael Center (www.merkaz-refael.co.il) – the National Guidance Center to Train Behavioral Therapists ABA; Certified Behavior Analyst BCABA, with 12 years’ experience working with children suffering from autism and delayed development. She is a graduate of the University of Tel Aviv for certification studies in Applied Behavioral Analysis. BA (Honors) in Special Education from Bar Ilan University. Inbar Konforti is a lecturer on ABA at various locations in Israel, instructor of the Home-Based Program, and programs designed to integrate children suffering from autism and delayed development into schools and kindergartens.

Dr. Eli Hatchwell is a member of ICare4Autism’s Advisory Council and will be speaking at ICare4Autism’s International Autism Conference in Jerusalem this August.  He will be speaking about the heritability of autism and will discuss the recently completed project he was involved with which discovered many novel genes in connection with autism.

Dr. Hatchwell’s clinical and technical expertise in investigating human genetic disorders led him to recognize early on that human genetic diversity was grossly underestimated, there was a critical need to comprehensively understand the vast spectrum of normal genetic variation in the population and that rare variants are largely responsible for causing common disease – the underlying principles of the genetic biomarker discovery technology of Population Diagnostics.

He is recognized as a key collaborator in the development of one of the first genome-wide BAC-based comparative genomic hybridization (CGH) microarray platforms and remains at the forefront of cytogenetic and genome analysis through early adoption of leading edge technologies. Dr. Hatchwell collaborates with human genetics researchers worldwide, is a coauthor on numerous peer-reviewed articles, encompassing both clinical genetics and genome technologies, and is senior editor of a book series aimed at educating medical specialists on genetic principles and practices.

Dr. Hatchwell is also a certified Medical Geneticist (UK) with many years of experience in clinical practice. He received his medical degree from the University of Cambridge, his DPhil in Molecular Genetics from the University of Oxford, and was a Wellcome Advanced Clinical Training Fellow. He also holds a degree in Mathematics from the Open University (UK).

His goal is to get together as many genes to formulate tests that are as comprehensive as possible so that autism could be diagnosed medically before clinically. He is also interested in matching genetic causes of autism to potential therapeutic interventions. He believes these complex genetic disorders, will eventually be found to be amalgams of very a variety of very rare disorders.

Dr. Hollander will be speaking at the upcoming ICare4Autism International Autism Conference on the Neuropsychopharmacology of Oxytocin and Inflammation in ASD.  He is also receiving Global Autism Research Award for his breakthrough research in autism treatment at the ICare4Autism Fundraising Gala on Thursday, 7th of June, 2012.

The research, which included 37 high-functioning adults with, mainly diagnosed with Asperger’s syndrome, followed participants for 12 weeks. Taking fluoxetine doubled the chances that a patient would show overall improvement, measured by their clinicians. Half of the participants taking fluoxetine had significant reductions in obsessive-compulsive symptoms, compared with 8% taking placebo.

“Repetitive behavior is a core symptom of the illness,” says lead author Dr. Eric Hollander, medical director of the Autism and Obsessive-Compulsive Spectrum Program at Montefiore Medical Center in New York, explaining that “from a very early age, these children have rituals and routines. For example, they like to line up their toys and they get very bent out of shape if there is any deviation.”

A previous, larger study of a similar medication, citalopram, in children with autism did not find a reduction in repetitive behaviors, but the drug did reduce irritability and was superior to placebo among children who had the highest levels of irritability. Irritability can sometimes lead to repetitive behaviors because people wit autism often engage in these activities to self soothe.

Both fluoxetine and citalopram belong to a class of antidepressants known as selective serotonin reuptake inhibitors, or SSRIs. Prior research on SSRIs in people with autism has also looked at fluvoxamine and found a reduction in repetitive behavior in adults but not children. It is not known if the differences between these studies are due to differences between the medications or other factors.

Obsessive behaviors may also arise in people with autism in response to the stress or discomfort of unpredictable situations. “Many of these individuals have expectations for what’s going to happen, and if there is an unexpected deviation, they experience a lot of discomfort and then they do all these kinds of behaviors,” says Hollander. That’s why people with autism may obsessively avoid locations where they previously experienced discomfort, for example, or they may engage in a repetitive habit like washing, checking, counting, touching or tapping.

When taking fluoxetine, Hollander says, “Patients acknowledge experiencing less discomfort. They’re more able to go outside their comfort zone and to better resist their habits and rituals.” One participant in Hollander’s study was previously too anxious to take the subway or eat in a restaurant, but, when taking fluoxetine, was able to tolerate these unpredictable environments.

Hollander notes that the findings were statistically significant and clinically meaningful. “The clinicians could tell that people were doing better not only in terms of OCD symptoms but overall distress and ability to function.”

