In two recent reports , Parkinson’s researchers describe findings that may lead to new ways of detecting early signs of the disease and a potential new treatment.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22635" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="Brain Logo" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" />


In the first case, researchers in Scotland are looking at the possibility that even before a patient begins to have obvious symptoms of the disease, their body chemistry may change in a way that can be detected through a difference in<a href="http://www.bbc.com/news/uk-scotland-34583642"> how they smell</a>.
While it’s been long known that a loss of smell is a common symptom for those with Parkinson’s, being able to detect whether someone has the disease through odor is a new idea.
The study was prompted after the wife of a Parkinson’s patient in Scotland, Joy Milne,   noticed that people with Parkinson’s had the same distinct smell she’d noticed in her husband before he began to show signs of the disease.
She mentioned this to a scientist in passing who was intrigued enough to test her in a study at the <a href="http://www.crm.ed.ac.uk/research/diseases-we-study/parkinsons-disease" target="_blank" rel="noopener noreferrer">Edinburgh University</a>. 
There and at the University of Manchester, researchers found that Joy could indeed discern between people with Parkinson’s and those without the disease by smelling t-shirts they’d worn. In fact she was even able to detect the disease in one of the “control” subjects eight months before they were diagnosed. Now they are working on studying why that might be.

<iframe loading="lazy" width="640" height="360" src="https://www.youtube.com/embed/CCZ5rFs7El4" frameborder="0" allowfullscreen="allowfullscreen"></iframe>


Researchers believe that changes in the skin in the early stages of Parkinson’s produces a distinct smell that could be used for early detection. They hope to find the molecular signature responsible and then develop a simple test to detect it. This could help in early detection of the disease.
23andMe Parkinson’s research community manager, Paul Cannon, said that this is a potentially important finding since
<div id="attachment_22380" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22380" class="size-medium wp-image-22380" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/paul-300x235.jpg" alt="Paul Cannon, 23andMe's Parkinson's Research Community manager." width="300" height="235" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-300x235.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-768x602.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-1024x802.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-880x689.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-1180x924.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul.jpg 2016w" sizes="auto, (max-width: 300px) 100vw, 300px" />Paul Cannon, 23andMe&#8217;s Parkinson&#8217;s Research Community manager.</div>
reliable early detection of the disease is key both to improve the management of patients as well as enable the clinical development of treatments that slow the progression of the disease.
In a second intriguing study, researchers at Georgetown University found a potentially effective<a href="https://www.forbes.com/sites/emilymullin/2015/10/21/could-a-cancer-drug-reverse-parkinsons-disease/"> new treatment for Parkinson’s</a> symptoms using a drug approved for those with leukemia.
In a small study designed to look at how well Parkinson’s patients tolerated the drug, nilotinib, researchers found that low doses of the drug resulted in dramatic improvements in cognition, motor function and even some non-motor function symptoms like constipation. Researchers hypothesize that low doses of nilotinib may help reduce the build up of misfolded proteins in the brain.
Paul noted that these findings are intriguing and encouraging, but that this was a small uncontrolled study and much more research is needed to know how important a treatment this will ultimately be.
To learn more about 23andMe&#8217;s Parkinson&#8217;s Research Community go <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">here</a>.

23andMe Blog

23andMe Blog Team

New Developments in Parkinson’s Diagnosis and Treatment

Seth McFarlane brought the humor, Pharrell Williams the glam, and this year’s winners of the<a href="https://breakthroughprize.org/"> Breakthrough Prize</a> brought the wonder of science.
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<div id="attachment_23180" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23180" class="wp-image-23180 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/11/Breakthrough-Winners-300x200.jpg" alt="Image courtesy of the Breakthrough Prize. Credit: GettyImages" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/11/Breakthrough-Winners-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/11/Breakthrough-Winners.jpg 574w" sizes="auto, (max-width: 300px) 100vw, 300px" />Breakthrough Prize winners at the ceremony. Image courtesy of the Breakthrough Prize. Credit: GettyImages</div>
At a glitzy awards ceremony broadcast live from Silicon Valley Sunday night on the National Geographic Channel, the winners were singled out for their achievements in fields ranging from mathematics, to fundamental physics and life sciences.
“By challenging conventional thinking and expanding knowledge over the long term, scientists can solve the biggest problems of our time,” said Facebook’s Mark Zuckerberg, who with his wife Priscilla Chan helped establish the prize along with Google’s Sergey Brin, Jack Ma, of Alibaba, Internet entrepreneur Yuri Milner, and 23andMe’s very own Anne Wojcicki.


“The Breakthrough Prize honors achievements in science and math so we can encourage more pioneering research and celebrate scientists as the heroes they truly are,” Zuckerberg said.


Now in its third year, the prize turns the table on celebrity culture by having stars hand out awards to the luminaries who have made outstanding contributions to math and science. This year’s awards were no different with Academy Award winners Russell Crowe and Hillary Swank, as well as pop singer Christina Aguilera, among those handing out the trophies.


