ADHD, Autism & 22q
ADHD, Autism & 22q
This book is about a neighborhood drug company that consisted of three couples. They joined together to help develop a drug that could reverse the consequences of the genetic problems causing ADHD, autism and a rare disease called 22q, for a substantial portion of the children who suffer from these three diseases. With the help from several other people on Dr. Hakonarson’s team, they were able to complete a clinical trial to prove that their drug would be safe and effective in treating the children who had the genetic defect.
This accomplishment is a prime example of President Obama's Precision Medicine Initiative because it provides a therapy based upon genetics that targets subgroups of the population that share the same mutation, even though they have different diseases. The discovery described in this book could improve the lives of millions worldwide.
The discovery was possible because the Children's Hospital of Philadelphia hired Dr. Hakonarson to establish a genetics laboratory and a biobank that collected an enormous number of DNA samples. Research conducted on these samples provided the clue to the genetic defect causing the diseases. The principal scientist, Dr. Hakonarson, found a drug that could reverse the consequences of the mutation causing the diseases.
This book describes how the clinical trial was conducted and the results of the clinical trial. Dr. Hakonarson, with the assistance of the other members of the neighborhood drug company and together with several scientists on his team, was able to provide a proof of concept that the drug would be effective.
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This book gives HOPE for treatment for ADHD, Autism, 22q and other diseases in the very near future.,
I am amazed at how the author has been able to educate himself on the medical science and present it in a language that is easy to understand.
The book is both professional and personal and "organized like a collection of short stories, with all the stories being intertwined and interconnected."
Dave Moskowitz has a doctorate in philosophy and I think that shines through the book, in how he sees things and presents them to us. I especially like this quote:
"Our lives are influenced by three factors, two of which are beyond our control. We start life with a genetic code that influences virtually everything that we do and become. Along the way, we make decision after decision. The third element is chance, random events, situations and limitations upon our choices that are outside influences on our lives."
I find this book a great read and very informative and I highly recommend it.
A good read about entrepreneurship and the twists and turns of modern medicine.,
I always imagined drug discovery as being the exclusive purview of giant pharmaceutical companies with thousands of employees and offices around the world. This story of a few friends who put together a tiny company and managed to produce treatments on the bleeding edge of medical science is fascinating.
Out with the garage startups of the 20th century, in with the neighborhood drug companies of the 21st!
Read this book!,
This is an amazing book and is written by an amazing person who has worked hard to study human genetics. David has taken so much time writing this book and it is definitely a book worth reading.
The following diseases can have the same underlying genetic mutation that can be treated through similar targeted medicines. The descriptions below are for general informational purposes and are not intended to diagnose or indicate treatment.
ADHD (attention deficit hyperactivity disorder) is the most prevalent childhood condition and the most common pediatric neurodevelopmental psychiatric disease.
Persons with ADHD have difficulty staying focused (on task) and paying attention. They are easily distracted, miss details, forget things and frequently switch from one activity to another. They often become bored with a task after only a few minutes. They have difficulty organizing and completing a task. They struggle to follow instructions. They often do not finish or turn in homework assignments. They cannot process information as quickly and accurately as other children.
ADHD children are constantly in motion. They fidget and move around in their seats. They cannot sit still at home, in restaurants or at school. They touch and play with everything, even in stores when they are told that they cannot touch the merchandise. ADHD patients cannot always control their behavior.
Children with ADHD are impulsive and impatient. They cannot wait their turn. They often interrupt conversations or games. They offer inappropriate comments, act without thinking and do not restrain their emotional responses.
ADHD patients frequently are very excitable. They will often be functioning at a sub-normal developmental level and frequently engage in negative social behavior.
It is common for children with ADHD to exhibit psychiatric conditions. This could include difficulty with learning, disruptive behavior, multiple intense mood swings, heightened anxiety, depression and inappropriate explosive outbursts.
Autism is an umbrella term that refers to a spectrum of disorders (autism spectrum disorder, or ASD). ASD is not a single disease. It is a combination of varying degrees of symptoms. Hence, patients are viewed as being located on a gradient of severity, being more or less disabled than the other persons who are diagnosed as being autistic.
There are three sub-categories that can be outlined. One group of autistic children is classified as exhibiting childhood disintegrative disorder. These patients are generally diagnosed between two and ten years of age. They have difficulty in social interaction, communication and behavior.
A second sub-category would be Asperger syndrome (sometimes referred to as high-functioning autism). Similar to other ASD patients, children with Asperger syndrome have difficulty with social interaction and responsive behavior. They exhibit repetitive behavior. They have a limited range of interests. Their motor development may be delayed, but they do not exhibit the language difficulty that other ASD children demonstrate.
The third sub-category is a catchall characterization for all the other autism-positive patients and they are referred to as exhibiting pervasive developmental disorder (PDD). Issues included in this category would be problems with communication, both verbal and non-verbal. Other characteristics would be difficulty understanding and responding to humor, subtle jokes, sarcasm, innuendo; unwillingness or inability to take their turn or not waiting for their turn; repetition of words, phrases, or sounds; speaking at inappropriate times and not allowing others to respond; difficulty in remaining engaged in conversation; and a variety of behavioral issues.
One of the difficulties which 22q presents is the enormous variety of symptoms. The disease can affect virtually every system of the human body. There are approximately 180 symptoms of 22q.
The degree of severity of the ailments affecting 22q patients has a wide range. Some individuals may never realize that they have the disease; it can be that mild. They discover it only when they have a child with a more severe version of the malady.
The symptoms may be quite serious, such as congenital heart disease that requires surgical intervention soon after birth. Some of the symptoms are visible, such as a cleft palate. Difficulty in feeding, breathing problems and developmental delay can also be early signs of 22q.
There are five diseases that are associated with 22q: DiGeorge Syndrome; Velocardiofacial Syndrome (VCFS); Conotruncal Anomaly Face Syndrome (CTAF); Optiz G/BBB Syndrome and Caylor Cardiofacial Syndrome.
NeuroFix is the polar opposite of a large pharmaceutical company. It has never had more than two shareholders, two members of the board of directors and two corporate officers. It has never had a single employee. It has never paid a salary. It not only never owned a building, but it never even had an office (it did have a registered office because all corporations have to have a registered office but this was just a mail drop). It never had its own web page or telephone number. It never even had a single piece of stationery.
But neuroFix did have behind it a support group. It had what came to be called the Neighborhood Drug Company. The Neighborhood Drug Company is an unincorporated social club, cheering section and advisory panel. It has six members. It holds no formal meetings, has no minutes taken, no officers, and it is as informal as a neighborhood barbecue (of which it had many). Here are the six members.
Maria Ivarsdottir (Hakon’s wife; in Iceland, wives do not take their husband’s last name but retain their maiden name) and Hakon Hakonarson, Rita and Phil Harper and Marian and David Moskowitz became the Neighborhood Drug Company in 2013.
From the inception of neuroFix to its dissolution, David Moskowitz has been one of the two directors. Phil became the other director in 2013, when he also became the president, CEO and chairman of the board. Hakon has always been the guiding force, the chief scientific advisor, and he was the sole shareholder until Phil became the second shareholder.
During the clinical trial starting in January 2015 and continuing until May 2015, the three couples that are the members of the Neighborhood Drug Company met often for dinner on the weekend (usually Sunday night) at either the Moskowitz house or the Hakonarson house to hear from Hakon how the clinical trial was proceeding. Each of the six participants was excited about the prospect that the drug being tested, NFC-1, was achieving, on a weekly basis, astonishing results in improving the lives of the patients taking the drug.