Read more: http://healthland.time.com/2011/12/05/prozac-may-reduce-symptoms-of-autism-in-adults/#ixzz1toOkty7N

ICare4Autism is holding a very special gala reception on Thursday, 7th of June, 2012.  The gala is in honor of Dr. Eric Hollander, Director of the Autism Spectrum Disorder Program at Montefiore Medical Center/Albert Einstein College of Medicine.

Attendees will also have the opportunity to learn more about plans for world’s first Global Autism Center, which will open on a five acre campus on Mt. Scopus in Jerusalem, in 2015.

The Suggested Donation is $500.  You can RSVP and see more information about the event by clicking here.

Dr. Hollander, who chairs ICare4Autism’s International Advisory Board, will receive ICare4Autism’s coveted Global Autism Research Award for his breakthrough research in autism treatment.

Dr. Hollander received his B.A. from Brandeis University (1978), and his M.D. from SUNY Downstate Medical College, Brooklyn (1982).   He completed his internship in Internal Medicine at Mt. Sinai Hospital (1983), residency and chief resident in psychiatry at Mt Sinai School of Medicine (1986), and his NIMH research fellowship at Columbia University College of Physicians and Surgeons (1988). He was appointed Associate Professor of Psychiatry at Columbia University College of Physicians and Surgeons.  He joined the faculty of Mount Sinai School of Medicine in 1993, and was the Esther and Joseph Klingenstein Professor and Chair of Psychiatry at the Mount Sinai School of Medicine.

Dr. Hollander has served as the principal investigator for a number of federal grants, including the NIH Greater New York Autism Center of Excellence, the NIMH Research Training Grant in Psychopharmacology and Outcomes Research, and an FDA funded multicenter treatment trial of pediatric body dysmorphic disorder. He was the principal investigator of the autism Clinical Trials Network, and Chair of the eight centers NIH STAART Autism Steering Committee.  He is involved in research on the neuropharmacology, neuropsychiatry, functional imaging, and treatment of obsessive-compulsive disorder, impulsive/aggressive personality disorders, obsessive-compulsive-related disorders such as body dysmorphic disorder, pathological gambling, and autism.

Dr. Hollander has received a Research Scientist Development Award from the National Institute of Mental health to investigate the psychobiology of obsessive-compulsive and related disorders.  He has received orphan drug grants from the Food and Drug Administration to study new treatments for body dysmorphic disorder, child/adolescent autism, and adult autism, and a grant from the National Institute of Drug Abuse for a study on the neurobiology of pathological gambling.  He has received several grants from the National Institute of Mental Health, and the National Institute of Neurological Disorders and Stroke, to develop treatments for borderline personality disorder, adolescent body dysmorphic disorder, and autism.  Dr. Hollander has received two national research awards from the American Psychiatric Association and a Distinguished Investigator Award from the National Alliance for Research in Schizophrenia and Depression.

Overall, they found autism had been diagnosed in 10 percent to 11 percent of full siblings and 5 percent to 7 percent of half-siblings.

The new finding may not be a surprise – given that half-siblings share about 25 percent of their genes – but provides new clues to how autism is inherited.

The study included more than 5,000 U.S. families enrolled in a nationwide autism registry in which there was a child with autism and at least one other sibling. Included were 619 families with at least one maternal half-sibling, meaning the children shared the same mother but not the same father. The researchers compared autism recurrence among the half-siblings to the rate among the full siblings.

The researchers also looked at half-siblings in a group of St. Louis families to try to replicate the findings from the larger study.

“We found that autism risk for half-siblings is about half of what it is for full siblings,” principal investigator Dr. John Constantino, director of child and adolescent psychiatry at the Washington University School of Medicine in St. Louis and psychiatrist-in-chief at St. Louis Children’s Hospital, said in a university news release.

“Most of the half-siblings we studied had the same mothers. Given that half of the risk of transmission was lost and half was preserved among those maternal half-siblings, mothers and fathers appear to be transmitting risk equally in families in which autism recurs,” Constantino said.

The findings also suggest that in many families, the transmission of autism from parents to children is the result of the effects of many genes, with each contributing a small proportion of the risk, he said.

The study was published online April 16 in the journal Molecular Psychiatry.

Sources:

J N Constantino, A Todorov, C Hilton, P Law, Y Zhang, E Molloy, R Fitzgerald, D Geschwind. Autism recurrence in half siblings: strong support for genetic mechanisms of transmission in ASD. Molecular Psychiatry, 2012; DOI:10.1038/mp.2012.9

Washington University in St. Louis (2012, April 17). Study of half siblings provides genetic clues to autism. ScienceDaily. Retrieved April 23, 2012, from http://www.sciencedaily.com­/releases/2012/04/120417143849.htm

Attendees at past ICare4Autism International Autism Conference

On August 1-2, 2012, more than 1,500 leaders in autism research, educationand policy from every continent will gather in Jerusalem, Israel, for ICare4Autism‘s 2012 International Conference, “Autism: A Global Perspective“.