“Tonight we put the spotlight where it belongs,” said Aguilera.
<div id="attachment_23181" style="width: 244px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23181" class="wp-image-23181 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/11/Anne-234x300.jpg" alt="Anne" width="234" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/11/Anne-234x300.jpg 234w, https://blogcms.23andme.com/wp-content/uploads/2015/11/Anne.jpg 447w" sizes="auto, (max-width: 234px) 100vw, 234px" />23andMe&#8217;s CEO and co-founder Anne Wojcicki. Photo courtesy of The Breakthrough Prize. Photo credit: Getty Images.</div>
This year’s prizes included awards to the five teams of more than one thousand scientists from around the world that have made new discoveries around the oscillation of neutrinos, one of the fundamental particles of the universe; as well as an award to mathematicians who’ve solved the long standing problems of symplectic geometry, Riemannian geometry and differential geometry.


But for us here at 23andMe, we were particularly interested in the awards handed out for work in the life sciences.
“This year’s laureates have all opened up ways of understanding ourselves,” said Anne, 23andMe CEO and co-founder. “In the life sciences, they have pushed forward new ideas about Alzheimer’s, cholesterol, neurological imaging and the origins of our species. And for that we celebrate them.”


Among the winners were Svante Paabo, of the Max Planck Institute for Evolutionary Anthropology, who pioneered the sequencing of ancient DNA. His work sequencing the Neanderthal DNA has helped change our fundamental understanding of human evolution.
Also recognized for his achievement was <a href="https://www.ucl.ac.uk/rlweston-inst/people/john">John Hardy</a>, of University College London, for discovering the variants in the Amyloid Precursor Protein (APP) gene that causes early onset Alzheimer’s disease. The discovery has helped give us greater insight into how the accumulation of APP-derived beta-amyloid peptide leads to Alzheimer’s and will help map out ways to better treat the disease.


And finally, also particularly inspiring for the researchers at 23andMe is the work of awardee <a href="http://profiles.utsouthwestern.edu/profile/13232/helen-hobbs.html">Helen Hobbs</a>, of the University of Texas Southwestern Medical Center and Howard Hughes Medical Institute. Dr. Hobbs was singled out for her discovery of human genetic variants in the gene PCSK9 that trigger the clearance of cholesterol and other lipids and protect against heart disease. The discovery of this protective variant has led to the development of two new drugs that are saving people’s lives.
In all a combined $21.9 million was awarded to the winners.
To find out more or to see the full list of winners <a href="https://breakthroughprize.org/News/29">go here</a>.

Science’s Rock Stars

By looking at data on when boys’ voices first broke as a way to time the onset of puberty, researchers at <img loading="lazy" decoding="async" class="alignright size-medium wp-image-23127" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/Boys-Choir-300x300.jpeg" alt="Boys Choir" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/Boys-Choir-300x300.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Boys-Choir-150x150.jpeg 150w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Boys-Choir-271x271.jpeg 271w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Boys-Choir-372x372.jpeg 372w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Boys-Choir.jpeg 445w" sizes="auto, (max-width: 300px) 100vw, 300px" />the University of Cambridge have completed a first-of-its-kind <a href="https://www.nature.com/ncomms/2015/151109/ncomms9842/full/ncomms9842.html" target="_blank" rel="noopener noreferrer">genetic study</a> and found that for both boys and girls puberty is influenced by many of the same genetic variants.
“Our study shows that although there are obvious physical differences in pubertal development between boys and girls, many of the underlying biological processes governing it are the same,” said study lead author <a href="http://www.mrc-epid.cam.ac.uk/people/john-perry/" target="_blank" rel="noopener noreferrer">Dr. John Perry,  </a> of the <a href="http://www.mrc-epid.cam.ac.uk/" target="_blank" rel="noopener noreferrer">Medical Research Council (MRC) Epidemiology Unit</a> at the University of Cambridge.


The <a href="https://www.nature.com/ncomms/2015/151109/ncomms9842/full/ncomms9842.html" target="_blank" rel="noopener noreferrer">study</a>, published in Nature Communications, is the biggest large-scale genetic study of puberty to look at both young men and women together. Part of what is unique about this study is the novel way researchers determined the age of puberty in young men.
Using data from 55,000 male 23andMe customers who consented to research, the authors of the study used the participants recollection of their age when their voice first broke as a marker for puberty and found genetic variants associated with earlier onset of puberty in boys.


“(The study) also shows that the age when men’s voices break, even when recalled decades after the event, is an informative measure of puberty timing” co-author <a href="http://www.mrc-epid.cam.ac.uk/people/felix-day/" target="_blank" rel="noopener noreferrer">Dr. Felix Day</a>, who is also at the MRC Epidemiology Unit at the University of Cambridge.