Dr.Joshua Weinstein, CEO & Founder indicated that the, “Conference will highlight groundbreaking research into the causes and treatments of Autism Spectrum Disorders, and serve as a catalyst for powerful new collaborations to tackle the global autism crisis”.

Students from around the world are invited to present their autism research at a poster session. One poster will be selected by the review committee to receive a scholarship to attend the Conference.  The scholarship will cover travel, hotel accommodations and conference registration fee. The scholarship winner will also be invited to participate on one of the Conference panels. The Poster Session consists of physical displays (aka posters) of information shown during a 60-90 minute session, with presenters standing by their poster reporting empirical research and pilot projects for future research.  Attendees have the opportunity to speak with the presenters about their work.

Dame Stephanie Shirley, The British Government’s Founding Ambassador for Philanthropy, and Chairman of the Shirley Foundation, will deliver the Keynote Address and The First Lady of Panama Mrs. Marta Linares de Martinelli will be giving opening remarks.

They will be joined by distinguished researchers and practitioners from more than 20 countries who will unveil their latest biomedical discoveries andeducational innovations.

Groundbreaking biomedical research will be presented; notably Henry Markram, Ph.D, the Director of Blue Brain Project, Coordinator of the Human Brain Project and Professor at Swiss Federal Institute for Technology (EPFL) will present, “Prospects of using detailed brain simulations to explore possible causes and treatments of Autism”

Innovativeeducational practices will be featured in presentations by Dr. S. Mariam Aljunied (Senior Autism Specialist, Singapore Ministry of Education); Dr.Carlos MarcinSalazar (Director of the National Autism Clinic of Mexico); and Dr. Pamela Wolfberg (Director, Autism Spectrum Program,UniversityofCalifornia San Francisco). Attendees will tour the campus where ICare4Autism will open the world’s first Global Autism Research andEducationCenterin 2015.

ICare4Autism (InternationalCenterfor Autism Research & Education) is a charitable organization, founded in 2004 to catalyze breakthrough innovations in autism research, diagnosis and treatment.

Here are some of the top discoveries in Autism research released in 2012 to date;

Obesity during Pregnancy Raises Risk of Autism: Obese mothers were found to be 67% more likely than mothers of normal weight to have a child with autism, and they were more than twice as likely to have a child with another developmental disorder.

Not a Breakthrough but a Turning Point – Researchers Connect Gene Mutation to Autism Risk: A recent study of hundreds of families with autism has discovered that spontaneous mutations can take place in a parent’s sperm or egg cells that result in an increased risk of autism, and fathers are four times more likely than mothers to pass these mutations on to their children. The researchers discovered that new mutations occurred four times more frequently in sperm cells than in egg cells, and the older the father, the more likely he was to have sperm with these spontaneous mutations.

Severity of Autism Linked to Length of Pregnancy: Research suggests normal term children born with autism have less severe symptoms than children with autism who are born pre-term or several weeks late.

Autism Research Identifies Gene Abnormalities: Researchers found that genetic mechanisms that normally regulate the number of cortical neurons are abnormal in those with Autism and that the genes that control the number of brain cells did not behave in the standard way.  This probably leads to too many brain cells in some locations, such as prefrontal cortex, but perhaps too few in other regions of cortex as well.

Those with Autism have Higher Perceptual Capacity: A study revealed that people with autism have a greater than normal capacity for processing information. The research may explain way some with autism excel in highly technical fields.

Mouse Model explores Role of Serotonin in Autism:VanderbiltUniversity researchers used mice to explore how altered brain serotonin levels during development may produce long-lasting changes in behavior and impact the risk for autism. The researchers conclude that a lack of serotonin during development may lead to long-standing changes in the way the brain is wired.

New Study looks at Autism and Social Touch: A new study offers insight into why some people do not respond to physical touch and how families affected by autism may learn to show affection without overwhelming an child with autism’s senses. Yale neuroscientists imaged the brain activity of young adults while exposing them to different types of social touch.

Prenatal Exposure to Solvents Could Be Linked to Autism: According to an exploratory study exposures to lacquer, varnish and xylene occurred more often in the parents of children with Autism Spectrum Disorder compared to the parents of unaffected children.

Rare Bone Disorder Illuminates Potential Cause of Autism: A new study has found that mice with a genetic defect that models human MHE show symptoms of the three defining characteristics of autism: social impairment, language deficits, and repetitive behavior. The study used a mouse model of MHE to investigate cognitive function and points to the amygdala as the region of the brain causing symptoms of autism.

Deficiency in Mirror Neuron System Connected to Autism: Scientists found that the mirror neuron system in the ASD individuals became less activated when watching the gestures, compared to the control group. This finding adds to the evidence that deficits in mirror neuron system functioning contribute to the social deficits in ASD.