Up until now most of scientists understanding of the genetics of puberty came from studies that look at either rare disorders in young men, or studies that focused on young women alone. This novel way of looking at puberty in young men – asking men to recall the age they were at when their voices changed – allowed researchers to compare the genetic influence on the timing of puberty in both sexes.
What they found was surprising, more than a dozen genetic variants that influence the timing of puberty in women, also influence the timing of puberty in men.
In addition, the researchers also found that some of those genetic variants are correlated with conditions developed later in life such Type II diabetes, cardiovascular disease, obesity and fasting insulin levels.


The researchers picked voice breaking to gauge the onset of male puberty because it is a distinct development milestone in young men that happens when their larynx lengthens due to exposure to more male hormone.
After they looked at the genetic associations among men for onset of puberty, the researchers then compared that data to information from more than 180,000 women who were part of a consortium study, called <a href="http://www.reprogen.org/" target="_blank" rel="noopener noreferrer">ReproGen</a>, as well as from the <a href="http://www.1000genomes.org/home" target="_blank" rel="noopener noreferrer">1000 Genomes Project,</a> and data on puberty from more than 76,000 women who are also 23andMe customers and consented to research.
What they found was that of the 14 genetic variants found to be associated with puberty, five had never before been associated with puberty.
The nine other variants had been previously identified as associated with the timing of puberty in young women, but this was the first time any researchers found an association for the timing of puberty in young men.
This study is the first to quantify the strongly shared genetic basis for puberty timing between the sexes, and, according to the researchers, the results are consistent with previous studies that looked at sex-specific rare disorders of puberty.


The study also offers additional insight into the biological pathways and process of early puberty, by looking at the function of the genes and gene regions where these variants are located. For example, two of the newly found variants are located in or near the genes RORB and RXRA, which regulate cell differentiation, cell development, circadian rhythm and metabolism.
“Other studies have shown that earlier age at puberty in girls predicts higher risks for the same diseases. We now show that the same is true in men,&#8221; said <a href="http://www.mrc-epid.cam.ac.uk/people/ken-ong/" target="_blank" rel="noopener noreferrer">Dr. Ken Ong</a>, of the MRC Epidemiology Unit and a co-author of the study. &#8220;The next steps will be to understand how to prevent early puberty in boys and girls, possibly by reducing childhood overweight and obesity, or by other means.”


But he added that while many of those correlations with earlier puberty were for adverse conditions, earlier puberty was correlated with at least one favorable condition – higher bone mineral density.

Genetics found to influence puberty timing in girls and boys

<div id="attachment_22956" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22956" class="wp-image-22956 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/IMG_2762-300x203.jpg" alt="IMG_2762" width="300" height="203" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_2762-300x203.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_2762-768x518.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_2762-1024x691.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_2762-880x594.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_2762-1180x797.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_2762.jpg 1988w" sizes="auto, (max-width: 300px) 100vw, 300px" />Barbara Weir, right, with her daughter Casey.</div>
Not everyone who tries 23andMe has the same sort of reaction to his or her results as Barbara Weir.


“It’s mind boggling,” said the 87 year-old who lives in San Diego. “Next to marrying my husband and having my children it’s the most exciting thing in my life. It explains so much about me – who and what I am.”
With the help of her daughter, Casey Spaccarelli, a doctor who lives in Chicago, Barbara not only found out that she’d been adopted – something she’d never known – but she also connected with and then met her half brother in person.
“One of the big things for me is that it explains so much,” she said. “Looking back I was nothing like my family. We had different aptitudes and interests. I remember my sister once telling me ‘we’re not alike at all.’ I wanted to be like her and my family, but I just wasn’t.”
<div id="attachment_22955" style="width: 269px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22955" class="wp-image-22955 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/IMG_4728-1-259x300.jpg" alt="IMG_4728-1" width="259" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_4728-1-259x300.jpg 259w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_4728-1-883x1024.jpg 883w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_4728-1-768x891.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_4728-1-758x880.jpg 758w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_4728-1-1017x1180.jpg 1017w" sizes="auto, (max-width: 259px) 100vw, 259px" />Barbara and her brother Marvin soon after meeting for the first time.</div>
The revelation that she’d been adopted and that she had biological family, including a half brother, who had lived in the Boston area, didn’t happen all at once. It started with a lot less drama, with Casey deciding to create a family tree and look at her ancestry. She tested first with another company.
“I did it for fun,” she said.
But very quickly she discovered a lot about herself that didn’t match what she had always been told. For one, she has about a quarter Ashkenazi Jewish ancestry.
“No one in the family knew of any Jewish heritage, only German,” Casey said.
Eventually Barbara tested and it turned out that she has about 50 percent Ashkenazi Jewish ancestry. Casey tested with 23andMe thinking that perhaps the result was a mistake. It wasn’t. So she had her mother and her mother’s sister, Nancy, test on 23andMe. Her mother’s results confirmed the Ashkenazi ancestry, but her mother and Nancy didn’t have any overlapping DNA. They weren’t biologically related, according to the test.


“So I told my mom, ‘I think you may have been adopted?’” Casey said. “And she just said, ‘Oh I don’t know, maybe,’ and left it at that.”


But Casey wanted to figure this out. Fortunately she found a close relative connection in her 23andMe results with a name she didn’t recognize. So Casey contacted him. His name is Steve and she told him a little bit about herself and asked if he had any family in the Boston area, where Barbara had been born in the late 1920s.


“He said ‘my whole family is from Boston,’” Casey said.


He was open and helpful. Steve also had a lot of family history that he was willing to share with Casey, names and dates. That all became very important for Casey, who, by triangulating information, figured out that Steve’s grandfather Karl was also likely to be her grandfather, and Barbara’s father. Fortunately Steve’s uncle Marvin was still alive and they decided to talk to him.


“That got the ball rolling,” Casey said.


She knew they were close to solving this mystery. After looking at a few high school photos of Marvin and his sisters, Casey was pretty sure she’d found her mother’s biological family. A few weeks later Marvin, who grew up in Boston but now lived very close to Barbara in California, tested with 23andMe.
Bingo.
He turned out to be Barbara’s half brother.
The two arranged to finally meet. In photos they look remarkably similar with the same slim build and smiles.
“I’d never seen anyone who looked like me before,” said Barbara, surprised to be able to see family resemblances in her new-found brother and in photos of her sister.
Marvin’s father, Karl, had been a successful business owner in Boston, who had emigrated from Russia. He had a big family – Marvin, who is a year younger than Barbara, was the last of the family’s six children.
Casey still doesn’t know the circumstances of Barbara’s conception, only that she and Marvin have the same biological father, but different mothers. Barbara’s parents lived in Boston at the time she was adopted but later moved to Nashville where she grew up.


“So my mother found out she was adopted at 87 years of age,” Casey said. “It had been this huge family secret only known to her adoptive mother and the secret had died with her, until now. Until 23andMe.”


Even learning this so late in life was hugely important for Barbara. Things she wasn’t sure about in the past suddenly made sense.
“It’s amazing to learn this all at my age,” said Barbara. “I finally found out who I am.”

Who I Am

To teach his students a powerful lesson in genetics, Bryant McAllister, an associate professor of biology at the University of Iowa, poses a simple question.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23169" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/BFM_computer-225x300.jpg" alt="BFM_computer" width="225" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/BFM_computer-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2015/10/BFM_computer-768x1024.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/BFM_computer-660x880.jpg 660w, https://blogcms.23andme.com/wp-content/uploads/2015/10/BFM_computer-885x1180.jpg 885w, https://blogcms.23andme.com/wp-content/uploads/2015/10/BFM_computer.jpg 1536w" sizes="auto, (max-width: 225px) 100vw, 225px" />


“Who are you?” Dr. McAllister asks.


The answer, and the genetic tools to explore it, offer an opportunity for students to learn, not just about themselves and biology, but also a little about the scientific revolution of personal genomics.


“My idea was to utilize personal genomics to provide an opportunity for students to investigate their relationships with others through DNA analysis,” Dr. McAllister said. “I thought it would provide an unique and engaging perspective for them.”


After researching a number of personal genome testing options, he concluded that 23andMe was the best choice for his course:
“Who are you? Revelations from the Personal Genome,” which he first taught in the fall of 2014 to a small class of first-year students.
The course was open to all &#8212; without any science prerequisites or restrictions on students’ majors — and designed to be relevant for all types of students.
The 23andMe DNA kits are free to the students (costs are covered by a university budget for first-year seminars), but Dr. McAlister makes it very clear to his class that participation in genotyping is completely optional.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23170" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/ed-logo-245x300.jpg" alt="ed logo" width="245" height="300" />


“We spend the first class discussing the possible surprises that may come from doing a genetic test &#8212; such as a half sibling students never knew about or discovering unexpected ancestry composition. I feel it is my responsibility to clearly inform the students,” Dr. McAllister insisted.


He encourages students to speak with their families before deciding if they will get genotyped, and he explains the controls students have when viewing their data, such as the ability to turn off relative matching. Students have a week to decide if they would like to participate in 23andMe genotyping.
The 15-week class is set up so saliva samples are shipped to 23andMe after the second class meeting. This allows enough time for sample processing so class work with the 23andMe results starts no later than mid-way through the course.


Once the 23andMe results are returned, students trace the history of mitochondrial DNA and the Y chromosome and identify their own placement on a haplogroup tree. They study the significance of ancient genetic variants associated with Neanderthal admixture, and relate it to their 23andMe Neanderthal percentage ancestry reports.
In another activity, students consider the comparisons of SNP data against reference populations in order to determine ancestry using M&amp;M  candy.
Learn more about Dr. McAllister’s activity, <a href="https://education.23andme.org/l/where-did-my-mms-come-from/" target="_blank" rel="noopener noreferrer">“Where do my M&amp;Ms come from?”</a>
In addition to exploring their  ancestry using 23andMe results, students also study the genotype -phenotype association for traits, such as lactose intolerance and the ability to taste bitter substances. Students also discuss genome-wide association studies focused on habitual coffee consumption, a particularly relevant topic for new undergraduates adjusting to college life.
Now in its second year, this freshman seminar is receiving a lot of interest. The class filled up very quickly, and students are more informed about what they will be participating in.