Study Shows Increased ASDs in Recent Immigrants: A study shows that children of immigrant parents particularly mothers who migrated just before or during pregnancy are disproportionately more likely to develop autism with intellectual disability. This link seems to be related to the timing of the migration rather than complications in childbirth.

Low Birth Weight Linked to Autism Spectrum Disorders: After studying 3,715 pairs of twins the researchers found that lower birth weight more than tripled the risk for autism spectrum disorder in identical twin pairs in which one twin had ASD and the other did not.

Another Autism Suspect Eliminated: Mercury: Mercury levels in urine did not differ between children with autism and controls, even after the figures were adjusted for factors such as urine concentration and body mass. The team also found no difference in the levels of other heavy metals such as lithium, manganese, and copper.

Gene Mutation in Autism Causes Hypersensitivity: A study has found that the loss of a specific mutated gene in the auditory cortical neurons – the powerhouses of the sound-processing center – causes hypersensitive to sound.

Researchers find Uncommon Bacteria in Children with Autism: Researchers atColumbiaUniversity have found that an uncommon bacterium exists in the walls of intestines of children with autism, but not those who do not have autism.

Study Finds Autism Linked to Parental Age: A study of Danish families found that children born to a parent over age 35 are at greater risk of developing an autism spectrum disorder — but the researchers are confused as why this is and why the risk is the same whether just one or both parents are older.

Autism Causes: Another Suspect Eliminated: One of the many potential causes of autism, smoking during pregnancy, has been ruled out after a large population-based study inSweden. Overall, 19.8 percent of the children with ASD were exposed to maternal smoking during pregnancy, compared to 18.4 percent of control children.

Biological Marker for Autism Possibly Found: A recent study using a mouse model of autism proposes abnormalities in the immune system could be linked to pervasive developmental disorders. The research proposes that heightened levels of an APP fragment circulating in the blood could explain the abnormalities in immune cell populations and function – both of which are seen in some autism patients.

ICare4Autism's Founder and CEO, Dr. Joshua Weinstein and Jersualem Mayor, Nir Barkat in front of ICare4Autism's Global Research Center on Mt Scopus in Jerusalem.

On August 1-2, 2012, more than 1,500 leaders in autism research, educationand policy from every continent will gather in Jerusalem, Israel, for ICare4Autism’s 2012 International Conference, “Autism: A Global Perspective”. 

The Conference will highlight groundbreaking research into the causes and treatments of Autism Spectrum Disorders, and serve as a catalyst for powerful new collaborations to tackle the global autism crisis.

Dr.Joshua Weinstein, ICare4Autism’s Founder and CEO explained that “Thanks to the latest advances in research and practice, autism and hope are no longer mutually exclusive, but the rapidly increasing rate of autism incidence represents an urgent call to global action. The time to act is now.”

Dame Stephanie Shirley, The British Government’s Founding Ambassador for Philanthropy, and Chairman of the Shirley Foundation, will deliver the Autism: A Global Perspective Keynote Address.

She will be joined by distinguished researchers and practitioners from more than 20 countries who will unveil their latest biomedical discoveries andeducational innovations.

The latest biomedical research will be presented by Dr. Eric Hollander, Chairman of the ICare4Autism Advisory Council  and Director of the Autism Spectrum Program at New York’s Albert Einstein College of Medicine/Montefiore Medical Center (Neuropsychopharmacology of Oxytocin and Inflammation in ASD); Dr. Randi Hagerman, Medical Director of the M.I.N.D. Institute/University of California Davis (New Initiatives in Autism Research and Practice); and Dr. Hakon Hakonarson, Children’s Hospital of Philadelphia Center for Autism Research (Gene Networks Underlying Autism Targeted for Therapeutic Intervention).

Policymakers including Juan Carlos Brandt (Chief, Advocacy, Department of Public Information, United Nations) and Eileen Hopkins (Expert Advisor to the World Health Organization on Autism) will share insights into challenges posed by the rising incidence of autism worldwide. 

Innovative and effective educational practices will be featured in presentations by Dr. S. Mariam Aljunied (Senior Autism Specialist, Singapore Ministry of Education); Dr. Carlos Marcin Salazar (Director of the National Autism Clinic of Mexico); Drs.  Tamar Weiss, Eynat Gal and Nirit Bauminger (Bar-Ilan University, Israel); and Dr. Pamela Wolfberg (Director, Autism Spectrum Program, University of California San Francisco). Attendees will tour the campus where ICare4Autism will open the world’s first Global Autism Research andEducationCenter in 2015.

ICare4Autism (InternationalCenterfor Autism Research & Education) is a New York-based charitable organization, founded in 2004 to catalyze breakthrough innovations in autism research, diagnosis and treatment.  For information:  www.ICare4Autism.org