This growing student awareness of direct-to-consumer genetic testing is aligned with Dr. McAllister’s other ideas on how to further student engagement and understanding of personal genomics at the University of Iowa. For example, he would like to build a community of biology and life science majors who apply their science background to learn the applications of and technology behind personal genomics.


“I think these students could be a very helpful resource for people in our local community, to help people without an academic background in biology navigate their personal genotyping results and understand their implications,” he said.


Dr. McAllister also is interested in determining whether or not the use of 23andMe, along with specific learning activities, could significantly motivate students in an introductory biology course and increase their likelihood of success.


“In my opinion, we are just scratching the surface as to how personal genotyping can be used as an effective educational tool,” he said.


Editor&#8217;s note: This is the first in a series of &#8220;Educator Spotlight&#8221; posts highlighting how educators are incorporating genetics into lesson plans. To find out more check out <a href="https://education.23andme.org/" target="_blank" rel="noopener noreferrer">23andMe For Educators</a>.

A Fresh Take on Genetics for Freshmen

Selma Spieler wished she knew more about her father.
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<div id="attachment_22922" style="width: 235px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22922" class="size-medium wp-image-22922" src="https://blog-api.23andme.com/wp-content/uploads/2015/09/Avram-and-family-225x300.jpg" alt="Selma's father Abraham and her mother Gisha &quot;Gussie&quot; and her sister Aida." width="225" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/09/Avram-and-family-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Avram-and-family.jpg 480w" sizes="auto, (max-width: 225px) 100vw, 225px" />Selma&#8217;s father Abraham and her mother Gisha &#8220;Gussie&#8221; and her sister Aida.</div>
She knew he came from Russia, was generous – regularly bringing food to neighbors and sending money to a cousin in Israel who was studying to be a doctor. And she knew her father worked hard, toiling at night in a bagel factory in Brooklyn after he immigrated to New York in the 1920s.
But there was a lot she didn’t know about him.
Before she could learn more, her father, Abraham “Avram” Leib Greenberg, died. Selma was 14. It was 1946 and at that moment it sunk in that she’d never be able to ask him about his past, about the seven siblings he left behind in Russia and Poland, or how his family was able to survive pogroms, the violence of World War I and the Russian Revolution.
Selma thought she lost all that family history with her father, a man born in the 1800s, who survived world-shattering changes that swept through Europe before he came to America. She was sure that the history of his life vanished with him. She thought that all the family he left behind was gone too, swept away in the violence that came after her father immigrated. Now in her 80s, she’d long ago given up on finding out anything more about her father and his family.
“My mother just assumed that they had all died in the Holocaust,” her daughter Risa Rubin said.


It’s an experience many Jews with family roots in Eastern Europe can relate to – large parts of their family history erased by the Holocaust and the upheaval of the Second World War.
But more than seventy years after her father died, Selma learned with the help of 23andMe bits about her father’s history that she never knew before. She and her daughter Risa discovered the fate of his siblings. Some were indeed lost in the Holocaust but others survived. And most astounding of all, for Selma and her daughter, is that using 23andMe they were able to find some of her father’s family in Israel and travel to meet them in person including meeting Selma’s first cousin Fania.


“If my mother and I had not done this we would have never known,” Risa said. “She was so emotional, she cried when she found all this out… this has been one of the most amazing experiences of my life.”


This journey of discovery started when Risa and her brother Eric joined 23andMe. Risa was interested in learning more about herself and her ancestry. And then when her mother also used 23andMe, Risa helped her connect with a previously unknown relative named Ayelet, who lives in Israel.
<div id="attachment_22924" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22924" class="size-medium wp-image-22924" src="https://blog-api.23andme.com/wp-content/uploads/2015/09/IMG_3721-300x225.jpg" alt="Risa and her cousin Ayet after meeting for the first time in Israel." width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/09/IMG_3721-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/09/IMG_3721-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/09/IMG_3721-1024x768.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/09/IMG_3721-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/09/IMG_3721-1180x885.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />Risa and her cousin Ayelet after meeting for the first time in Israel.</div>
“I noticed that my mom and Ayelet shared DNA, including a segment that was completely identical,” Risa said.


Before that moment, Risa and her brother had assumed that all of her Grandfather’s family had been killed in the Holocaust. But she quickly learned that she had dozens of living relatives on that side of her family, who mostly live in Israel. Ayelet has a brother who had already done an extensive family tree and it proved to be a goldmine for Risa and her mother. Together with the help of Ayelet, Selma’s cousin Fania and another cousin named Naomi, they began filling in the pieces of their missing tree including finding the children and grandchildren of Selma’s uncles, her father’s brothers as well as the children of her aunt. They also learned more about Abraham’s life before he came to America, and that all but four of his siblings had survived the Holocaust, many of them had immigrated to Palestine before the war or wound up in Israel after it.
Ayelet’s great grandfather was Selma’s father’s brother. Ayelet had even known of Selma’s father – his Uncle Abraham – but he’d been told that Abraham had never made it out of
Russia. Selma’s cousin, Fania, however was told that Abraham had made it out and wound up in America, but she knew little else.
Their relatives in Israel were able to offer documents, photos and family history for Selma – information about her father that she never knew.
The documents had information about where he moved in Russia and then Poland, before he immigrated to America. Her cousin Fania recognized the photo of her grandparents that Risa and Selma had brought with them. Selma also learned more about his siblings, Moshe, Haya, Isaac, Slova, Rachel, Yaakov and Shlomo.
The trip allowed Risa and her mother to connect not just with family in Israel, but others in the US and in Russia, a total of more than 50 relatives in all.
“The process of finding our family has been an amazing experience. It was bashert — meant to be,” Risa said.  
“Thank you 23andMe for finding my family.”

Meant to Be

The sobering fact about drug development is that it takes too long and costs too much money. 23andMe wants to change all that.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23144" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/Slide3-e1445883959527-300x115.jpg" alt="Slide3" width="300" height="115" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/Slide3-e1445883959527-300x115.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Slide3-e1445883959527.jpg 678w" sizes="auto, (max-width: 300px) 100vw, 300px" />
At the annual meeting of the American Society of Human Genetics this month, 23andMe computational biologist Fah Sathirapongsasuti offered some insight into how this is being done.
“It’s a well-appreciated fact among drug developers that genetic evidence can indicate success of a drug program, but until now, genetic data was hard to come by.”
In his presentation, Fah explained 23andMe’s unique drug discovery model, which has the promise of lowering the cost and accelerating the pace of drug discovery. This new model is also what is behind <a href="https://blog.23andme.com/news/23andme-therapeutics/" target="_blank" rel="noopener noreferrer">23andMe&#8217;s Therapeutics group</a>.
The current industry model isn’t working well, he said. Nine out of ten drugs deemed successful in animal studies fail in human clinical trials. And all that time and all those failures add up to staggering costs. Although there’s a<a href="http://www.nejm.org/doi/full/10.1056/NEJMp1500848"> dispute</a> about just how many hundreds of millions or billions it costs to develop a drug, no one disputes that finding new drugs is too slow and costs way too much.
But there’s another way, as Fah explained.
Simply using genome wide association studies can help improve success.
A<a href="https://www.nature.com/ng/journal/v47/n8/full/ng.3314.html"> recently published study</a> showed that starting with a GWAS could double the success rate of drug development. Another approach is to identify genetic variants that are protective and use those variants to zero in on promising drug targets. A well-known example of that approach is the work done by Amgen and Sanofi in the development of two recently approved drugs that target cholesterol-lowering variants in the gene PCSK9, Fah said.
But what makes 23andMe research model unique is its customers. So far we have more than a million, and 80 percent of them have chosen to participate in our research. They are also engaged and have shared more than 300 million data points about themselves that inform research. Our scientists can gather that information about health history, or drug sensitivity or ancestry and traits, into specific “phenotypes.”
We have more than a thousand phenotypes to work with such as phenotypes for cardiovascular and autoimmune diseases, as well as different forms of cancer and metabolic conditions, giving our researchers a tremendous resource to compare genetic information against.
That gives 23andMe researchers a huge head start, said Fah. Using that data, researchers first look at phenotypic information to find a candidate indication for genes that, in turn, can be easily targeted by antibodies. &nbsp;23andMe recently did just that with, studying 255 genes that code for cytokines and receptors, and focusing on those genes that have not yet been targeted by industry. About half of that total have not yet been used for drug targeting.
Finally screening those targetable variants in our database, our researchers found about two-dozen potential targets.
There’s a lot of additional work that goes into the process, for instance just determining whether these targets offer a plausible biological pathway that’s relevant to treating a disease.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23143" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/Slide2-300x169.jpg" alt="Slide2" width="300" height="169" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/Slide2-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Slide2.jpg 720w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Fah illustrated this by looking at IL13, a gene that encodes a cytokine secreted by T helper cells that in turn mediate allergic inflammation. Looking at the phenotypic associations for variants in IL13, 23andMe researchers found a clustering of associations around asthma, certain types of food and animal allergies as well as skin conditions like psoriasis. &nbsp;And indeed IL13 is a known target for several drugs that are currently in phase II and phase III clinical trials.
“At 23andMe, we are turning the drug discovery process on its head,&#8221; said Fah. &#8220;Traditionally a pharmaceutical company starts with a disease of interest and combs the disease pathways for drug targets. &nbsp;We start from a set of druggable molecules and use our genetic database to guide us to the disease indications. &nbsp;Because we scan across a wide spectrum of disease and traits, we can choose the most promising targets to work with.”
This is still early in this new drug discovery approach, he said.
&#8220;We feel incredibly blessed to be working with this powerful database, with our customers as partners,” Fah said.
<div style="float: center; text-align: justified; width: 640px; background-color: #eee; padding: 15px; margin-left: 10px;"><img loading="lazy" decoding="async" class="alignright size-medium wp-image-23151" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/ASHG-15-Posters.001-300x225.jpg" alt="ASHG 15 Posters.001" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/ASHG-15-Posters.001-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ASHG-15-Posters.001-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ASHG-15-Posters.001-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ASHG-15-Posters.001.jpg 1024w" sizes="auto, (max-width: 300px) 100vw, 300px" /> 
Fah was not the only 23andMe scientist at American Society of Human Genetics this year. As we do each year, 23andMe had a strong showing, and our data was included in a number of presentations. This year we had two posters that were part of the conference.</div>
<div style="float: center; text-align: justified; width: 640px; background-color: #eee; padding: 15px; margin-left: 10px;">
&#8211; &#8220;<a href="https://blog-api.23andme.com/wp-content/uploads/2015/10/nfurlotte_ASHG_2015_final_approved.pdf" target="_blank" rel="noopener noreferrer">Deep Learning and the prediction of human disease risk</a>,&#8221; by Nicholas Furlotte, Babak Alipanahi and David Hinds
&#8211; <a href="https://blog-api.23andme.com/wp-content/uploads/2015/10/ASHG2015_AaronFinal.pdf" target="_blank" rel="noopener noreferrer">&#8220;Improving haplotype phasing accuracy using many short IBD segments,&#8221;</a> By Aaron Kleinman, Eric Durand and Cory McLean
</div>

23andMe And Drug Discovery

We’re returning one more time to the story of Jessica and Alice, and how they used 23andMe to unravel a <a href="https://blog.23andme.com/23andme-customer-stories/jesss-story/">century old mystery</a>.
<div id="attachment_22174" style="width: 236px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22174" class="wp-image-22174 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/02/Phil-and-Sam-226x300.jpeg" alt="Jess's grandfather Phil and her great grandfather Sam. " width="226" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/02/Phil-and-Sam-226x300.jpeg 226w, https://blogcms.23andme.com/wp-content/uploads/2015/02/Phil-and-Sam-662x880.jpeg 662w, https://blogcms.23andme.com/wp-content/uploads/2015/02/Phil-and-Sam.jpeg 665w" sizes="auto, (max-width: 226px) 100vw, 226px" />Jess&#8217;s grandfather Phil and her great grandfather Sam.</div>

We first <a href="https://blog.23andme.com/23andme-customer-stories/jesss-story/">wrote about the story</a> back in February 2015 and again <a href="https://blog.23andme.com/23andme-customer-stories/the-other-side-of-the-story/">a few weeks later</a>, and we aren’t the only ones fascinated by it.


Scott Fisher, the host of the syndicated family history radio program <a href="http://extremegenes.com/ep-104-23andme-dna-day-and-pursuing-a-jail-break/">Extreme Genes</a>, dedicated his most recent show to their story.
Fisher has <a href="http://extremegenes.com/story-and-photos-of-two-men-switched-at-birth-in-1913-with-their-oops-fathers/">a great interview</a> with Jess, Alice, and genetic genealogist CeCe Moore, who each detail how they worked over three years to piece together a mystery that probably couldn’t have been solved any other way, and it all started when Alice tested with 23andMe.


“I took a DNA test and the results came back all the way wrong,” Alice told Fischer.


Or at least that’s what she thought.
Raised to believe she was three-quarters Irish, Alice’s ancestry results came back showing that she had 50 percent Ashkenazi Jewish ancestry. This sparked what turned into years of trying to figure out if this was all a mistake or something else. Her mother and father weren’t around to ask anymore, so Alice eventually had all seven of her siblings tested with 23andMe.
They all showed the same result. They were half Ashkenazi.
How that was possible was the mystery to Alice, so she began working to solve it. She enlisted the help of CeCe, no stranger of difficult family mysteries, and the two got to work.
“There are unexpected surprises in pretty much every case I work on,” said CeCe.


This one was no different, and CeCe and Alice dove deeper looking at paper records and came up with some theories. If it was just Alice’s results that were different, perhaps the difference could be explained by a single infidelity, but everyone in her family had the same ancestry profile. Obviously something about their family history was different than they suspected. Alice’s father, James, had had a tough upbringing. He knew his parents but had been raised in an orphanage.
Alice began zeroing in on her father and the possibility that   he was switched at birth. But how could you figure something like that out?

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				Alice&#8217;s grandfather, John, who is believed to be Jess&#8217;s great-grandfather.
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				<img loading="lazy" decoding="async" width="150" height="150" src="https://blogcms.23andme.com/wp-content/uploads/2015/10/filename-1-150x150.png" class="attachment-thumbnail size-thumbnail" alt="" aria-describedby="gallery-1-23095" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/filename-1-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2015/10/filename-1-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2015/10/filename-1-372x372.png 372w" sizes="auto, (max-width: 150px) 100vw, 150px" />
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				Jess&#8217;s Grandfather, Phil.
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				Jess&#8217;s great-grandfather, Sam, who is believed to be Alice&#8217;s grandfather.
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				Alice&#8217;s Father, James.
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He was born at Fordham hospital in the Bronx in 1913, so CeCe and Alice began looking at birth records for babies born on the same day, in the same hospital. Perhaps, they thought, a nurse accidentally put Alice’s father in another child’s crib. CeCe and Alice even went so far as approaching the descendants of a man born that same day with a similar last name and had him test with 23andMe, but they found no match.


And then last year, Jessica, who lives in North Carolina, signed up for 23andMe. Like Alice she also got a big surprise.


“I knew my mom is Japanese, Filipino and Native American,” Jessica said.


Her dad was a bit of a mystery because he’d died when Jessica was still young, but she knew that he was Jewish. But the results came back and instead of showing she had Jewish ancestry, it showed she was a quarter Irish.
“It didn’t match what I knew,” Jessica said.
That might have been it, but that one of Alice’s nephews also tested with 23andMe. Alice found that she shared no DNA with him, that they in fact were not biologically related. Although that would seem to be another dead end, Alice knew that his results could help her solve the mystery.
When he shared with Alice some of his DNA Relative matches, she saw a name she didn’t recognize, Jessica.


“When I saw her listing, I started shaking,” said Alice.
She knew this could be the key.
So Alice sent her a message.
“Help solve a hundred year-old mystery,” Alice said in her message.
Jessica was intrigued.
When they connected, Alice immediately asked whether Jessica had been surprised by her ancestry results.
And then Alice floated her idea, that Jessica’s grandfather and Alice’s father, who were both born on the same day at the same hospital in the Bronx in 1913, had been switched at birth.
For Jessica, the whole thing sounded intriguing. She wanted to know. For Alice, who’d resigned herself to never solving the mystery, she could hardly contain herself.
When they shared family photos, it seemed even clearer that the mystery had been solved.


“You can’t look and come to any other conclusion,” said Fischer in the show.


For CeCe, the photos illustrate something she’s seen in many cases. Here are these two men, clearly not biologically related to the parents who raised them, and for those men how out of place they sometimes must have felt.
It’s also intriguing to think about how their lives might have been different, said Jessica.
“That might be the strangest part,” Jessica said. “They ended up living different lives.”

Family Mystery Solved with 23andMe

23andMe&#8217;s had a busy week with a lot of media coverage of our new customer experience.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23116" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/Anne-@-CBS-300x169.jpg" alt="Anne @ CBS" width="300" height="169" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/Anne-@-CBS-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Anne-@-CBS.jpg 640w" sizes="auto, (max-width: 300px) 100vw, 300px" />
For everyone here at 23andMe, the notice is a nice moment after <a href="https://www.fastcompany.com/3052283/most-creative-people/how-ceo-anne-wojcicki-turned-23andme-around-after-falling-out-with-the-">two years of hard work</a>.
A lot went into the new experience, from extensive consumer comprehension studies to creative design work that better communicates sometimes <a href="https://www.23andme.com/membership" target="_blank" rel="noopener">complicated genetic results</a>, to hard science. In the end, we think all that work made a product that was already great, even better.


23andMe’s mission hasn’t changed. It’s still about finding the best tools to help people access, understand and benefit from the human genome. We think getting this right is important, and not just for us as a business. Empowering consumers with this information has the potential of impacting people&#8217;s lives, as our CEO and co-founder Anne Wojcicki told Fast Company.


&#8220;I think a lot about the consumer health movement, and I believe this is an important step forward,” Anne said.


Here&#8217;s a short round-up of some of the coverage:

&#8211; <a href="https://www.cbsnews.com/news/ceo-anne-wojcicki-on-return-of-23andme-direct-to-consumer-genetic-testing-privacy-of-data/" target="_blank" rel="noopener noreferrer">23andMe CEO on resuming genetic testing</a>


&#8211; <a href="https://www.fastcompany.com/3052553/behind-the-brand/23andmes-genetic-tests-are-back-on-the-market-and-they-doubled-the-price?partner=rss" target="_blank" rel="noopener noreferrer">23andMe&#8217;s genetic health tests are back on the market </a>
&#8211; <a href="http://www.usatoday.com/story/tech/2015/10/21/23andme-reboots-service-anne-wojcicki/74281804/">23andme relaunches its expanded DNA spit tests after FDA-mandated pause</a>
&#8211;
<a href="https://www.forbes.com/sites/matthewherper/2015/10/21/23andmes-triumph-and-the-long-road-ahead/">23andMe&#8217;s Triumph &#8212; And The Long Road Ahead</a>


&#8211; <a href="https://www.genomeweb.com/scan/23andme-back-health-game">23andMe, Back in the Health Game</a>
&#8211; <a href="https://www.bloomberg.com/news/articles/2015-10-21/23andme-s-new-dna-test-restores-some-health-analysis-for-199">23andMe&#8217;s New DNA Test Restores Some Health Analysis for $199</a>

Latest Posts — Page 107